#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_BAM_File	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_EVS_AA	i_EVS_All	i_EVS_EA	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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
C9orf66	157983	genome.wustl.edu	37	9	214549	214550	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr9:214549_214550insG	ENST00000382387.2	-	1	1343_1344	c.847_848insC	c.(847-849)cacfs	p.H283fs	DOCK8_ENST00000432829.2_5'Flank|DOCK8_ENST00000453981.1_5'Flank	NM_152569.2	NP_689782.2	Q5T8R8	CI066_HUMAN	chromosome 9 open reading frame 66	283										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GCCAGCTTTGTGGGGCTCCCCC	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055720	CCDS6439.1	9p24.3	2008-02-05			ENSG00000183784	ENSG00000183784			26436	protein-coding gene	gene with protein product							Standard	NM_152569		Approved	FLJ31158	uc003zge.4	Q5T8R8	OTTHUMG00000021017	ENST00000382387.2:c.848dupC	9.37:g.214553_214553dupG	ENSP00000371824:p.His283fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96NB0	Frame_Shift_Ins	INS	NULL	p.H283fs	ENST00000382387.2	37	c.848_847	CCDS6439.1	9																																																																																			C9orf66	-	NULL	ENSG00000183784		0.594	C9orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf66	HGNC	protein_coding	OTTHUMT00000055436.1	18	0.00	0	-	NM_152569		214549	214550	-1	no_errors	ENST00000382387	ensembl	human	known	69_37n	frame_shift_ins	28	22.22	8	INS	0.000:0.000	G
CSMD3	114788	genome.wustl.edu	37	8	113299452	113299452	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr8:113299452C>T	ENST00000297405.5	-	58	9416	c.9172G>A	c.(9172-9174)Gat>Aat	p.D3058N	CSMD3_ENST00000455883.2_Missense_Mutation_p.D2889N|CSMD3_ENST00000343508.3_Missense_Mutation_p.D3018N|CSMD3_ENST00000352409.3_Missense_Mutation_p.D2988N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3058	Sushi 22. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D3058N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTACCTGGATCGCCACATGTC	0.443										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												dbGAP											1	Substitution - Missense(1)	skin(1)											113.0	103.0	106.0					8																	113299452		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9172G>A	8.37:g.113299452C>T	ENSP00000297405:p.Asp3058Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.D3058N	ENST00000297405.5	37	c.9172	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	28.8	4.952149	0.92660	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.22	5.22	0.72569	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.73938	0.3651	L	0.52266	1.64	0.54753	D	0.999988	P;P;D	0.76494	0.939;0.854;0.999	P;B;D	0.69142	0.481;0.443;0.962	T	0.69232	-0.5199	10	0.27785	T	0.31	.	19.2093	0.93747	0.0:1.0:0.0:0.0	.	2889;3058;3018	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	N	3018;3058;2328;2889;2988	ENSP00000345799:D3018N;ENSP00000297405:D3058N;ENSP00000341558:D2328N;ENSP00000412263:D2889N;ENSP00000343124:D2988N	ENSP00000297405:D3058N	D	-	1	0	CSMD3	113368628	1.000000	0.71417	0.996000	0.52242	0.642000	0.38348	7.583000	0.82559	2.614000	0.88457	0.644000	0.83932	GAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000164796		0.443	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	36	0.00	0	C	NM_052900		113299452	113299452	-1	no_errors	ENST00000297405	ensembl	human	known	69_37n	missense	72	27.27	27	SNP	1.000	T
DIAPH3	81624	genome.wustl.edu	37	13	60435515	60435515	+	Intron	SNP	G	G	A			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr13:60435515G>A	ENST00000400324.4	-	22	2958				DIAPH3_ENST00000400319.1_Intron|DIAPH3_ENST00000400320.1_Intron|DIAPH3_ENST00000267215.4_Intron|DIAPH3_ENST00000465066.1_Intron|DIAPH3_ENST00000400330.1_Intron|DIAPH3_ENST00000377908.2_Intron	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3						actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCAGAGCCATGAAATGTTTCT	0.323																																						dbGAP											0													92.0	84.0	87.0					13																	60435515		1813	4087	5900	-	-	-	SO:0001627	intron_variant	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2737+25C>T	13.37:g.60435515G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	RNA	SNP	-	NULL	ENST00000400324.4	37	NULL	CCDS41898.1	13																																																																																			DIAPH3	-	-	ENSG00000139734		0.323	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	58	0.00	0	G	NM_001042517		60435515	60435515	-1	no_errors	ENST00000498416	ensembl	human	known	69_37n	rna	108	21.74	30	SNP	0.000	A
