#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
CSGALNACT2	55454	hgsc.bcm.edu;ucsc.edu	37	10	43659372	43659372	+	Nonsense_Mutation	SNP	C	C	T	rs76607193	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:43659372C>T	ENST00000374466.3	+	5	1374	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	347					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)	p.R347*(1)		endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TAATCGTGGACGAGGACTAAA	0.408																																																1	Substitution - Nonsense(1)	skin(1)											191.0	181.0	184.0					10																	43659372		2203	4300	6503	SO:0001587	stop_gained	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1039C>T	10.37:g.43659372C>T	ENSP00000363590:p.Arg347*		B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Nonsense_Mutation	SNP	ENST00000374466.3	37	CCDS7201.1	.	.	.	.	.	.	.	.	.	.	C	41	8.712957	0.98925	.	.	ENSG00000169826	ENST00000374466	.	.	.	6.08	4.19	0.49359	.	0.110120	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08599	T	0.76	-3.2438	15.5126	0.75795	0.253:0.747:0.0:0.0	.	.	.	.	X	347	.	ENSP00000363590:R347X	R	+	1	2	CSGALNACT2	42979378	0.998000	0.40836	1.000000	0.80357	0.999000	0.98932	1.226000	0.32563	0.852000	0.35287	0.591000	0.81541	CGA		0.408	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047693.1	NM_018590		5	39	5	39
PTEN	5728	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	10	89624301	89624301	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	ENST00000371953.3	+	1	1432	c.75G>T	c.(73-75)ttG>ttT	p.L25F	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				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.?(13)|p.L25fs*28(1)|p.L25F(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)		ACTTAGACTTGACCTGTATCC	0.458		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"""	52	Whole gene deletion(37)|Unknown(13)|Substitution - Missense(1)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(10)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)|kidney(1)											160.0	152.0	155.0					10																	89624301		2203	4300	6503	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.75G>T	10.37:g.89624301G>T	ENSP00000361021:p.Leu25Phe		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.256616	0.80246	.	.	ENSG00000171862	ENST00000371953	D	0.98684	-5.07	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.164389	0.41605	D	0.000848	D	0.98661	0.9551	M	0.79693	2.465	0.80722	D	1	P	0.51240	0.943	P	0.52109	0.69	D	0.99191	1.0870	9	.	.	.	-0.0822	17.6706	0.88216	0.0:0.0:1.0:0.0	.	25	P60484	PTEN_HUMAN	F	25	ENSP00000361021:L25F	.	L	+	3	2	PTEN	89614281	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.031000	0.49728	2.467000	0.83353	0.561000	0.74099	TTG		0.458	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314		38	31	38	31
OVCH1	341350	hgsc.bcm.edu;ucsc.edu	37	12	29642562	29642562	+	Silent	SNP	G	G	A	rs372417527		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:29642562G>A	ENST00000318184.5	-	6	692	c.693C>T	c.(691-693)gaC>gaT	p.D231D		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	231	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CCTGGCAGGCGTCCATTCCCC	0.493																																																0								G		0,3874		0,0,1937	77.0	74.0	75.0		693	-0.8	0.0	12		75	2,8230		0,2,4114	no	coding-synonymous	OVCH1	NM_183378.2		0,2,6051	AA,AG,GG		0.0243,0.0,0.0165		231/1135	29642562	2,12104	1937	4116	6053	SO:0001819	synonymous_variant	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.693C>T	12.37:g.29642562G>A				Silent	SNP	ENST00000318184.5	37																																																																																					0.493	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2	NM_183378		5	11	5	11
TRHDE	29953	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	72893328	72893328	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	ENST00000261180.4	+	6	1596	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	500					cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.D500D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458																																																1	Substitution - coding silent(1)	ovary(1)											176.0	137.0	150.0					12																	72893328		2203	4300	6503	SO:0001819	synonymous_variant	29953			AF126372	CCDS9004.1	12q15-q21	2012-07-25		2005-08-09		ENSG00000072657	3.4.19.6		30748	protein-coding gene	gene with protein product	"""pyroglutamyl-peptidase II"", ""pyroglutamyl aminopeptidase II"", ""TRH-specific aminopeptidase"""	606950				10491199, 12975309	Standard	NM_013381		Approved	PGPEP2, TRH-DE, PAP-II	uc001sxa.3	Q9UKU6		ENST00000261180.4:c.1500C>T	12.37:g.72893328C>T			A5PL19|Q6UWJ4	Silent	SNP	ENST00000261180.4	37	CCDS9004.1																																																																																				0.458	TRHDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405380.1	NM_013381		35	56	35	56
WSCD2	9671	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	12	108589925	108589925	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	ENST00000332082.4	+	3	1134	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N|WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N|WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	106						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607																																																0													58.0	60.0	60.0					12																	108589925		2017	4177	6194	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.316G>A	12.37:g.108589925G>A	ENSP00000331933:p.Asp106Asn		B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	15.59	2.879298	0.51801	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.30448	1.54;1.53;1.54;1.53	5.74	5.74	0.90152	.	0.317663	0.37053	N	0.002266	T	0.26919	0.0659	L	0.56769	1.78	0.51482	D	0.999924	P	0.47545	0.897	B	0.29663	0.105	T	0.13495	-1.0507	10	0.25106	T	0.35	-38.5661	18.8897	0.92395	0.0:0.0:1.0:0.0	.	106	Q2TBF2	WSCD2_HUMAN	N	106	ENSP00000448047:D106N;ENSP00000261400:D106N;ENSP00000331933:D106N;ENSP00000447272:D106N	ENSP00000261400:D106N	D	+	1	0	WSCD2	107114055	1.000000	0.71417	0.992000	0.48379	0.487000	0.33371	5.607000	0.67648	2.704000	0.92352	0.655000	0.94253	GAC		0.607	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653		32	54	32	54
ADCY4	196883	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	14	24793338	24793338	+	Missense_Mutation	SNP	C	C	T	rs374008973		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	ENST00000310677.4	-	17	2089	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q|ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	659					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGTCCTGGTCGTGTGGCCAC	0.622																																																0								C	GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	69.0	63.0	65.0		1976,1976,1976	4.0	1.0	14		65	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	ADCY4	NM_001198568.1,NM_001198592.1,NM_139247.3	43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging	659/1078,659/1078,659/1078	24793338	1,13005	2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1976G>A	14.37:g.24793338C>T	ENSP00000312126:p.Arg659Gln		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	ENST00000310677.4	37	CCDS9627.1	.	.	.	.	.	.	.	.	.	.	C	13.43	2.236286	0.39498	0.0	1.16E-4	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.80393	-1.13;-1.13;-1.13;-1.37	4.93	4.04	0.47022	.	0.170847	0.27223	N	0.020345	T	0.75110	0.3805	L	0.61387	1.9	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.60444	-0.7262	10	0.22109	T	0.4	.	10.8351	0.46683	0.0:0.9084:0.0:0.0916	.	659	Q8NFM4	ADCY4_HUMAN	Q	659;659;659;352	ENSP00000312126:R659Q;ENSP00000452250:R659Q;ENSP00000393177:R659Q;ENSP00000379971:R352Q	ENSP00000312126:R659Q	R	-	2	0	ADCY4	23863178	0.000000	0.05858	0.981000	0.43875	0.995000	0.86356	0.289000	0.18957	1.313000	0.45069	0.563000	0.77884	CGA		0.622	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			19	47	19	47
PML	5371	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	74315324	74315324	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	ENST00000268058.3	+	3	854	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D|PML_ENST00000565898.1_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000395135.3_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	253					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGATAGTGCCTTTGGCGCG	0.687			T	"""RARA, PAX5"""	"""APL, ALL"""																																		Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													25.0	21.0	22.0					15																	74315324		2197	4295	6492	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.758C>A	15.37:g.74315324C>A	ENSP00000268058:p.Ala253Asp		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	ENST00000268058.3	37	CCDS10255.1	.	.	.	.	.	.	.	.	.	.	C	8.583	0.882806	0.17467	.	.	ENSG00000140464	ENST00000395135;ENST00000435786;ENST00000359928;ENST00000436891;ENST00000268058;ENST00000395132;ENST00000268059;ENST00000354026;ENST00000418568	T	0.47177	0.85	4.82	2.9	0.33743	.	1.012730	0.07911	N	0.974317	T	0.50684	0.1630	L	0.47716	1.5	0.09310	N	0.999992	D;B;P;B;P;P;P;P;B;D;P;D;B	0.65815	0.959;0.12;0.946;0.143;0.682;0.692;0.801;0.914;0.134;0.985;0.496;0.995;0.098	P;B;P;B;B;B;B;P;B;P;B;P;B	0.55577	0.681;0.123;0.702;0.071;0.281;0.281;0.398;0.5;0.074;0.668;0.261;0.779;0.122	T	0.39542	-0.9609	10	0.36615	T	0.2	-16.4834	5.0404	0.14456	0.0:0.6413:0.189:0.1697	.	253;203;253;253;253;253;253;253;253;253;253;253;256	P29590-3;Q59GQ8;P29590;P29590-11;P29590-12;P29590-5;E9PBR7;P29590-13;P29590-4;P29590-2;P29590-14;P29590-8;Q59H09	.;.;PML_HUMAN;.;.;.;.;.;.;.;.;.;.	D	253	ENSP00000268058:A253D	ENSP00000268058:A253D	A	+	2	0	PML	72102377	0.000000	0.05858	0.508000	0.27688	0.037000	0.13140	-0.663000	0.05299	2.224000	0.72417	0.313000	0.20887	GCC		0.687	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		14	21	14	21
ASB7	140460	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	15	101170214	101170214	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	ENST00000332783.7	+	5	1569	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	262					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358																																																0													50.0	50.0	50.0					15																	101170214		2203	4300	6503	SO:0001587	stop_gained	140460				CCDS10387.1, CCDS10388.1	15q26.3	2013-01-10	2011-01-25		ENSG00000183475	ENSG00000183475		"""Ankyrin repeat domain containing"""	17182	protein-coding gene	gene with protein product		615052	"""ankyrin repeat and SOCS box-containing 7"""				Standard	NM_024708		Approved		uc002bwk.3	Q9H672	OTTHUMG00000149868	ENST00000332783.7:c.784C>T	15.37:g.101170214C>T	ENSP00000328327:p.Arg262*		A8K1E5|Q6GSJ6|Q7Z4S3	Nonsense_Mutation	SNP	ENST00000332783.7	37	CCDS10387.1	.	.	.	.	.	.	.	.	.	.	C	43	10.089410	0.99333	.	.	ENSG00000183475	ENST00000332783;ENST00000343276	.	.	.	5.68	3.75	0.43078	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	-0.1492	15.1408	0.72609	0.2583:0.7416:0.0:0.0	.	.	.	.	X	262	.	ENSP00000328327:R262X	R	+	1	2	ASB7	98987737	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.430000	0.59907	0.816000	0.34421	-0.188000	0.12872	CGA		0.358	ASB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313617.1	NM_024708		30	48	30	48
IFT140	9742	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	1568282	1568282	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	ENST00000426508.2	-	30	4480	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140	1373					cilium assembly (GO:0042384)|intraciliary retrograde transport (GO:0035721)|protein localization to cilium (GO:0061512)|regulation of cilium assembly (GO:1902017)|renal system development (GO:0072001)|retina development in camera-type eye (GO:0060041)|skeletal system morphogenesis (GO:0048705)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|intraciliary transport particle A (GO:0030991)|photoreceptor connecting cilium (GO:0032391)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGATGCGGATGGTGCTGTCC	0.602																																																0													113.0	81.0	92.0					16																	1568282		2199	4300	6499	SO:0001583	missense	9742			AB011162	CCDS10439.1	16p13.3	2014-07-03	2014-07-03	2005-11-02	ENSG00000187535	ENSG00000187535		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29077	protein-coding gene	gene with protein product		614620	"""WD and tetratricopeptide repeats 2"", ""intraflagellar transport 140 homolog (Chlamydomonas)"""	WDTC2		9628581	Standard	NM_014714		Approved	gs114, KIAA0590	uc002cmb.3	Q96RY7	OTTHUMG00000128585	ENST00000426508.2:c.4117A>G	16.37:g.1568282T>C	ENSP00000406012:p.Ile1373Val		A2A2A8|D3DU75|O60332|Q9UG52	Missense_Mutation	SNP	ENST00000426508.2	37	CCDS10439.1	.	.	.	.	.	.	.	.	.	.	T	0.004	-2.296942	0.00245	.	.	ENSG00000187535	ENST00000397417;ENST00000361339;ENST00000426508	T;T	0.53640	1.74;0.61	4.68	-3.88	0.04205	.	0.507715	0.20030	N	0.100733	T	0.18882	0.0453	N	0.05510	-0.035	0.30062	N	0.810792	B;B	0.02656	0.0;0.0	B;B	0.09377	0.002;0.004	T	0.36456	-0.9747	10	0.02654	T	1	.	11.3699	0.49694	0.0:0.3841:0.0:0.6159	.	1373;1060	Q96RY7;B4DR58	IF140_HUMAN;.	V	1373;567;1373	ENSP00000354895:I567V;ENSP00000406012:I1373V	ENSP00000354895:I567V	I	-	1	0	IFT140	1508283	0.000000	0.05858	0.004000	0.12327	0.031000	0.12232	-0.597000	0.05713	-1.401000	0.02058	-1.162000	0.01777	ATC		0.602	IFT140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250438.2	NM_014714		20	42	20	42
