#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
ANKS6	203286	genome.wustl.edu	37	9	101546367	101546367	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr9:101546367G>A	ENST00000353234.4	-	4	1027	c.980C>T	c.(979-981)gCg>gTg	p.A327V	ANKS6_ENST00000540940.1_Missense_Mutation_p.A132V|ANKS6_ENST00000375019.2_Missense_Mutation_p.A26V|ANKS6_ENST00000375018.1_Missense_Mutation_p.A327V			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	327						cilium (GO:0005929)|cytoplasm (GO:0005737)				endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGTGGCGTCGCCCCGTCCCC	0.597																																						dbGAP											0													62.0	68.0	66.0					9																	101546367		2154	4250	6404	-	-	-	SO:0001583	missense	0			AK094247	CCDS43856.1	9q31.1	2013-09-10	2006-02-17	2006-02-17	ENSG00000165138	ENSG00000165138		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	26724	protein-coding gene	gene with protein product		615370	"""sterile alpha motif domain containing 6"", ""ankyrin repeat domain 14"""	SAMD6, ANKRD14		23793029	Standard	XM_005251793		Approved	FLJ36928, NPHP16	uc004ayu.3	Q68DC2	OTTHUMG00000020347	ENST00000353234.4:c.980C>T	9.37:g.101546367G>A	ENSP00000297837:p.Ala327Val	Somatic		WXS	Illumina GAIIx	Phase_IV	A0SE62|Q5VSL0|Q5VSL2|Q5VSL3|Q5VSL4|Q68DB8|Q6P2R2|Q8N9L6|Q96D62	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,prints_Ankyrin_rpt	p.A327V	ENST00000353234.4	37	c.980	CCDS43856.1	9	.	.	.	.	.	.	.	.	.	.	G	27.6	4.844940	0.91197	.	.	ENSG00000165138	ENST00000375019;ENST00000375018;ENST00000353234;ENST00000540940	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.52	5.52	0.82312	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.61825	0.2378	N	0.04724	-0.175	0.58432	D	0.999996	D	0.89917	1.0	D	0.76575	0.988	T	0.66224	-0.5977	10	0.35671	T	0.21	-24.5968	17.2881	0.87147	0.0:0.0:1.0:0.0	.	327	Q68DC2	ANKS6_HUMAN	V	26;327;327;132	ENSP00000364159:A26V;ENSP00000364158:A327V;ENSP00000297837:A327V;ENSP00000442189:A132V	ENSP00000297837:A327V	A	-	2	0	ANKS6	100586188	1.000000	0.71417	0.976000	0.42696	0.610000	0.37248	9.101000	0.94219	2.746000	0.94184	0.650000	0.86243	GCG	ANKS6	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000165138		0.597	ANKS6-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKS6	HGNC	protein_coding	OTTHUMT00000277053.1	98	0.00	0	G	NM_173551		101546367	101546367	-1	no_errors	ENST00000375018	ensembl	human	known	69_37n	missense	54	20.29	14	SNP	0.999	A
ANXA6	309	genome.wustl.edu	37	5	150483207	150483207	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr5:150483207C>T	ENST00000354546.5	-	25	2113	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H	ANXA6_ENST00000377751.5_Missense_Mutation_p.R286H|ANXA6_ENST00000523714.1_Missense_Mutation_p.R597H|ANXA6_ENST00000521512.1_Missense_Mutation_p.R416H|ANXA6_ENST00000356496.5_Missense_Mutation_p.R623H	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	629					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCTCACTGCGGGATACCAT	0.542																																						dbGAP											0													48.0	50.0	49.0					5																	150483207		2055	4223	6278	-	-	-	SO:0001583	missense	0			J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1886G>A	5.37:g.150483207C>T	ENSP00000346550:p.Arg629His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV	p.R629H	ENST00000354546.5	37	c.1886	CCDS47315.1	5	.	.	.	.	.	.	.	.	.	.	C	27.9	4.869514	0.91587	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153;ENST00000517486	T;T;T;T;T;T	0.12774	2.65;2.65;2.65;2.65;2.65;2.65	4.75	4.75	0.60458	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.41236	0.1150	M	0.81112	2.525	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	T	0.43228	-0.9404	10	0.87932	D	0	.	16.881	0.86063	0.0:1.0:0.0:0.0	.	416;623;629	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	H	629;597;286;623;416;503;122	ENSP00000346550:R629H;ENSP00000430517:R597H;ENSP00000366980:R286H;ENSP00000348889:R623H;ENSP00000430420:R416H;ENSP00000428916:R122H	ENSP00000346550:R629H	R	-	2	0	ANXA6	150463400	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	6.927000	0.75840	2.370000	0.80446	0.561000	0.74099	CGC	ANXA6	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat	ENSG00000197043		0.542	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANXA6	HGNC	protein_coding	OTTHUMT00000377668.2	140	0.00	0	C	NM_001155		150483207	150483207	-1	no_errors	ENST00000354546	ensembl	human	known	69_37n	missense	117	15.83	22	SNP	1.000	T
CFAP58	159686	genome.wustl.edu	37	10	106166473	106166473	+	Silent	SNP	G	G	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr10:106166473G>T	ENST00000369704.3	+	15	2312	c.2178G>T	c.(2176-2178)ctG>ctT	p.L726L		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN		726						extracellular space (GO:0005615)				NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		CATATGAGCTGATACAGAAAA	0.463																																						dbGAP											0													158.0	159.0	159.0					10																	106166473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0																														ENST00000369704.3:c.2178G>T	10.37:g.106166473G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DRA6|Q8NA27	Silent	SNP	superfamily_Homeodomain-like	p.L726	ENST00000369704.3	37	c.2178	CCDS31282.1	10																																																																																			CCDC147	-	superfamily_Homeodomain-like	ENSG00000120051		0.463	CCDC147-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC147	HGNC	protein_coding	OTTHUMT00000050216.1	169	0.59	1	G			106166473	106166473	+1	no_errors	ENST00000369704	ensembl	human	known	69_37n	silent	121	17.01	25	SNP	1.000	T
CDH8	1006	genome.wustl.edu	37	16	61687928	61687928	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr16:61687928C>T	ENST00000577390.1	-	12	2938	c.1984G>A	c.(1984-1986)Gaa>Aaa	p.E662K	CDH8_ENST00000577730.1_Missense_Mutation_p.E662K|CDH8_ENST00000299345.6_Missense_Mutation_p.E662K	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	662					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATGATGTTTTCTCGAACGTCT	0.378																																						dbGAP											0													109.0	103.0	105.0					16																	61687928		2203	4300	6503	-	-	-	SO:0001583	missense	0			L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.1984G>A	16.37:g.61687928C>T	ENSP00000462701:p.Glu662Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWC1|Q14DC6|Q9ULB2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.E662K	ENST00000577390.1	37	c.1984	CCDS10802.1	16	.	.	.	.	.	.	.	.	.	.	C	37	6.056893	0.97241	.	.	ENSG00000150394	ENST00000299345	D	0.81821	-1.54	5.7	5.7	0.88788	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91188	0.7224	M	0.91406	3.205	0.80722	D	1	P	0.47604	0.898	P	0.58620	0.842	D	0.92528	0.6031	10	0.87932	D	0	.	18.8311	0.92139	0.0:1.0:0.0:0.0	.	662	P55286	CADH8_HUMAN	K	662	ENSP00000299345:E662K	ENSP00000299345:E662K	E	-	1	0	CDH8	60245429	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.046000	0.71029	2.679000	0.91253	0.655000	0.94253	GAA	CDH8	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000150394		0.378	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH8	HGNC	protein_coding	OTTHUMT00000268754.3	74	0.00	0	C	NM_001796		61687928	61687928	-1	no_errors	ENST00000577390	ensembl	human	known	69_37n	missense	69	19.54	17	SNP	1.000	T
