#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_ORegAnno_bin	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
ABCA12	26154	genome.wustl.edu	37	2	215839540	215839540	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:215839540G>A	ENST00000272895.7	-	35	5649	c.5430C>T	c.(5428-5430)ttC>ttT	p.F1810F	ABCA12_ENST00000389661.4_Silent_p.F1492F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1810					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATTCCAGGGAAGTCCCACA	0.413																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													171.0	168.0	169.0					2																	215839540		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5430C>T	2.37:g.215839540G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F1810	ENST00000272895.7	37	c.5430	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	143	0.00	0	G	NM_173076		215839540	215839540	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	silent	125	40.19	84	SNP	1.000	A
ABCA12	26154	genome.wustl.edu	37	2	215839540	215839540	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:215839540G>A	ENST00000272895.7	-	35	5649	c.5430C>T	c.(5428-5430)ttC>ttT	p.F1810F	ABCA12_ENST00000389661.4_Silent_p.F1492F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1810					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAATTCCAGGGAAGTCCCACA	0.413																																					Ovarian(66;664 1488 5121 34295)	dbGAP											0													171.0	168.0	169.0					2																	215839540		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.5430C>T	2.37:g.215839540G>A			Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F1810	ENST00000272895.7	37	c.5430	CCDS33372.1	2																																																																																			ABCA12	-	NULL	ENSG00000144452		0.413	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	42	0.00	0	G	NM_173076		215839540	215839540	-1	no_errors	ENST00000272895	ensembl	human	known	69_37n	silent	18	33.33	9	SNP	1.000	A
ABCE1	6059	genome.wustl.edu	37	4	146031530	146031530	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:146031530A>G	ENST00000296577.4	+	7	1062	c.547A>G	c.(547-549)Aca>Gca	p.T183A	OTUD4_ENST00000455611.2_5'Flank|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	183	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GTGGCAGGGGACAGTGGGATC	0.299																																						dbGAP											0													100.0	102.0	102.0					4																	146031530		2203	4300	6503	-	-	-	SO:0001583	missense	0			X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.547A>G	4.37:g.146031530A>G	ENSP00000296577:p.Thr183Ala		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Missense_Mutation	SNP	pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E	p.T183A	ENST00000296577.4	37	c.547	CCDS34071.1	4	.	.	.	.	.	.	.	.	.	.	A	14.10	2.434244	0.43224	.	.	ENSG00000164163	ENST00000296577;ENST00000502586	D	0.93953	-3.32	5.39	5.39	0.77823	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.101198	0.64402	D	0.000001	D	0.91771	0.7397	M	0.75264	2.295	0.48571	D	0.999674	B	0.02656	0.0	B	0.08055	0.003	D	0.88142	0.2845	10	0.31617	T	0.26	-14.5865	11.6722	0.51408	0.852:0.148:0.0:0.0	.	183	P61221	ABCE1_HUMAN	A	183	ENSP00000296577:T183A	ENSP00000296577:T183A	T	+	1	0	ABCE1	146250980	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	4.401000	0.59716	2.168000	0.68352	0.455000	0.32223	ACA	ABCE1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000164163		0.299	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCE1	HGNC	protein_coding	OTTHUMT00000365104.1	297	0.67	2	A	NM_002940		146031530	146031530	+1	no_errors	ENST00000296577	ensembl	human	known	69_37n	missense	177	20.44	46	SNP	1.000	G
ACP5	54	genome.wustl.edu	37	19	11687535	11687535	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr19:11687535G>A	ENST00000592828.1	-	5	787	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.R129C|ACP5_ENST00000412435.2_Missense_Mutation_p.R129C|ACP5_ENST00000218758.5_Missense_Mutation_p.R129C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	129					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GCTCACCAGCGCTTGGAGATC	0.592																																						dbGAP											0													153.0	148.0	149.0					19																	11687535		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.385C>T	19.37:g.11687535G>A	ENSP00000468767:p.Arg129Cys		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.R129C	ENST00000592828.1	37	c.385	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	g	13.86	2.363851	0.41902	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.72167	-0.63;-0.63;-0.63	5.04	5.04	0.67666	Metallophosphoesterase domain (1);	0.058497	0.64402	D	0.000003	D	0.89305	0.6677	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92837	0.6285	10	0.87932	D	0	.	17.1275	0.86718	0.0:0.0:1.0:0.0	.	129	P13686	PPA5_HUMAN	C	129	ENSP00000218758:R129C;ENSP00000392374:R129C;ENSP00000413456:R129C	ENSP00000218758:R129C	R	-	1	0	ACP5	11548535	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	1.952000	0.40343	2.330000	0.79161	0.655000	0.94253	CGC	ACP5	-	pfam_Metallo_PEstase_dom	ENSG00000102575		0.592	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	137	0.00	0	G			11687535	11687535	-1	no_errors	ENST00000218758	ensembl	human	known	69_37n	missense	517	60.84	808	SNP	1.000	A
ACP5	54	genome.wustl.edu	37	19	11687535	11687535	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr19:11687535G>A	ENST00000592828.1	-	5	787	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	ACP5_ENST00000590420.1_Intron|ACP5_ENST00000433365.2_Missense_Mutation_p.R129C|ACP5_ENST00000412435.2_Missense_Mutation_p.R129C|ACP5_ENST00000218758.5_Missense_Mutation_p.R129C	NM_001111034.1	NP_001104504.1	P13686	PPA5_HUMAN	acid phosphatase 5, tartrate resistant	129					bone morphogenesis (GO:0060349)|bone resorption (GO:0045453)|defense response to Gram-positive bacterium (GO:0050830)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of superoxide anion generation (GO:0032929)|negative regulation of tumor necrosis factor production (GO:0032720)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|riboflavin metabolic process (GO:0006771)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	acid phosphatase activity (GO:0003993)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	9						GCTCACCAGCGCTTGGAGATC	0.592																																						dbGAP											0													153.0	148.0	149.0					19																	11687535		2203	4300	6503	-	-	-	SO:0001583	missense	0			X14618	CCDS12265.1	19p13.2	2012-10-02			ENSG00000102575	ENSG00000102575	3.1.3.2		124	protein-coding gene	gene with protein product	"""tartrate-resistant acid phosphatase"""	171640				8449511, 2338077	Standard	NM_001611		Approved	TRAP	uc002msj.4	P13686	OTTHUMG00000182036	ENST00000592828.1:c.385C>T	19.37:g.11687535G>A	ENSP00000468767:p.Arg129Cys		A8K3V2|Q2TAB1|Q6IAS6|Q9UCJ5|Q9UCJ6|Q9UCJ7	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom	p.R129C	ENST00000592828.1	37	c.385	CCDS12265.1	19	.	.	.	.	.	.	.	.	.	.	g	13.86	2.363851	0.41902	.	.	ENSG00000102575	ENST00000218758;ENST00000412435;ENST00000433365	T;T;T	0.72167	-0.63;-0.63;-0.63	5.04	5.04	0.67666	Metallophosphoesterase domain (1);	0.058497	0.64402	D	0.000003	D	0.89305	0.6677	H	0.95950	3.745	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92837	0.6285	10	0.87932	D	0	.	17.1275	0.86718	0.0:0.0:1.0:0.0	.	129	P13686	PPA5_HUMAN	C	129	ENSP00000218758:R129C;ENSP00000392374:R129C;ENSP00000413456:R129C	ENSP00000218758:R129C	R	-	1	0	ACP5	11548535	1.000000	0.71417	1.000000	0.80357	0.015000	0.08874	1.952000	0.40343	2.330000	0.79161	0.655000	0.94253	CGC	ACP5	-	pfam_Metallo_PEstase_dom	ENSG00000102575		0.592	ACP5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACP5	HGNC	protein_coding	OTTHUMT00000458881.1	79	0.00	0	G			11687535	11687535	-1	no_errors	ENST00000218758	ensembl	human	known	69_37n	missense	134	50.00	136	SNP	1.000	A
ADAMTS13	11093	genome.wustl.edu	37	9	136313811	136313812	+	In_Frame_Ins	INS	-	-	CGG			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr9:136313811_136313812insCGG	ENST00000371929.3	+	22	3267_3268	c.2823_2824insCGG	c.(2824-2826)cgg>CGGcgg	p.942_942R>RR	ADAMTS13_ENST00000355699.2_In_Frame_Ins_p.942_942R>RR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_In_Frame_Ins_p.911_911R>RR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	942	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGCCTGGGAGCCGGCGGGAGGT	0.644																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2827_2829dupCGG	9.37:g.136313815_136313817dupCGG	ENSP00000360997:p.Arg943dup		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	In_Frame_Ins	INS	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.943in_frame_insR	ENST00000371929.3	37	c.2823_2824	CCDS6970.1	9																																																																																			ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000160323		0.644	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	50	0.00	0	-	NM_139025		136313811	136313812	+1	no_errors	ENST00000371929	ensembl	human	known	69_37n	in_frame_ins	171	11.40	22	INS	0.008:0.027	CGG
ADAMTS13	11093	genome.wustl.edu	37	9	136313811	136313812	+	In_Frame_Ins	INS	-	-	CGG			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr9:136313811_136313812insCGG	ENST00000371929.3	+	22	3267_3268	c.2823_2824insCGG	c.(2824-2826)cgg>CGGcgg	p.942_942R>RR	ADAMTS13_ENST00000355699.2_In_Frame_Ins_p.942_942R>RR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000356589.2_In_Frame_Ins_p.911_911R>RR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	942	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		AGCCTGGGAGCCGGCGGGAGGT	0.644																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2827_2829dupCGG	9.37:g.136313815_136313817dupCGG	ENSP00000360997:p.Arg943dup		Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	In_Frame_Ins	INS	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.943in_frame_insR	ENST00000371929.3	37	c.2823_2824	CCDS6970.1	9																																																																																			ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt	ENSG00000160323		0.644	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	23	0.00	0	-	NM_139025		136313811	136313812	+1	no_errors	ENST00000371929	ensembl	human	known	69_37n	in_frame_ins	171	11.40	22	INS	0.008:0.027	CGG