ERBB2	2064	genome.wustl.edu	37	17	37880261	37880261	+	Missense_Mutation	SNP	G	G	T	rs121913468		TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr17:37880261G>T	ENST00000269571.5	+	19	2464	c.2305G>T	c.(2305-2307)Gac>Tac	p.D769Y	MIR4728_ENST00000580969.1_RNA|ERBB2_ENST00000541774.1_Missense_Mutation_p.D754Y|ERBB2_ENST00000445658.2_Missense_Mutation_p.D493Y|ERBB2_ENST00000584601.1_Missense_Mutation_p.D739Y|ERBB2_ENST00000406381.2_Missense_Mutation_p.D739Y|ERBB2_ENST00000540147.1_Missense_Mutation_p.D739Y|ERBB2_ENST00000584450.1_Missense_Mutation_p.D769Y			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	769	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)	p.D769H(2)		NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	AGAAATCTTAGACGTAAGCCC	0.532		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																												dbGAP		Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	2	Substitution - Missense(2)	stomach(1)|lung(1)											95.0	82.0	86.0					17																	37880261		2203	4300	6503	-	-	-	SO:0001583	missense	0			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.2305G>T	17.37:g.37880261G>T	ENSP00000269571:p.Asp769Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D769Y	ENST00000269571.5	37	c.2305	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.121341	0.94385	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	D;D;D;D;D	0.82893	-1.66;-1.66;-1.66;-1.66;-1.66	5.02	5.02	0.67125	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	.	.	.	.	D	0.88036	0.6329	L	0.41906	1.305	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.89478	0.3748	9	0.87932	D	0	.	17.957	0.89072	0.0:0.0:1.0:0.0	.	493;754;769	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	Y	739;754;493;769;739	ENSP00000385185:D739Y;ENSP00000446466:D754Y;ENSP00000404047:D493Y;ENSP00000269571:D769Y;ENSP00000443562:D739Y	ENSP00000269571:D769Y	D	+	1	0	ERBB2	35133787	1.000000	0.71417	0.999000	0.59377	0.933000	0.57130	9.869000	0.99810	2.329000	0.79093	0.462000	0.41574	GAC	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000141736		0.532	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	37	0.00	0	G			37880261	37880261	+1	no_errors	ENST00000269571	ensembl	human	known	69_37n	missense	92	14.02	15	SNP	1.000	T
GON4L	54856	genome.wustl.edu	37	1	155753682	155753682	+	Intron	SNP	T	T	G			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr1:155753682T>G	ENST00000368331.1	-	14	1941				GON4L_ENST00000437809.1_Intron|GON4L_ENST00000271883.5_Intron|GON4L_ENST00000361040.5_Intron|GON4L_ENST00000471341.1_Intron	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)						regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGAAGCTGGTTTGGGATGAA	0.423																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1892+94A>C	1.37:g.155753682T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Splice_Site	SNP	-	NULL	ENST00000368331.1	37	c.NULL		1																																																																																			GON4L	-	-	ENSG00000116580		0.423	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		16	0.00	0	T	NM_032292		155753682	155753682	-1	no_errors	ENST00000477831	ensembl	human	known	69_37n	splice_site	11	69.44	25	SNP	0.000	G