CDK7	1022	genome.wustl.edu	37	5	68565064	68565064	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr5:68565064G>C	ENST00000256443.3	+	9	761	c.658G>C	c.(658-660)Gat>Cat	p.D220H	CDK7_ENST00000514676.1_Missense_Mutation_p.D183H|CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_Missense_Mutation_p.D127H	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	220	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				7-methylguanosine mRNA capping (GO:0006370)|androgen receptor signaling pathway (GO:0030521)|ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cell proliferation (GO:0008283)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|holo TFIIH complex (GO:0005675)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|DNA-dependent ATPase activity (GO:0008094)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)|transcription coactivator activity (GO:0003713)			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTCAGACCTTGATCAGCTAAC	0.358								Nucleotide excision repair (NER)																														dbGAP											0													105.0	101.0	102.0					5																	68565064		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3999.1	5q12.1	2012-11-05	2007-11-21		ENSG00000134058	ENSG00000134058		"""Cyclin-dependent kinases"", ""General transcription factor IIH complex subunits"""	1778	protein-coding gene	gene with protein product		601955	"""cyclin-dependent kinase 7 (homolog of Xenopus MO15 cdk-activating kinase)"", ""cyclin-dependent kinase 7 (MO15 homolog, Xenopus laevis, cdk-activating kinase)"""			8069918	Standard	NM_001799		Approved	CAK1, CDKN7, MO15, STK1, CAK	uc003jvs.4	P50613	OTTHUMG00000099358	ENST00000256443.3:c.658G>C	5.37:g.68565064G>C	ENSP00000256443:p.Asp220His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9BS60|Q9UE19	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D220H	ENST00000256443.3	37	c.658	CCDS3999.1	5	.	.	.	.	.	.	.	.	.	.	G	21.2	4.115794	0.77323	.	.	ENSG00000134058	ENST00000506563;ENST00000256443;ENST00000514676;ENST00000502604	T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34	4.96	4.96	0.65561	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.82655	0.5084	M	0.79693	2.465	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.991	D	0.85365	0.1110	10	0.87932	D	0	.	17.3508	0.87323	0.0:0.0:1.0:0.0	.	183;220	D6RAD4;P50613	.;CDK7_HUMAN	H	127;220;183;127	ENSP00000425043:D127H;ENSP00000256443:D220H;ENSP00000422737:D183H;ENSP00000422121:D127H	ENSP00000256443:D220H	D	+	1	0	CDK7	68600820	1.000000	0.71417	0.997000	0.53966	0.633000	0.38033	9.311000	0.96282	2.486000	0.83907	0.561000	0.74099	GAT	CDK7	-	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	ENSG00000134058		0.358	CDK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK7	HGNC	protein_coding	OTTHUMT00000216802.3	301	0.00	0	G	NM_001799		68565064	68565064	+1	no_errors	ENST00000256443	ensembl	human	known	69_37n	missense	250	11.03	31	SNP	1.000	C
CNTN1	1272	genome.wustl.edu	37	12	41337803	41337803	+	Missense_Mutation	SNP	C	C	T	rs556601462		TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr12:41337803C>T	ENST00000551295.2	+	14	1631	c.1514C>T	c.(1513-1515)aCg>aTg	p.T505M	CNTN1_ENST00000360099.3_Missense_Mutation_p.T505M|CNTN1_ENST00000348761.2_Missense_Mutation_p.T494M|CNTN1_ENST00000547702.1_Missense_Mutation_p.T505M|CNTN1_ENST00000547849.1_Missense_Mutation_p.T505M|CNTN1_ENST00000347616.1_Missense_Mutation_p.T505M	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	505	Ig-like C2-type 6.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cerebellum development (GO:0021549)|Notch signaling pathway (GO:0007219)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transport (GO:0010765)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)	p.T505M(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ATAGATCCTACGCGAATTATA	0.333																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											84.0	75.0	78.0					12																	41337803		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z21488	CCDS8737.1, CCDS8738.1, CCDS58225.1	12q11-q12	2014-01-30				ENSG00000018236		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"", ""Endogenous ligands"""	2171	protein-coding gene	gene with protein product	"""glycoprotein gP135"""	600016				7959734, 8586965	Standard	NM_001843		Approved	F3, GP135	uc031qgz.1	Q12860		ENST00000551295.2:c.1514C>T	12.37:g.41337803C>T	ENSP00000447006:p.Thr505Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0H9|A8K0Y3|Q12861|Q14030|Q7M4P0|Q8N466	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T505M	ENST00000551295.2	37	c.1514	CCDS8737.1	12	.	.	.	.	.	.	.	.	.	.	C	15.41	2.826087	0.50739	.	.	ENSG00000018236	ENST00000547702;ENST00000551295;ENST00000547849;ENST00000347616;ENST00000360099;ENST00000348761	T;T;T;T;T;T	0.27402	1.67;1.67;1.67;1.67;1.67;1.67	4.72	4.72	0.59763	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.63355	0.2504	M	0.89478	3.035	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.977;0.998;0.999	T	0.70741	-0.4789	10	0.62326	D	0.03	.	18.2484	0.89995	0.0:1.0:0.0:0.0	.	505;494;505	Q12860-3;Q12860-2;Q12860	.;.;CNTN1_HUMAN	M	505;505;505;505;505;494	ENSP00000448004:T505M;ENSP00000447006:T505M;ENSP00000448653:T505M;ENSP00000325660:T505M;ENSP00000353213:T505M;ENSP00000261160:T494M	ENSP00000325660:T505M	T	+	2	0	CNTN1	39624070	1.000000	0.71417	0.982000	0.44146	0.049000	0.14656	7.114000	0.77103	2.625000	0.88918	0.511000	0.50034	ACG	CNTN1	-	pfscan_Ig-like	ENSG00000018236		0.333	CNTN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN1	HGNC	protein_coding	OTTHUMT00000403692.2	217	0.00	0	C	NM_001843		41337803	41337803	+1	no_errors	ENST00000347616	ensembl	human	known	69_37n	missense	157	13.26	24	SNP	1.000	T
CTAGE8	100142659	genome.wustl.edu	37	7	143965405	143965405	+	Silent	SNP	T	T	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr7:143965405T>A	ENST00000487179.1	-	1	976	c.939A>T	c.(937-939)ggA>ggT	p.G313G	OR2A1-AS1_ENST00000463561.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000478806.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA			P0CG41	CTGE8_HUMAN	CTAGE family, member 8	313						integral component of membrane (GO:0016021)											TCTTCAAAGCTCCTTTCAGAG	0.368																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK292236	CCDS64791.1	7q35	2014-08-13			ENSG00000244693	ENSG00000244693			37294	protein-coding gene	gene with protein product							Standard	NM_001278507		Approved			P0CG41	OTTHUMG00000158009	ENST00000487179.1:c.939A>T	7.37:g.143965405T>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	NULL	p.G313	ENST00000487179.1	37	c.939		7																																																																																			CTAGE8	-	NULL	ENSG00000244693		0.368	CTAGE8-001	KNOWN	basic|appris_principal	protein_coding	CTAGE8	HGNC	protein_coding	OTTHUMT00000349996.1	8	0.00	0	T			143965405	143965405	-1	no_errors	ENST00000487179	ensembl	human	known	69_37n	silent	4	63.64	7	SNP	0.056	A
EGF	1950	genome.wustl.edu	37	4	110882135	110882135	+	Silent	SNP	A	A	G			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr4:110882135A>G	ENST00000265171.5	+	7	1624	c.1179A>G	c.(1177-1179)aaA>aaG	p.K393K	EGF_ENST00000503392.1_Silent_p.K393K|EGF_ENST00000509793.1_Silent_p.K351K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	393	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	CTGATGGGAAACGATGTCATC	0.403																																						dbGAP											0													236.0	207.0	217.0					4																	110882135		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1179A>G	4.37:g.110882135A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Silent	SNP	pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_LDLR_classB_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt	p.K393	ENST00000265171.5	37	c.1179	CCDS3689.1	4																																																																																			EGF	-	pirsf_Pro-epidermal_GF,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like	ENSG00000138798		0.403	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EGF	HGNC	protein_coding	OTTHUMT00000255065.1	581	0.00	0	A			110882135	110882135	+1	no_errors	ENST00000265171	ensembl	human	known	69_37n	silent	469	16.64	94	SNP	1.000	G