DNAH3	55567	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	21049263	21049263	+	Silent	SNP	C	C	T	rs536529487		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	ENST00000261383.3	-	34	4769	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S	DNAH3_ENST00000415178.1_Silent_p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1590	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTGTTCCGAGCACAGGC	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		22454	0.001		0.0	False		,,,				2504	0.0															0													106.0	82.0	90.0					16																	21049263		2201	4300	6501	SO:0001819	synonymous_variant	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4770G>A	16.37:g.21049263C>T			O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	CCDS10594.1																																																																																				0.547	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		17	33	17	33
AMFR	267	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	16	56396893	56396893	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	ENST00000290649.5	-	14	2070	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	620	VCP/p97-interacting motif (VIM).				aging (GO:0007568)|cellular component movement (GO:0006928)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|learning or memory (GO:0007611)|protein oligomerization (GO:0051259)|protein polyubiquitination (GO:0000209)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)	dendrite (GO:0030425)|endoplasmic reticulum membrane (GO:0005789)|growth cone (GO:0030426)|Hrd1p ubiquitin ligase complex (GO:0000836)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	ligase activity (GO:0016874)|receptor activity (GO:0004872)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567																																					Pancreas(2;144 323 39528)											0													49.0	43.0	45.0					16																	56396893		2198	4300	6498	SO:0001819	synonymous_variant	267			L35233	CCDS10758.1	16q21	2013-01-09	2012-02-23		ENSG00000159461	ENSG00000159461		"""RING-type (C3HC4) zinc fingers"""	463	protein-coding gene	gene with protein product		603243	"""autocrine motility factor receptor"""			1649192	Standard	NM_001144		Approved	RNF45, gp78	uc002eiy.4	Q9UKV5	OTTHUMG00000133239	ENST00000290649.5:c.1860C>T	16.37:g.56396893G>A			P26442|Q8IZ70	Silent	SNP	ENST00000290649.5	37	CCDS10758.1																																																																																				0.567	AMFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256978.2			31	17	31	17
MYH13	8735	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	17	10223518	10223518	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	ENST00000418404.3	-	25	3463	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	RP11-401O9.3_ENST00000577743.1_RNA|RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Silent_p.D1100D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1100					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTTGTTCGTCATCTATTT	0.388																																																0													97.0	87.0	90.0					17																	10223518		1845	4089	5934	SO:0001819	synonymous_variant	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.3300C>T	17.37:g.10223518G>A			O95252|Q9P0U8	Silent	SNP	ENST00000418404.3	37	CCDS45613.1																																																																																				0.388	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442255.1	NM_003802		7	12	7	12
RNASEH2A	10535	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	12920991	12920991	+	Missense_Mutation	SNP	C	C	T	rs369355807		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	ENST00000221486.4	+	5	612	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	173					DNA replication (GO:0006260)|mismatch repair (GO:0006298)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	metal ion binding (GO:0046872)|ribonuclease activity (GO:0004540)|RNA binding (GO:0003723)|RNA-DNA hybrid ribonuclease activity (GO:0004523)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582																																																0								C	LEU/PRO	0,4406		0,0,2203	126.0	108.0	114.0		518	5.3	0.1	19		114	1,8599	1.2+/-3.3	0,1,4299	no	missense	RNASEH2A	NM_006397.2	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	173/300	12920991	1,13005	2203	4300	6503	SO:0001583	missense	10535			Z97029	CCDS12282.1	19p13.13	2014-09-17	2006-08-17			ENSG00000104889	3.1.26.-		18518	protein-coding gene	gene with protein product		606034	"""ribonuclease H2, large subunit"", ""Aicardi-Goutieres syndrome 4"""			9789007, 16845400	Standard	NM_006397		Approved	RNASEHI, RNHIA, RNHL, AGS4	uc002mvg.1	O75792		ENST00000221486.4:c.518C>T	19.37:g.12920991C>T	ENSP00000221486:p.Pro173Leu		B2RCY1|Q96F11	Missense_Mutation	SNP	ENST00000221486.4	37	CCDS12282.1	.	.	.	.	.	.	.	.	.	.	C	17.72	3.458752	0.63401	0.0	1.16E-4	ENSG00000104889	ENST00000221486	D	0.84589	-1.87	5.31	5.31	0.75309	Ribonuclease HII/HIII domain (1);Ribonuclease H-like (1);	0.055211	0.64402	D	0.000001	D	0.90998	0.7169	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.91712	0.5382	10	0.72032	D	0.01	-8.1204	17.7294	0.88373	0.0:1.0:0.0:0.0	.	173	O75792	RNH2A_HUMAN	L	173	ENSP00000221486:P173L	ENSP00000221486:P173L	P	+	2	0	RNASEH2A	12781991	1.000000	0.71417	0.063000	0.19743	0.044000	0.14063	6.952000	0.75989	2.473000	0.83533	0.561000	0.74099	CCG		0.582	RNASEH2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451507.1	NM_006397		35	115	35	115
CYP2S1	29785	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	41703792	41703792	+	Missense_Mutation	SNP	C	C	T	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	ENST00000310054.4	+	3	668	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	151					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622																																																0								C	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	58.0	57.0	57.0		452	1.2	0.5	19	dbSNP_134	57	1,8599	1.2+/-3.3	0,1,4299	yes	missense	CYP2S1	NM_030622.6	64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	151/505	41703792	2,13004	2203	4300	6503	SO:0001583	missense	29785			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.452C>T	19.37:g.41703792C>T	ENSP00000308032:p.Ala151Val		Q9BZ66	Missense_Mutation	SNP	ENST00000310054.4	37	CCDS12573.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177587	0.57692	2.27E-4	1.16E-4	ENSG00000167600	ENST00000301173;ENST00000310054	T	0.68903	-0.36	4.87	1.2	0.21068	.	0.276657	0.32386	N	0.006179	T	0.61874	0.2382	L	0.58428	1.81	0.80722	D	1	P	0.51653	0.947	B	0.43889	0.435	T	0.65245	-0.6215	10	0.66056	D	0.02	.	11.3497	0.49581	0.6607:0.3393:0.0:0.0	.	151	Q96SQ9	CP2S1_HUMAN	V	151	ENSP00000308032:A151V	ENSP00000301173:A151V	A	+	2	0	CYP2S1	46395632	0.352000	0.24895	0.475000	0.27278	0.366000	0.29705	1.636000	0.37144	0.440000	0.26502	0.485000	0.47835	GCG		0.622	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463287.1			10	44	10	44
ZNF665	79788	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	53668011	53668011	+	Missense_Mutation	SNP	C	C	G	rs201975096		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	ENST00000600412.1	-	2	1652	c.1537G>C	c.(1537-1539)Gca>Cca	p.A513P	ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P|CTD-2245F17.2_ENST00000600257.1_RNA			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	513					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACACTAAATGCTTTGCCGCAC	0.398													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21436	0.0		0.0	False		,,,				2504	0.0															0								C	PRO/ALA	3,4403	6.2+/-15.9	0,3,2200	119.0	122.0	121.0		1732	-0.9	0.0	19		121	0,8600		0,0,4300	yes	missense	ZNF665	NM_024733.3	27	0,3,6500	GG,GC,CC		0.0,0.0681,0.0231	possibly-damaging	578/679	53668011	3,13003	2203	4300	6503	SO:0001583	missense	79788				CCDS46169.1	19q13.42	2013-01-08				ENSG00000197497		"""Zinc fingers, C2H2-type"", ""-"""	25885	protein-coding gene	gene with protein product							Standard	NM_024733		Approved	FLJ14345	uc010eqm.1	Q9H7R5		ENST00000600412.1:c.1537G>C	19.37:g.53668011C>G	ENSP00000469154:p.Ala513Pro		A8K5T8	Missense_Mutation	SNP	ENST00000600412.1	37		.	.	.	.	.	.	.	.	.	.	C	12.63	1.995297	0.35226	6.81E-4	0.0	ENSG00000197497	ENST00000396424	T	0.37752	1.18	2.55	-0.877	0.10621	.	.	.	.	.	T	0.41236	0.1150	L	0.39085	1.19	0.09310	N	1	D	0.89917	1.0	D	0.80764	0.994	T	0.24225	-1.0166	9	0.72032	D	0.01	.	2.9711	0.05923	0.2112:0.2823:0.0:0.5065	.	578	Q9H7R5-2	.	P	578	ENSP00000379702:A578P	ENSP00000379702:A578P	A	-	1	0	ZNF665	58359823	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.077000	0.03416	0.005000	0.14708	-0.300000	0.09419	GCA		0.398	ZNF665-002	PUTATIVE	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000464179.1	NM_024733		25	168	25	168
NLRP11	204801	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	19	56321356	56321356	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	ENST00000589093.1	-	3	713	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_ENST00000443188.1_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S|NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	207	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCGTCAGGCCAGTCCTTGGC	0.498																																																0													94.0	89.0	91.0					19																	56321356		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.620G>C	19.37:g.56321356C>G	ENSP00000466285:p.Trp207Ser		C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	C	13.95	2.389255	0.42410	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.78595	-1.19;-1.19	2.48	2.48	0.30137	NACHT nucleoside triphosphatase (1);	.	.	.	.	D	0.84629	0.5514	M	0.76938	2.355	0.40883	D	0.98401	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.84403	0.0561	9	0.87932	D	0	.	5.2631	0.15584	0.0:0.8374:0.0:0.1626	.	207;207	P59045;P59045-2	NAL11_HUMAN;.	S	207	ENSP00000409898:W207S;ENSP00000353251:W207S	ENSP00000353251:W207S	W	-	2	0	NLRP11	61013168	0.553000	0.26513	0.676000	0.29932	0.045000	0.14185	0.717000	0.25851	1.696000	0.51158	0.609000	0.83330	TGG		0.498	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007		45	74	45	74
ZNF683	257101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	26691676	26691676	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	ENST00000436292.1	-	4	481	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E|ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	121					natural killer cell differentiation (GO:0001779)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577																																																0													29.0	28.0	28.0					1																	26691676		2200	4298	6498	SO:0001583	missense	257101			BC029505	CCDS279.2	1p36.11	2013-01-08			ENSG00000176083	ENSG00000176083		"""Zinc fingers, C2H2-type"""	28495	protein-coding gene	gene with protein product	"""hypothetical protein MGC33414"""					12477932	Standard	NM_173574		Approved	MGC33414	uc009vsj.1	Q8IZ20	OTTHUMG00000003521	ENST00000436292.1:c.361A>G	1.37:g.26691676T>C	ENSP00000388792:p.Lys121Glu		Q5T141|Q5T146|Q5T147|Q5T149|Q8NEN4	Missense_Mutation	SNP	ENST00000436292.1	37		.	.	.	.	.	.	.	.	.	.	T	0.679	-0.798865	0.02841	.	.	ENSG00000176083	ENST00000403843;ENST00000436292;ENST00000374204;ENST00000349618;ENST00000455900;ENST00000451801;ENST00000454975;ENST00000423508;ENST00000416125	T;T;T;T;T;T;T;T;T	0.25912	3.27;3.27;3.21;3.21;2.43;2.44;1.77;2.11;2.13	4.87	-1.12	0.09808	.	1.288130	0.05415	N	0.543232	T	0.07503	0.0189	N	0.01576	-0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32508	-0.9904	10	0.02654	T	1	-2.6909	6.0105	0.19573	0.0:0.2846:0.501:0.2144	.	121;121	Q8IZ20-2;Q8IZ20	.;ZN683_HUMAN	E	121;121;121;121;129;121;71;129;121	ENSP00000384782:K121E;ENSP00000388792:K121E;ENSP00000363320:K121E;ENSP00000344095:K121E;ENSP00000411289:K129E;ENSP00000411290:K121E;ENSP00000412881:K71E;ENSP00000391584:K129E;ENSP00000401961:K121E	ENSP00000344095:K121E	K	-	1	0	ZNF683	26564263	0.001000	0.12720	0.033000	0.17914	0.002000	0.02628	-0.443000	0.06862	-0.035000	0.13691	-0.375000	0.07067	AAG		0.577	ZNF683-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000009794.2	NM_173574		5	13	5	13