AZIN2	113451	genome.wustl.edu	37	1	33583668	33583669	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:33583668_33583669insG	ENST00000294517.6	+	11	1782_1783	c.1195_1196insG	c.(1195-1197)tggfs	p.W399fs	ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Frame_Shift_Ins_p.W419fs|ADC_ENST00000373441.1_Frame_Shift_Ins_p.W419fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.W399fs	NM_052998.2	NP_443724.1	Q96A70	AZIN2_HUMAN		399					agmatine biosynthetic process (GO:0097055)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of protein catabolic process (GO:0042177)|ornithine metabolic process (GO:0006591)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of catalytic activity (GO:0043085)|positive regulation of polyamine transmembrane transport (GO:1902269)|putrescine transport (GO:0015847)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|trans-Golgi network membrane organization (GO:0098629)	axon (GO:0030424)|cis-Golgi network (GO:0005801)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|granular vesicle (GO:1990005)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)	catalytic activity (GO:0003824)|ornithine decarboxylase activator activity (GO:0042978)|putrescine transmembrane transporter activity (GO:0015489)			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)	TTCCCCCTTTTGGGGGACCCAG	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0																														ENST00000294517.6:c.1200dupG	1.37:g.33583673_33583673dupG	ENSP00000294517:p.Trp399fs		B2RDU5|D3DPQ9|Q5TIF4|Q5TIF5|Q5TIF6|Q8TF56|Q96L54|Q96L55|Q96L56|Q96L57|Q96MD9	Frame_Shift_Ins	INS	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.T421fs	ENST00000294517.6	37	c.1255_1256	CCDS375.1	1																																																																																			ADC	-	pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn/DAP/Arg_de-COase	ENSG00000142920		0.619	ADC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADC	HGNC	protein_coding	OTTHUMT00000011867.1	74	0.00	0	-			33583668	33583669	+1	no_errors	ENST00000373441	ensembl	human	known	69_37n	frame_shift_ins	78	11.36	10	INS	0.002:0.027	G
ADH1C	126	genome.wustl.edu	37	4	100273815	100273815	+	RNA	DEL	T	T	-			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr4:100273815delT	ENST00000510055.1	-	0	72				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTGCTTACTTTTCCTGCTG	0.308																																						dbGAP											0													125.0	120.0	122.0					4																	100273815		2203	4300	6503	-	-	-			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100273815delT			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Frame_Shift_Del	DEL	NULL	p.V7fs	ENST00000510055.1	37	c.18		4																																																																																			ADH1C	-	NULL	ENSG00000248144		0.308	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000365189.2	293	0.00	0	T	NM_000669		100273815	100273815	-1	pseudogene	ENST00000515683	ensembl	human	known	69_37n	frame_shift_del	495	20.10	126	DEL	1.000	-
ADH1C	126	genome.wustl.edu	37	4	100273815	100273815	+	RNA	DEL	T	T	-			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:100273815delT	ENST00000510055.1	-	0	72				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTGCTTACTTTTCCTGCTG	0.308																																						dbGAP											0													125.0	120.0	122.0					4																	100273815		2203	4300	6503	-	-	-			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100273815delT			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Frame_Shift_Del	DEL	NULL	p.V7fs	ENST00000510055.1	37	c.18		4																																																																																			ADH1C	-	NULL	ENSG00000248144		0.308	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000365189.2	358	0.00	0	T	NM_000669		100273815	100273815	-1	pseudogene	ENST00000515683	ensembl	human	known	69_37n	frame_shift_del	495	20.10	126	DEL	1.000	-
ADH1C	126	genome.wustl.edu	37	4	100273815	100273815	+	RNA	DEL	T	T	-			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr4:100273815delT	ENST00000510055.1	-	0	72				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase (NAD) activity (GO:0004022)|zinc ion binding (GO:0008270)								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	TTTTGCTTACTTTTCCTGCTG	0.308																																						dbGAP											0													125.0	120.0	122.0					4																	100273815		2203	4300	6503	-	-	-			0			M12272		4q23	2010-03-16			ENSG00000248144	ENSG00000248144	1.1.1.1	"""Alcohol dehydrogenases"""	251	protein-coding gene	gene with protein product		103730		ADH3		3006456	Standard	NM_000669		Approved		uc031sgp.1	P00326	OTTHUMG00000161422		4.37:g.100273815delT			Q4PJ18|Q5WRV0|Q6LBW4|Q6NWV0|Q6NZA7	Frame_Shift_Del	DEL	NULL	p.V7fs	ENST00000510055.1	37	c.18		4																																																																																			ADH1C	-	NULL	ENSG00000248144		0.308	ADH1C-004	KNOWN	mRNA_end_NF|basic	processed_transcript	ADH1C	HGNC	polymorphic_pseudogene	OTTHUMT00000365189.2	73	0.00	0	T	NM_000669		100273815	100273815	-1	pseudogene	ENST00000515683	ensembl	human	known	69_37n	frame_shift_del	71	15.48	13	DEL	1.000	-
ALDH4A1	8659	genome.wustl.edu	37	1	19200966	19200966	+	Missense_Mutation	SNP	G	G	C	rs199789740		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:19200966G>C	ENST00000375341.3	-	14	1827	c.1570C>G	c.(1570-1572)Cga>Gga	p.R524G	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.R464G|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.R524G|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.R473G	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	524				RAS -> GSA (in Ref. 10; AA sequence). {ECO:0000305}.	4-hydroxyproline catabolic process (GO:0019470)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|proline biosynthetic process (GO:0006561)|proline catabolic process (GO:0006562)|proline catabolic process to glutamate (GO:0010133)|proline metabolic process (GO:0006560)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	1-pyrroline-5-carboxylate dehydrogenase activity (GO:0003842)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|electron carrier activity (GO:0009055)|identical protein binding (GO:0042802)			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGAGGCTCGGGCCCCCCCA	0.602																																						dbGAP											0													70.0	70.0	70.0					1																	19200966		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24266	CCDS188.1, CCDS53272.1	1p36	2008-02-05			ENSG00000159423	ENSG00000159423	1.5.1.12	"""Aldehyde dehydrogenases"""	406	protein-coding gene	gene with protein product		606811		ALDH4		8621661	Standard	NM_003748		Approved	P5CDh	uc001bbc.3	P30038	OTTHUMG00000002443	ENST00000375341.3:c.1570C>G	1.37:g.19200966G>C	ENSP00000364490:p.Arg524Gly		A8K1Q7|B4DGE4|D2D4A3|Q16882|Q53HU4|Q5JNV6|Q8IZ38|Q96IF0|Q9UDI6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1	p.R524G	ENST00000375341.3	37	c.1570	CCDS188.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.980747	0.74474	.	.	ENSG00000159423	ENST00000290597;ENST00000375341;ENST00000538839;ENST00000538309	T;T;T;T	0.75704	-0.96;-0.96;1.79;-0.96	5.42	5.42	0.78866	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, C-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.366827	0.30437	N	0.009623	T	0.79958	0.4536	L	0.35542	1.07	0.80722	D	1	D	0.71674	0.998	D	0.70227	0.968	T	0.82032	-0.0658	10	0.87932	D	0	-14.6143	15.9436	0.79776	0.0:0.0:1.0:0.0	.	524	P30038	AL4A1_HUMAN	G	524;524;473;464	ENSP00000290597:R524G;ENSP00000364490:R524G;ENSP00000446071:R473G;ENSP00000442988:R464G	ENSP00000290597:R524G	R	-	1	2	ALDH4A1	19073553	1.000000	0.71417	0.991000	0.47740	0.957000	0.61999	5.467000	0.66737	2.539000	0.85634	0.561000	0.74099	CGA	ALDH4A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Delta1-pyrroline-5-COlate_DH-1	ENSG00000159423		0.602	ALDH4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH4A1	HGNC	protein_coding	OTTHUMT00000006954.1	45	0.00	0	G			19200966	19200966	-1	no_errors	ENST00000290597	ensembl	human	known	69_37n	missense	94	34.93	51	SNP	1.000	C
ALS2	57679	genome.wustl.edu	37	2	202622370	202622370	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:202622370G>C	ENST00000264276.6	-	5	1598	c.1226C>G	c.(1225-1227)gCt>gGt	p.A409G		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	409					behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTCATAAGTAGCAGCCACTCT	0.502																																						dbGAP											0													68.0	70.0	69.0					2																	202622370		1985	4183	6168	-	-	-	SO:0001583	missense	0			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.1226C>G	2.37:g.202622370G>C	ENSP00000264276:p.Ala409Gly		Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_DH-domain,smart_MORN,prints_Reg_chr_condens,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain	p.A409G	ENST00000264276.6	37	c.1226	CCDS42800.1	2	.	.	.	.	.	.	.	.	.	.	G	18.65	3.669186	0.67814	.	.	ENSG00000003393	ENST00000264276	T	0.58797	0.31	5.45	5.45	0.79879	.	0.055265	0.64402	D	0.000001	T	0.70378	0.3217	L	0.39898	1.24	0.80722	D	1	D;P;P	0.89917	1.0;0.872;0.555	D;B;B	0.83275	0.996;0.196;0.138	T	0.69304	-0.5180	10	0.48119	T	0.1	.	19.6467	0.95778	0.0:0.0:1.0:0.0	.	409;409;409	Q96Q42-3;Q6IQ41;Q96Q42	.;.;ALS2_HUMAN	G	409	ENSP00000264276:A409G	ENSP00000264276:A409G	A	-	2	0	ALS2	202330615	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	8.979000	0.93455	2.710000	0.92621	0.563000	0.77884	GCT	ALS2	-	NULL	ENSG00000003393		0.502	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	105	0.00	0	G	NM_020919		202622370	202622370	-1	no_errors	ENST00000264276	ensembl	human	known	69_37n	missense	104	60.15	157	SNP	1.000	C
ANGPT2	285	genome.wustl.edu	37	8	6371330	6371330	+	Silent	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr8:6371330T>C	ENST00000325203.5	-	7	1542	c.1068A>G	c.(1066-1068)ggA>ggG	p.G356G	MCPH1_ENST00000344683.5_Intron|ANGPT2_ENST00000415216.1_Silent_p.G355G|ANGPT2_ENST00000523120.1_Silent_p.G355G|ANGPT2_ENST00000338312.6_Silent_p.G304G			O15123	ANGP2_HUMAN	angiopoietin 2	356	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to growth factor stimulus (GO:0071363)|germ cell development (GO:0007281)|glomerulus vasculature development (GO:0072012)|leukocyte migration (GO:0050900)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of positive chemotaxis (GO:0050928)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to radiation (GO:0009314)|signal transduction (GO:0007165)|Tie signaling pathway (GO:0048014)	cell projection (GO:0042995)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(245;0.0663)		Colorectal(4;0.0142)|READ - Rectum adenocarcinoma(4;0.19)|COAD - Colon adenocarcinoma(4;0.226)		CAAACTCATTTCCCAGCCAAT	0.348																																						dbGAP											0													100.0	105.0	103.0					8																	6371330		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF004327	CCDS5958.1, CCDS47761.1	8p23	2013-02-06			ENSG00000091879	ENSG00000091879		"""Fibrinogen C domain containing"""	485	protein-coding gene	gene with protein product		601922				9545648	Standard	NM_001147		Approved	Ang2	uc003wqj.4	O15123	OTTHUMG00000090365	ENST00000325203.5:c.1068A>G	8.37:g.6371330T>C			A0AV38|A8K205|B7ZLM7|Q9NRR7|Q9P2Y7	Silent	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.G356	ENST00000325203.5	37	c.1068	CCDS5958.1	8																																																																																			ANGPT2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000091879		0.348	ANGPT2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANGPT2	HGNC	protein_coding	OTTHUMT00000206737.1	195	0.51	1	T	NM_001147		6371330	6371330	-1	no_errors	ENST00000325203	ensembl	human	known	69_37n	silent	112	36.36	64	SNP	1.000	C