APEH	327	genome.wustl.edu	37	3	49723916	49723916	+	IGR	SNP	T	T	G	rs201139286	byFrequency	TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr3:49723916T>G	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Splice_Site|MST1_ENST00000383728.3_Splice_Site|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000545762.1_Splice_Site|MST1_ENST00000494828.2_5'Flank	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGGACCCTTAGATGGACC	0.657																																						dbGAP											0													27.0	29.0	28.0					3																	49723916		2202	4296	6498	-	-	-	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723916T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BQ33|Q9P0Y2	Splice_Site	SNP	-	e8-2	ENST00000296456.5	37	c.848-2	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	T	13.62	2.290595	0.40494	.	.	ENSG00000173531	ENST00000449682;ENST00000383728	.	.	.	4.94	3.61	0.41365	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1429	0.31093	0.0:0.1325:0.0:0.8675	.	.	.	.	.	-1	.	.	.	-	.	.	MST1	49698920	0.505000	0.26131	0.435000	0.26784	0.223000	0.24884	2.574000	0.46016	1.984000	0.57885	0.533000	0.62120	.	MST1	-	-	ENSG00000173531		0.657	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	32	0.00	0	T			49723916	49723916	-1	no_errors	ENST00000449682	ensembl	human	known	69_37n	splice_site	28	15.15	5	SNP	0.527	G
MUC1	4582	genome.wustl.edu	37	1	155160715	155160715	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr1:155160715T>C	ENST00000368395.1	-	3	883	c.812A>G	c.(811-813)aAc>aGc	p.N271S	MUC1_ENST00000368390.3_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000337604.5_Missense_Mutation_p.N69S|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368389.2_Missense_Mutation_p.N69S|MUC1_ENST00000368393.3_Missense_Mutation_p.N69S|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000462215.1_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1051	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.				cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAACTGGAGGTTTGAAATGTG	0.488			T	IGH@	B-NHL																																	dbGAP		Dom	yes		1	1q21	4582	"""mucin 1, transmembrane"""		L	0													78.0	87.0	84.0					1																	155160715		2200	4300	6500	-	-	-	SO:0001583	missense	0			J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.812A>G	1.37:g.155160715T>C	ENSP00000357380:p.Asn271Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.N357S	ENST00000368395.1	37	c.1070	CCDS55640.1	1	.	.	.	.	.	.	.	.	.	.	T	15.23	2.771287	0.49680	.	.	ENSG00000185499	ENST00000368395;ENST00000368393;ENST00000425082;ENST00000368389;ENST00000337604	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	3.77	3.77	0.43336	.	0.000000	0.40144	N	0.001168	T	0.50803	0.1637	M	0.62723	1.935	0.28694	N	0.904432	D;D;D;D;D;D;D;D;D;D;D;D	0.76494	0.998;0.999;0.999;0.986;0.986;0.961;0.972;0.999;0.999;0.999;0.999;0.999	D;D;D;D;D;P;D;D;D;D;D;D	0.83275	0.991;0.992;0.992;0.925;0.93;0.857;0.93;0.995;0.995;0.996;0.995;0.995	T	0.44772	-0.9306	10	0.87932	D	0	-36.6892	9.4707	0.38839	0.0:0.0:0.0:1.0	.	1060;1048;69;1039;357;357;271;78;78;69;69;69	P15941-2;P15941-3;P15941-8;P15941-4;B4DWK6;E7EUW3;B1AVQ5;A5YRU5;A6ZIE6;A6ZID9;B1AVR0;B1AVQ8	.;.;.;.;.;.;.;.;.;.;.;.	S	271;69;357;69;69	ENSP00000357380:N271S;ENSP00000357378:N69S;ENSP00000357374:N69S;ENSP00000338983:N69S	ENSP00000338983:N69S	N	-	2	0	MUC1	153427339	0.992000	0.36948	0.448000	0.26945	0.013000	0.08279	2.661000	0.46758	1.673000	0.50895	0.383000	0.25322	AAC	MUC1	-	pfam_SEA,smart_SEA,pfscan_SEA	ENSG00000185499		0.488	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC1	HGNC	protein_coding	OTTHUMT00000086735.1	32	0.00	0	T	NM_002456		155160715	155160715	-1	no_errors	ENST00000425082	ensembl	human	known	69_37n	missense	95	17.95	21	SNP	0.793	C