C8A	731	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	57378109	57378109	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	ENST00000361249.3	+	10	1510	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	472	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602																																																0													47.0	50.0	49.0					1																	57378109		2203	4300	6503	SO:0001583	missense	731			M16974	CCDS606.1	1p32.2	2014-09-17			ENSG00000157131	ENSG00000157131		"""Complement system"""	1352	protein-coding gene	gene with protein product		120950					Standard	NM_000562		Approved		uc001cyo.2	P07357	OTTHUMG00000008306	ENST00000361249.3:c.1414A>T	1.37:g.57378109A>T	ENSP00000354458:p.Ser472Cys		A2RUI4|A2RUI5|Q13668|Q9H130	Missense_Mutation	SNP	ENST00000361249.3	37	CCDS606.1	.	.	.	.	.	.	.	.	.	.	A	15.24	2.773922	0.49786	.	.	ENSG00000157131	ENST00000361249	D	0.85013	-1.93	5.55	3.12	0.35913	Membrane attack complex component/perforin (MACPF) domain (3);	0.474665	0.26612	N	0.023408	T	0.81969	0.4935	L	0.38175	1.15	0.09310	N	1	D	0.55385	0.971	P	0.56474	0.799	T	0.72191	-0.4365	10	0.59425	D	0.04	-15.8693	1.7589	0.02988	0.5702:0.1404:0.1539:0.1354	.	472	P07357	CO8A_HUMAN	C	472	ENSP00000354458:S472C	ENSP00000354458:S472C	S	+	1	0	C8A	57150697	0.040000	0.19996	0.725000	0.30721	0.501000	0.33797	1.071000	0.30666	0.952000	0.37798	0.533000	0.62120	AGC		0.602	C8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022890.1	NM_000562		39	79	39	79
RPF1	80135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	84961976	84961976	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	ENST00000370654.5	+	8	946	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C	GNG5_ENST00000487806.1_5'Flank	NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	311	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.|RNA-binding. {ECO:0000250}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328																																																0													88.0	92.0	91.0					1																	84961976		2203	4300	6503	SO:0001583	missense	80135			AF322053	CCDS695.1	1p22.3	2009-09-25	2009-09-25	2009-09-25	ENSG00000117133	ENSG00000117133			30350	protein-coding gene	gene with protein product	"""RNA processing factor 1"", ""ribosome production factor 1"""		"""brix domain containing 5"""	BXDC5		11864606	Standard	NM_025065		Approved		uc001djv.4	Q9H9Y2	OTTHUMG00000009857	ENST00000370654.5:c.931C>T	1.37:g.84961976C>T	ENSP00000359688:p.Arg311Cys		Q5VSK7|Q6AHX1|Q8WXZ8	Missense_Mutation	SNP	ENST00000370654.5	37	CCDS695.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347006	0.82022	.	.	ENSG00000117133	ENST00000370654	T	0.35236	1.32	6.07	4.14	0.48551	Brix domain (3);Anticodon-binding (1);	0.000000	0.85682	D	0.000000	T	0.64962	0.2646	H	0.96301	3.8	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.77948	-0.2396	10	0.87932	D	0	-13.0208	13.6364	0.62225	0.1242:0.7567:0.1192:0.0	.	311	Q9H9Y2	RPF1_HUMAN	C	311	ENSP00000359688:R311C	ENSP00000359688:R311C	R	+	1	0	RPF1	84734564	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.469000	0.80959	1.563000	0.49615	0.655000	0.94253	CGT		0.328	RPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027238.1	NM_025065		34	44	34	44
FASLG	356	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	172628551	172628551	+	Silent	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	ENST00000367721.2	+	1	394	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_ENST00000340030.3_Silent_p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	70	Pro-rich.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617																																					Ovarian(28;486 876 30334 44033)											0													102.0	94.0	97.0					1																	172628551		2203	4300	6503	SO:0001819	synonymous_variant	356			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.210C>A	1.37:g.172628551C>A			Q9BZP9	Silent	SNP	ENST00000367721.2	37	CCDS1304.1																																																																																				0.617	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084276.1			11	20	11	20
OR2G6	391211	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	1	248685544	248685544	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	ENST00000343414.4	+	1	629	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	199						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473																																																0													128.0	133.0	131.0					1																	248685544		2203	4300	6503	SO:0001819	synonymous_variant	391211				CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.597C>T	1.37:g.248685544C>T			B2RP33	Silent	SNP	ENST00000343414.4	37	CCDS31119.1																																																																																				0.473	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		29	72	29	72
AHCY	191	hgsc.bcm.edu;broad.mit.edu	37	20	32873405	32873405	+	Silent	SNP	G	G	A	rs139344907		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	ENST00000217426.2	-	9	1085	c.1008C>T	c.(1006-1008)atC>atT	p.I336I	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000538132.1_Silent_p.I308I	NM_000687.2	NP_000678.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	336					cellular nitrogen compound metabolic process (GO:0034641)|chronic inflammatory response to antigenic stimulus (GO:0002439)|circadian sleep/wake cycle (GO:0042745)|homocysteine biosynthetic process (GO:0071268)|methylation (GO:0032259)|one-carbon metabolic process (GO:0006730)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|S-adenosylhomocysteine catabolic process (GO:0019510)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nucleus (GO:0005634)	adenosylhomocysteinase activity (GO:0004013)|adenyl nucleotide binding (GO:0030554)|NAD binding (GO:0051287)			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCAGGATGATGCGGCGCC	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		15705	0.0		0.001	False		,,,				2504	0.0															0								G	,	1,4405	2.1+/-5.4	0,1,2202	67.0	57.0	60.0		1008,924	4.2	1.0	20	dbSNP_134	60	16,8584	10.5+/-38.8	0,16,4284	no	coding-synonymous,coding-synonymous	AHCY	NM_000687.2,NM_001161766.1	,	0,17,6486	AA,AG,GG		0.186,0.0227,0.1307	,	336/433,308/405	32873405	17,12989	2203	4300	6503	SO:0001819	synonymous_variant	191			M61832	CCDS13233.1, CCDS54457.1	20q11.22	2009-06-12	2009-06-12		ENSG00000101444	ENSG00000101444	3.3.1.1		343	protein-coding gene	gene with protein product		180960	"""S-adenosylhomocysteine hydrolase"""			7079734, 6580258	Standard	NM_001161766		Approved	SAHH	uc002xai.3	P23526	OTTHUMG00000140098	ENST00000217426.2:c.1008C>T	20.37:g.32873405G>A			A8K307|B3KUN3|E1P5P2|F5H737|Q96A36	Silent	SNP	ENST00000217426.2	37	CCDS13233.1																																																																																				0.632	AHCY-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078773.2	NM_000687		9	145	9	145
TRPM2	7226	hgsc.bcm.edu;ucsc.edu	37	21	45846577	45846577	+	Missense_Mutation	SNP	C	C	T	rs113563173	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:45846577C>T	ENST00000397928.1	+	26	4275	c.3830C>T	c.(3829-3831)aCg>aTg	p.T1277M	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M|TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1277					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)	p.T1277M(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCTTTTACACGGCAGAGAGG	0.602													C|||	5	0.000998403	0.0	0.0014	5008	,	,		15705	0.003		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	prostate(1)						C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	83.0	89.0	87.0		3830	4.5	0.6	21	dbSNP_132	87	4,8596	3.7+/-12.6	0,4,4296	yes	missense	TRPM2	NM_003307.3	81	0,5,6498	TT,TC,CC		0.0465,0.0227,0.0384	probably-damaging	1277/1504	45846577	5,13001	2203	4300	6503	SO:0001583	missense	7226			AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.3830C>T	21.37:g.45846577C>T	ENSP00000381023:p.Thr1277Met		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	CCDS13710.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.02	2.410966	0.42817	2.27E-4	4.65E-4	ENSG00000142185	ENST00000300482;ENST00000397928;ENST00000300481;ENST00000397932;ENST00000540347	T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03	4.46	4.46	0.54185	NUDIX hydrolase domain-like (1);	0.583692	0.16280	N	0.221408	D	0.88526	0.6460	M	0.89287	3.02	0.38009	D	0.934479	D;D;D	0.89917	1.0;0.999;0.999	P;P;P	0.60886	0.88;0.88;0.88	D	0.91291	0.5059	10	0.54805	T	0.06	-17.7264	16.075	0.80962	0.0:1.0:0.0:0.0	.	1327;1063;1277	E9PGK7;Q5KTC1;O94759	.;.;TRPM2_HUMAN	M	1277;1277;1257;1327;55	ENSP00000300482:T1277M;ENSP00000381023:T1277M;ENSP00000300481:T1257M;ENSP00000381026:T1327M	ENSP00000300481:T1257M	T	+	2	0	TRPM2	44671005	0.133000	0.22466	0.646000	0.29493	0.017000	0.09413	1.393000	0.34497	2.206000	0.71126	0.655000	0.94253	ACG		0.602	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1	NM_003307		21	133	21	133
TTC27	55622	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	32858959	32858959	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	ENST00000317907.4	+	3	514	c.283C>G	c.(283-285)Cta>Gta	p.L95V	MIR4765_ENST00000585007.1_RNA	NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	95										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGATATTTCTACTTGGTGT	0.368																																																0													121.0	120.0	121.0					2																	32858959		2203	4300	6503	SO:0001583	missense	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.283C>G	2.37:g.32858959C>G	ENSP00000313953:p.Leu95Val		A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Missense_Mutation	SNP	ENST00000317907.4	37	CCDS33176.1	.	.	.	.	.	.	.	.	.	.	C	9.375	1.071496	0.20147	.	.	ENSG00000018699	ENST00000448773;ENST00000317907	T	0.61158	0.13	5.59	3.79	0.43588	.	0.410543	0.22883	N	0.054496	T	0.48484	0.1502	L	0.56199	1.76	0.35846	D	0.826429	B	0.26902	0.163	B	0.26416	0.069	T	0.51060	-0.8753	10	0.15066	T	0.55	-7.5544	10.5972	0.45345	0.0:0.8425:0.0:0.1575	.	95	Q6P3X3	TTC27_HUMAN	V	45;95	ENSP00000313953:L95V	ENSP00000313953:L95V	L	+	1	2	TTC27	32712463	1.000000	0.71417	0.995000	0.50966	0.773000	0.43773	1.667000	0.37471	1.355000	0.45865	0.563000	0.77884	CTA		0.368	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325395.1	NM_017735		22	103	22	103
EPC2	26122	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	149528637	149528637	+	Silent	SNP	A	A	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	ENST00000258484.6	+	10	1435	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	467					chromatin modification (GO:0016568)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383																																																0													45.0	42.0	43.0					2																	149528637		1837	4105	5942	SO:0001819	synonymous_variant	26122			AF286904	CCDS46422.1	2q23	2008-02-05			ENSG00000135999	ENSG00000135999			24543	protein-coding gene	gene with protein product		611000					Standard	NM_015630		Approved	DKFZP566F2124	uc010zbt.2	Q52LR7	OTTHUMG00000153739	ENST00000258484.6:c.1401A>G	2.37:g.149528637A>G			B3KWT7|D3DP89|Q7L9J1|Q96RR7|Q9NUT8|Q9NVR1|Q9UFM9	Silent	SNP	ENST00000258484.6	37	CCDS46422.1																																																																																				0.383	EPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332278.1	NM_015630		18	24	18	24
SF3B1	23451	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	198267364	198267364	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	ENST00000335508.6	-	14	2084	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F	SF3B1_ENST00000462613.1_5'Flank|SNORA4_ENST00000365564.1_RNA	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	665					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408			Mis		myelodysplastic syndrome																																		Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													120.0	119.0	120.0					2																	198267364		2203	4300	6503	SO:0001583	missense	23451			AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.1993A>T	2.37:g.198267364T>A	ENSP00000335321:p.Ile665Phe		E9PCH3	Missense_Mutation	SNP	ENST00000335508.6	37	CCDS33356.1	.	.	.	.	.	.	.	.	.	.	T	28.6	4.934376	0.92458	.	.	ENSG00000115524	ENST00000335508	T	0.65916	-0.18	5.68	5.68	0.88126	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84316	0.5445	H	0.94847	3.59	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	D	0.88934	0.3375	10	0.87932	D	0	.	15.938	0.79729	0.0:0.0:0.0:1.0	.	665	O75533	SF3B1_HUMAN	F	665	ENSP00000335321:I665F	ENSP00000335321:I665F	I	-	1	0	SF3B1	197975609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.877000	0.87225	2.167000	0.68274	0.459000	0.35465	ATT		0.408	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335245.2			13	72	13	72