ANKRD32	84250	genome.wustl.edu	37	5	94014548	94014548	+	Silent	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:94014548A>G	ENST00000265140.5	+	15	2282	c.1863A>G	c.(1861-1863)ggA>ggG	p.G621G		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	621						centrosome (GO:0005813)|nucleus (GO:0005634)		p.G621G(4)		NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TATTGGCTGGAATTCTTGGAG	0.308																																						dbGAP											4	Substitution - coding silent(4)	endometrium(3)|kidney(1)																																								-	-	-	SO:0001819	synonymous_variant	0			AL136560	CCDS4071.2	5q15	2013-01-10			ENSG00000133302	ENSG00000133302		"""Ankyrin repeat domain containing"""	25408	protein-coding gene	gene with protein product			"""BRCT domain containing 1"""	BRCTD1			Standard	NM_032290		Approved	DKFZp761C121, DKFZp564C0469	uc003kkr.4	Q9BQI6	OTTHUMG00000121133	ENST00000265140.5:c.1863A>G	5.37:g.94014548A>G			B4DMG4|Q3B7K4|Q6NSA5|Q6PHW9|Q9Y402	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G621	ENST00000265140.5	37	c.1863	CCDS4071.2	5																																																																																			ANKRD32	-	NULL	ENSG00000133302		0.308	ANKRD32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD32	HGNC	protein_coding	OTTHUMT00000241610.1	263	0.38	1	A	NM_032290		94014548	94014548	+1	no_errors	ENST00000265140	ensembl	human	known	69_37n	silent	146	54.63	177	SNP	1.000	G
ANO4	121601	genome.wustl.edu	37	12	101504218	101504218	+	Missense_Mutation	SNP	C	C	G	rs527999237		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:101504218C>G	ENST00000392977.3	+	23	2396	c.2186C>G	c.(2185-2187)gCt>gGt	p.A729G	ANO4_ENST00000550015.1_Missense_Mutation_p.A249G|ANO4_ENST00000392979.3_Missense_Mutation_p.A694G|ANO4_ENST00000299222.9_Missense_Mutation_p.A249G			Q32M45	ANO4_HUMAN	anoctamin 4	729					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TTTGTGGCAGCTTTTCCCCTA	0.373										HNSCC(74;0.22)																												dbGAP											0													99.0	99.0	99.0					12																	101504218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2186C>G	12.37:g.101504218C>G	ENSP00000376703:p.Ala729Gly		Q8NAJ0|Q8NB39|Q8NB53	Missense_Mutation	SNP	pfam_Anoctamin	p.A729G	ENST00000392977.3	37	c.2186		12	.	.	.	.	.	.	.	.	.	.	C	29.0	4.965548	0.92855	.	.	ENSG00000151572	ENST00000392979;ENST00000299222;ENST00000392977;ENST00000550015	T;T;T;T	0.70631	-0.5;-0.5;-0.5;-0.5	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.87573	0.6211	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	D	0.90117	0.4196	10	0.87932	D	0	.	18.8287	0.92128	0.0:1.0:0.0:0.0	.	249;729;694	Q32M45-3;Q32M45;Q32M45-2	.;ANO4_HUMAN;.	G	694;249;729;249	ENSP00000376705:A694G;ENSP00000299222:A249G;ENSP00000376703:A729G;ENSP00000450192:A249G	ENSP00000299222:A249G	A	+	2	0	ANO4	100028349	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.438000	0.82558	0.655000	0.94253	GCT	ANO4	-	pfam_Anoctamin	ENSG00000151572		0.373	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	281	0.35	1	C	NM_178826		101504218	101504218	+1	no_errors	ENST00000392977	ensembl	human	known	69_37n	missense	232	17.14	48	SNP	1.000	G
AP1M1	8907	genome.wustl.edu	37	19	16339652	16339652	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr19:16339652C>T	ENST00000291439.3	+	9	1409	c.960C>T	c.(958-960)gcC>gcT	p.A320A	AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Silent_p.A248A|AP1M1_ENST00000444449.2_Silent_p.A332A|AP1M1_ENST00000541844.1_Silent_p.A248A	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	320	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCAATGATGCCGACTCACCCA	0.602																																						dbGAP											0													219.0	139.0	166.0					19																	16339652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.960C>T	19.37:g.16339652C>T			Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.P77L	ENST00000291439.3	37	c.230	CCDS12342.1	19																																																																																			AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000072958		0.602	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	104	0.00	0	C	NM_032493		16339652	16339652	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586543	ensembl	human	putative	69_37n	missense	30	92.15	352	SNP	0.981	T
AP1M1	8907	genome.wustl.edu	37	19	16339652	16339652	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr19:16339652C>T	ENST00000291439.3	+	9	1409	c.960C>T	c.(958-960)gcC>gcT	p.A320A	AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Silent_p.A248A|AP1M1_ENST00000444449.2_Silent_p.A332A|AP1M1_ENST00000541844.1_Silent_p.A248A	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	320	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCAATGATGCCGACTCACCCA	0.602																																						dbGAP											0													219.0	139.0	166.0					19																	16339652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.960C>T	19.37:g.16339652C>T			Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.P77L	ENST00000291439.3	37	c.230	CCDS12342.1	19																																																																																			AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000072958		0.602	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	96	0.00	0	C	NM_032493		16339652	16339652	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586543	ensembl	human	putative	69_37n	missense	15	88.37	114	SNP	0.981	T
AP1M1	8907	genome.wustl.edu	37	19	16339652	16339652	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr19:16339652C>T	ENST00000291439.3	+	9	1409	c.960C>T	c.(958-960)gcC>gcT	p.A320A	AP1M1_ENST00000429941.2_Intron|AP1M1_ENST00000590756.1_Silent_p.A248A|AP1M1_ENST00000444449.2_Silent_p.A332A|AP1M1_ENST00000541844.1_Silent_p.A248A	NM_032493.3	NP_115882.1	Q9BXS5	AP1M1_HUMAN	adaptor-related protein complex 1, mu 1 subunit	320	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|endosome to melanosome transport (GO:0035646)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|membrane organization (GO:0061024)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|trans-Golgi network membrane (GO:0032588)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|prostate(2)	21						CCAATGATGCCGACTCACCCA	0.602																																						dbGAP											0													219.0	139.0	166.0					19																	16339652		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12342.1, CCDS46008.1	19p13.12	2008-05-23							13667	protein-coding gene	gene with protein product		603535				9653655, 17988225	Standard	NM_032493		Approved	AP47, CLAPM2	uc002ndv.2	Q9BXS5		ENST00000291439.3:c.960C>T	19.37:g.16339652C>T			Q4TTY5	Missense_Mutation	SNP	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,prints_Clathrin_mu,pfscan_Clathrin_mu_C	p.P77L	ENST00000291439.3	37	c.230	CCDS12342.1	19																																																																																			AP1M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C	ENSG00000072958		0.602	AP1M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP1M1	HGNC	protein_coding	OTTHUMT00000460492.1	130	0.76	1	C	NM_032493		16339652	16339652	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586543	ensembl	human	putative	69_37n	missense	30	92.15	352	SNP	0.981	T
ARID2	196528	genome.wustl.edu	37	12	46245837	46245837	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr12:46245837A>G	ENST00000334344.6	+	15	4103	c.3931A>G	c.(3931-3933)Aaa>Gaa	p.K1311E	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.K921E|ARID2_ENST00000422737.1_Missense_Mutation_p.K1162E|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1311					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACTCAGGGAAAATTCAAAG	0.408			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													50.0	50.0	50.0					12																	46245837		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3931A>G	12.37:g.46245837A>G	ENSP00000335044:p.Lys1311Glu		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.K1311E	ENST00000334344.6	37	c.3931	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587157	0.66105	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.35048	1.33	6.07	6.07	0.98685	.	0.081660	0.85682	D	0.000000	T	0.40767	0.1130	L	0.27053	0.805	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.979	P;P;B	0.53062	0.717;0.717;0.444	T	0.26326	-1.0106	10	0.56958	D	0.05	-13.4405	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1311;921;1311	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	E	1311;428;428;1162;921	ENSP00000335044:K1311E	ENSP00000335044:K1311E	K	+	1	0	ARID2	44532104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.690000	0.91272	2.326000	0.78906	0.533000	0.62120	AAA	ARID2	-	NULL	ENSG00000189079		0.408	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	42	0.00	0	A	XM_350875		46245837	46245837	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	missense	47	41.98	34	SNP	1.000	G
ARID2	196528	genome.wustl.edu	37	12	46245837	46245837	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr12:46245837A>G	ENST00000334344.6	+	15	4103	c.3931A>G	c.(3931-3933)Aaa>Gaa	p.K1311E	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.K921E|ARID2_ENST00000422737.1_Missense_Mutation_p.K1162E|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1311					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACTCAGGGAAAATTCAAAG	0.408			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													50.0	50.0	50.0					12																	46245837		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3931A>G	12.37:g.46245837A>G	ENSP00000335044:p.Lys1311Glu		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.K1311E	ENST00000334344.6	37	c.3931	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587157	0.66105	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.35048	1.33	6.07	6.07	0.98685	.	0.081660	0.85682	D	0.000000	T	0.40767	0.1130	L	0.27053	0.805	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.979	P;P;B	0.53062	0.717;0.717;0.444	T	0.26326	-1.0106	10	0.56958	D	0.05	-13.4405	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1311;921;1311	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	E	1311;428;428;1162;921	ENSP00000335044:K1311E	ENSP00000335044:K1311E	K	+	1	0	ARID2	44532104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.690000	0.91272	2.326000	0.78906	0.533000	0.62120	AAA	ARID2	-	NULL	ENSG00000189079		0.408	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	23	0.00	0	A	XM_350875		46245837	46245837	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	1.000	G
ARID2	196528	genome.wustl.edu	37	12	46245837	46245837	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:46245837A>G	ENST00000334344.6	+	15	4103	c.3931A>G	c.(3931-3933)Aaa>Gaa	p.K1311E	ARID2_ENST00000457135.1_5'Flank|ARID2_ENST00000444670.1_Missense_Mutation_p.K921E|ARID2_ENST00000422737.1_Missense_Mutation_p.K1162E|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1311					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACTCAGGGAAAATTCAAAG	0.408			"""N, S, F"""		hepatocellular carcinoma																																	dbGAP		Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													50.0	50.0	50.0					12																	46245837		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3931A>G	12.37:g.46245837A>G	ENSP00000335044:p.Lys1311Glu		Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.K1311E	ENST00000334344.6	37	c.3931	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	18.27	3.587157	0.66105	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.35048	1.33	6.07	6.07	0.98685	.	0.081660	0.85682	D	0.000000	T	0.40767	0.1130	L	0.27053	0.805	0.80722	D	1	D;D;D	0.60575	0.988;0.988;0.979	P;P;B	0.53062	0.717;0.717;0.444	T	0.26326	-1.0106	10	0.56958	D	0.05	-13.4405	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1311;921;1311	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	E	1311;428;428;1162;921	ENSP00000335044:K1311E	ENSP00000335044:K1311E	K	+	1	0	ARID2	44532104	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.690000	0.91272	2.326000	0.78906	0.533000	0.62120	AAA	ARID2	-	NULL	ENSG00000189079		0.408	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	43	0.00	0	A	XM_350875		46245837	46245837	+1	no_errors	ENST00000334344	ensembl	human	known	69_37n	missense	47	41.98	34	SNP	1.000	G