FGD4	121512	genome.wustl.edu	37	12	32791747	32791747	+	Intron	SNP	G	G	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr12:32791747G>A	ENST00000427716.2	+	16	2467				FGD4_ENST00000266482.3_Silent_p.L439L|FGD4_ENST00000525053.1_Intron|FGD4_ENST00000531134.1_Intron|FGD4_ENST00000546442.1_Intron|FGD4_ENST00000534526.2_Intron	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4						actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					AACCACATCTGTCTGAAGGGA	0.493																																						dbGAP											0													89.0	79.0	83.0					12																	32791747		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.2043+18G>A	12.37:g.32791747G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ULS2|Q8TCP6	Silent	SNP	pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L439	ENST00000427716.2	37	c.1317	CCDS8727.1	12																																																																																			FGD4	-	NULL	ENSG00000139132		0.493	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	227	0.00	0	G	NM_139241		32791747	32791747	+1	no_errors	ENST00000266482	ensembl	human	known	69_37n	silent	168	16.83	34	SNP	0.000	A
FGF3	2248	genome.wustl.edu	37	11	69625120	69625120	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr11:69625120C>T	ENST00000334134.2	-	3	763	c.673G>A	c.(673-675)Gtt>Att	p.V225I		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	225					anatomical structure morphogenesis (GO:0009653)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of cardiac muscle tissue development (GO:0055026)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|post-anal tail morphogenesis (GO:0036342)|semicircular canal morphogenesis (GO:0048752)|signal transduction (GO:0007165)|thymus development (GO:0048538)	extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)	growth factor activity (GO:0008083)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			GAAGCCTGAACGTGAGAGGGC	0.692																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS8195.1	11q13	2010-06-25	2010-06-25		ENSG00000186895	ENSG00000186895			3681	protein-coding gene	gene with protein product	"""INT-2 proto-oncogene protein"", ""oncogene INT2"", ""V-INT2 murine mammary tumor virus integration site oncogene homolog"", ""murine mammary tumor virus integration site 2, mouse"""	164950	"""fibroblast growth factor 3 (murine mammary tumor virus integration site (v-int-2) oncogene homolog)"""	INT2			Standard	NM_005247		Approved	HBGF-3	uc001oph.3	P11487	OTTHUMG00000167888	ENST00000334134.2:c.673G>A	11.37:g.69625120C>T	ENSP00000334122:p.Val225Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0VG69	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.V225I	ENST00000334134.2	37	c.673	CCDS8195.1	11	.	.	.	.	.	.	.	.	.	.	c	7.107	0.575239	0.13623	.	.	ENSG00000186895	ENST00000334134	T	0.79352	-1.26	2.51	-3.0	0.05480	.	14.230500	0.00633	N	0.000495	T	0.58119	0.2100	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.38929	-0.9638	9	.	.	.	.	3.6843	0.08323	0.0:0.408:0.1902:0.4018	.	225	P11487	FGF3_HUMAN	I	225	ENSP00000334122:V225I	.	V	-	1	0	FGF3	69334301	.	.	0.000000	0.03702	0.001000	0.01503	.	.	-0.905000	0.03871	-0.355000	0.07637	GTT	FGF3	-	NULL	ENSG00000186895		0.692	FGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF3	HGNC	protein_coding	OTTHUMT00000396835.1	9	0.00	0	C	NM_005247		69625120	69625120	-1	no_errors	ENST00000334134	ensembl	human	known	69_37n	missense	3	90.32	28	SNP	0.000	T
FAM86B3P	286042	genome.wustl.edu	37	8	8088411	8088411	+	IGR	SNP	A	A	G	rs2980481	byFrequency	TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr8:8088411A>G								FAM85B (4275 upstream) : ALG1L13P (6784 downstream)														p.Q48R(3)									GAGCTGCTGCAGGATATTTTG	0.488																																						dbGAP											3	Substitution - Missense(3)	kidney(2)|urinary_tract(1)																																								-	-	-	SO:0001628	intergenic_variant	0																															8.37:g.8088411A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL		37	NULL		8																																																																																			RP11-556O5.3	-	-	ENSG00000173295	0	0.488					FLJ10661	Clone_based_vega_gene			49	0.00	0	A			8088411	8088411	+1	no_errors	ENST00000522601	ensembl	human	known	69_37n	rna	24	14.29	4	SNP	0.976	G
GALNT16	57452	genome.wustl.edu	37	14	69813893	69813893	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr14:69813893G>A	ENST00000337827.4	+	13	1735	c.1408G>A	c.(1408-1410)Gcc>Acc	p.A470T	GALNT16_ENST00000553669.1_Missense_Mutation_p.A470T|GALNT16_ENST00000448469.3_Missense_Mutation_p.A470T	NM_001168368.1|NM_020692.2	NP_001161840.1|NP_065743.2	Q8N428	GLT16_HUMAN	polypeptide N-acetylgalactosaminyltransferase 16	470	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										CCCGCAGCCCGCCCAGGTAAG	0.597											OREG0022763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													32.0	30.0	30.0					14																	69813893		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032956	CCDS32107.1	14q24.1	2014-03-13	2014-03-13	2013-01-25	ENSG00000100626	ENSG00000100626	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	23233	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 16"""	615132	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 16"""	GALNTL1		10574461, 22186971	Standard	NM_020692		Approved	KIAA1130, GalNAc-T16	uc010aqu.2	Q8N428	OTTHUMG00000171231	ENST00000337827.4:c.1408G>A	14.37:g.69813893G>A	ENSP00000336729:p.Ala470Thr	Somatic	1117	WXS	Illumina GAIIx	Phase_IV	Q4KMG3|Q58A55|Q9ULT9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.A470T	ENST00000337827.4	37	c.1408	CCDS32107.1	14	.	.	.	.	.	.	.	.	.	.	G	12.82	2.052420	0.36181	.	.	ENSG00000100626	ENST00000337827;ENST00000536652;ENST00000448469;ENST00000553669	T;T;T	0.30448	1.53;1.53;1.53	5.97	-1.13	0.09775	Ricin B-related lectin (1);Ricin B lectin (3);	0.612948	0.18524	N	0.138693	T	0.08313	0.0207	N	0.02142	-0.665	0.23909	N	0.996496	B;B	0.11235	0.001;0.004	B;B	0.15052	0.001;0.012	T	0.25606	-1.0127	10	0.21014	T	0.42	.	2.8631	0.05593	0.1073:0.3235:0.3461:0.223	.	470;470	Q8N428;Q58A55	GLTL1_HUMAN;.	T	470;96;470;470	ENSP00000336729:A470T;ENSP00000402970:A470T;ENSP00000451200:A470T	ENSP00000336729:A470T	A	+	1	0	GALNTL1	68883646	0.021000	0.18746	0.057000	0.19452	0.938000	0.57974	0.180000	0.16860	-0.082000	0.12640	0.655000	0.94253	GCC	GALNTL1	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000100626		0.597	GALNT16-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNTL1	HGNC	protein_coding	OTTHUMT00000412434.1	51	0.00	0	G	NM_001168368		69813893	69813893	+1	no_errors	ENST00000337827	ensembl	human	known	69_37n	missense	40	21.57	11	SNP	0.007	A