MUC17	140453	genome.wustl.edu	37	7	100685739	100685739	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr7:100685739G>A	ENST00000306151.4	+	3	11106	c.11042G>A	c.(11041-11043)gGt>gAt	p.G3681D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3681	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					ACTCCTGAAGGTACCACCATG	0.517																																						dbGAP											0													205.0	191.0	196.0					7																	100685739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11042G>A	7.37:g.100685739G>A	ENSP00000302716:p.Gly3681Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.G3681D	ENST00000306151.4	37	c.11042	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	7.780	0.709331	0.15239	.	.	ENSG00000169876	ENST00000306151	T	0.02216	4.39	1.63	-3.26	0.05064	.	.	.	.	.	T	0.02571	0.0078	N	0.14661	0.345	0.09310	N	1	D	0.69078	0.997	D	0.78314	0.991	T	0.29792	-1.0000	9	0.12103	T	0.63	.	1.2327	0.01946	0.1739:0.3949:0.2331:0.1981	.	3681	Q685J3	MUC17_HUMAN	D	3681	ENSP00000302716:G3681D	ENSP00000302716:G3681D	G	+	2	0	MUC17	100472459	0.000000	0.05858	0.000000	0.03702	0.027000	0.11550	-1.636000	0.02016	-0.883000	0.03982	0.186000	0.17326	GGT	MUC17	-	NULL	ENSG00000169876		0.517	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	33	0.00	0	G	NM_001040105		100685739	100685739	+1	no_errors	ENST00000306151	ensembl	human	known	69_37n	missense	95	21.49	26	SNP	0.001	A
PIK3CA	5290	genome.wustl.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	15	Substitution - Missense(13)|Deletion - In frame(2)	endometrium(8)|breast(2)|ovary(2)|large_intestine(1)|urinary_tract(1)|lung(1)											83.0	79.0	80.0					3																	178916944		1819	4069	5888	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331A>G	3.37:g.178916944A>G	ENSP00000263967:p.Lys111Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111E	ENST00000263967.3	37	c.331	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522008	0.85600	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76448	0.86;-1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.87742	0.2586	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	E	111	ENSP00000263967:K111E;ENSP00000417479:K111E	.	K	+	1	0	PIK3CA	180399638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.089000	0.63090	0.454000	0.30748	AAG	PIK3CA	-	NULL	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	37	0.00	0	A			178916944	178916944	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	1.000	G
RHAG	6005	genome.wustl.edu	37	6	49582475	49582475	+	Silent	SNP	G	G	A			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr6:49582475G>A	ENST00000371175.4	-	5	758	c.732C>T	c.(730-732)taC>taT	p.Y244Y	RHAG_ENST00000229810.7_Silent_p.Y244Y	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	244					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|bicarbonate transport (GO:0015701)|carbon dioxide transport (GO:0015670)|cellular ion homeostasis (GO:0006873)|erythrocyte development (GO:0048821)|multicellular organismal iron ion homeostasis (GO:0060586)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ammonium transmembrane transporter activity (GO:0008519)|ankyrin binding (GO:0030506)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CGAGAGAGAAGTACGTGTTTA	0.537																																					Ovarian(176;476 2003 7720 43408 44749)	dbGAP											0													218.0	186.0	197.0					6																	49582475		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4927.1	6p12.3	2014-07-19	2006-02-23		ENSG00000112077	ENSG00000112077		"""CD molecules"", ""Blood group antigens"", ""Solute carriers"""	10006	protein-coding gene	gene with protein product		180297	"""Rhesus blood group-associated glycoprotein"""			9479501	Standard	NM_000324		Approved	RH50A, CD241, SLC42A1	uc003ozk.4	Q02094	OTTHUMG00000016377	ENST00000371175.4:c.732C>T	6.37:g.49582475G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R8T8|O43514|O43515|Q7L8L3|Q9H454	Silent	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.Y244	ENST00000371175.4	37	c.732	CCDS4927.1	6																																																																																			RHAG	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	ENSG00000112077		0.537	RHAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHAG	HGNC	protein_coding	OTTHUMT00000043806.1	54	0.00	0	G			49582475	49582475	-1	no_errors	ENST00000371175	ensembl	human	known	69_37n	silent	108	13.60	17	SNP	1.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228855865	228855865	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr2:228855865G>T	ENST00000392056.3	-	11	4856	c.4810C>A	c.