ARID4B	51742	genome.wustl.edu	37	1	235418998	235419001	+	Frame_Shift_Del	DEL	GTTA	GTTA	-			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	GTTA	GTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:235418998_235419001delGTTA	ENST00000264183.3	-	5	745_748	c.248_251delTAAC	c.(247-252)ctaacafs	p.LT83fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.LT83fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.LT83fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	83					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTCGCATCTGTTAGTTTATTGAT	0.275																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.248_251delTAAC	1.37:g.235418998_235419001delGTTA	ENSP00000264183:p.Leu83fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L83fs	ENST00000264183.3	37	c.251_248	CCDS31061.1	1																																																																																			ARID4B	-	smart_Tudor	ENSG00000054267		0.275	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	170	0.58	1	GTTA	NM_016374		235418998	235419001	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	frame_shift_del	323	12.94	48	DEL	1.000:1.000:1.000:1.000	-
ARID4B	51742	genome.wustl.edu	37	1	235418998	235419001	+	Frame_Shift_Del	DEL	GTTA	GTTA	-			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	GTTA	GTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:235418998_235419001delGTTA	ENST00000264183.3	-	5	745_748	c.248_251delTAAC	c.(247-252)ctaacafs	p.LT83fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.LT83fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.LT83fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	83					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTCGCATCTGTTAGTTTATTGAT	0.275																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.248_251delTAAC	1.37:g.235418998_235419001delGTTA	ENSP00000264183:p.Leu83fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L83fs	ENST00000264183.3	37	c.251_248	CCDS31061.1	1																																																																																			ARID4B	-	smart_Tudor	ENSG00000054267		0.275	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	185	0.00	0	GTTA	NM_016374		235418998	235419001	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	frame_shift_del	323	12.94	48	DEL	1.000:1.000:1.000:1.000	-
ARID4B	51742	genome.wustl.edu	37	1	235418998	235419001	+	Frame_Shift_Del	DEL	GTTA	GTTA	-			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	GTTA	GTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:235418998_235419001delGTTA	ENST00000264183.3	-	5	745_748	c.248_251delTAAC	c.(247-252)ctaacafs	p.LT83fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.LT83fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.LT83fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	83					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTCGCATCTGTTAGTTTATTGAT	0.275																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.248_251delTAAC	1.37:g.235418998_235419001delGTTA	ENSP00000264183:p.Leu83fs		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Frame_Shift_Del	DEL	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.L83fs	ENST00000264183.3	37	c.251_248	CCDS31061.1	1																																																																																			ARID4B	-	smart_Tudor	ENSG00000054267		0.275	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	59	0.00	0	GTTA	NM_016374		235418998	235419001	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	frame_shift_del	90	10.00	10	DEL	1.000:1.000:1.000:1.000	-
ASXL2	55252	genome.wustl.edu	37	2	25967215	25967215	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:25967215G>A	ENST00000435504.4	-	13	2284	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	ASXL2_ENST00000336112.4_Missense_Mutation_p.A636V|ASXL2_ENST00000272341.4_Missense_Mutation_p.A404V|ASXL2_ENST00000404843.1_Missense_Mutation_p.A404V			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	664	Ala-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAGTTGGGCTTTTGCTTT	0.587																																						dbGAP											0													63.0	59.0	60.0					2																	25967215		1862	4104	5966	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1991C>T	2.37:g.25967215G>A	ENSP00000391447:p.Ala664Val		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.A664V	ENST00000435504.4	37	c.1991		2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488164	0.84854	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	.	0.050793	0.85682	D	0.000000	T	0.80138	0.4568	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.79688	-0.1699	10	0.54805	T	0.06	-17.7497	18.9232	0.92534	0.0:0.0:1.0:0.0	.	404;664	Q76L83-2;Q76L83	.;ASXL2_HUMAN	V	664;636;404;404	ENSP00000391447:A664V;ENSP00000337250:A636V;ENSP00000383920:A404V;ENSP00000272341:A404V	ENSP00000272341:A404V	A	-	2	0	ASXL2	25820719	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.074000	0.93998	2.816000	0.96949	0.563000	0.77884	GCC	ASXL2	-	NULL	ENSG00000143970		0.587	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	119	0.00	0	G	NM_018263		25967215	25967215	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	245	14.04	40	SNP	1.000	A
ASXL2	55252	genome.wustl.edu	37	2	25967215	25967215	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:25967215G>A	ENST00000435504.4	-	13	2284	c.1991C>T	c.(1990-1992)gCc>gTc	p.A664V	ASXL2_ENST00000336112.4_Missense_Mutation_p.A636V|ASXL2_ENST00000272341.4_Missense_Mutation_p.A404V|ASXL2_ENST00000404843.1_Missense_Mutation_p.A404V			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	664	Ala-rich.				adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GACCAGTTGGGCTTTTGCTTT	0.587																																						dbGAP											0													63.0	59.0	60.0					2																	25967215		1862	4104	5966	-	-	-	SO:0001583	missense	0					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1991C>T	2.37:g.25967215G>A	ENSP00000391447:p.Ala664Val		Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.A664V	ENST00000435504.4	37	c.1991		2	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488164	0.84854	.	.	ENSG00000143970	ENST00000435504;ENST00000336112;ENST00000404843;ENST00000272341	T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04	5.94	5.94	0.96194	.	0.050793	0.85682	D	0.000000	T	0.80138	0.4568	M	0.76574	2.34	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.79688	-0.1699	10	0.54805	T	0.06	-17.7497	18.9232	0.92534	0.0:0.0:1.0:0.0	.	404;664	Q76L83-2;Q76L83	.;ASXL2_HUMAN	V	664;636;404;404	ENSP00000391447:A664V;ENSP00000337250:A636V;ENSP00000383920:A404V;ENSP00000272341:A404V	ENSP00000272341:A404V	A	-	2	0	ASXL2	25820719	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	9.074000	0.93998	2.816000	0.96949	0.563000	0.77884	GCC	ASXL2	-	NULL	ENSG00000143970		0.587	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	30	0.00	0	G	NM_018263		25967215	25967215	-1	no_errors	ENST00000435504	ensembl	human	known	69_37n	missense	42	25.00	14	SNP	1.000	A
ATP7A	538	genome.wustl.edu	37	X	77244950	77244950	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:77244950A>C	ENST00000341514.6	+	4	987	c.832A>C	c.(832-834)Aca>Cca	p.T278P	ATP7A_ENST00000343533.5_Missense_Mutation_p.T278P|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	278	HMA 3. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CAATGATTCAACAGCCACTTT	0.383																																						dbGAP											0													159.0	142.0	148.0					X																	77244950		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.832A>C	X.37:g.77244950A>C	ENSP00000345728:p.Thr278Pro		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.T278P	ENST00000341514.6	37	c.832	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	A	9.433	1.086138	0.20390	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.88664	-2.41;-2.41	5.12	1.08	0.20341	Heavy metal-associated domain, HMA (2);	0.618462	0.16819	N	0.198258	D	0.89339	0.6687	M	0.93283	3.4	0.09310	N	0.999994	B;B	0.12013	0.003;0.005	B;B	0.13407	0.003;0.009	T	0.82920	-0.0218	10	0.54805	T	0.06	-1.447	5.1846	0.15178	0.7112:0.0:0.1551:0.1337	.	278;288	Q04656;Q59HD1	ATP7A_HUMAN;.	P	278;278;288	ENSP00000343026:T278P;ENSP00000345728:T278P	ENSP00000345728:T278P	T	+	1	0	ATP7A	77131606	0.985000	0.35326	0.963000	0.40424	0.796000	0.44982	1.804000	0.38873	0.641000	0.30601	0.478000	0.44815	ACA	ATP7A	-	superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA	ENSG00000165240		0.383	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	191	0.52	1	A	NM_000052		77244950	77244950	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	98	38.36	61	SNP	0.009	C
ATP6AP1	537	genome.wustl.edu	37	X	153660070	153660070	+	Intron	SNP	T	T	C	rs3737557	byFrequency	TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chrX:153660070T>C	ENST00000369762.2	+	3	349				ATP6AP1_ENST00000484908.1_3'UTR	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1						ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACTCTCAGTGAGACTTTGC	0.592													T|||	1610	0.42649	0.5847	0.2752	3775	,	,		12493	0.1875		0.1233	False		,,,				2504	0.3405					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.289-106T>C	X.37:g.153660070T>C			A6ZKI4|Q8NBT4|Q9H0C7	RNA	SNP	-	NULL	ENST00000369762.2	37	NULL	CCDS35451.1	X																																																																																			ATP6AP1	-	-	ENSG00000071553		0.592	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	44	0.00	0	T	NM_001183		153660070	153660070	+1	no_errors	ENST00000484908	ensembl	human	known	69_37n	rna	20	13.04	3	SNP	0.002	C