IQCA1	79781	hgsc.bcm.edu;broad.mit.edu	37	2	237308067	237308067	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	ENST00000409907.3	-	9	1473	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S|IQCA1_ENST00000465621.1_5'UTR|IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	400	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463																																																0													155.0	152.0	153.0					2																	237308067		1962	4161	6123	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1199A>G	2.37:g.237308067T>C	ENSP00000387347:p.Asn400Ser		B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	ENST00000409907.3	37	CCDS46549.1	.	.	.	.	.	.	.	.	.	.	T	0.015	-1.553340	0.00918	.	.	ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437	D;D;D	0.93366	-3.08;-3.08;-3.21	3.74	1.38	0.22167	.	0.330956	0.25827	N	0.028050	D	0.83271	0.5218	N	0.16656	0.425	0.09310	N	1	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.002;0.002;0.002	T	0.67960	-0.5535	10	0.19147	T	0.46	.	6.6776	0.23103	0.0:0.3201:0.0:0.6799	.	359;407;400	E7EWQ0;E9PH78;Q86XH1	.;.;IQCA1_HUMAN	S	400;407;396;359;396	ENSP00000387347:N400S;ENSP00000311951:N396S;ENSP00000407213:N359S	ENSP00000254653:N400S	N	-	2	0	IQCA1	236972806	0.000000	0.05858	0.001000	0.08648	0.193000	0.23685	0.101000	0.15251	0.293000	0.22520	0.533000	0.62120	AAC		0.463	IQCA1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000329266.1	NM_024726		6	121	6	121
COL6A3	1293	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	2	238274357	238274357	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	ENST00000295550.4	-	12	6274	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1941	Nonhelical region.|VWFA 10. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTCCGGCGAGGACTGTCT	0.552																																																0													69.0	68.0	68.0					2																	238274357		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.5822C>T	2.37:g.238274357G>A	ENSP00000295550:p.Ser1941Leu		A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	.	.	.	.	.	.	.	.	.	.	G	9.418	1.082176	0.20309	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	T;T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06;1.06	5.06	5.06	0.68205	von Willebrand factor, type A (2);	0.185154	0.27991	N	0.017023	T	0.59702	0.2213	M	0.65975	2.015	0.22468	N	0.999073	D;D;P	0.71674	0.998;0.998;0.804	P;P;B	0.59889	0.805;0.865;0.113	T	0.55736	-0.8094	10	0.59425	D	0.04	.	17.0589	0.86541	0.0:0.0:1.0:0.0	.	1334;1735;1941	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	L	1941;1740;1735;1334;1735;1741	ENSP00000295550:S1941L;ENSP00000315609:S1740L;ENSP00000315873:S1735L;ENSP00000418285:S1334L;ENSP00000386844:S1735L;ENSP00000295546:S1741L	ENSP00000295550:S1941L	S	-	2	0	COL6A3	237939096	0.958000	0.32768	0.153000	0.22517	0.431000	0.31685	4.515000	0.60489	2.545000	0.85829	0.650000	0.86243	TCG		0.552	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		36	56	36	56
GRK7	131890	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	3	141497220	141497220	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	ENST00000264952.2	+	1	231	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	32					protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	membrane (GO:0016020)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAGCTGCAGCGGCGGCGGCG	0.682																																																0													21.0	27.0	25.0					3																	141497220		2197	4296	6493	SO:0001583	missense	131890				CCDS3120.1	3q24	2004-02-04	2004-02-04	2004-02-04	ENSG00000114124	ENSG00000114124			17031	protein-coding gene	gene with protein product		606987		GPRK7		11717351, 11754336	Standard	NM_139209		Approved		uc011bnd.2	Q8WTQ7	OTTHUMG00000159068	ENST00000264952.2:c.94C>T	3.37:g.141497220C>T	ENSP00000264952:p.Arg32Trp			Missense_Mutation	SNP	ENST00000264952.2	37	CCDS3120.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.224758	0.58668	.	.	ENSG00000114124	ENST00000264952	T	0.62364	0.03	4.33	1.02	0.19986	.	0.119797	0.56097	N	0.000038	T	0.52208	0.1720	L	0.29908	0.895	0.28950	N	0.890478	D	0.69078	0.997	P	0.50378	0.639	T	0.52253	-0.8600	10	0.87932	D	0	-18.6382	6.552	0.22440	0.6018:0.2948:0.0:0.1033	.	32	Q8WTQ7	GRK7_HUMAN	W	32	ENSP00000264952:R32W	ENSP00000264952:R32W	R	+	1	2	GRK7	142979910	1.000000	0.71417	0.997000	0.53966	0.636000	0.38137	1.691000	0.37721	0.278000	0.22164	-0.140000	0.14226	CGG		0.682	GRK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353168.1	NM_139209		18	48	18	48
KIAA0232	9778	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	6865324	6865324	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	ENST00000307659.5	+	7	3670	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1072							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTTTAAACCGAAATCAATC	0.418																																																0													96.0	90.0	92.0					4																	6865324		1875	4103	5978	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.3215C>T	4.37:g.6865324C>T	ENSP00000303928:p.Pro1072Leu		A7E2D2	Missense_Mutation	SNP	ENST00000307659.5	37	CCDS43209.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.083345	0.76642	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.78020	0.4218	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.79633	-0.1722	9	0.87932	D	0	-16.4125	18.8694	0.92306	0.0:1.0:0.0:0.0	.	1072	Q92628	K0232_HUMAN	L	1072	.	ENSP00000303928:P1072L	P	+	2	0	KIAA0232	6916225	1.000000	0.71417	0.947000	0.38551	0.996000	0.88848	7.237000	0.78164	2.765000	0.95021	0.655000	0.94253	CCG		0.418	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2	NM_014743		38	109	38	109
GABRA4	2557	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	ENST00000264318.3	-	1	1047	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	22					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	GCACAGGAAGCGCAGGAGGGC	0.592																																					Ovarian(6;283 369 8234 12290 33402)											0													112.0	108.0	109.0					4																	46995377		2203	4300	6503	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.65G>A	4.37:g.46995377C>T	ENSP00000264318:p.Arg22His		Q8IYR7	Missense_Mutation	SNP	ENST00000264318.3	37	CCDS3473.1	.	.	.	.	.	.	.	.	.	.	C	11.11	1.541364	0.27563	.	.	ENSG00000109158	ENST00000264318	T	0.79845	-1.31	4.72	-6.48	0.01896	.	0.508381	0.21690	N	0.070586	T	0.46190	0.1380	N	0.03608	-0.345	0.20975	N	0.999818	B	0.02656	0.0	B	0.01281	0.0	T	0.50268	-0.8848	10	0.13108	T	0.6	.	4.731	0.12964	0.2317:0.2026:0.0:0.5658	.	22	P48169	GBRA4_HUMAN	H	22	ENSP00000264318:R22H	ENSP00000264318:R22H	R	-	2	0	GABRA4	46690134	1.000000	0.71417	0.070000	0.20053	0.930000	0.56654	0.689000	0.25437	-1.379000	0.02118	-0.291000	0.09656	CGC		0.592	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216893.1			61	100	61	100
KDR	3791	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	4	55961110	55961110	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	ENST00000263923.4	-	21	3125	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	944	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.R944R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																													Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	1	Substitution - coding silent(1)	lung(1)											75.0	70.0	71.0					4																	55961110		2203	4300	6503	SO:0001587	stop_gained	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2830C>T	4.37:g.55961110G>A	ENSP00000263923:p.Arg944*		A2RRS0|B5A925|C5IFA0|O60723|Q14178	Nonsense_Mutation	SNP	ENST00000263923.4	37	CCDS3497.1	.	.	.	.	.	.	.	.	.	.	G	41	8.536951	0.98854	.	.	ENSG00000128052	ENST00000263923	.	.	.	5.87	5.87	0.94306	.	0.209202	0.41712	D	0.000834	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.9428	0.58354	0.0:0.0:0.7978:0.2022	.	.	.	.	X	944	.	ENSP00000263923:R944X	R	-	1	2	KDR	55655867	0.996000	0.38824	0.880000	0.34516	0.291000	0.27294	3.590000	0.53979	2.780000	0.95670	0.655000	0.94253	CGA		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1			34	64	34	64
GZMK	3003	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	54329739	54329739	+	Silent	SNP	G	G	A	rs547276524	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	ENST00000231009.2	+	5	850	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CTD-2313F11.1_ENST00000596137.1_RNA|CTD-2313F11.1_ENST00000609792.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA|CTD-2313F11.1_ENST00000609699.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	260						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.P260P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408													G|||	4	0.000798722	0.0	0.0	5008	,	,		17596	0.0		0.001	False		,,,				2504	0.0031															1	Substitution - coding silent(1)	endometrium(1)											92.0	87.0	89.0					5																	54329739		2203	4300	6503	SO:0001819	synonymous_variant	3003			BC035802	CCDS3964.1	5q11.2	2008-05-15	2005-08-17		ENSG00000113088	ENSG00000113088			4711	protein-coding gene	gene with protein product		600784	"""granzyme K (serine protease, granzyme 3; tryptase II)"""			7758581	Standard	NM_002104		Approved	TRYP2, PRSS	uc003jpl.1	P49863	OTTHUMG00000097009	ENST00000231009.2:c.780G>A	5.37:g.54329739G>A			B2R563	Silent	SNP	ENST00000231009.2	37	CCDS3964.1																																																																																				0.408	GZMK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214098.1	NM_002104		18	57	18	57
GPR98	84059	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	89954001	89954001	+	Missense_Mutation	SNP	G	G	C	rs369994629		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	ENST00000405460.2	+	21	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1553					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGAGCTCGTATTTCGGAA	0.348																																																0													92.0	92.0	92.0					5																	89954001		1817	4079	5896	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.4658G>C	5.37:g.89954001G>C	ENSP00000384582:p.Arg1553Pro		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	G	18.15	3.560548	0.65538	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043	T	0.28895	1.59	5.86	4.94	0.65067	.	0.146153	0.64402	D	0.000008	T	0.42177	0.1191	L	0.29908	0.895	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.36261	-0.9755	10	0.72032	D	0.01	.	11.8879	0.52613	0.0903:0.0:0.9097:0.0	.	1553	Q8WXG9	GPR98_HUMAN	P	1553	ENSP00000384582:R1553P	ENSP00000296619:R1553P	R	+	2	0	GPR98	89989757	1.000000	0.71417	0.993000	0.49108	0.414000	0.31173	6.452000	0.73485	1.322000	0.45245	0.650000	0.86243	CGT		0.348	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119		38	85	38	85
FAT2	2196	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18. {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)	p.R2117*(1)		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)			GGGTCAATTCGGAAATATGTG	0.428																																																1	Substitution - Nonsense(1)	endometrium(1)											120.0	125.0	123.0					5																	150924339		2203	4300	6503	SO:0001587	stop_gained	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.6349C>T	5.37:g.150924339G>A	ENSP00000261800:p.Arg2117*		O75091|Q9NSR7	Nonsense_Mutation	SNP	ENST00000261800.5	37	CCDS4317.1	.	.	.	.	.	.	.	.	.	.	G	46	12.437382	0.99667	.	.	ENSG00000086570	ENST00000261800	.	.	.	5.63	4.57	0.56435	.	0.234724	0.30649	N	0.009163	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	.	7.3985	0.26950	0.1313:0.0:0.6995:0.1692	.	.	.	.	X	2117	.	ENSP00000261800:R2117X	R	-	1	2	FAT2	150904532	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.740000	0.26188	2.658000	0.90341	0.561000	0.74099	CGA		0.428	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		62	144	62	144