GPSM2	29899	genome.wustl.edu	37	1	109440722	109440722	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr1:109440722G>T	ENST00000406462.2	+	6	1329	c.556G>T	c.(556-558)Gag>Tag	p.E186*	GPSM2_ENST00000264126.3_Splice_Site_p.E186*|AKNAD1_ENST00000357393.4_Intron			P81274	GPSM2_HUMAN	G-protein signaling modulator 2	186					establishment of mitotic spindle orientation (GO:0000132)|G-protein coupled receptor signaling pathway (GO:0007186)|lung epithelial cell differentiation (GO:0060487)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase regulator activity (GO:0030695)|identical protein binding (GO:0042802)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		GGATTTTTATGAGTGAGTAGG	0.463																																						dbGAP											0													83.0	86.0	85.0					1																	109440722		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AY136740	CCDS792.2	1p13.3	2013-10-11	2010-06-24		ENSG00000121957	ENSG00000121957		"""Tetratricopeptide (TTC) repeat domain containing"""	29501	protein-coding gene	gene with protein product		609245	"""G-protein signalling modulator 2 (AGS3-like, C. elegans)"", ""deafness, autosomal recessive 82"""	DFNB82		11832491, 8973305, 19888295, 20602914, 21348867	Standard	NM_013296		Approved	LGN, Pins	uc010ovc.2	P81274	OTTHUMG00000011730	ENST00000406462.2:c.557+1G>T	1.37:g.109440722G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T1N8|Q6IBL7|Q8N0Z5	Nonsense_Mutation	SNP	pfam_GoLoco_motif,pfam_TPR-1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E186*	ENST00000406462.2	37	c.556	CCDS792.2	1	.	.	.	.	.	.	.	.	.	.	G	41	9.040130	0.99046	.	.	ENSG00000121957	ENST00000406462;ENST00000435987;ENST00000264126	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-0.0386	19.717	0.96124	0.0:0.0:1.0:0.0	.	.	.	.	X	186	.	ENSP00000264126:E186X	E	+	1	0	GPSM2	109242245	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	9.827000	0.99397	2.661000	0.90470	0.655000	0.94253	GAG	GPSM2	-	smart_TPR_repeat	ENSG00000121957		0.463	GPSM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPSM2	HGNC	protein_coding	OTTHUMT00000032400.3	167	0.00	0	G	NM_013296	Nonsense_Mutation	109440722	109440722	+1	no_errors	ENST00000264126	ensembl	human	known	69_37n	nonsense	142	12.88	21	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	186024579	186024579	+	Missense_Mutation	SNP	G	G	C	rs137853916	byFrequency	TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr1:186024579G>C	ENST00000271588.4	+	45	7146	c.6917G>C	c.(6916-6918)cGa>cCa	p.R2306P	HMCN1_ENST00000367492.2_Missense_Mutation_p.R2306P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2306	Ig-like C2-type 21.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGACCCGAGGGAAGAGT	0.473																																						dbGAP											0													73.0	72.0	73.0					1																	186024579		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.6917G>C	1.37:g.186024579G>C	ENSP00000271588:p.Arg2306Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R2306P	ENST00000271588.4	37	c.6917	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	G	14.74	2.626367	0.46840	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.71934	-0.61;-0.61	5.4	3.52	0.40303	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.244993	0.41712	D	0.000824	T	0.57888	0.2084	N	0.05124	-0.11	0.34108	D	0.662614	D	0.65815	0.995	P	0.58721	0.844	T	0.64989	-0.6277	10	0.38643	T	0.18	.	4.9252	0.13889	0.1993:0.0:0.6253:0.1754	.	2306	Q96RW7	HMCN1_HUMAN	P	2306	ENSP00000271588:R2306P;ENSP00000356462:R2306P	ENSP00000271588:R2306P	R	+	2	0	HMCN1	184291202	0.988000	0.35896	0.308000	0.25141	0.327000	0.28475	3.068000	0.50018	1.275000	0.44379	-0.127000	0.14921	CGA	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000143341		0.473	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	108	0.00	0	G	NM_031935		186024579	186024579	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	85	11.46	11	SNP	0.999	C
HMMR	3161	genome.wustl.edu	37	5	162910044	162910044	+	Silent	SNP	G	G	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr5:162910044G>A	ENST00000358715.3	+	14	1584	c.1548G>A	c.(1546-1548)caG>caA	p.Q516Q	HMMR_ENST00000432118.2_Silent_p.Q430Q|RP11-80G7.1_ENST00000514724.2_RNA|HMMR_ENST00000353866.3_Silent_p.Q501Q|RP11-80G7.1_ENST00000521666.1_RNA|HMMR_ENST00000393915.4_Silent_p.Q517Q			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	516					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	TAGATCTGCAGACCAAGTCAG	0.338																																						dbGAP											0													68.0	77.0	74.0					5																	162910044		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.1548G>A	5.37:g.162910044G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Silent	SNP	NULL	p.Q517	ENST00000358715.3	37	c.1551	CCDS4362.1	5																																																																																			HMMR	-	NULL	ENSG00000072571		0.338	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	HGNC	protein_coding	OTTHUMT00000252752.1	41	0.00	0	G	NM_012484		162910044	162910044	+1	no_errors	ENST00000393915	ensembl	human	known	69_37n	silent	38	24.00	12	SNP	0.988	A
HNRNPUL1	11100	genome.wustl.edu	37	19	41811663	41811663	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr19:41811663C>A	ENST00000392006.3	+	14	2518	c.2345C>A	c.(2344-2346)cCt>cAt	p.P782H	HNRNPUL1_ENST00000602130.1_Intron|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.P693H|HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.P682H|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.P678H|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.P692H|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.P682H	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	782	Necessary for interaction with TP53.|Pro-rich.|Tyr-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						CCACCACCACCTGCCTACAAC	0.622																																						dbGAP											0													96.0	93.0	94.0					19																	41811663		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ007509	CCDS12576.1, CCDS12577.1	19q13.2	2013-06-12		2008-04-18	ENSG00000105323	ENSG00000105323			17011	protein-coding gene	gene with protein product	"""E1B 55kDa associated protein 5"""	605800		HNRPUL1		9733834, 12489984	Standard	XM_005258459		Approved	E1B-AP5, E1BAP5, FLJ12944	uc002oqb.4	Q9BUJ2	OTTHUMG00000182740	ENST00000392006.3:c.2345C>A	19.37:g.41811663C>A	ENSP00000375863:p.Pro782His	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KMW7|O76022|Q6ZSZ0|Q7L8P4|Q8N6Z4|Q96G37|Q9HAL3|Q9UG75	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.P782H	ENST00000392006.3	37	c.2345	CCDS12576.1	19	.	.	.	.	.	.	.	.	.	.	C	15.16	2.750169	0.49257	.	.	ENSG00000105323	ENST00000352456;ENST00000392006;ENST00000378215;ENST00000263367	D;T;D	0.92911	-3.13;1.35;-3.13	4.67	3.62	0.41486	.	0.064498	0.64402	D	0.000009	D	0.91496	0.7315	N	0.19112	0.55	0.31390	N	0.677907	D;D;D;D;D;D	0.89917	0.992;1.0;0.999;0.999;0.999;0.995	B;D;P;D;P;P	0.73380	0.407;0.98;0.907;0.937;0.867;0.612	D	0.90303	0.4331	10	0.49607	T	0.09	-5.9591	12.1698	0.54152	0.0:0.8272:0.1728:0.0	.	682;316;782;678;782;682	A8K3W4;Q9BUJ2-5;A8K5K0;Q9BUJ2-3;Q9BUJ2;Q9BUJ2-4	.;.;.;.;HNRL1_HUMAN;.	H	682;782;678;693	ENSP00000375863:P782H;ENSP00000367460:P678H;ENSP00000263367:P693H	ENSP00000263367:P693H	P	+	2	0	HNRNPUL1	46503503	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.829000	0.55760	1.195000	0.43115	0.485000	0.47835	CCT	HNRNPUL1	-	NULL	ENSG00000105323		0.622	HNRNPUL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPUL1	HGNC	protein_coding	OTTHUMT00000463406.1	172	0.00	0	C	NM_144732, NM_007040		41811663	41811663	+1	no_errors	ENST00000392006	ensembl	human	known	69_37n	missense	132	19.02	31	SNP	1.000	A