BCR	613	genome.wustl.edu	37	22	23652503	23652503	+	Intron	SNP	T	T	C	rs201201470	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr22:23652503T>C	ENST00000305877.8	+	18	3823				BCR_ENST00000436990.2_3'UTR|BCR_ENST00000359540.3_Intron	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region						actin cytoskeleton organization (GO:0030036)|brain development (GO:0007420)|inner ear morphogenesis (GO:0042472)|negative regulation of cell migration (GO:0030336)|negative regulation of inflammatory response (GO:0050728)|negative regulation of neutrophil degranulation (GO:0043314)|neuromuscular process controlling balance (GO:0050885)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of phagocytosis (GO:0050766)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|kinase activity (GO:0016301)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)|Rac GTPase activator activity (GO:0030675)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.?(1)	BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35					Bosutinib(DB06616)|Ponatinib(DB08901)	CCCTTCTCCCTACTGTAGATC	0.532			T	"""ABL1,  FGFR1, JAK2 """	"""CML, ALL, AML"""								C|||	1567	0.312899	0.2784	0.2305	5008	,	,		15891	0.621		0.2227	False		,,,				2504	0.1933					dbGAP		Dom	yes		22	22q11.21	613	breakpoint cluster region		L	1	Unknown(1)	stomach(1)											47.0	46.0	46.0					22																	23652503		1653	3598	5251	-	-	-	SO:0001627	intron_variant	0				CCDS13806.1, CCDS13807.1	22q11	2013-01-10			ENSG00000186716	ENSG00000186716		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	1014	protein-coding gene	gene with protein product		151410		D22S11, BCR1		1657398, 18070886	Standard	NM_004327		Approved	D22S662, CML, PHL, ALL	uc002zww.3	P11274	OTTHUMG00000150655	ENST00000305877.8:c.3073-8T>C	22.37:g.23652503T>C			P78501|Q12842|Q4LE80|Q6NZI3	RNA	SNP	-	NULL	ENST00000305877.8	37	NULL	CCDS13806.1	22																																																																																			BCR	-	-	ENSG00000186716		0.532	BCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCR	HGNC	protein_coding	OTTHUMT00000075819.1	99	0.00	0	T	NM_004327		23652503	23652503	+1	no_errors	ENST00000419722	ensembl	human	known	69_37n	rna	20	25.93	7	SNP	0.000	C
BEST1	7439	genome.wustl.edu	37	11	61719355	61719355	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:61719355G>C	ENST00000378043.4	+	2	720	c.77G>C	c.(76-78)gGc>gCc	p.G26A	BEST1_ENST00000301774.9_Intron|BEST1_ENST00000378042.3_5'UTR|BEST1_ENST00000449131.2_Intron|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000435278.2_Missense_Mutation_p.G26A	NM_004183.3	NP_004174.1	O76090	BEST1_HUMAN	bestrophin 1	26			G -> R (in VMD2). {ECO:0000269|PubMed:14517959}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|detection of light stimulus involved in visual perception (GO:0050908)|ion transmembrane transport (GO:0034220)|regulation of calcium ion transport (GO:0051924)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	basolateral plasma membrane (GO:0016323)|chloride channel complex (GO:0034707)|cytosol (GO:0005829)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						TGCTGGCGGGGCAGCATCTAC	0.562																																						dbGAP											0													85.0	87.0	86.0					11																	61719355		2202	4299	6501	-	-	-	SO:0001583	missense	0			AF057170	CCDS31580.1, CCDS44623.1	11q12	2013-02-14	2006-10-18	2006-10-18	ENSG00000167995	ENSG00000167995		"""Ion channels / Chloride channels : Calcium activated : Bestrophins"""	12703	protein-coding gene	gene with protein product	"""Best disease"""	607854	"""vitelliform macular dystrophy 2"""	VMD2		1302019, 17003041	Standard	NM_004183		Approved	BMD, BEST, RP50	uc001nsr.2	O76090	OTTHUMG00000167469	ENST00000378043.4:c.77G>C	11.37:g.61719355G>C	ENSP00000367282:p.Gly26Ala		A8K0W6|B7Z3J8|B7Z736|O75904|Q53YQ9|Q8IUR9|Q8IZ80	Missense_Mutation	SNP	pfam_Bestrophin/UPF0187	p.G26A	ENST00000378043.4	37	c.77	CCDS31580.1	11	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887194	0.91814	.	.	ENSG00000167995	ENST00000378043;ENST00000435278	D;D	0.99129	-5.46;-5.46	5.46	5.46	0.80206	.	0.000000	0.64402	U	0.000001	D	0.98982	0.9653	L	0.52126	1.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99905	1.1178	10	0.54805	T	0.06	.	18.9153	0.92503	0.0:0.0:1.0:0.0	.	26;26	B7Z375;O76090	.;BEST1_HUMAN	A	26	ENSP00000367282:G26A;ENSP00000408390:G26A	ENSP00000367282:G26A	G	+	2	0	BEST1	61475931	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	9.722000	0.98770	2.567000	0.86603	0.561000	0.74099	GGC	BEST1	-	pfam_Bestrophin/UPF0187	ENSG00000167995		0.562	BEST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEST1	HGNC	protein_coding	OTTHUMT00000394715.1	158	0.63	1	G	NM_004183		61719355	61719355	+1	no_errors	ENST00000378043	ensembl	human	known	69_37n	missense	120	26.83	44	SNP	1.000	C
C2CD3	26005	genome.wustl.edu	37	11	73872592	73872592	+	Missense_Mutation	SNP	A	A	C	rs201218954		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:73872592A>C	ENST00000334126.7	-	3	561	c.335T>G	c.(334-336)gTg>gGg	p.V112G	C2CD3_ENST00000539061.1_Missense_Mutation_p.V112G|C2CD3_ENST00000313663.7_Missense_Mutation_p.V112G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	112					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CAGCACCAGCACAGCCATATC	0.378																																						dbGAP											0													122.0	120.0	121.0					11																	73872592		2200	4293	6493	-	-	-	SO:0001583	missense	0			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.335T>G	11.37:g.73872592A>C	ENSP00000334379:p.Val112Gly		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.V112G	ENST00000334126.7	37	c.335		11	.	.	.	.	.	.	.	.	.	.	A	14.59	2.580550	0.46006	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681;ENST00000289350;ENST00000539061;ENST00000535954	T;T;T;T	0.78126	-1.15;-1.15;-1.15;-1.15	5.81	5.81	0.92471	.	0.484707	0.21901	N	0.067460	D	0.83252	0.5214	L	0.51422	1.61	0.48696	D	0.999695	D;D	0.76494	0.999;0.999	D;D	0.71184	0.925;0.972	D	0.84211	0.0456	10	0.72032	D	0.01	-9.5236	10.1289	0.42667	0.9222:0.0:0.0778:0.0	.	112;112	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	G	112;112;112;112;112;154	ENSP00000334379:V112G;ENSP00000323339:V112G;ENSP00000445933:V112G;ENSP00000439343:V154G	ENSP00000289350:V112G	V	-	2	0	C2CD3	73550240	0.998000	0.40836	1.000000	0.80357	0.997000	0.91878	3.185000	0.50934	2.218000	0.71995	0.528000	0.53228	GTG	C2CD3	-	NULL	ENSG00000168014		0.378	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		159	0.00	0	A	NM_015531		73872592	73872592	-1	no_errors	ENST00000334126	ensembl	human	known	69_37n	missense	101	38.18	63	SNP	0.991	C
BIRC3	330	genome.wustl.edu	37	11	102206880	102206880	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr11:102206880G>A	ENST00000263464.3	+	7	4258	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	BIRC3_ENST00000532808.1_Missense_Mutation_p.G503E	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	503	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTAGTAAAAGGAAATATTGCA	0.323			T	MALT1	MALT																																	dbGAP		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													96.0	103.0	101.0					11																	102206880		2203	4299	6502	-	-	-	SO:0001583	missense	0			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1508G>A	11.37:g.102206880G>A	ENSP00000263464:p.Gly503Glu		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.G503E	ENST00000263464.3	37	c.1508	CCDS8315.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497965	0.85069	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.54866	0.55;0.55	5.28	5.28	0.74379	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78285	-0.2263	10	0.34782	T	0.22	.	19.1181	0.93350	0.0:0.0:1.0:0.0	.	503	Q13489	BIRC3_HUMAN	E	503;503;271	ENSP00000263464:G503E;ENSP00000432907:G503E	ENSP00000263464:G503E	G	+	2	0	BIRC3	101712090	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.572000	0.82409	2.756000	0.94617	0.655000	0.94253	GGA	BIRC3	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	ENSG00000023445		0.323	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	HGNC	protein_coding	OTTHUMT00000394159.1	132	0.00	0	G	NM_001165		102206880	102206880	+1	no_errors	ENST00000263464	ensembl	human	known	69_37n	missense	68	17.86	15	SNP	1.000	A
BIRC3	330	genome.wustl.edu	37	11	102206880	102206880	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:102206880G>A	ENST00000263464.3	+	7	4258	c.1508G>A	c.(1507-1509)gGa>gAa	p.G503E	BIRC3_ENST00000532808.1_Missense_Mutation_p.G503E	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	503	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of necroptotic process (GO:0060546)|negative regulation of phosphorylation (GO:0042326)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|protein heterooligomerization (GO:0051291)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cysteine-type endopeptidase activity (GO:2000116)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of necroptotic process (GO:0060544)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|regulation of RIG-I signaling pathway (GO:0039535)|regulation of toll-like receptor signaling pathway (GO:0034121)|spermatogenesis (GO:0007283)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane raft (GO:0045121)|nucleus (GO:0005634)|protein complex (GO:0043234)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TTAGTAAAAGGAAATATTGCA	0.323			T	MALT1	MALT																																	dbGAP		Dom	yes		11	11q22-q23	330	baculoviral IAP repeat-containing 3		L	0													96.0	103.0	101.0					11																	102206880		2203	4299	6502	-	-	-	SO:0001583	missense	0			L49432	CCDS8315.1	11q22	2011-01-25	2011-01-25			ENSG00000023445		"""Baculoviral IAP repeat containing"", ""RING-type (C3HC4) zinc fingers"""	591	protein-coding gene	gene with protein product	"""apoptosis inhibitor 2"", ""TNFR2-TRAF signaling complex protein"", ""mammalian IAP homolog C"", ""inhibitor of apoptosis protein 1"""	601721	"""baculoviral IAP repeat-containing 3"""	API2		8552191, 8548810	Standard	NM_001165		Approved	cIAP2, hiap-1, MIHC, RNF49, MALT2, c-IAP2	uc001pgx.3	Q13489		ENST00000263464.3:c.1508G>A	11.37:g.102206880G>A	ENSP00000263464:p.Gly503Glu		Q16628|Q9HC27|Q9UP46	Missense_Mutation	SNP	pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING	p.G503E	ENST00000263464.3	37	c.1508	CCDS8315.1	11	.	.	.	.	.	.	.	.	.	.	G	24.1	4.497965	0.85069	.	.	ENSG00000023445	ENST00000263464;ENST00000532808;ENST00000532609	T;T	0.54866	0.55;0.55	5.28	5.28	0.74379	DEATH-like (2);Caspase Recruitment (3);	0.000000	0.85682	D	0.000000	T	0.78097	0.4230	M	0.90814	3.15	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78285	-0.2263	10	0.34782	T	0.22	.	19.1181	0.93350	0.0:0.0:1.0:0.0	.	503	Q13489	BIRC3_HUMAN	E	503;503;271	ENSP00000263464:G503E;ENSP00000432907:G503E	ENSP00000263464:G503E	G	+	2	0	BIRC3	101712090	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.572000	0.82409	2.756000	0.94617	0.655000	0.94253	GGA	BIRC3	-	pfam_CARD,superfamily_DEATH-like,smart_CARD,pfscan_CARD	ENSG00000023445		0.323	BIRC3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BIRC3	HGNC	protein_coding	OTTHUMT00000394159.1	105	0.00	0	G	NM_001165		102206880	102206880	+1	no_errors	ENST00000263464	ensembl	human	known	69_37n	missense	68	17.86	15	SNP	1.000	A
CASKIN1	57524	genome.wustl.edu	37	16	2231353	2231353	+	Silent	SNP	C	C	G	rs372558539		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr16:2231353C>G	ENST00000343516.6	-	18	2108	c.2016G>C	c.(2014-2016)ggG>ggC	p.G672G	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	672					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CAGTGGTGGGCCCCACCTCAG	0.682																																						dbGAP											0													10.0	17.0	15.0					16																	2231353		1993	4143	6136	-	-	-	SO:0001819	synonymous_variant	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2016G>C	16.37:g.2231353C>G			Q9P2P0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SAM,pfscan_SAM	p.G356A	ENST00000343516.6	37	c.1067	CCDS42103.1	16																																																																																			CASKIN1	-	NULL	ENSG00000167971		0.682	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	18	0.00	0	C	NM_020764		2231353	2231353	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562899	ensembl	human	putative	69_37n	missense	32	39.62	21	SNP	0.000	G