EBF1	1879	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	158158158	158158158	+	Silent	SNP	G	G	A	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	ENST00000313708.6	-	11	1326	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_ENST00000380654.4_Silent_p.N317N|EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	348					multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448			T	HMGA2	lipoma								G|||	1	0.000199681	0.0008	0.0	5008	,	,		21030	0.0		0.0	False		,,,				2504	0.0						Dom	yes		5	5q34	1879	early B-cell factor 1		M	0								G		1,4405	2.1+/-5.4	0,1,2202	59.0	60.0	60.0		1044	-11.0	0.3	5	dbSNP_134	60	0,8600		0,0,4300	no	coding-synonymous	EBF1	NM_024007.3		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		348/592	158158158	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1879			AF208502	CCDS4343.1	5q34	2008-02-05	2006-09-26	2006-09-26	ENSG00000164330	ENSG00000164330			3126	protein-coding gene	gene with protein product		164343	"""early B-cell factor"""	EBF		8012110	Standard	NM_024007		Approved	OLF1	uc010jip.3	Q9UH73	OTTHUMG00000130304	ENST00000313708.6:c.1044C>T	5.37:g.158158158G>A			Q8IW11	Silent	SNP	ENST00000313708.6	37	CCDS4343.1																																																																																				0.448	EBF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000252649.1	NM_024007		10	33	10	33
TLX3	30012	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	5	170738554	170738554	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	ENST00000296921.5	+	3	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	276					central nervous system development (GO:0007417)|negative regulation of neuron differentiation (GO:0045665)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of transcription, DNA-templated (GO:0006355)|respiratory gaseous exchange (GO:0007585)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637			T	BCL11B	T-ALL																																Esophageal Squamous(33;43 807 3116 3348 30094)		Dom	yes		5	5q35.1	30012	"""T-cell leukemia, homeobox 3 (HOX11L2)"""		L	0													64.0	51.0	55.0					5																	170738554		2203	4300	6503	SO:0001583	missense	30012			AJ223798	CCDS34288.1	5q35.1	2011-06-20	2005-12-22	2002-05-31	ENSG00000164438	ENSG00000164438		"""Homeoboxes / ANTP class : NKL subclass"""	13532	protein-coding gene	gene with protein product		604640	"""homeo box 11-like 2"", ""T-cell leukemia, homeobox 3"""	HOX11L2		11435718, 11435716	Standard	NM_021025		Approved	RNX	uc003mbf.3	O43711	OTTHUMG00000163207	ENST00000296921.5:c.827C>A	5.37:g.170738554C>A	ENSP00000296921:p.Pro276His		Q96AD3	Missense_Mutation	SNP	ENST00000296921.5	37	CCDS34288.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.297041	0.81025	.	.	ENSG00000164438	ENST00000296921	D	0.95103	-3.61	4.12	4.12	0.48240	.	0.000000	0.85682	D	0.000000	D	0.97321	0.9124	M	0.85710	2.77	0.58432	D	0.999998	D	0.89917	1.0	D	0.83275	0.996	D	0.98331	1.0533	10	0.87932	D	0	.	16.334	0.83052	0.0:1.0:0.0:0.0	.	276	O43711	TLX3_HUMAN	H	276	ENSP00000296921:P276H	ENSP00000296921:P276H	P	+	2	0	TLX3	170671159	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.350000	0.79385	1.986000	0.57962	0.491000	0.48974	CCC		0.637	TLX3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000372076.3			13	17	13	17
NMBR	4829	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	6	142397176	142397176	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	ENST00000258042.1	-	3	922	c.782G>A	c.(781-783)cGg>cAg	p.R261Q	NMBR_ENST00000480652.1_5'Flank	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	261					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378																																																0													62.0	53.0	56.0					6																	142397176		2203	4299	6502	SO:0001583	missense	4829				CCDS5196.1	6q24.1	2014-02-21			ENSG00000135577	ENSG00000135577		"""GPCR / Class A : Bombesin receptors"""	7843	protein-coding gene	gene with protein product	"""bombesin receptor 1"""	162341					Standard	NM_002511		Approved	BB1	uc003qiu.3	P28336	OTTHUMG00000015704	ENST00000258042.1:c.782G>A	6.37:g.142397176C>T	ENSP00000258042:p.Arg261Gln		E9KL38|Q5VUK8	Missense_Mutation	SNP	ENST00000258042.1	37	CCDS5196.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.608004	0.87258	.	.	ENSG00000135577	ENST00000258042	T	0.72394	-0.65	5.3	3.52	0.40303	GPCR, rhodopsin-like superfamily (1);	0.049561	0.85682	D	0.000000	T	0.81569	0.4850	M	0.89353	3.025	0.58432	D	0.999992	D	0.89917	1.0	D	0.97110	1.0	D	0.84903	0.0843	10	0.87932	D	0	-13.1294	12.3253	0.55007	0.0:0.8609:0.0:0.1391	.	261	P28336	NMBR_HUMAN	Q	261	ENSP00000258042:R261Q	ENSP00000258042:R261Q	R	-	2	0	NMBR	142438869	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.735000	0.68587	0.730000	0.32425	0.655000	0.94253	CGG		0.378	NMBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042479.1			24	50	24	50
EGFR	1956	hgsc.bcm.edu;broad.mit.edu	37	7	55241722	55241722	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55241722G>A	ENST00000275493.2	+	18	2347	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G671S|EGFR_ENST00000455089.1_Missense_Mutation_p.G679S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	724	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> S (found in a lung cancer sample). {ECO:0000269|PubMed:16533793}.		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.G724S(3)		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)	CGGTGCGTTCGGCACGGTGTA	0.562		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"""	3	Substitution - Missense(3)	lung(2)|large_intestine(1)											53.0	55.0	54.0					7																	55241722		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.2170G>A	7.37:g.55241722G>A	ENSP00000275493:p.Gly724Ser		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	19.48	3.835979	0.71373	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	T;T;T	0.78246	-1.16;-1.16;-1.16	5.5	5.5	0.81552	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89536	0.6743	M	0.84511	2.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.996;1.0	D	0.90913	0.4777	10	0.87932	D	0	.	17.9478	0.89044	0.0:0.0:1.0:0.0	.	679;724	Q504U8;P00533	.;EGFR_HUMAN	S	679;594;724;671	ENSP00000415559:G679S;ENSP00000275493:G724S;ENSP00000395243:G671S	ENSP00000275493:G724S	G	+	1	0	EGFR	55209216	1.000000	0.71417	0.919000	0.36401	0.007000	0.05969	9.772000	0.98984	2.562000	0.86427	0.563000	0.77884	GGC		0.562	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		126	1990	126	1990
RP1	6101	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642																																					Colon(91;1014 1389 7634 14542 40420)											1	Substitution - Missense(1)	lung(1)											83.0	85.0	84.0					8																	55534023		2203	4300	6503	SO:0001583	missense	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.497C>T	8.37:g.55534023C>T	ENSP00000220676:p.Thr166Met			Missense_Mutation	SNP	ENST00000220676.1	37	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	11.68	1.709586	0.30322	.	.	ENSG00000104237	ENST00000220676	D	0.86562	-2.14	5.14	1.26	0.21427	Doublecortin domain (4);	0.635417	0.14570	N	0.311486	T	0.72930	0.3522	L	0.38175	1.15	0.09310	N	1	P	0.47604	0.898	B	0.30029	0.11	T	0.65496	-0.6154	10	0.62326	D	0.03	6.4508	4.3984	0.11374	0.1478:0.4103:0.0:0.4419	.	166	P56715	RP1_HUMAN	M	166	ENSP00000220676:T166M	ENSP00000220676:T166M	T	+	2	0	RP1	55696576	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.109000	0.15417	-0.050000	0.13356	0.650000	0.86243	ACG		0.642	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		49	108	49	108
PARP10	84875	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	8	145057683	145057683	+	Missense_Mutation	SNP	G	G	A	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	ENST00000313028.7	-	8	2168	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_ENST00000533665.1_5'Flank|PARP10_ENST00000525773.1_Missense_Mutation_p.P704S|PARP10_ENST00000524918.1_Missense_Mutation_p.P683S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	692	Glu-rich.				negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein import into nucleus, translocation (GO:0033159)|negative regulation of protein K63-linked ubiquitination (GO:1900045)|negative regulation of viral genome replication (GO:0045071)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein poly-ADP-ribosylation (GO:0070212)|regulation of chromatin assembly (GO:0010847)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677													G|||	2	0.000399361	0.0008	0.0014	5008	,	,		17958	0.0		0.0	False		,,,				2504	0.0															0									SER/PRO	22,4378		0,22,2178	12.0	14.0	13.0		2074	1.3	0.0	8	dbSNP_134	13	0,8596		0,0,4298	yes	missense	PARP10	NM_032789.3	74	0,22,6476	AA,AG,GG		0.0,0.5,0.1693	benign	692/1026	145057683	22,12974	2200	4298	6498	SO:0001583	missense	84875			AK027370	CCDS34960.1	8q24	2010-02-16				ENSG00000178685		"""Poly (ADP-ribose) polymerases"""	25895	protein-coding gene	gene with protein product		609564				15273990	Standard	NM_032789		Approved	FLJ14464	uc003zal.4	Q53GL7		ENST00000313028.7:c.2074C>T	8.37:g.145057683G>A	ENSP00000325618:p.Pro692Ser		Q8N2I0|Q8WV05|Q96CH7|Q96K72	Missense_Mutation	SNP	ENST00000313028.7	37	CCDS34960.1	.	.	.	.	.	.	.	.	.	.	G	0.117	-1.130040	0.01756	0.005	0.0	ENSG00000178685	ENST00000524918;ENST00000534861;ENST00000313028;ENST00000525773	T;T;T	0.08807	3.05;3.05;3.05	3.22	1.26	0.21427	Ubiquitin interacting motif (1);	1.737490	0.03523	N	0.221362	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	B;B	0.23058	0.079;0.079	B;B	0.13407	0.009;0.009	T	0.36890	-0.9729	10	0.49607	T	0.09	.	7.7504	0.28894	0.0:0.0:0.5457:0.4543	.	704;692	E9PNI7;Q53GL7	.;PAR10_HUMAN	S	683;398;692;704	ENSP00000431620:P683S;ENSP00000325618:P692S;ENSP00000434776:P704S	ENSP00000325618:P692S	P	-	1	0	PARP10	145129671	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.170000	0.16663	0.329000	0.23460	0.574000	0.79327	CCG		0.677	PARP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383866.1	NM_032789		6	23	6	23
AKAP17A	8227	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	1720261	1720261	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:1720261G>A	ENST00000313871.3	+	5	2058	c.1862G>A	c.(1861-1863)cGg>cAg	p.R621Q		NM_005088.2	NP_005079.2	Q02040	AK17A_HUMAN	A kinase (PRKA) anchor protein 17A	621	Arg-rich.				B cell activation (GO:0042113)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)	nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein kinase A binding (GO:0051018)			breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)	26						CGCAAGGAGCGGCGGCCCCAC	0.731																																																0													18.0	28.0	25.0					X																	1720261		2184	4271	6455	SO:0001583	missense	8227			L03426	CCDS14116.1	Xp22.33 and Yp11.32	2010-09-08	2010-09-08	2010-09-08	ENSG00000197976	ENSG00000197976		"""Pseudoautosomal regions / PAR1"", ""A-kinase anchor proteins"""	18783	protein-coding gene	gene with protein product		312095, 465000	"""chromosome X and Y open reading frame 3"", ""splicing factor, arginine/serine-rich 17A"""	CXYorf3, SFRS17A		9736779, 1438229, 19840947	Standard	NR_027383		Approved	XE7, XE7Y, DXYS155E, MGC39904, 721P, CCDC133	uc004cqa.3	Q02040	OTTHUMG00000021063	ENST00000313871.3:c.1862G>A	X.37:g.1720261G>A	ENSP00000324827:p.Arg621Gln		Q02832|Q2TB98|Q5JQ74|Q5JQ76|Q8N6U9	Missense_Mutation	SNP	ENST00000313871.3	37	CCDS14116.1	.	.	.	.	.	.	.	.	.	.	g	11.33	1.607183	0.28623	.	.	ENSG00000197976	ENST00000313871	T	0.55234	0.53	1.41	1.41	0.22369	.	0.000000	0.34603	U	0.003834	T	0.34019	0.0883	.	.	.	0.09310	N	1	B	0.27882	0.192	B	0.17433	0.018	T	0.15694	-1.0428	9	0.44086	T	0.13	.	6.2489	0.20835	0.1668:0.0:0.8332:0.0	.	621	Q02040	AK17A_HUMAN	Q	621	ENSP00000324827:R621Q	ENSP00000324827:R621Q	R	+	2	0	AKAP17A	1680261	0.721000	0.28007	0.482000	0.27366	0.472000	0.32918	0.548000	0.23314	0.367000	0.24454	0.367000	0.22151	CGG		0.731	AKAP17A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055609.2	NM_005088		4	18	4	18
APEX2	27301	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	55033742	55033742	+	Silent	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	ENST00000374987.3	+	6	1497	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V	ALAS2_ENST00000498636.1_5'Flank	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	477					base-excision repair (GO:0006284)|cell cycle (GO:0007049)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA recombination (GO:0006310)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|zinc ion binding (GO:0008270)			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCATGTGTGATGCGTACTG	0.622								Other BER factors																																								0													28.0	23.0	25.0					X																	55033742		2203	4300	6503	SO:0001819	synonymous_variant	27301			AB021260	CCDS14365.1	Xp11.23	2014-02-18			ENSG00000169188	ENSG00000169188	4.2.99.18		17889	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 2"""	300773				11376153	Standard	NM_014481		Approved	APEXL2, APE2, XTH2, ZGRF2	uc004dtz.4	Q9UBZ4	OTTHUMG00000021642	ENST00000374987.3:c.1431G>T	X.37:g.55033742G>T			Q9Y5X7	Silent	SNP	ENST00000374987.3	37	CCDS14365.1																																																																																				0.622	APEX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056845.1			21	40	21	40