INPP5B	3633	genome.wustl.edu	37	1	38354001	38354001	+	Silent	SNP	T	T	C			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr1:38354001T>C	ENST00000373026.1	-	9	1053	c.1053A>G	c.(1051-1053)acA>acG	p.T351T	INPP5B_ENST00000373024.3_Silent_p.T271T|INPP5B_ENST00000373023.2_Silent_p.T351T|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Silent_p.T107T|INPP5B_ENST00000458109.2_Silent_p.T34T			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	351	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTACATTGTATGTTCCCGCAA	0.448																																						dbGAP											0													79.0	82.0	81.0					1																	38354001		1892	4110	6002	-	-	-	SO:0001819	synonymous_variant	0			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1053A>G	1.37:g.38354001T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.T351	ENST00000373026.1	37	c.1053		1																																																																																			INPP5B	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc	ENSG00000204084		0.448	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	119	0.00	0	T	NM_005540		38354001	38354001	-1	no_errors	ENST00000373023	ensembl	human	known	69_37n	silent	93	15.45	17	SNP	0.685	C
KGFLP2	654466	genome.wustl.edu	37	9	41962384	41962384	+	lincRNA	SNP	T	T	C	rs200074620		TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr9:41962384T>C	ENST00000454645.1	-	0	1120					NR_003670.1																						TAATGCAGTGTCTTAAAACAA	0.294																																						dbGAP											0																																										-	-	-			0																															9.37:g.41962384T>C		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000454645.1	37	NULL		9																																																																																			RP11-204M4.2	-	-	ENSG00000204837		0.294	RP11-204M4.2-001	KNOWN	basic	lincRNA	KGFLP2	Clone_based_vega_gene	lincRNA	OTTHUMT00000143738.1	11	0.00	0	T			41962384	41962384	-1	no_errors	ENST00000454645	ensembl	human	known	69_37n	rna	2	60.00	3	SNP	1.000	C
LDLR	3949	genome.wustl.edu	37	19	11221353	11221353	+	Silent	SNP	C	C	T	rs567080879		TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr19:11221353C>T	ENST00000558518.1	+	7	1153	c.966C>T	c.(964-966)aaC>aaT	p.N322N	LDLR_ENST00000455727.2_Silent_p.N154N|LDLR_ENST00000535915.1_Silent_p.N281N|LDLR_ENST00000557933.1_Silent_p.N322N|LDLR_ENST00000545707.1_Silent_p.N195N|LDLR_ENST00000558013.1_Silent_p.N322N	NM_000527.4|NM_001195798.1	NP_000518.1|NP_001182727.1	P01130	LDLR_HUMAN	low density lipoprotein receptor	322	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol homeostasis (GO:0042632)|cholesterol import (GO:0070508)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|endocytosis (GO:0006897)|intestinal cholesterol absorption (GO:0030299)|lipid metabolic process (GO:0006629)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|low-density lipoprotein particle clearance (GO:0034383)|phospholipid transport (GO:0015914)|phototransduction, visible light (GO:0007603)|positive regulation of triglyceride biosynthetic process (GO:0010867)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol homeostasis (GO:2000188)|regulation of phosphatidylcholine catabolic process (GO:0010899)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cell surface (GO:0009986)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|low-density lipoprotein particle (GO:0034362)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|low-density lipoprotein particle binding (GO:0030169)|low-density lipoprotein receptor activity (GO:0005041)|very-low-density lipoprotein particle receptor activity (GO:0030229)	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Porfimer(DB00707)	TGGACAACAACGGCGGCTGTT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17595	0.0		0.0	False		,,,				2504	0.001				GBM(18;201 575 7820 21545)	dbGAP											1	Unknown(1)	lung(1)											112.0	84.0	94.0					19																	11221353		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY114155	CCDS12254.1, CCDS56083.1, CCDS56084.1, CCDS56085.1, CCDS58651.1	19p13.2	2014-09-17	2008-08-01		ENSG00000130164	ENSG00000130164		"""Low density lipoprotein receptors"""	6547	protein-coding gene	gene with protein product	"""familial hypercholesterolemia"""	606945					Standard	NM_000527		Approved	LDLCQ2	uc002mqk.4	P01130		ENST00000558518.1:c.966C>T	19.37:g.11221353C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DII3|B4DJZ8|B4DR00|B4DTQ3|C0JYY8|H0YLU8|H0YNT7|Q53ZD9|Q59FQ1|Q9UDH7	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.T407M	ENST00000558518.1	37	c.1220	CCDS12254.1	19																																																																																			LDLR	-	superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom	ENSG00000130164		0.617	LDLR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LDLR	HGNC	protein_coding	OTTHUMT00000415973.2	68	0.00	0	C			11221353	11221353	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000252444	ensembl	human	putative	69_37n	missense	39	15.22	7	SNP	0.266	T
MYO19	80179	genome.wustl.edu	37	17	34863744	34863744	+	Silent	SNP	T	T	C			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr17:34863744T>C	ENST00000431794.3	-	15	1773	c.1251A>G	c.(1249-1251)ggA>ggG	p.G417G	MYO19_ENST00000268852.9_Silent_p.G417G	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	417	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATGATTCAAATCCATACACAT	0.547																																						dbGAP											0													73.0	74.0	74.0					17																	34863744		2131	4257	6388	-	-	-	SO:0001819	synonymous_variant	0			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1251A>G	17.37:g.34863744T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q59GS4|Q9H5X2	Silent	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS	p.G417	ENST00000431794.3	37	c.1251	CCDS54112.1	17																																																																																			MYO19	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	ENSG00000141140		0.547	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	128	0.00	0	T	NM_025109		34863744	34863744	-1	no_errors	ENST00000431794	ensembl	human	known	69_37n	silent	109	23.24	33	SNP	0.999	C
OR8K1	390157	genome.wustl.edu	37	11	56114328	56114328	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr11:56114328C>T	ENST00000279783.2	+	1	908	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	272						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					CAAGTCCAGTCATACTTTGGC	0.408										HNSCC(65;0.19)																												dbGAP											0													121.0	110.0	113.0					11																	56114328		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.814C>T	11.37:g.56114328C>T	ENSP00000279783:p.His272Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.H272Y	ENST00000279783.2	37	c.814	CCDS31528.1	11	.	.	.	.	.	.	.	.	.	.	C	5.817	0.334959	0.11013	.	.	ENSG00000150261	ENST00000279783	T	0.00115	8.71	5.09	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000112	T	0.00109	0.0003	L	0.39633	1.23	0.09310	N	1	B	0.28880	0.226	B	0.30105	0.111	T	0.32561	-0.9902	10	0.32370	T	0.25	-14.0028	2.603	0.04871	0.1598:0.533:0.1543:0.1529	.	272	Q8NGG5	OR8K1_HUMAN	Y	272	ENSP00000279783:H272Y	ENSP00000279783:H272Y	H	+	1	0	OR8K1	55870904	0.000000	0.05858	0.070000	0.20053	0.263000	0.26337	0.917000	0.28665	2.344000	0.79699	0.549000	0.68633	CAT	OR8K1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000150261		0.408	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K1	HGNC	protein_coding	OTTHUMT00000391605.1	183	0.00	0	C	NM_001002907		56114328	56114328	+1	no_errors	ENST00000279783	ensembl	human	known	69_37n	missense	180	36.93	106	SNP	0.000	T