CASKIN1	57524	genome.wustl.edu	37	16	2231353	2231353	+	Silent	SNP	C	C	G	rs372558539		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr16:2231353C>G	ENST00000343516.6	-	18	2108	c.2016G>C	c.(2014-2016)ggG>ggC	p.G672G	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	672					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CAGTGGTGGGCCCCACCTCAG	0.682																																						dbGAP											0													10.0	17.0	15.0					16																	2231353		1993	4143	6136	-	-	-	SO:0001819	synonymous_variant	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.2016G>C	16.37:g.2231353C>G			Q9P2P0	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SAM,pfscan_SAM	p.G356A	ENST00000343516.6	37	c.1067	CCDS42103.1	16																																																																																			CASKIN1	-	NULL	ENSG00000167971		0.682	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	26	0.00	0	C	NM_020764		2231353	2231353	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000562899	ensembl	human	putative	69_37n	missense	32	39.62	21	SNP	0.000	G
CCDC141	285025	genome.wustl.edu	37	2	179742756	179742756	+	Missense_Mutation	SNP	G	G	C	rs201359800		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:179742756G>C	ENST00000409284.1	-	12	1951	c.1834C>G	c.(1834-1836)Cta>Gta	p.L612V	CCDC141_ENST00000295723.5_Missense_Mutation_p.L37V|CCDC141_ENST00000420890.2_Missense_Mutation_p.L612V			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	612										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTTAAAAATAGCTGCCACTGC	0.378																																						dbGAP											0													85.0	88.0	87.0					2																	179742756		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1834C>G	2.37:g.179742756G>C	ENSP00000386503:p.Leu612Val		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L612V	ENST00000409284.1	37	c.1834		2	.	.	.	.	.	.	.	.	.	.	G	8.842	0.942539	0.18281	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758;ENST00000446116;ENST00000409284	T;T;T;T	0.46451	0.87;1.45;1.44;1.48	5.32	4.32	0.51571	.	0.390200	0.18710	N	0.133337	T	0.23766	0.0575	L	0.29908	0.895	0.25958	N	0.982662	B;P	0.40909	0.451;0.732	B;B	0.37888	0.07;0.26	T	0.07868	-1.0750	10	0.15499	T	0.54	-6.2366	3.6881	0.08336	0.1441:0.0:0.6111:0.2448	.	612;37	B8ZZB3;Q6ZP82	.;CC141_HUMAN	V	612;56;37;612;547;612	ENSP00000395995:L612V;ENSP00000344627:L56V;ENSP00000295723:L37V;ENSP00000390190:L612V	ENSP00000295723:L37V	L	-	1	2	CCDC141	179451001	0.966000	0.33281	1.000000	0.80357	0.459000	0.32528	0.305000	0.19254	2.471000	0.83476	0.585000	0.79938	CTA	CCDC141	-	NULL	ENSG00000163492		0.378	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	HGNC	protein_coding	OTTHUMT00000335873.1	151	0.00	0	G	NM_173648		179742756	179742756	-1	no_errors	ENST00000420890	ensembl	human	known	69_37n	missense	116	26.42	42	SNP	1.000	C
CCDC155	147872	genome.wustl.edu	37	19	49913081	49913081	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr19:49913081T>G	ENST00000447857.3	+	15	1423	c.1218T>G	c.(1216-1218)caT>caG	p.H406Q		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	406						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAGTCATCCATGAGACCAGTG	0.557																																						dbGAP											0													84.0	90.0	88.0					19																	49913081		1960	4150	6110	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1218T>G	19.37:g.49913081T>G	ENSP00000404220:p.His406Gln		Q96MC3	Missense_Mutation	SNP	NULL	p.H406Q	ENST00000447857.3	37	c.1218	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	T	2.666	-0.278608	0.05679	.	.	ENSG00000161609	ENST00000447857	T	0.28666	1.6	3.56	-7.13	0.01532	.	1.633250	0.03221	N	0.177514	T	0.17789	0.0427	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.16808	-1.0390	10	0.13470	T	0.59	-5.1537	3.5691	0.07910	0.1249:0.1839:0.5015:0.1897	.	406;406	C9JGW3;Q8N6L0	.;CC155_HUMAN	Q	406	ENSP00000404220:H406Q	ENSP00000404220:H406Q	H	+	3	2	CCDC155	54604893	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.546000	0.02188	-1.905000	0.01090	0.386000	0.25728	CAT	CCDC155	-	NULL	ENSG00000161609		0.557	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	106	0.00	0	T	NM_144688		49913081	49913081	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	33	80.12	133	SNP	0.000	G
CCDC155	147872	genome.wustl.edu	37	19	49913081	49913081	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr19:49913081T>G	ENST00000447857.3	+	15	1423	c.1218T>G	c.(1216-1218)caT>caG	p.H406Q		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	406						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAGTCATCCATGAGACCAGTG	0.557																																						dbGAP											0													84.0	90.0	88.0					19																	49913081		1960	4150	6110	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1218T>G	19.37:g.49913081T>G	ENSP00000404220:p.His406Gln		Q96MC3	Missense_Mutation	SNP	NULL	p.H406Q	ENST00000447857.3	37	c.1218	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	T	2.666	-0.278608	0.05679	.	.	ENSG00000161609	ENST00000447857	T	0.28666	1.6	3.56	-7.13	0.01532	.	1.633250	0.03221	N	0.177514	T	0.17789	0.0427	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.16808	-1.0390	10	0.13470	T	0.59	-5.1537	3.5691	0.07910	0.1249:0.1839:0.5015:0.1897	.	406;406	C9JGW3;Q8N6L0	.;CC155_HUMAN	Q	406	ENSP00000404220:H406Q	ENSP00000404220:H406Q	H	+	3	2	CCDC155	54604893	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.546000	0.02188	-1.905000	0.01090	0.386000	0.25728	CAT	CCDC155	-	NULL	ENSG00000161609		0.557	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	46	0.00	0	T	NM_144688		49913081	49913081	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	7	82.05	32	SNP	0.000	G
CCDC155	147872	genome.wustl.edu	37	19	49913081	49913081	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr19:49913081T>G	ENST00000447857.3	+	15	1423	c.1218T>G	c.(1216-1218)caT>caG	p.H406Q		NM_144688.4	NP_653289.3	Q8N6L0	KASH5_HUMAN	coiled-coil domain containing 155	406						chromosome, telomeric region (GO:0000781)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						AAGTCATCCATGAGACCAGTG	0.557																																						dbGAP											0													84.0	90.0	88.0					19																	49913081		1960	4150	6110	-	-	-	SO:0001583	missense	0				CCDS46140.1	19q13.33	2014-01-21			ENSG00000161609	ENSG00000161609			26520	protein-coding gene	gene with protein product							Standard	NM_144688		Approved	FLJ32658, KASH5	uc002pnm.2	Q8N6L0	OTTHUMG00000183170	ENST00000447857.3:c.1218T>G	19.37:g.49913081T>G	ENSP00000404220:p.His406Gln		Q96MC3	Missense_Mutation	SNP	NULL	p.H406Q	ENST00000447857.3	37	c.1218	CCDS46140.1	19	.	.	.	.	.	.	.	.	.	.	T	2.666	-0.278608	0.05679	.	.	ENSG00000161609	ENST00000447857	T	0.28666	1.6	3.56	-7.13	0.01532	.	1.633250	0.03221	N	0.177514	T	0.17789	0.0427	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.16808	-1.0390	10	0.13470	T	0.59	-5.1537	3.5691	0.07910	0.1249:0.1839:0.5015:0.1897	.	406;406	C9JGW3;Q8N6L0	.;CC155_HUMAN	Q	406	ENSP00000404220:H406Q	ENSP00000404220:H406Q	H	+	3	2	CCDC155	54604893	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-1.546000	0.02188	-1.905000	0.01090	0.386000	0.25728	CAT	CCDC155	-	NULL	ENSG00000161609		0.557	CCDC155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC155	HGNC	protein_coding	OTTHUMT00000465436.2	157	0.00	0	T	NM_144688		49913081	49913081	+1	no_errors	ENST00000447857	ensembl	human	known	69_37n	missense	33	80.12	133	SNP	0.000	G
CCDC60	160777	genome.wustl.edu	37	12	119866494	119866494	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:119866494G>A	ENST00000327554.2	+	2	562	c.97G>A	c.(97-99)Gac>Aac	p.D33N	RP11-768F21.1_ENST00000509470.2_lincRNA|CCDC60_ENST00000546345.1_3'UTR|CCDC60_ENST00000536742.1_Missense_Mutation_p.D33N|CCDC60_ENST00000539847.1_Missense_Mutation_p.D33N	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	33										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCAGGTCCCAGACAAGCCAAT	0.438																																						dbGAP											0													60.0	55.0	57.0					12																	119866494		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.97G>A	12.37:g.119866494G>A	ENSP00000333374:p.Asp33Asn			Missense_Mutation	SNP	NULL	p.D33N	ENST00000327554.2	37	c.97	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	10.85	1.468059	0.26335	.	.	ENSG00000183273	ENST00000536742;ENST00000327554;ENST00000539847	T;T;T	0.65916	0.14;1.84;-0.18	4.54	4.54	0.55810	.	0.801532	0.10981	N	0.612711	T	0.57946	0.2088	L	0.36672	1.1	0.09310	N	1	P	0.40534	0.72	B	0.43728	0.429	T	0.48969	-0.8987	9	.	.	.	-8.1793	13.0949	0.59187	0.0:0.0:1.0:0.0	.	33	Q8IWA6	CCD60_HUMAN	N	33	ENSP00000445505:D33N;ENSP00000333374:D33N;ENSP00000443403:D33N	.	D	+	1	0	CCDC60	118350877	0.346000	0.24844	0.043000	0.18650	0.131000	0.20780	2.367000	0.44213	2.814000	0.96858	0.655000	0.94253	GAC	CCDC60	-	NULL	ENSG00000183273		0.438	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	194	0.00	0	G	NM_178499		119866494	119866494	+1	no_errors	ENST00000327554	ensembl	human	known	69_37n	missense	169	22.83	50	SNP	0.046	A
CCNJL	79616	genome.wustl.edu	37	5	159679911	159679911	+	3'UTR	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr5:159679911G>C	ENST00000393977.3	-	0	2067				CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like							nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCTGCATAGAGCCAGGGAA	0.537																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.*474C>G	5.37:g.159679911G>C			Q6ZN43|Q9H7W8	RNA	SNP	-	NULL	ENST00000393977.3	37	NULL	CCDS4350.2	5																																																																																			CCNJL	-	-	ENSG00000135083		0.537	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	38	0.00	0	G	NM_024565		159679911	159679911	-1	no_errors	ENST00000377503	ensembl	human	known	69_37n	rna	9	70.97	22	SNP	0.004	C
CD72	971	genome.wustl.edu	37	9	35616245	35616245	+	Missense_Mutation	SNP	G	G	A	rs147607530	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr9:35616245G>A	ENST00000396757.1	-	6	547	c.383C>T	c.(382-384)aCg>aTg	p.T128M	CD72_ENST00000259633.4_Missense_Mutation_p.T128M|CD72_ENST00000378431.1_3'UTR|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	128					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCTGTTCGTCTGCTGGAG	0.577																																						dbGAP											0													27.0	26.0	26.0					9																	35616245		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.383C>T	9.37:g.35616245G>A	ENSP00000379980:p.Thr128Met			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T128M	ENST00000396757.1	37	c.383	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034343	0.19590	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.61742	0.08;0.08	5.14	-6.05	0.02172	.	1.588320	0.03424	N	0.206753	T	0.33527	0.0866	N	0.04203	-0.255	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.26326	-1.0106	10	0.38643	T	0.18	-0.0022	11.1083	0.48216	0.1664:0.1272:0.7064:0.0	.	128;128	Q5TLG3;P21854	.;CD72_HUMAN	M	128	ENSP00000379980:T128M;ENSP00000259633:T128M	ENSP00000259633:T128M	T	-	2	0	CD72	35606245	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-1.721000	0.01870	-1.025000	0.03334	-0.458000	0.05436	ACG	CD72	-	NULL	ENSG00000137101		0.577	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	15	0.00	0	G	NM_001782		35616245	35616245	-1	no_errors	ENST00000259633	ensembl	human	known	69_37n	missense	81	38.17	50	SNP	0.000	A