(4810-4812)Ccc>Acc	p.P1604T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.P1575T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1604						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTCCTCTGGGGGCTGGCTGTT	0.577																																						dbGAP											0													43.0	46.0	45.0					2																	228855865		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4810C>A	2.37:g.228855865G>T	ENSP00000375909:p.Pro1604Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.P1604T	ENST00000392056.3	37	c.4810	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	2.988	-0.208738	0.06140	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.08720	3.06;3.06	6.17	1.88	0.25563	A-kinase anchor 110kDa, C-terminal (1);	1.159510	0.05841	N	0.619417	T	0.07052	0.0179	L	0.40543	1.245	0.09310	N	1	B;P	0.42692	0.104;0.787	B;B	0.38327	0.039;0.271	T	0.34153	-0.9840	10	0.19147	T	0.46	.	4.1195	0.10099	0.2793:0.416:0.3048:0.0	.	1604;1575	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	T	1604;1575	ENSP00000375909:P1604T;ENSP00000339886:P1575T	ENSP00000339886:P1575T	P	-	1	0	SPHKAP	228564109	0.416000	0.25424	0.004000	0.12327	0.096000	0.18686	1.752000	0.38349	0.474000	0.27392	-0.165000	0.13383	CCC	SPHKAP	-	pfam_AKAP_110_C	ENSG00000153820		0.577	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	48	0.00	0	G	NM_030623		228855865	228855865	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	80	20.00	20	SNP	0.003	T
TLN1	7094	genome.wustl.edu	37	9	35706350	35706350	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr9:35706350G>A	ENST00000314888.9	-	40	5557	c.5204C>T	c.(5203-5205)gCg>gTg	p.A1735V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.A1719V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1735	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGTACTGCGCCATCTGGGA	0.597																																						dbGAP											0													66.0	70.0	68.0					9																	35706350		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.5204C>T	9.37:g.35706350G>A	ENSP00000316029:p.Ala1735Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.A1735V	ENST00000314888.9	37	c.5204	CCDS35009.1	9	.	.	.	.	.	.	.	.	.	.	G	12.18	1.860050	0.32884	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.14391	2.51;2.51	5.38	4.48	0.54585	.	0.114254	0.64402	N	0.000015	T	0.12561	0.0305	L	0.38692	1.165	0.51767	D	0.999935	B	0.18461	0.028	B	0.10450	0.005	T	0.04281	-1.0963	10	0.38643	T	0.18	-7.9566	13.7351	0.62813	0.0751:0.0:0.9249:0.0	.	1735	Q9Y490	TLN1_HUMAN	V	1735;1719	ENSP00000316029:A1735V;ENSP00000442981:A1719V	ENSP00000316029:A1735V	A	-	2	0	TLN1	35696350	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.776000	0.62354	1.263000	0.44181	0.555000	0.69702	GCG	TLN1	-	superfamily_Vinculin/catenin	ENSG00000137076		0.597	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	19	0.00	0	G	NM_006289		35706350	35706350	-1	no_errors	ENST00000314888	ensembl	human	known	69_37n	missense	48	18.64	11	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577541	7577541	+	Missense_Mutation	SNP	T	T	A	rs397516437		TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chr17:7577541T>A	ENST00000269305.4	-	7	929	c.740A>T	c.(739-741)aAc>aTc	p.N247I	TP53_ENST00000420246.2_Missense_Mutation_p.N247I|TP53_ENST00000445888.2_Missense_Mutation_p.N247I|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.N247I|TP53_ENST00000455263.2_Missense_Mutation_p.N247I|TP53_ENST00000413465.2_Missense_Mutation_p.N247I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	247	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		N -> D (in sporadic cancers; somatic mutation).|N -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (in sporadic cancers; somatic mutation).|NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.N247S(7)|p.?