P2RY13	53829	genome.wustl.edu	37	3	151047297	151047297	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr3:151047297C>G	ENST00000325602.5	-	1	39	c.20G>C	c.(19-21)aGa>aCa	p.R7T	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	7					negative regulation of adenylate cyclase activity (GO:0007194)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			TTCTCTCTGTCTTCTTATGGC	0.353																																						dbGAP											0													111.0	108.0	109.0					3																	151047297		692	1591	2283	-	-	-	SO:0001583	missense	0			AF295368	CCDS3158.2	3q24	2012-08-08	2004-07-12	2004-07-14	ENSG00000181631	ENSG00000181631		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	4537	protein-coding gene	gene with protein product		606380	"""G protein-coupled receptor 86"""	GPR94, GPR86		11273702, 11574155	Standard	NM_176894		Approved	FKSG77, P2Y13	uc003eyv.2	Q9BPV8	OTTHUMG00000155745	ENST00000325602.5:c.20G>C	3.37:g.151047297C>G	ENSP00000320376:p.Arg7Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R827|Q05C50|Q6DKN4|Q8IUT5|Q8TDU7|Q9BY61	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_P2Y13_purnocptor,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt	p.R7T	ENST00000325602.5	37	c.20	CCDS3158.2	3	.	.	.	.	.	.	.	.	.	.	C	4.446	0.082595	0.08533	.	.	ENSG00000181631	ENST00000325602	T	0.38722	1.12	4.32	2.51	0.30379	.	.	.	.	.	T	0.18923	0.0454	N	0.08118	0	0.09310	N	0.999999	B	0.21520	0.057	B	0.13407	0.009	T	0.27331	-1.0077	9	0.12766	T	0.61	.	6.4951	0.22138	0.0:0.7159:0.1822:0.1019	.	7	Q9BPV8	P2Y13_HUMAN	T	7	ENSP00000320376:R7T	ENSP00000320376:R7T	R	-	2	0	P2RY13	152529987	0.012000	0.17670	0.093000	0.20910	0.022000	0.10575	1.512000	0.35812	0.386000	0.24997	-0.222000	0.12452	AGA	P2RY13	-	NULL	ENSG00000181631		0.353	P2RY13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY13	HGNC	protein_coding	OTTHUMT00000341468.1	385	0.00	0	C	NM_023914		151047297	151047297	-1	no_errors	ENST00000325602	ensembl	human	known	69_37n	missense	275	15.64	51	SNP	0.285	G
PDCD11	22984	genome.wustl.edu	37	10	105181309	105181309	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr10:105181309C>G	ENST00000369797.3	+	17	2576	c.2482C>G	c.(2482-2484)Ctt>Gtt	p.L828V		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	828					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CGTGCGCAGCCTTATGAGCAA	0.607																																						dbGAP											0													21.0	17.0	18.0					10																	105181309		2196	4298	6494	-	-	-	SO:0001583	missense	0			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.2482C>G	10.37:g.105181309C>G	ENSP00000358812:p.Leu828Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1	p.L828V	ENST00000369797.3	37	c.2482	CCDS31276.1	10	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119023	0.56505	.	.	ENSG00000148843	ENST00000369797;ENST00000543503	T	0.10192	2.9	6.04	6.04	0.98038	.	0.100596	0.64402	D	0.000002	T	0.09113	0.0225	L	0.40543	1.245	0.44117	D	0.996895	P	0.49961	0.93	B	0.40982	0.345	T	0.24977	-1.0145	10	0.12766	T	0.61	-18.4674	11.1868	0.48662	0.129:0.8037:0.0:0.0673	.	828	Q14690	RRP5_HUMAN	V	828	ENSP00000358812:L828V	ENSP00000358812:L828V	L	+	1	0	PDCD11	105171299	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	0.873000	0.28052	2.873000	0.98535	0.561000	0.74099	CTT	PDCD11	-	superfamily_NA-bd_OB-fold-like	ENSG00000148843		0.607	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD11	HGNC	protein_coding	OTTHUMT00000050151.1	43	0.00	0	C			105181309	105181309	+1	no_errors	ENST00000369797	ensembl	human	known	69_37n	missense	32	27.27	12	SNP	1.000	G
PDCL2	132954	genome.wustl.edu	37	4	56428697	56428697	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr4:56428697C>T	ENST00000295645.4	-	5	547	c.445G>A	c.(445-447)Gtg>Atg	p.V149M		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	149	Thioredoxin fold. {ECO:0000250}.									endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			CAGCTATTCACGATGGCTTTA	0.328																																						dbGAP											0													68.0	63.0	65.0					4																	56428697		1817	4078	5895	-	-	-	SO:0001583	missense	0			BC034431	CCDS47059.1	4q12	2008-02-05			ENSG00000163440	ENSG00000163440			29524	protein-coding gene	gene with protein product		611676				12424248	Standard	NM_152401		Approved	GCPHLP	uc003hbb.3	Q8N4E4	OTTHUMG00000160674	ENST00000295645.4:c.445G>A	4.37:g.56428697C>T	ENSP00000295645:p.Val149Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MWA2|B9ZVQ9	Missense_Mutation	SNP	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	p.V149M	ENST00000295645.4	37	c.445	CCDS47059.1	4	.	.	.	.	.	.	.	.	.	.	C	20.9	4.066557	0.76187	.	.	ENSG00000163440	ENST00000295645	T	0.16743	2.32	5.85	5.85	0.93711	Phosducin, thioredoxin-like domain (1);Thioredoxin-like fold (2);	0.098546	0.44483	D	0.000453	T	0.30293	0.0760	M	0.67397	2.05	0.40821	D	0.983501	D	0.63046	0.992	P	0.50570	0.644	T	0.02852	-1.1102	10	0.87932	D	0	-38.0339	14.933	0.70933	0.143:0.857:0.0:0.0	.	149	Q8N4E4	PDCL2_HUMAN	M	149	ENSP00000295645:V149M	ENSP00000295645:V149M	V	-	1	0	PDCL2	56123454	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.389000	0.59639	2.769000	0.95229	0.491000	0.48974	GTG	PDCL2	-	pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold	ENSG00000163440		0.328	PDCL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCL2	HGNC	protein_coding	OTTHUMT00000361659.1	189	0.00	0	C	NM_152401		56428697	56428697	-1	no_errors	ENST00000295645	ensembl	human	known	69_37n	missense	124	15.65	23	SNP	1.000	T
PHTF2	57157	genome.wustl.edu	37	7	77569914	77569914	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr7:77569914C>T	ENST00000248550.7	+	14	1886	c.1810C>T	c.(1810-1812)Cat>Tat	p.H604Y	PHTF2_ENST00000416283.2_Missense_Mutation_p.H570Y|PHTF2_ENST00000275575.7_Missense_Mutation_p.H566Y|PHTF2_ENST00000422959.2_Missense_Mutation_p.H570Y|PHTF2_ENST00000307305.8_Missense_Mutation_p.H566Y			Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	604					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TGAGGTTCCTCATTTCCGGTT	0.363																																						dbGAP											0													108.0	104.0	105.0					7																	77569914		1820	4074	5894	-	-	-	SO:0001583	missense	0			AL136883	CCDS47621.1, CCDS47622.1, CCDS47623.1, CCDS47624.1	7q11.23-q21	2008-02-01			ENSG00000006576	ENSG00000006576			13411	protein-coding gene	gene with protein product						10729229	Standard	NM_020432		Approved	DKFZp434D166	uc003ugq.4	Q8N3S3	OTTHUMG00000155557	ENST00000248550.7:c.1810C>T	7.37:g.77569914C>T	ENSP00000248550:p.His604Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JP04|A0JP05|A4D1C2|E9PEE3|G5E9H7|Q6NW35|Q8TBW4|Q9H099	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.H604Y	ENST00000248550.7	37	c.1810		7	.	.	.	.	.	.	.	.	.	.	C	27.4	4.823959	0.90873	.	.	ENSG00000006576	ENST00000427986;ENST00000422959;ENST00000307305;ENST00000275575;ENST00000416283;ENST00000248550	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.79405	0.4440	M	0.68317	2.08	0.80722	D	1	D;D;D;D	0.89917	0.998;0.996;0.999;1.0	D;D;D;D	0.87578	0.994;0.986;0.993;0.998	T	0.80331	-0.1427	9	0.87932	D	0	-14.8347	19.8155	0.96566	0.0:1.0:0.0:0.0	.	566;570;604;566	Q8N3S3-4;Q8N3S3-2;Q8N3S3;Q8N3S3-3	.;.;PHTF2_HUMAN;.	Y	570;570;566;566;570;604	.	ENSP00000248550:H604Y	H	+	1	0	PHTF2	77407850	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.747000	0.85070	2.691000	0.91804	0.563000	0.77884	CAT	PHTF2	-	NULL	ENSG00000006576		0.363	PHTF2-006	KNOWN	basic	protein_coding	PHTF2	HGNC	protein_coding	OTTHUMT00000340638.2	373	0.00	0	C	NM_020432		77569914	77569914	+1	no_errors	ENST00000248550	ensembl	human	known	69_37n	missense	259	13.09	39	SNP	1.000	T