CD72	971	genome.wustl.edu	37	9	35616245	35616245	+	Missense_Mutation	SNP	G	G	A	rs147607530	byFrequency	TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr9:35616245G>A	ENST00000396757.1	-	6	547	c.383C>T	c.(382-384)aCg>aTg	p.T128M	CD72_ENST00000259633.4_Missense_Mutation_p.T128M|CD72_ENST00000378431.1_3'UTR|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	128					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCTGTTCGTCTGCTGGAG	0.577																																						dbGAP											0													27.0	26.0	26.0					9																	35616245		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.383C>T	9.37:g.35616245G>A	ENSP00000379980:p.Thr128Met			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T128M	ENST00000396757.1	37	c.383	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034343	0.19590	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.61742	0.08;0.08	5.14	-6.05	0.02172	.	1.588320	0.03424	N	0.206753	T	0.33527	0.0866	N	0.04203	-0.255	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.26326	-1.0106	10	0.38643	T	0.18	-0.0022	11.1083	0.48216	0.1664:0.1272:0.7064:0.0	.	128;128	Q5TLG3;P21854	.;CD72_HUMAN	M	128	ENSP00000379980:T128M;ENSP00000259633:T128M	ENSP00000259633:T128M	T	-	2	0	CD72	35606245	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-1.721000	0.01870	-1.025000	0.03334	-0.458000	0.05436	ACG	CD72	-	NULL	ENSG00000137101		0.577	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	22	0.00	0	G	NM_001782		35616245	35616245	-1	no_errors	ENST00000259633	ensembl	human	known	69_37n	missense	37	26.00	13	SNP	0.000	A
CD72	971	genome.wustl.edu	37	9	35616245	35616245	+	Missense_Mutation	SNP	G	G	A	rs147607530	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr9:35616245G>A	ENST00000396757.1	-	6	547	c.383C>T	c.(382-384)aCg>aTg	p.T128M	CD72_ENST00000259633.4_Missense_Mutation_p.T128M|CD72_ENST00000378431.1_3'UTR|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	128					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AACCCTGTTCGTCTGCTGGAG	0.577																																						dbGAP											0													27.0	26.0	26.0					9																	35616245		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.383C>T	9.37:g.35616245G>A	ENSP00000379980:p.Thr128Met			Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.T128M	ENST00000396757.1	37	c.383	CCDS6581.1	9	.	.	.	.	.	.	.	.	.	.	G	9.225	1.034343	0.19590	.	.	ENSG00000137101	ENST00000396757;ENST00000396759;ENST00000259633	T;T	0.61742	0.08;0.08	5.14	-6.05	0.02172	.	1.588320	0.03424	N	0.206753	T	0.33527	0.0866	N	0.04203	-0.255	0.09310	N	1	B;B	0.11235	0.004;0.004	B;B	0.09377	0.004;0.004	T	0.26326	-1.0106	10	0.38643	T	0.18	-0.0022	11.1083	0.48216	0.1664:0.1272:0.7064:0.0	.	128;128	Q5TLG3;P21854	.;CD72_HUMAN	M	128	ENSP00000379980:T128M;ENSP00000259633:T128M	ENSP00000259633:T128M	T	-	2	0	CD72	35606245	0.000000	0.05858	0.000000	0.03702	0.633000	0.38033	-1.721000	0.01870	-1.025000	0.03334	-0.458000	0.05436	ACG	CD72	-	NULL	ENSG00000137101		0.577	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	23	0.00	0	G	NM_001782		35616245	35616245	-1	no_errors	ENST00000259633	ensembl	human	known	69_37n	missense	81	38.17	50	SNP	0.000	A
CDH9	1007	genome.wustl.edu	37	5	26881404	26881404	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr5:26881404C>T	ENST00000231021.4	-	12	2383	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGGCATACGTTGCCAGCG	0.423																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													141.0	132.0	135.0					5																	26881404		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2211G>A	5.37:g.26881404C>T			Q3B7I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T737	ENST00000231021.4	37	c.2211	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	203	0.00	0	C	NM_016279		26881404	26881404	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	silent	311	43.45	239	SNP	0.000	T
CDH9	1007	genome.wustl.edu	37	5	26881404	26881404	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr5:26881404C>T	ENST00000231021.4	-	12	2383	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGGCATACGTTGCCAGCG	0.423																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													141.0	132.0	135.0					5																	26881404		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2211G>A	5.37:g.26881404C>T			Q3B7I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T737	ENST00000231021.4	37	c.2211	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	47	0.00	0	C	NM_016279		26881404	26881404	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	silent	25	39.02	16	SNP	0.000	T
CDH9	1007	genome.wustl.edu	37	5	26881404	26881404	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:26881404C>T	ENST00000231021.4	-	12	2383	c.2211G>A	c.(2209-2211)acG>acA	p.T737T		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	737					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGGCATACGTTGCCAGCG	0.423																																					Melanoma(8;187 585 15745 40864 52829)	dbGAP											0													141.0	132.0	135.0					5																	26881404		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AB035302	CCDS3893.1	5p14	2010-01-26			ENSG00000113100	ENSG00000113100		"""Cadherins / Major cadherins"""	1768	protein-coding gene	gene with protein product		609974				2059658	Standard	NM_016279		Approved		uc003jgs.1	Q9ULB4	OTTHUMG00000090671	ENST00000231021.4:c.2211G>A	5.37:g.26881404C>T			Q3B7I5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T737	ENST00000231021.4	37	c.2211	CCDS3893.1	5																																																																																			CDH9	-	pfam_Cadherin_cytoplasmic-dom	ENSG00000113100		0.423	CDH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH9	HGNC	protein_coding	OTTHUMT00000207352.1	216	0.00	0	C	NM_016279		26881404	26881404	-1	no_errors	ENST00000231021	ensembl	human	known	69_37n	silent	311	43.45	239	SNP	0.000	T
CDHR4	389118	genome.wustl.edu	37	3	49829169	49829169	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr3:49829169G>A	ENST00000412678.2	-	17	2269	c.2261C>T	c.(2260-2262)gCa>gTa	p.A754V	CDHR4_ENST00000462108.1_5'UTR	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACTGCTGGGTGCCTGGGACAT	0.557																																						dbGAP											0													121.0	114.0	116.0					3																	49829169		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.2261C>T	3.37:g.49829169G>A	ENSP00000391409:p.Ala754Val		Q6UXT0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A754V	ENST00000412678.2	37	c.2261	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174733	0.09391	.	.	ENSG00000187492	ENST00000412678	T	0.55588	0.51	4.5	-4.85	0.03142	.	.	.	.	.	T	0.27205	0.0667	N	0.22421	0.69	0.21355	N	0.999711	B	0.09022	0.002	B	0.09377	0.004	T	0.16041	-1.0416	9	0.28530	T	0.3	.	0.1506	0.00092	0.3134:0.2334:0.2158:0.2373	.	754	A6H8M9	CDHR4_HUMAN	V	754	ENSP00000391409:A754V	ENSP00000391409:A754V	A	-	2	0	CDHR4	49804173	0.301000	0.24444	0.005000	0.12908	0.006000	0.05464	-0.307000	0.08167	-1.100000	0.03030	-0.133000	0.14855	GCA	CDHR4	-	NULL	ENSG00000187492		0.557	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	94	0.00	0	G	NM_001007540		49829169	49829169	-1	no_errors	ENST00000412678	ensembl	human	known	69_37n	missense	170	27.04	63	SNP	0.006	A
CDHR4	389118	genome.wustl.edu	37	3	49829169	49829169	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr3:49829169G>A	ENST00000412678.2	-	17	2269	c.2261C>T	c.(2260-2262)gCa>gTa	p.A754V	CDHR4_ENST00000462108.1_5'UTR	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACTGCTGGGTGCCTGGGACAT	0.557																																						dbGAP											0													121.0	114.0	116.0					3																	49829169		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.2261C>T	3.37:g.49829169G>A	ENSP00000391409:p.Ala754Val		Q6UXT0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A754V	ENST00000412678.2	37	c.2261	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174733	0.09391	.	.	ENSG00000187492	ENST00000412678	T	0.55588	0.51	4.5	-4.85	0.03142	.	.	.	.	.	T	0.27205	0.0667	N	0.22421	0.69	0.21355	N	0.999711	B	0.09022	0.002	B	0.09377	0.004	T	0.16041	-1.0416	9	0.28530	T	0.3	.	0.1506	0.00092	0.3134:0.2334:0.2158:0.2373	.	754	A6H8M9	CDHR4_HUMAN	V	754	ENSP00000391409:A754V	ENSP00000391409:A754V	A	-	2	0	CDHR4	49804173	0.301000	0.24444	0.005000	0.12908	0.006000	0.05464	-0.307000	0.08167	-1.100000	0.03030	-0.133000	0.14855	GCA	CDHR4	-	NULL	ENSG00000187492		0.557	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	91	0.00	0	G	NM_001007540		49829169	49829169	-1	no_errors	ENST00000412678	ensembl	human	known	69_37n	missense	52	21.21	14	SNP	0.006	A
CDHR4	389118	genome.wustl.edu	37	3	49829169	49829169	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:49829169G>A	ENST00000412678.2	-	17	2269	c.2261C>T	c.(2260-2262)gCa>gTa	p.A754V	CDHR4_ENST00000462108.1_5'UTR	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	754					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACTGCTGGGTGCCTGGGACAT	0.557																																						dbGAP											0													121.0	114.0	116.0					3																	49829169		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.2261C>T	3.37:g.49829169G>A	ENSP00000391409:p.Ala754Val		Q6UXT0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.A754V	ENST00000412678.2	37	c.2261	CCDS46829.1	3	.	.	.	.	.	.	.	.	.	.	G	4.940	0.174733	0.09391	.	.	ENSG00000187492	ENST00000412678	T	0.55588	0.51	4.5	-4.85	0.03142	.	.	.	.	.	T	0.27205	0.0667	N	0.22421	0.69	0.21355	N	0.999711	B	0.09022	0.002	B	0.09377	0.004	T	0.16041	-1.0416	9	0.28530	T	0.3	.	0.1506	0.00092	0.3134:0.2334:0.2158:0.2373	.	754	A6H8M9	CDHR4_HUMAN	V	754	ENSP00000391409:A754V	ENSP00000391409:A754V	A	-	2	0	CDHR4	49804173	0.301000	0.24444	0.005000	0.12908	0.006000	0.05464	-0.307000	0.08167	-1.100000	0.03030	-0.133000	0.14855	GCA	CDHR4	-	NULL	ENSG00000187492		0.557	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	109	0.00	0	G	NM_001007540		49829169	49829169	-1	no_errors	ENST00000412678	ensembl	human	known	69_37n	missense	170	27.04	63	SNP	0.006	A
CDK19	23097	genome.wustl.edu	37	6	111136364	111136364	+	5'UTR	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:111136364G>C	ENST00000368911.3	-	0	155				CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATAGAGGCACGGGACGCGGGG	0.687																																						dbGAP											0													34.0	37.0	36.0					6																	111136364		2202	4300	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.-25C>G	6.37:g.111136364G>C			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	RNA	SNP	-	NULL	ENST00000368911.3	37	NULL	CCDS5085.1	6																																																																																			CDK19	-	-	ENSG00000155111		0.687	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	40	0.00	0	G	NM_015076		111136364	111136364	-1	no_errors	ENST00000460913	ensembl	human	known	69_37n	rna	92	19.30	22	SNP	1.000	C