(5)|p.N247T(4)|p.N247I(3)|p.N247_R248delNR(2)|p.M246_P250delMNRRP(2)|p.N247F(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.N247fs*98(1)|p.G245fs*16(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCCTCCGGTTCATGCCGCC	0.577		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	38	Substitution - Missense(15)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(5)|Deletion - Frameshift(3)|Complex - compound substitution(1)	lung(7)|biliary_tract(5)|bone(4)|stomach(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(2)|large_intestine(2)|breast(2)|skin(2)|ovary(2)|urinary_tract(1)|peritoneum(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|pancreas(1)											152.0	113.0	126.0					17																	7577541		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.740A>T	17.37:g.7577541T>A	ENSP00000269305:p.Asn247Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.N247I	ENST00000269305.4	37	c.740	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	23.9	4.472909	0.84640	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99851	-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17;-7.17	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99866	0.9937	M	0.91920	3.255	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;0.996;1.0;0.998;1.0;1.0	D	0.96457	0.9338	10	0.87932	D	0	-34.1355	12.3101	0.54924	0.0:0.0:0.0:1.0	.	247;247;154;247;247;247	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	247;247;247;247;247;247;236;154;115;154	ENSP00000410739:N247I;ENSP00000352610:N247I;ENSP00000269305:N247I;ENSP00000398846:N247I;ENSP00000391127:N247I;ENSP00000391478:N247I;ENSP00000425104:N115I;ENSP00000423862:N154I	ENSP00000269305:N247I	N	-	2	0	TP53	7518266	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.824000	0.86668	2.074000	0.62210	0.379000	0.24179	AAC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.577	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	41	0.00	0	T	NM_000546		7577541	7577541	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	53	18.46	12	SNP	1.000	A
ZBTB33	10009	genome.wustl.edu	37	X	119389142	119389142	+	Missense_Mutation	SNP	A	A	C	rs557274880		TCGA-BH-A1FE-01A-11D-A13L-09	TCGA-BH-A1FE-11B-14D-A13O-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	5e71fc3a-a2f4-4899-9c1f-8fee1ef29e2e	e4e4b299-d680-4777-bd54-f0fdc60aae0b	g.chrX:119389142A>C	ENST00000326624.2	+	2	2100	c.1872A>C	c.(1870-1872)gaA>gaC	p.E624D	ZBTB33_ENST00000557385.1_Missense_Mutation_p.E624D	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	624	Interaction with CTNND1. {ECO:0000250}.|Required for DNA-binding. {ECO:0000250}.				intracellular signal transduction (GO:0035556)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTGGAAAAGAACCTCCAGTAG	0.363																																						dbGAP											0													106.0	100.0	102.0					X																	119389142		2202	4299	6501	-	-	-	SO:0001583	missense	0			BC042753	CCDS14596.1	Xq23	2013-01-09			ENSG00000177485	ENSG00000177485		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	16682	protein-coding gene	gene with protein product		300329					Standard	NM_001184742		Approved	ZNF-kaiso, kaiso, WUGSC:H_DJ525N14.1, KAISO, ZNF348	uc004esn.1	Q86T24	OTTHUMG00000171159	ENST00000326624.2:c.1872A>C	X.37:g.119389142A>C	ENSP00000314153:p.Glu624Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R5U6|O00319|Q7Z361|Q8IVP6|Q8N3P0	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E624D	ENST00000326624.2	37	c.1872	CCDS14596.1	X	.	.	.	.	.	.	.	.	.	.	A	9.240	1.038006	0.19669	.	.	ENSG00000177485;ENSG00000177485;ENSG00000258974	ENST00000326624;ENST00000540105;ENST00000557385	T;T	0.10382	2.88;2.88	5.88	4.72	0.59763	.	0.670270	0.14367	N	0.324022	T	0.06416	0.0165	N	0.17082	0.46	0.35061	D	0.761602	B	0.06786	0.001	B	0.04013	0.001	T	0.27773	-1.0064	10	0.25106	T	0.35	-14.3993	5.6088	0.17394	0.7507:0.0:0.086:0.1633	.	624	Q86T24	KAISO_HUMAN	D	624	ENSP00000314153:E624D;ENSP00000450969:E624D	ENSP00000314153:E624D	E	+	3	2	ZBTB33;AC002086.1	119273170	0.600000	0.26899	1.000000	0.80357	0.994000	0.84299	0.025000	0.13577	0.846000	0.35142	0.486000	0.48141	GAA	ZBTB33	-	NULL	ENSG00000177485		0.363	ZBTB33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB33	HGNC	protein_coding	OTTHUMT00000058085.2	35	0.00	0	A	NM_006777		119389142	119389142	+1	no_errors	ENST00000326624	ensembl	human	known	69_37n	missense	76	26.92	28	SNP	0.998	C