PIK3IP1	113791	genome.wustl.edu	37	22	31685334	31685334	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr22:31685334C>T	ENST00000215912.5	-	5	737	c.554G>A	c.(553-555)gGa>gAa	p.G185E	PIK3IP1_ENST00000441972.1_Intron|PIK3IP1_ENST00000402249.3_Missense_Mutation_p.G185E|PIK3IP1_ENST00000487265.2_Missense_Mutation_p.G106E	NM_052880.4	NP_443112.2	Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	185					negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase catalytic subunit binding (GO:0036313)			large_intestine(2)|lung(1)|ovary(1)	4						GATGCCAGCTCCGATGGCAAT	0.507																																						dbGAP											0													75.0	61.0	66.0					22																	31685334		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC011049	CCDS13893.1, CCDS46690.1	22q12.2	2007-04-13			ENSG00000100100	ENSG00000100100			24942	protein-coding gene	gene with protein product						12477932	Standard	NM_052880		Approved	HGFL, MGC17330	uc003akm.3	Q96FE7	OTTHUMG00000151256	ENST00000215912.5:c.554G>A	22.37:g.31685334C>T	ENSP00000215912:p.Gly185Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DRR9|D1MEI0|O00318|Q49A94|Q86YW2|Q8NCJ9	Missense_Mutation	SNP	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	p.G185E	ENST00000215912.5	37	c.554	CCDS13893.1	22	.	.	.	.	.	.	.	.	.	.	C	32	5.158466	0.94686	.	.	ENSG00000100100	ENST00000215912;ENST00000416925;ENST00000487265;ENST00000402249	T;T;T	0.44083	0.93;0.93;0.93	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.64951	0.2645	M	0.68593	2.085	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.67345	-0.5694	10	0.87932	D	0	-9.3242	18.3063	0.90182	0.0:1.0:0.0:0.0	.	185;106;185	Q96FE7-2;D1MEI0;Q96FE7	.;.;P3IP1_HUMAN	E	185;163;106;185	ENSP00000215912:G185E;ENSP00000441361:G106E;ENSP00000385204:G185E	ENSP00000215912:G185E	G	-	2	0	PIK3IP1	30015334	1.000000	0.71417	0.994000	0.49952	0.991000	0.79684	7.104000	0.77024	2.566000	0.86566	0.655000	0.94253	GGA	PIK3IP1	-	NULL	ENSG00000100100		0.507	PIK3IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3IP1	HGNC	protein_coding	OTTHUMT00000321939.1	66	0.00	0	C	NM_052880		31685334	31685334	-1	no_errors	ENST00000215912	ensembl	human	known	69_37n	missense	34	20.93	9	SNP	1.000	T
PRMT8	56341	genome.wustl.edu	37	12	3702343	3702343	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr12:3702343C>T	ENST00000382622.3	+	10	1570	c.1180C>T	c.(1180-1182)Cgt>Tgt	p.R394C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.R385C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	394	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.				histone arginine methylation (GO:0034969)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|identical protein binding (GO:0042802)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTACAAAATGCGTTAGCACAC	0.488																																						dbGAP											0													80.0	69.0	73.0					12																	3702343		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF263539	CCDS8521.2, CCDS58200.1	12p13.3	2006-03-03	2006-02-16	2006-02-16	ENSG00000111218	ENSG00000111218		"""Protein arginine methyltransferases"""	5188	protein-coding gene	gene with protein product		610086	"""HMT1 hnRNP methyltransferase-like 3 (S. cerevisiae)"", ""HMT1 hnRNP methyltransferase-like 4 (S. cerevisiae)"""	HRMT1L3, HRMT1L4		16051612	Standard	NM_019854		Approved		uc001qmf.4	Q9NR22	OTTHUMG00000128493	ENST00000382622.3:c.1180C>T	12.37:g.3702343C>T	ENSP00000372067:p.Arg394Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDP0|Q8TBJ8	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2	p.R394C	ENST00000382622.3	37	c.1180	CCDS8521.2	12	.	.	.	.	.	.	.	.	.	.	C	21.9	4.217330	0.79352	.	.	ENSG00000111218	ENST00000452611;ENST00000382622	T;T	0.37235	1.36;1.21	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.57695	0.2071	L	0.59967	1.855	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.59757	-0.7394	10	0.87932	D	0	.	16.5992	0.84807	0.0:1.0:0.0:0.0	.	385;394	Q9NR22-2;Q9NR22	.;ANM8_HUMAN	C	385;394	ENSP00000414507:R385C;ENSP00000372067:R394C	ENSP00000372067:R394C	R	+	1	0	PRMT8	3572604	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	5.980000	0.70516	2.526000	0.85167	0.313000	0.20887	CGT	PRMT8	-	NULL	ENSG00000111218		0.488	PRMT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT8	HGNC	protein_coding	OTTHUMT00000250297.2	145	0.00	0	C	NM_019854		3702343	3702343	+1	no_errors	ENST00000382622	ensembl	human	known	69_37n	missense	129	11.49	17	SNP	1.000	T
SLC6A3	6531	genome.wustl.edu	37	5	1414821	1414821	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr5:1414821C>A	ENST00000270349.9	-	8	1268	c.1141G>T	c.(1141-1143)Gac>Tac	p.D381Y	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D381Y	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	381					adenohypophysis development (GO:0021984)|aging (GO:0007568)|cation transmembrane transport (GO:0098655)|cell death (GO:0008219)|dopamine biosynthetic process (GO:0042416)|dopamine catabolic process (GO:0042420)|dopamine transport (GO:0015872)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|neurotransmitter biosynthetic process (GO:0042136)|positive regulation of multicellular organism growth (GO:0040018)|prepulse inhibition (GO:0060134)|regulation of dopamine metabolic process (GO:0042053)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to nicotine (GO:0035094)|sensory perception of smell (GO:0007608)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	axon (GO:0030424)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine transmembrane transporter activity (GO:0005329)|dopamine:sodium symporter activity (GO:0005330)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Benzatropine(DB00245)|Benzphetamine(DB00865)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Cocaine(DB00907)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Diphenylpyraline(DB01146)|Dopamine(DB00988)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fencamfamine(DB01463)|Imipramine(DB00458)|Ioflupane I 123(DB08824)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Pethidine(DB00454)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TTGGCCACGTCCCCGATGGGC	0.607																																						dbGAP											0													74.0	58.0	64.0					5																	1414821		2201	4300	6501	-	-	-	SO:0001583	missense	0				CCDS3863.1	5p15.3	2013-07-19	2013-07-19		ENSG00000142319	ENSG00000142319		"""Solute carriers"""	11049	protein-coding gene	gene with protein product	"""dopamine transporter"""	126455	"""solute carrier family 6 (neurotransmitter transporter, dopamine), member 3"", ""dopamine transporter 1"""	DAT1		1406597	Standard	NM_001044		Approved	DAT	uc003jck.3	Q01959	OTTHUMG00000131016	ENST00000270349.9:c.1141G>T	5.37:g.1414821C>A	ENSP00000270349:p.Asp381Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	A2RUN4|Q14996	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_dopamine	p.D381Y	ENST00000270349.9	37	c.1141	CCDS3863.1	5	.	.	.	.	.	.	.	.	.	.	C	14.98	2.696912	0.48202	.	.	ENSG00000142319	ENST00000270349;ENST00000453492	T;T	0.75938	-0.98;-0.98	4.09	4.09	0.47781	.	0.112351	0.64402	D	0.000012	D	0.86883	0.6040	M	0.88906	2.99	0.45097	D	0.998114	D	0.63880	0.993	D	0.67382	0.951	D	0.89680	0.3890	10	0.87932	D	0	.	13.8206	0.63318	0.0:1.0:0.0:0.0	.	381	Q01959	SC6A3_HUMAN	Y	381	ENSP00000270349:D381Y;ENSP00000399806:D381Y	ENSP00000270349:D381Y	D	-	1	0	SLC6A3	1467821	0.988000	0.35896	0.993000	0.49108	0.478000	0.33099	2.638000	0.46562	1.837000	0.53436	0.555000	0.69702	GAC	SLC6A3	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000142319		0.607	SLC6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A3	HGNC	protein_coding	OTTHUMT00000253650.3	52	0.00	0	C	NM_001044		1414821	1414821	-1	no_errors	ENST00000270349	ensembl	human	known	69_37n	missense	34	17.07	7	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7577517	7577517	+	Missense_Mutation	SNP	A	A	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr17:7577517A>T	ENST00000269305.4	-	7	953	c.764T>A	c.