ZMYM3	9203	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	70464671	70464671	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	ENST00000353904.2	-	19	3267	c.3080C>G	c.(3079-3081)aCt>aGt	p.T1027S	ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S|ZMYM3_ENST00000373998.1_Missense_Mutation_p.T1015S|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1027					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T1027fs*9(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTGTTCAGTAGACACATC	0.478																																																1	Deletion - Frameshift(1)	prostate(1)											80.0	56.0	64.0					X																	70464671		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.3080C>G	X.37:g.70464671G>C	ENSP00000343909:p.Thr1027Ser		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	ENST00000353904.2	37	CCDS14409.1	.	.	.	.	.	.	.	.	.	.	g	11.25	1.584491	0.28268	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.43294	1.53;0.95;1.53;1.53;1.54	5.18	5.18	0.71444	.	0.183165	0.38605	N	0.001625	T	0.22627	0.0546	N	0.03608	-0.345	0.33007	D	0.527051	B;B	0.27117	0.168;0.105	B;B	0.29785	0.107;0.05	T	0.13176	-1.0519	10	0.09084	T	0.74	-2.3617	17.7983	0.88579	0.0:0.0:1.0:0.0	.	1015;1027	Q14202-2;Q14202	.;ZMYM3_HUMAN	S	1027;1015;1027;1029;1029	ENSP00000322845:T1027S;ENSP00000363110:T1015S;ENSP00000343909:T1027S;ENSP00000363096:T1029S;ENSP00000363100:T1029S	ENSP00000322845:T1027S	T	-	2	0	ZMYM3	70381396	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.882000	0.75589	2.391000	0.81399	0.506000	0.49869	ACT		0.478	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000057154.1	NM_201599		8	30	8	30
RPS4X	6191	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	71493768	71493768	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	ENST00000316084.6	-	5	519	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	139					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of cell proliferation (GO:0008284)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|ribosome (GO:0005840)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438																																																0													61.0	51.0	54.0					X																	71493768		2203	4300	6503	SO:0001583	missense	6191				CCDS14418.1	Xq13.1	2011-04-05			ENSG00000198034	ENSG00000198034		"""S ribosomal proteins"""	10424	protein-coding gene	gene with protein product	"""40S ribosomal protein S4, X isoform"", ""ribosomal protein S4X isoform"", ""single-copy abundant mRNA"", ""cell cycle gene 2"""	312760				1795030, 8139551	Standard	NM_001007		Approved	DXS306, CCG2, SCAR, SCR10, FLJ40595, RPS4, S4	uc004ear.3	P62701	OTTHUMG00000021813	ENST00000316084.6:c.415C>A	X.37:g.71493768G>T	ENSP00000362744:p.Leu139Met		P12631|P12750|P27576|P55831|Q14727|Q6IPY4	Missense_Mutation	SNP	ENST00000316084.6	37	CCDS14418.1	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666767	0.67814	.	.	ENSG00000198034	ENST00000316084	D	0.88277	-2.36	4.34	1.56	0.23342	Ribosomal protein S4e, central (2);	0.000000	0.56097	D	0.000025	D	0.93112	0.7807	M	0.88842	2.985	0.80722	D	1	P	0.49783	0.928	P	0.61132	0.884	D	0.90865	0.4741	10	0.87932	D	0	.	7.368	0.26785	0.3174:0.0:0.6826:0.0	.	139	P62701	RS4X_HUMAN	M	139	ENSP00000362744:L139M	ENSP00000362744:L139M	L	-	1	2	RPS4X	71410493	1.000000	0.71417	0.985000	0.45067	0.998000	0.95712	2.305000	0.43664	-0.025000	0.13918	0.600000	0.82982	CTG		0.438	RPS4X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057188.1	NM_001007		24	55	24	55
CYLC1	1538	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	83129576	83129576	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	ENST00000329312.4	+	4	1897	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	620	Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CATCACCAAAGGTCAGACGTC	0.433																																																0													72.0	61.0	64.0					X																	83129576		2202	4299	6501	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1860G>T	X.37:g.83129576G>T	ENSP00000331556:p.Lys620Asn		A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	1.687	-0.504963	0.04261	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.56941	0.43	3.48	2.6	0.31112	.	.	.	.	.	T	0.57344	0.2047	L	0.29908	0.895	0.09310	N	1	D;D	0.76494	0.997;0.999	D;D	0.70016	0.952;0.967	T	0.46816	-0.9164	9	0.72032	D	0.01	-0.6308	8.93	0.35663	0.1255:0.0:0.8745:0.0	.	620;620	P35663;F5H4V5	CYLC1_HUMAN;.	N	620	ENSP00000331556:K620N	ENSP00000331556:K620N	K	+	3	2	CYLC1	83016232	0.037000	0.19845	0.003000	0.11579	0.024000	0.10985	0.717000	0.25851	0.317000	0.23160	-1.231000	0.01572	AAG		0.433	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118		35	53	35	53
CPXCR1	53336	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	88009269	88009269	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	ENST00000276127.4	+	3	1113	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	285							metal ion binding (GO:0046872)			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303																																																0													43.0	43.0	43.0					X																	88009269		2202	4295	6497	SO:0001583	missense	53336			AL031116	CCDS14458.1	Xq21.3	2009-08-06			ENSG00000147183	ENSG00000147183			2332	protein-coding gene	gene with protein product	"""cancer/testis antigen 77"""					11499681	Standard	NM_033048		Approved	CT77	uc004efc.4	Q8N123	OTTHUMG00000021950	ENST00000276127.4:c.854T>A	X.37:g.88009269T>A	ENSP00000276127:p.Phe285Tyr		B2R9F9|D3DTE7|Q96RS3	Missense_Mutation	SNP	ENST00000276127.4	37	CCDS14458.1	.	.	.	.	.	.	.	.	.	.	T	15.30	2.793074	0.50102	.	.	ENSG00000147183	ENST00000276127;ENST00000373111	T;T	0.03745	3.82;3.82	3.57	3.57	0.40892	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);	0.160723	0.29814	N	0.011131	T	0.07593	0.0191	L	0.29908	0.895	0.09310	N	1	D	0.76494	0.999	D	0.68943	0.961	T	0.21518	-1.0243	9	.	.	.	-6.8672	7.7566	0.28927	0.0:0.0:0.0:1.0	.	285	Q8N123	CPXCR_HUMAN	Y	285	ENSP00000276127:F285Y;ENSP00000362203:F285Y	.	F	+	2	0	CPXCR1	87895925	0.119000	0.22226	0.016000	0.15963	0.003000	0.03518	1.745000	0.38278	1.646000	0.50622	0.481000	0.45027	TTT		0.303	CPXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057418.1	NM_033048		30	47	30	47
NKRF	55922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	118724016	118724016	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	ENST00000371527.1	-	2	2024	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	NKRF_ENST00000542113.1_Missense_Mutation_p.T473A|NKRF_ENST00000304449.5_Missense_Mutation_p.T458A|NKRF_ENST00000487600.1_Intron	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	458					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AACTGAGCTGTGTCGTTCAGC	0.428																																																0													102.0	95.0	98.0					X																	118724016		2203	4300	6503	SO:0001583	missense	55922			AJ011812	CCDS35375.1, CCDS55486.1	Xq24	2013-01-28	2008-03-26		ENSG00000186416	ENSG00000186416		"""G patch domain containing"""	19374	protein-coding gene	gene with protein product		300440	"""NF-kappaB repressing factor"""			10562553	Standard	NM_017544		Approved	ITBA4, NRF	uc022cdk.1	O15226	OTTHUMG00000022277	ENST00000371527.1:c.1372A>G	X.37:g.118724016T>C	ENSP00000360582:p.Thr458Ala		G3V1N1|Q4VC41|Q9UJ91	Missense_Mutation	SNP	ENST00000371527.1	37	CCDS35375.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048073	0.36085	.	.	ENSG00000186416	ENST00000371527;ENST00000304449;ENST00000542113	T;T;T	0.76186	-1.0;-1.0;-1.0	5.49	5.49	0.81192	Double-stranded RNA-binding (1);Double-stranded RNA-binding-like (1);	0.000000	0.85682	D	0.000000	T	0.73690	0.3619	M	0.65498	2.005	0.80722	D	1	P	0.39535	0.677	B	0.39904	0.313	T	0.75269	-0.3377	10	0.46703	T	0.11	-14.5382	13.7324	0.62797	0.0:0.0:0.0:1.0	.	458	O15226	NKRF_HUMAN	A	458;458;473	ENSP00000360582:T458A;ENSP00000304803:T458A;ENSP00000442308:T473A	ENSP00000304803:T458A	T	-	1	0	NKRF	118608044	1.000000	0.71417	1.000000	0.80357	0.812000	0.45895	7.661000	0.83786	1.839000	0.53478	0.486000	0.48141	ACA		0.428	NKRF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058044.1	NM_017544		52	140	52	140
BCORL1	63035	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	129147463	129147463	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	ENST00000218147.7	+	4	912	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I|BCORL1_ENST00000540052.1_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	239	Pro-rich.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTTGTTCCAGTCCAAGTTGC	0.637																																																0													152.0	137.0	142.0					X																	129147463		2203	4300	6503	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.715G>A	X.37:g.129147463G>A	ENSP00000218147:p.Val239Ile		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162859	0.38217	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.48836	0.82;1.2;0.8;0.82	3.33	3.33	0.38152	.	0.000000	0.32147	N	0.006508	T	0.23886	0.0578	N	0.08118	0	0.22940	N	0.998532	B;B	0.33171	0.4;0.279	B;B	0.30646	0.118;0.055	T	0.13308	-1.0514	9	.	.	.	-13.4409	10.8201	0.46599	0.0:0.1893:0.8107:0.0	.	239;239	Q5H9F3-2;Q5H9F3	.;BCORL_HUMAN	I	239	ENSP00000218147:V239I;ENSP00000307541:V239I;ENSP00000352253:V239I;ENSP00000437775:V239I	.	V	+	1	0	BCORL1	128975144	0.003000	0.15002	1.000000	0.80357	0.948000	0.59901	0.835000	0.27531	1.917000	0.55516	0.436000	0.28706	GTC		0.637	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1	NM_021946		92	185	92	185
SLC25A14	9016	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	129498601	129498601	+	Splice_Site	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	ENST00000218197.5	+	7	821		c.e7-1		SLC25A14_ENST00000467496.1_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000543953.1_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration (GO:0009060)|mitochondrial transport (GO:0006839)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408																																																0													200.0	150.0	167.0					X																	129498601		2203	4300	6503	SO:0001630	splice_region_variant	9016			AF078544	CCDS14623.1, CCDS14624.1, CCDS76020.1, CCDS76021.1	Xq24	2013-05-22			ENSG00000102078	ENSG00000102078		"""Solute carriers"""	10984	protein-coding gene	gene with protein product		300242				9852133	Standard	XM_005262485		Approved	BMCP1, UCP5	uc004evp.1	O95258	OTTHUMG00000022394	ENST00000218197.5:c.595-1G>A	X.37:g.129498601G>A			D3DTG2|Q0VDH7|Q9HC60|Q9HC61	Splice_Site	SNP	ENST00000218197.5	37	CCDS14623.1	.	.	.	.	.	.	.	.	.	.	G	17.31	3.358404	0.61403	.	.	ENSG00000102078	ENST00000545805;ENST00000543953;ENST00000218197;ENST00000361980;ENST00000339231	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.2746	0.82638	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC25A14	129326282	1.000000	0.71417	0.994000	0.49952	0.685000	0.39939	8.752000	0.91632	2.361000	0.80049	0.544000	0.68410	.		0.408	SLC25A14-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058253.1	NM_022810, NM_003951	Intron	41	99	41	99
IGSF1	3547	hgsc.bcm.edu;broad.mit.edu;ucsc.edu	37	X	130415782	130415782	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	ENST00000361420.3	-	8	1462	c.1383A>C	c.(1381-1383)caA>caC	p.Q461H	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000370904.1_Missense_Mutation_p.Q452H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	461	Ig-like C2-type 5.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAGAATTTTTGGAATGTTT	0.453																																																0													136.0	103.0	114.0					X																	130415782		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1383A>C	X.37:g.130415782T>G	ENSP00000355010:p.Gln461His		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	ENST00000361420.3	37	CCDS14629.1	.	.	.	.	.	.	.	.	.	.	T	3.811	-0.039752	0.07497	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.03212	4.01;4.01;4.01;4.01	4.35	0.42	0.16444	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.781155	0.11656	N	0.542290	T	0.02888	0.0086	L	0.45228	1.405	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.09377	0.002;0.004	T	0.48234	-0.9053	10	0.21014	T	0.42	.	0.8549	0.01180	0.1995:0.1133:0.2028:0.4843	.	452;461	Q8N6C5-2;Q8N6C5	.;IGSF1_HUMAN	H	452;461;452;461	ENSP00000359947:Q452H;ENSP00000355010:Q461H;ENSP00000359941:Q452H;ENSP00000359940:Q461H	ENSP00000355010:Q461H	Q	-	3	2	IGSF1	130243463	0.807000	0.29009	0.001000	0.08648	0.922000	0.55478	0.423000	0.21313	-0.022000	0.13986	0.481000	0.45027	CAA		0.453	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			41	53	41	53