(763-765)aTc>aAc	p.I255N	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Missense_Mutation_p.I255N|TP53_ENST00000445888.2_Missense_Mutation_p.I255N|TP53_ENST00000420246.2_Missense_Mutation_p.I255N|TP53_ENST00000413465.2_Missense_Mutation_p.I255N|TP53_ENST00000455263.2_Missense_Mutation_p.I255N	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	255	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I255S(10)|p.0?(8)|p.I255T(7)|p.I255del(7)|p.I255N(7)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(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)	TTCCAGTGTGATGATGGTGAG	0.582		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"""	44	Substitution - Missense(24)|Deletion - In frame(9)|Whole gene deletion(8)|Deletion - Frameshift(2)|Unknown(1)	breast(10)|pancreas(6)|ovary(4)|bone(4)|upper_aerodigestive_tract(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|oesophagus(2)|lung(2)|thyroid(1)|stomach(1)|liver(1)|endometrium(1)|skin(1)											145.0	104.0	118.0					17																	7577517		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.764T>A	17.37:g.7577517A>T	ENSP00000269305:p.Ile255Asn	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.I255N	ENST00000269305.4	37	c.764	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	17.04	3.286296	0.59867	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	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);	0.058771	0.64402	D	0.000004	D	0.99771	0.9906	M	0.82630	2.6	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;0.998;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.969;0.998;0.999;0.999	D	0.96936	0.9684	10	0.87932	D	0	-21.9257	12.3101	0.54924	1.0:0.0:0.0:0.0	.	255;255;255;255;255	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	N	255;255;255;255;255;255;244;123	ENSP00000410739:I255N;ENSP00000352610:I255N;ENSP00000269305:I255N;ENSP00000398846:I255N;ENSP00000391127:I255N;ENSP00000391478:I255N;ENSP00000425104:I123N	ENSP00000269305:I255N	I	-	2	0	TP53	7518242	1.000000	0.71417	0.998000	0.56505	0.393000	0.30537	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	118	0.00	0	A	NM_000546		7577517	7577517	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	71	21.74	20	SNP	1.000	T
TRO	7216	genome.wustl.edu	37	X	54950989	54950989	+	Splice_Site	SNP	G	G	T			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chrX:54950989G>T	ENST00000173898.7	+	4	1453		c.e4+1		TRO_ENST00000375022.4_Splice_Site|TRO_ENST00000375041.2_Splice_Site|TRO_ENST00000319167.8_Splice_Site|TRO_ENST00000399736.1_Splice_Site|SNORA11_ENST00000408823.1_RNA|TRO_ENST00000420798.2_Splice_Site|TRO_ENST00000484031.1_Splice_Site	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin						embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						ACAAGAAAGGGTAAGAATCCA	0.498																																						dbGAP											0													53.0	51.0	51.0					X																	54950989		2032	4174	6206	-	-	-	SO:0001630	splice_region_variant	0			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1341+1G>T	X.37:g.54950989G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Splice_Site	SNP	-	e3+1	ENST00000173898.7	37	c.1341+1	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	7.581	0.668791	0.14776	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000431115;ENST00000375041	.	.	.	2.65	2.65	0.31530	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8212	0.23859	0.0:0.2873:0.7127:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TRO	54967714	1.000000	0.71417	0.999000	0.59377	0.408000	0.30992	2.164000	0.42387	1.589000	0.49982	0.422000	0.28245	.	TRO	-	-	ENSG00000067445		0.498	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	261	0.00	0	G	NM_016157	Intron	54950989	54950989	+1	no_errors	ENST00000173898	ensembl	human	known	69_37n	splice_site	170	14.14	28	SNP	0.998	T
ZNF483	158399	genome.wustl.edu	37	9	114305275	114305275	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr9:114305275G>C	ENST00000309235.5	+	6	2218	c.2060G>C	c.(2059-2061)gGa>gCa	p.G687A	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	687					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(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						ATTCATACAGGAGAGAAACCC	0.388																																						dbGAP											0													69.0	68.0	68.0					9																	114305275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB075842	CCDS35105.1, CCDS35106.1	9q32	2013-01-09			ENSG00000173258	ENSG00000173258		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23384	protein-coding gene	gene with protein product							Standard	NM_001007169		Approved	ZKSCAN16, KIAA1962, ZSCAN48	uc004bff.2	Q8TF39	OTTHUMG00000020490	ENST00000309235.5:c.2060G>C	9.37:g.114305275G>C	ENSP00000311679:p.Gly687Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZN2|Q8NAE1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G687A	ENST00000309235.5	37	c.2060	CCDS35106.1	9	.	.	.	.	.	.	.	.	.	.	G	18.13	3.556352	0.65425	.	.	ENSG00000173258	ENST00000309235	T	0.01505	4.82	3.98	3.98	0.46160	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.45361	D	0.000366	T	0.06600	0.0169	L	0.60067	1.865	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	T	0.02533	-1.1145	10	0.87932	D	0	-20.4724	9.2872	0.37764	0.0:0.0:0.7855:0.2145	.	687	Q8TF39	ZN483_HUMAN	A	687	ENSP00000311679:G687A	ENSP00000311679:G687A	G	+	2	0	ZNF483	113345096	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	3.754000	0.55189	2.524000	0.85096	0.655000	0.94253	GGA	ZNF483	-	pfscan_Znf_C2H2	ENSG00000173258		0.388	ZNF483-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF483	HGNC	protein_coding	OTTHUMT00000053641.1	159	0.62	1	G	XM_088567		114305275	114305275	+1	no_errors	ENST00000309235	ensembl	human	known	69_37n	missense	122	15.86	23	SNP	1.000	C
ZNF93	81931	genome.wustl.edu	37	19	20045077	20045077	+	Nonsense_Mutation	SNP	C	C	G	rs140716963		TCGA-BH-A0DI-01A-21D-A12Q-09	TCGA-BH-A0DI-11A-32D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	3777748c-5614-4826-8cde-eb7ecefb8101	505bcff2-103a-4183-80cd-203ae6a5a31c	g.chr19:20045077C>G	ENST00000343769.5	+	4	1341	c.1313C>G	c.(1312-1314)tCa>tGa	p.S438*	AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						GTTGCATCCTCAACCCTTAGT	0.403																																						dbGAP											0													67.0	65.0	66.0					19																	20045077		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M61873	CCDS32973.1	19p12	2014-02-12	2006-05-12		ENSG00000184635	ENSG00000184635		"""Zinc fingers, C2H2-type"", ""-"""	13169	protein-coding gene	gene with protein product		603975	"""zinc finger protein 505"", ""zinc finger protein 93 (HTF34)"""	ZNF505		8467795, 2023909	Standard	NM_031218		Approved	HPF34, TF34, FLJ12488	uc002non.3	P35789	OTTHUMG00000182371	ENST00000343769.5:c.1313C>G	19.37:g.20045077C>G	ENSP00000342002:p.Ser438*	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMY2|B9EGT2|Q8N8Q4|Q9H9X5|Q9Y2N8	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S438*	ENST00000343769.5	37	c.1313	CCDS32973.1	19	.	.	.	.	.	.	.	.	.	.	N	15.67	2.902180	0.52227	.	.	ENSG00000184635	ENST00000343769;ENST00000427325	.	.	.	0.814	0.814	0.18756	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	3.8716	0.09039	0.416:0.5839:0.0:0.0	.	.	.	.	X	438;410	.	ENSP00000342002:S438X	S	+	2	0	ZNF93	19906077	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.065000	0.11617	0.183000	0.20059	0.186000	0.17326	TCA	ZNF93	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000184635		0.403	ZNF93-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF93	HGNC	protein_coding	OTTHUMT00000460808.2	121	0.00	0	C	NM_031218		20045077	20045077	+1	no_errors	ENST00000343769	ensembl	human	known	69_37n	nonsense	110	15.38	20	SNP	0.001	G