SPEF2	79925	broad.mit.edu;ucsc.edu	37	5	35646854	35646854	+	Missense_Mutation	SNP	G	G	A	rs370674250		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	ENST00000356031.3	+	5	825	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000440995.2_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H	NM_024867.3	NP_079143.3	Q9C093	SPEF2_HUMAN	sperm flagellar 2	224					axoneme assembly (GO:0035082)|brain morphogenesis (GO:0048854)|embryonic neurocranium morphogenesis (GO:0048702)|fertilization (GO:0009566)|immune system development (GO:0002520)|multicellular organismal aging (GO:0010259)|respiratory system development (GO:0060541)|spermatogenesis (GO:0007283)	Golgi apparatus (GO:0005794)|manchette (GO:0002177)|sperm midpiece (GO:0097225)				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	37	all_lung(31;7.56e-05)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCATCAAATCGTACTTTGAAA	0.333																																																0								G	HIS/ARG,HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	94.0	92.0		671,671	4.0	1.0	5		92	0,8600		0,0,4300	no	missense,missense	SPEF2	NM_144722.3,NM_024867.3	29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	224/515,224/1823	35646854	1,13005	2203	4300	6503	SO:0001583	missense	79925			AB051557	CCDS3910.1, CCDS43309.1	5p13.2	2010-05-04			ENSG00000152582	ENSG00000152582			26293	protein-coding gene	gene with protein product	"""cancer/testis antigen 122"""	610172				11214970, 16549801, 17610085	Standard	NM_024867		Approved	KPL2, FLJ23577, CT122	uc003jjo.3	Q9C093	OTTHUMG00000131111	ENST00000356031.3:c.671G>A	5.37:g.35646854G>A	ENSP00000348314:p.Arg224His		Q2TAC9|Q96LL6|Q9H5C7|Q9H5Q7	Missense_Mutation	SNP	ENST00000356031.3	37	CCDS43309.1	.	.	.	.	.	.	.	.	.	.	G	10.80	1.453886	0.26161	2.27E-4	0.0	ENSG00000152582	ENST00000282469;ENST00000356031;ENST00000509059;ENST00000510777;ENST00000440995	T;T;T;T;T	0.31247	2.29;3.25;2.29;1.5;3.25	5.76	3.97	0.46021	.	0.614429	0.16968	N	0.192217	T	0.24470	0.0593	L	0.52364	1.645	0.80722	D	1	B;B;B	0.28850	0.225;0.036;0.017	B;B;B	0.17722	0.019;0.005;0.007	T	0.05068	-1.0908	10	0.49607	T	0.09	.	6.5831	0.22607	0.2549:0.1265:0.6186:0.0	.	224;224;224	D6REZ4;Q9C093;Q9C093-3	.;SPEF2_HUMAN;.	H	224;224;224;167;224	ENSP00000282469:R224H;ENSP00000348314:R224H;ENSP00000421593:R224H;ENSP00000426259:R167H;ENSP00000412125:R224H	ENSP00000282469:R224H	R	+	2	0	SPEF2	35682611	0.160000	0.22878	0.996000	0.52242	0.333000	0.28666	1.308000	0.33528	0.782000	0.33613	-0.140000	0.14226	CGT		0.333	SPEF2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367199.1	NM_144722		41	83	41	83
THSD7B	80731	broad.mit.edu;ucsc.edu	37	2	138378230	138378230	+	Missense_Mutation	SNP	G	G	A	rs370520413		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	ENST00000409968.1	+	20	3911	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1247	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTGGAATGCGTGGTCAACTG	0.468													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18436	0.0		0.0	False		,,,				2504	0.0															0								G	MET/VAL	7,3857		0,7,1925	196.0	188.0	191.0		3646	3.8	1.0	2		191	0,8314		0,0,4157	no	missense	THSD7B	NM_001080427.1	21	0,7,6082	AA,AG,GG		0.0,0.1812,0.0575	probably-damaging	1216/1578	138378230	7,12171	1932	4157	6089	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.3733G>A	2.37:g.138378230G>A	ENSP00000387145:p.Val1245Met			Missense_Mutation	SNP	ENST00000409968.1	37		.	.	.	.	.	.	.	.	.	.	G	10.68	1.419463	0.25552	0.001812	0.0	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.22945	2.45;2.33;1.93	4.71	3.82	0.43975	.	0.395303	0.28436	N	0.015344	T	0.24044	0.0582	L	0.44542	1.39	0.80722	D	1	B	0.25809	0.135	B	0.17098	0.017	T	0.02958	-1.1089	10	0.59425	D	0.04	.	15.302	0.73958	0.0777:0.0:0.9223:0.0	.	1217	C9JKN6	.	M	1245;1248;1217	ENSP00000387145:V1245M;ENSP00000272643:V1248M;ENSP00000413841:V1217M	ENSP00000272643:V1248M	V	+	1	0	THSD7B	138094700	0.997000	0.39634	0.998000	0.56505	0.677000	0.39632	1.903000	0.39858	0.715000	0.32103	-0.813000	0.03139	GTG		0.468	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		63	114	63	114
MKNK2	2872	broad.mit.edu;ucsc.edu	37	19	2043519	2043519	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	ENST00000591601.1	-	5	437	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_ENST00000588014.1_5'Flank|MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591588.1_5'Flank|MKNK2_ENST00000309340.7_Silent_p.Y134Y|MKNK2_ENST00000591142.1_5'Flank|MKNK2_ENST00000250896.3_Silent_p.Y134Y			Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|cellular response to arsenic-containing substance (GO:0071243)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|hemopoiesis (GO:0030097)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of translation (GO:0006417)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGGCACTGGTACAGCATCT	0.587																																																0													159.0	109.0	126.0					19																	2043519		2203	4300	6503	SO:0001819	synonymous_variant	2872			AF125532	CCDS12079.1, CCDS12080.1	19p13.3	2012-12-20			ENSG00000099875	ENSG00000099875			7111	protein-coding gene	gene with protein product	"""Putative map kinase interacting kinase"""	605069	"""G protein-coupled receptor kinase 7"""	GPRK7		11013076	Standard	NM_199054		Approved	MNK2	uc002lus.2	Q9HBH9	OTTHUMG00000180020	ENST00000591601.1:c.402C>T	19.37:g.2043519G>A			Q6GPI3|Q9HBH8|Q9UHR0|Q9Y2N6	Silent	SNP	ENST00000591601.1	37	CCDS12080.1																																																																																				0.587	MKNK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000449312.1	NM_199054		20	62	20	62
CYP1A2	1544	broad.mit.edu;ucsc.edu	37	15	75042332	75042332	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	ENST00000343932.4	+	2	316	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	85					alkaloid metabolic process (GO:0009820)|arachidonic acid metabolic process (GO:0019369)|cellular respiration (GO:0045333)|cellular response to cadmium ion (GO:0071276)|dibenzo-p-dioxin metabolic process (GO:0018894)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|hydrogen peroxide biosynthetic process (GO:0050665)|lung development (GO:0030324)|methylation (GO:0032259)|monocarboxylic acid metabolic process (GO:0032787)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|oxidative deethylation (GO:0071615)|oxidative demethylation (GO:0070989)|porphyrin-containing compound metabolic process (GO:0006778)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|small molecule metabolic process (GO:0044281)|steroid catabolic process (GO:0006706)|toxin biosynthetic process (GO:0009403)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|demethylase activity (GO:0032451)|electron carrier activity (GO:0009055)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					"""""""Insulin(DB00071)|Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Agomelatine(DB06594)|Albendazole(DB00518)|Alitretinoin(DB00523)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Aminophylline(DB01223)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Anagrelide(DB00261)|Anastrozole(DB01217)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Asenapine(DB06216)|Atropine(DB00572)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzyl alcohol(DB06770)|Betaxolol(DB00195)|Bortezomib(DB00188)|Bromazepam(DB01558)|Bromocriptine(DB01200)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Caffeine(DB00201)|Carbamazepine(DB00564)|Carmustine(DB00262)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clenbuterol(DB01407)|Clevidipine(DB04920)|Clobetasol propionate(DB01013)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Diazepam(DB00829)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Edetic Acid(DB00974)|Efavirenz(DB00625)|Eltrombopag(DB06210)|Enoxacin(DB00467)|Epinephrine(DB00668)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Estropipate(DB04574)|Ethanol(DB00898)|Etoposide(DB00773)|Etoricoxib(DB01628)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluorouracil(DB00544)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Gemfibrozil(DB01241)|Griseofulvin(DB00400)|Guanabenz(DB00629)|Haloperidol(DB00502)|Hesperetin(DB01094)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Imiquimod(DB00724)|inhaled insulin(DB05278)|Insulin Aspart(DB01306)|Insulin Detemir(DB01307)|Insulin Glargine(DB00047)|Insulin Glulisine(DB01309)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Losartan(DB00678)|Lumiracoxib(DB01283)|Malathion(DB00772)|Maprotiline(DB00934)|Meclizine(DB00737)|Melatonin(DB01065)|Menadione(DB00170)|Methadone(DB00333)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxsalen(DB00553)|Methoxyflurane(DB01028)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Modafinil(DB00745)|Nabumetone(DB00461)|Nafcillin(DB00607)|Naproxen(DB00788)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niclosamide(DB06803)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitric Oxide(DB00435)|Nitroprusside(DB00325)|Norepinephrine(DB00368)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxaliplatin(DB00526)|Oxtriphylline(DB01303)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pefloxacin(DB00487)|Pentamidine(DB00738)|Pentoxifylline(DB00806)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pimozide(DB01100)|Pipotiazine(DB01621)|Pomalidomide(DB08910)|Praziquantel(DB01058)|Primaquine(DB01087)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Pyrazinamide(DB00339)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifabutin(DB00615)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rizatriptan(DB00953)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Roxithromycin(DB00778)|Secobarbital(DB00418)|Selegiline(DB01037)|Sertraline(DB01104)|SIMEPREVIR(DB06290)|Sorafenib(DB00398)|Streptozocin(DB00428)|Sulindac(DB00605)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Tenofovir(DB00300)|Terbinafine(DB00857)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiabendazole(DB00730)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tizanidine(DB00697)|Tocainide(DB01056)|Toremifene(DB00539)|Tranylcypromine(DB00752)|Triamterene(DB00384)|Trifluoperazine(DB00831)|Valproic Acid(DB00313)|Vemurafenib(DB08881)|Verapamil(DB00661)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)|Zolpidem(DB00425)"""	CTCCACGCCCGTGCTGGTGCT	0.667																																																0													50.0	45.0	47.0					15																	75042332		2197	4296	6493	SO:0001583	missense	1544			AF182274	CCDS32293.1	15q24.1	2013-11-11	2003-01-14		ENSG00000140505	ENSG00000140505	1.14.14.1	"""Cytochrome P450s"""	2596	protein-coding gene	gene with protein product		124060	"""cytochrome P450, subfamily I (aromatic compound-inducible), polypeptide 2"""			15128046	Standard	NM_000761		Approved	P3-450, CP12	uc002ayr.1	P05177	OTTHUMG00000172901	ENST00000343932.4:c.253G>A	15.37:g.75042332G>A	ENSP00000342007:p.Val85Met		Q16754|Q6NWU5|Q9BXX7|Q9UK49	Missense_Mutation	SNP	ENST00000343932.4	37	CCDS32293.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.405816	0.83230	.	.	ENSG00000140505	ENST00000343932	T	0.69175	-0.38	4.98	4.98	0.66077	.	0.054494	0.64402	D	0.000001	D	0.83046	0.5169	M	0.88775	2.98	0.58432	D	0.999995	D	0.89917	1.0	D	0.83275	0.996	D	0.85526	0.1206	10	0.72032	D	0.01	.	11.8463	0.52387	0.0799:0.0:0.92:0.0	.	85	P05177-2	.	M	85	ENSP00000342007:V85M	ENSP00000342007:V85M	V	+	1	0	CYP1A2	72829385	1.000000	0.71417	0.958000	0.39756	0.913000	0.54294	7.541000	0.82084	2.580000	0.87095	0.561000	0.74099	GTG		0.667	CYP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421263.2	NM_000761		30	58	30	58
LRP2	4036	broad.mit.edu;ucsc.edu	37	2	170038807	170038807	+	Missense_Mutation	SNP	G	G	A	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	ENST00000263816.3	-	51	10153	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3290					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.R3290C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	CCATCCAGGCGGGCATCCAAC	0.502																																																1	Substitution - Missense(1)	prostate(1)						G	CYS/ARG	0,4406		0,0,2203	108.0	112.0	111.0		9868	-12.1	0.0	2	dbSNP_134	111	1,8599	1.2+/-3.3	0,1,4299	no	missense	LRP2	NM_004525.2	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3290/4656	170038807	1,13005	2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.9868C>T	2.37:g.170038807G>A	ENSP00000263816:p.Arg3290Cys		O00711|Q16215	Missense_Mutation	SNP	ENST00000263816.3	37	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	12.27	1.888098	0.33348	0.0	1.16E-4	ENSG00000081479	ENST00000263816	D	0.96365	-3.99	6.03	-12.1	0.00011	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	1.295090	0.04551	N	0.389880	D	0.88463	0.6443	L	0.36672	1.1	0.32218	N	0.575648	B	0.28900	0.227	B	0.19148	0.024	T	0.73043	-0.4107	10	0.40728	T	0.16	.	0.3943	0.00415	0.3835:0.1711:0.1592:0.2862	.	3290	P98164	LRP2_HUMAN	C	3290	ENSP00000263816:R3290C	ENSP00000263816:R3290C	R	-	1	0	LRP2	169747053	0.003000	0.15002	0.000000	0.03702	0.322000	0.28314	0.138000	0.16016	-2.310000	0.00650	-0.140000	0.14226	CGC		0.502	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		29	108	29	108
MUC6	4588	broad.mit.edu;ucsc.edu	37	11	1026378	1026378	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	ENST00000421673.2	-	20	2545	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	832					cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652																																																0													37.0	43.0	41.0					11																	1026378		1979	4150	6129	SO:0001583	missense	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.2495C>T	11.37:g.1026378G>A	ENSP00000406861:p.Ser832Leu		O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Missense_Mutation	SNP	ENST00000421673.2	37	CCDS44513.1	.	.	.	.	.	.	.	.	.	.	G	8.230	0.804440	0.16467	.	.	ENSG00000184956	ENST00000421673	T	0.22336	1.96	3.48	2.47	0.30058	.	.	.	.	.	T	0.17365	0.0417	L	0.55213	1.73	0.09310	N	0.99999	P	0.39665	0.682	B	0.26094	0.066	T	0.07849	-1.0751	9	0.52906	T	0.07	.	11.3995	0.49862	0.0:0.618:0.382:0.0	.	832	Q6W4X9	MUC6_HUMAN	L	832	ENSP00000406861:S832L	ENSP00000406861:S832L	S	-	2	0	MUC6	1016378	0.010000	0.17322	0.017000	0.16124	0.009000	0.06853	0.561000	0.23515	0.782000	0.33613	0.561000	0.74099	TCG		0.652	MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540		17	24	17	24
IGSF1	3547	broad.mit.edu;ucsc.edu	37	X	130413285	130413285	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	ENST00000361420.3	-	10	1756	c.1677G>A	c.(1675-1677)ggG>ggA	p.G559G	IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000370904.1_Silent_p.G550G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	559					regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCATGGTGACCCCTTGAGCTG	0.617																																																0													56.0	50.0	52.0					X																	130413285		2203	4300	6503	SO:0001819	synonymous_variant	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1677G>A	X.37:g.130413285C>T			B5MEG2|H9KV64|O15070|Q9NTC8	Silent	SNP	ENST00000361420.3	37	CCDS14629.1																																																																																				0.617	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058288.1			27	58	27	58
ADAMTS12	81792	broad.mit.edu;ucsc.edu	37	5	33683148	33683148	+	Missense_Mutation	SNP	C	C	T	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	ENST00000504830.1	-	5	1225	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	297	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAATGAGCCGAACCACAAC	0.433										HNSCC(64;0.19)																																						0								C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	110.0	100.0	103.0		890	5.6	1.0	5	dbSNP_129	103	0,8600		0,0,4300	no	missense	ADAMTS12	NM_030955.2	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	297/1595	33683148	1,13005	2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.890G>A	5.37:g.33683148C>T	ENSP00000422554:p.Arg297Gln		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	C	36	5.807041	0.96967	2.27E-4	0.0	ENSG00000151388	ENST00000504830;ENST00000352040	D;D	0.87179	-2.22;-2.22	5.56	5.56	0.83823	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	D	0.95526	0.8546	M	0.94021	3.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.96075	0.9049	10	0.66056	D	0.02	.	19.5316	0.95231	0.0:1.0:0.0:0.0	rs61754760	297;297	P58397-3;P58397	.;ATS12_HUMAN	Q	297	ENSP00000422554:R297Q;ENSP00000344847:R297Q	ENSP00000344847:R297Q	R	-	2	0	ADAMTS12	33718905	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.494000	0.81503	2.615000	0.88500	0.637000	0.83480	CGG		0.433	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		21	53	21	53
FAM71B	153745	broad.mit.edu;ucsc.edu	37	5	156590151	156590151	+	Silent	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582																																																0													41.0	43.0	42.0					5																	156590151		2203	4300	6503	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1125G>A	5.37:g.156590151C>T			Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.582	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899		22	55	22	55
LNX1	84708	broad.mit.edu;ucsc.edu	37	4	54327127	54327127	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	ENST00000263925.7	-	11	2448	c.2134C>T	c.(2134-2136)Ctt>Ttt	p.L712F	LNX1_ENST00000306888.2_Missense_Mutation_p.L616F|FIP1L1_ENST00000507166.1_Intron	NM_001126328.2	NP_001119800.1	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	712	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCCTTTAAGTTCTTTCAGC	0.343																																																0													109.0	110.0	110.0					4																	54327127		2203	4300	6503	SO:0001583	missense	84708			AF237782	CCDS3492.1, CCDS47057.1	4q12	2013-01-09	2012-02-23	2005-11-04	ENSG00000072201	ENSG00000072201		"""RING-type (C3HC4) zinc fingers"""	6657	protein-coding gene	gene with protein product		609732	"""ligand of numb-protein X"", ""ligand of numb-protein X 1"""	LNX		11521506, 11782429	Standard	NM_032622		Approved	MPDZ, PDZRN2	uc003hag.5	Q8TBB1	OTTHUMG00000102099	ENST00000263925.7:c.2134C>T	4.37:g.54327127G>A	ENSP00000263925:p.Leu712Phe		Q4W5K7|Q8N4C2|Q96MJ7|Q9BY20	Missense_Mutation	SNP	ENST00000263925.7	37	CCDS47057.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.550299	0.65311	.	.	ENSG00000072201	ENST00000306888;ENST00000538207;ENST00000263925	T;T	0.27890	1.64;1.64	4.93	3.15	0.36227	PDZ/DHR/GLGF (4);	0.070363	0.64402	D	0.000015	T	0.42494	0.1205	L	0.47190	1.495	0.52099	D	0.999944	D;D	0.67145	0.996;0.975	D;P	0.70935	0.971;0.861	T	0.26608	-1.0098	10	0.54805	T	0.06	.	8.1182	0.30955	0.0755:0.0:0.6419:0.2826	.	712;616	Q8TBB1;Q8TBB1-2	LNX1_HUMAN;.	F	616;550;712	ENSP00000302879:L616F;ENSP00000263925:L712F	ENSP00000263925:L712F	L	-	1	0	LNX1	54021884	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	4.749000	0.62155	1.402000	0.46780	0.460000	0.39030	CTT		0.343	LNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219934.2			33	54	33	54
LOC100420587	100420587	broad.mit.edu;ucsc.edu	37	19	29215151	29215151	+	lincRNA	SNP	G	G	A	rs151046529		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:29215151G>A	ENST00000592347.1	-	0	390																											CAGACTGTCCGCCATCCAGAT	0.443													g|||	1	0.000199681	0.0	0.0	5008	,	,		17748	0.001		0.0	False		,,,				2504	0.0															0																																												0																															19.37:g.29215151G>A				RNA	SNP	ENST00000592347.1	37																																																																																					0.443	AC005307.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453069.1			10	41	10	41
CACNA2D4	93589	broad.mit.edu;ucsc.edu	37	12	1995491	1995491	+	Silent	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	ENST00000382722.5	-	8	1253	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_ENST00000586184.1_Silent_p.D297D|CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	297	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488																																					Colon(2;101 179 21030 23310 28141)											0													115.0	113.0	113.0					12																	1995491		2087	4211	6298	SO:0001819	synonymous_variant	93589			AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.891C>T	12.37:g.1995491G>A			Q7Z3S8|Q86XZ5|Q8IZS9	Silent	SNP	ENST00000382722.5	37	CCDS44785.1																																																																																				0.488	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			29	42	29	42
ATP1A2	477	broad.mit.edu;ucsc.edu	37	1	160099056	160099056	+	Splice_Site	SNP	C	C	T			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	ENST00000361216.3	+	11	1416	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	ATP1A2_ENST00000392233.3_Splice_Site_p.R443W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	443					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557																																																0													153.0	153.0	153.0					1																	160099056		2203	4300	6503	SO:0001630	splice_region_variant	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.1327-1C>T	1.37:g.160099056C>T			D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Splice_Site	SNP	ENST00000361216.3	37	CCDS1196.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.824677	0.71143	.	.	ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866	D;D	0.96554	-4.05;-4.05	4.66	4.66	0.58398	ATPase, cation-transporting, domain N (1);Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.054442	0.64402	D	0.000001	D	0.91280	0.7251	L	0.33293	1	0.58432	D	0.999998	P;P;P	0.46656	0.882;0.857;0.882	P;B;P	0.46237	0.508;0.374;0.508	D	0.90290	0.4322	9	.	.	.	.	10.6605	0.45700	0.3085:0.6915:0.0:0.0	.	443;343;443	B1AKY9;F5GXJ7;P50993	.;.;AT1A2_HUMAN	W	443;443;146	ENSP00000354490:R443W;ENSP00000376066:R443W	.	R	+	1	2	ATP1A2	158365680	0.997000	0.39634	1.000000	0.80357	0.976000	0.68499	0.550000	0.23345	2.306000	0.77630	0.561000	0.74099	CGG		0.557	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060642.2	NM_000702	Missense_Mutation	87	173	87	173
RIPK4	54101	broad.mit.edu;ucsc.edu	37	21	43161012	43161012	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:43161012G>A	ENST00000352483.2	-	9	2549	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*			P57078	RIPK4_HUMAN	receptor-interacting serine-threonine kinase 4	829					morphogenesis of an epithelium (GO:0002009)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCTTGCTTCGCCGCAGGAGC	0.672																																																0													22.0	24.0	23.0					21																	43161012		2194	4270	6464	SO:0001587	stop_gained	54101			AJ278016	CCDS13675.1	21q22.3	2013-01-10	2004-07-06	2004-07-06	ENSG00000183421	ENSG00000183421		"""Ankyrin repeat domain containing"""	496	protein-coding gene	gene with protein product	"""protein kinase C-associated kinase"", ""PKC-delta-interacting protein kinase"""	605706	"""ankyrin repeat domain 3"""	ANKRD3		10830953	Standard	NM_020639		Approved	DIK, ANKK2, RIP4, PKK	uc002yzn.1	P57078	OTTHUMG00000086770	ENST00000352483.2:c.2485C>T	21.37:g.43161012G>A	ENSP00000330161:p.Arg829*		Q96KH0	Nonsense_Mutation	SNP	ENST00000352483.2	37		.	.	.	.	.	.	.	.	.	.	G	21.1	4.100704	0.76983	.	.	ENSG00000183421	ENST00000332512;ENST00000352483;ENST00000544709;ENST00000542057	.	.	.	4.8	1.8	0.24995	.	0.142088	0.31636	N	0.007309	.	.	.	.	.	.	0.21355	N	0.999714	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.7071	3.6278	0.08120	0.0831:0.1329:0.4567:0.3272	.	.	.	.	X	781;829;718;718	.	ENSP00000332454:R781X	R	-	1	2	RIPK4	42034081	0.001000	0.12720	0.002000	0.10522	0.011000	0.07611	0.273000	0.18662	0.051000	0.15978	-0.137000	0.14449	CGA		0.672	RIPK4-201	KNOWN	basic	protein_coding	protein_coding		NM_020639		17	42	17	42
EGFR	1956	broad.mit.edu	37	7	55260473	55260473	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55260473G>A	ENST00000275493.2	+	22	2817	c.2640G>A	c.(2638-2640)tgG>tgA	p.W880*	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*|EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	880	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				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)			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)	CTATCAAGTGGATGGCATTGG	0.433		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"""	0													122.0	108.0	113.0					7																	55260473		2203	4300	6503	SO:0001587	stop_gained	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.2640G>A	7.37:g.55260473G>A	ENSP00000275493:p.Trp880*		O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Nonsense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	G	40	8.489075	0.98834	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.3896	0.90478	0.0:0.0:1.0:0.0	.	.	.	.	X	835;750;880;827	.	ENSP00000275493:W880X	W	+	3	0	EGFR	55227967	1.000000	0.71417	1.000000	0.80357	0.026000	0.11368	9.712000	0.98738	2.680000	0.91292	0.561000	0.74099	TGG		0.433	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		44	1857	44	1857