CDK19	23097	genome.wustl.edu	37	6	111136364	111136364	+	5'UTR	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr6:111136364G>C	ENST00000368911.3	-	0	155				CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATAGAGGCACGGGACGCGGGG	0.687																																						dbGAP											0													34.0	37.0	36.0					6																	111136364		2202	4300	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.-25C>G	6.37:g.111136364G>C			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	RNA	SNP	-	NULL	ENST00000368911.3	37	NULL	CCDS5085.1	6																																																																																			CDK19	-	-	ENSG00000155111		0.687	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	81	0.00	0	G	NM_015076		111136364	111136364	-1	no_errors	ENST00000460913	ensembl	human	known	69_37n	rna	48	23.81	15	SNP	1.000	C
CDK19	23097	genome.wustl.edu	37	6	111136364	111136364	+	5'UTR	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr6:111136364G>C	ENST00000368911.3	-	0	155				CDK19_ENST00000497709.1_Intron|CDK19_ENST00000323817.3_Intron	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATAGAGGCACGGGACGCGGGG	0.687																																						dbGAP											0													34.0	37.0	36.0					6																	111136364		2202	4300	6502	-	-	-	SO:0001623	5_prime_UTR_variant	0			AL122055	CCDS5085.1, CCDS75503.1	6q21	2011-10-25	2009-12-16	2009-12-16	ENSG00000155111	ENSG00000155111		"""Cyclin-dependent kinases"""	19338	protein-coding gene	gene with protein product		614720	"""cyclin-dependent kinase (CDC2-like) 11"", ""cell division cycle 2-like 6 (CDK8-like)"""	CDK11, CDC2L6		10470851, 19884882	Standard	XM_005266871		Approved	KIAA1028, bA346C16.3	uc003puh.1	Q9BWU1	OTTHUMG00000015365	ENST00000368911.3:c.-25C>G	6.37:g.111136364G>C			Q5JQZ7|Q5JR00|Q8TC78|Q9UPX2	RNA	SNP	-	NULL	ENST00000368911.3	37	NULL	CCDS5085.1	6																																																																																			CDK19	-	-	ENSG00000155111		0.687	CDK19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK19	HGNC	protein_coding	OTTHUMT00000041804.1	62	0.00	0	G	NM_015076		111136364	111136364	-1	no_errors	ENST00000460913	ensembl	human	known	69_37n	rna	92	19.30	22	SNP	1.000	C
CENPI	2491	genome.wustl.edu	37	X	100395700	100395700	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:100395700T>G	ENST00000372927.1	+	15	1793	c.1516T>G	c.(1516-1518)Ttg>Gtg	p.L506V	CENPI_ENST00000423383.1_Missense_Mutation_p.L506V|CENPI_ENST00000218507.5_Missense_Mutation_p.L506V|CENPI_ENST00000372926.1_Missense_Mutation_p.L506V	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	506					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GAATTGGCTGTTGTGGCTTTC	0.393																																						dbGAP											0													214.0	197.0	203.0					X																	100395700		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1516T>G	X.37:g.100395700T>G	ENSP00000362018:p.Leu506Val		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.L506V	ENST00000372927.1	37	c.1516	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	t	13.51	2.257837	0.39896	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.48	-2.99	0.05497	.	0.360282	0.26715	N	0.022862	T	0.28034	0.0691	L	0.59436	1.845	0.26345	N	0.977299	B;B	0.32526	0.374;0.374	B;B	0.35039	0.194;0.194	T	0.39165	-0.9627	9	0.10377	T	0.69	-6.21	4.2001	0.10462	0.1413:0.4492:0.0996:0.3099	.	506;506	B4DZL4;Q92674	.;CENPI_HUMAN	V	506	.	ENSP00000218507:L506V	L	+	1	2	CENPI	100282356	0.839000	0.29477	0.954000	0.39281	0.985000	0.73830	-0.411000	0.07142	-0.942000	0.03695	0.486000	0.48141	TTG	CENPI	-	pfam_Centromere_CenpI	ENSG00000102384		0.393	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	440	0.45	2	T	NM_006733		100395700	100395700	+1	no_errors	ENST00000372927	ensembl	human	known	69_37n	missense	276	19.71	68	SNP	0.901	G
CENPI	2491	genome.wustl.edu	37	X	100395700	100395700	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:100395700T>G	ENST00000372927.1	+	15	1793	c.1516T>G	c.(1516-1518)Ttg>Gtg	p.L506V	CENPI_ENST00000423383.1_Missense_Mutation_p.L506V|CENPI_ENST00000218507.5_Missense_Mutation_p.L506V|CENPI_ENST00000372926.1_Missense_Mutation_p.L506V	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	506					CENP-A containing nucleosome assembly (GO:0034080)|mitotic cell cycle (GO:0000278)|nucleosome assembly (GO:0006334)|sex differentiation (GO:0007548)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						GAATTGGCTGTTGTGGCTTTC	0.393																																						dbGAP											0													214.0	197.0	203.0					X																	100395700		2203	4300	6503	-	-	-	SO:0001583	missense	0			X97249	CCDS14479.1	Xq22.1	2013-11-05	2006-06-15	2006-06-15	ENSG00000102384	ENSG00000102384			3968	protein-coding gene	gene with protein product		300065	"""FSH primary response (LRPR1, rat) homolog 1"", ""FSH primary response (LRPR1 homolog, rat) 1"""	FSHPRH1		16622420	Standard	NM_006733		Approved	LRPR1, CENP-I, Mis6	uc004egx.3	Q92674	OTTHUMG00000022018	ENST00000372927.1:c.1516T>G	X.37:g.100395700T>G	ENSP00000362018:p.Leu506Val		Q5JWZ9|Q96ED0	Missense_Mutation	SNP	pfam_Centromere_CenpI	p.L506V	ENST00000372927.1	37	c.1516	CCDS14479.1	X	.	.	.	.	.	.	.	.	.	.	t	13.51	2.257837	0.39896	.	.	ENSG00000102384	ENST00000423383;ENST00000218507;ENST00000372926;ENST00000372927	.	.	.	5.48	-2.99	0.05497	.	0.360282	0.26715	N	0.022862	T	0.28034	0.0691	L	0.59436	1.845	0.26345	N	0.977299	B;B	0.32526	0.374;0.374	B;B	0.35039	0.194;0.194	T	0.39165	-0.9627	9	0.10377	T	0.69	-6.21	4.2001	0.10462	0.1413:0.4492:0.0996:0.3099	.	506;506	B4DZL4;Q92674	.;CENPI_HUMAN	V	506	.	ENSP00000218507:L506V	L	+	1	2	CENPI	100282356	0.839000	0.29477	0.954000	0.39281	0.985000	0.73830	-0.411000	0.07142	-0.942000	0.03695	0.486000	0.48141	TTG	CENPI	-	pfam_Centromere_CenpI	ENSG00000102384		0.393	CENPI-004	KNOWN	basic|CCDS	protein_coding	CENPI	HGNC	protein_coding	OTTHUMT00000057519.1	434	0.46	2	T	NM_006733		100395700	100395700	+1	no_errors	ENST00000372927	ensembl	human	known	69_37n	missense	276	19.71	68	SNP	0.901	G
CNKSR2	22866	genome.wustl.edu	37	X	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:21450738_21450739insT	ENST00000379510.3	+	3	273_274	c.237_238insT	c.(238-240)ttgfs	p.L80fs	CNKSR2_ENST00000279451.4_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000425654.2_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000543067.1_Frame_Shift_Ins_p.L80fs	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	80					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.239dupT	X.37:g.21450740_21450740dupT	ENSP00000368824:p.Leu80fs		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Frame_Shift_Ins	INS	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.L79fs	ENST00000379510.3	37	c.237_238	CCDS14198.1	X																																																																																			CNKSR2	-	superfamily_SAM/pointed	ENSG00000149970		0.307	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	62	0.00	0	-	NM_014927		21450738	21450739	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:1.000	T
CNKSR2	22866	genome.wustl.edu	37	X	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:21450738_21450739insT	ENST00000379510.3	+	3	273_274	c.237_238insT	c.(238-240)ttgfs	p.L80fs	CNKSR2_ENST00000279451.4_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000425654.2_Frame_Shift_Ins_p.L80fs|CNKSR2_ENST00000543067.1_Frame_Shift_Ins_p.L80fs	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	80					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.239dupT	X.37:g.21450740_21450740dupT	ENSP00000368824:p.Leu80fs		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Frame_Shift_Ins	INS	pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM	p.L79fs	ENST00000379510.3	37	c.237_238	CCDS14198.1	X																																																																																			CNKSR2	-	superfamily_SAM/pointed	ENSG00000149970		0.307	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNKSR2	HGNC	protein_coding	OTTHUMT00000056019.1	93	0.00	0	-	NM_014927		21450738	21450739	+1	no_errors	ENST00000379510	ensembl	human	known	69_37n	frame_shift_ins	29	12.12	4	INS	1.000:1.000	T
CETN2	1069	genome.wustl.edu	37	X	151996400	151996400	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:151996400C>G	ENST00000370277.3	-	5	570	c.504G>C	c.(502-504)aaG>aaC	p.K168N	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGCTGGTCTTTTTCATGA	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													166.0	144.0	151.0					X																	151996400		2203	4300	6503	-	-	-	SO:0001583	missense	0			X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.504G>C	X.37:g.151996400C>G	ENSP00000359300:p.Lys168Asn		B2R4T4|Q53XW1	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K168N	ENST00000370277.3	37	c.504	CCDS14716.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045254	0.75846	.	.	ENSG00000147400	ENST00000370277	T	0.38887	1.11	5.91	5.04	0.67666	.	0.063249	0.64402	D	0.000010	T	0.58935	0.2157	L	0.58669	1.825	0.80722	D	1	D	0.58620	0.983	D	0.67382	0.951	T	0.61768	-0.6995	10	0.87932	D	0	.	13.0584	0.58994	0.1616:0.8384:0.0:0.0	.	168	P41208	CETN2_HUMAN	N	168	ENSP00000359300:K168N	ENSP00000359300:K168N	K	-	3	2	CETN2	151747056	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.796000	0.55507	1.227000	0.43598	0.600000	0.82982	AAG	CETN2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000147400		0.413	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN2	HGNC	protein_coding	OTTHUMT00000061197.1	263	0.38	1	C	NM_004344		151996400	151996400	-1	no_errors	ENST00000370277	ensembl	human	known	69_37n	missense	171	21.92	48	SNP	1.000	G
CETN2	1069	genome.wustl.edu	37	X	151996400	151996400	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:151996400C>G	ENST00000370277.3	-	5	570	c.504G>C	c.(502-504)aaG>aaC	p.K168N	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	168	EF-hand 4. {ECO:0000255|PROSITE- ProRule:PRU00448}.				centriole replication (GO:0007099)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)|regulation of cytokinesis (GO:0032465)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytosol (GO:0005829)|intracellular (GO:0005622)|photoreceptor connecting cilium (GO:0032391)|XPC complex (GO:0071942)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|calcium ion binding (GO:0005509)|nucleic acid binding (GO:0003676)			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGCTGGTCTTTTTCATGA	0.413								Direct reversal of damage;Nucleotide excision repair (NER)																														dbGAP											0													166.0	144.0	151.0					X																	151996400		2203	4300	6503	-	-	-	SO:0001583	missense	0			X72964	CCDS14716.1	Xq28	2013-01-10			ENSG00000147400	ENSG00000147400		"""EF-hand domain containing"""	1867	protein-coding gene	gene with protein product		300006		CALT		7713520, 8597638	Standard	NM_004344		Approved	CEN2	uc004fgq.3	P41208	OTTHUMG00000024246	ENST00000370277.3:c.504G>C	X.37:g.151996400C>G	ENSP00000359300:p.Lys168Asn		B2R4T4|Q53XW1	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K168N	ENST00000370277.3	37	c.504	CCDS14716.1	X	.	.	.	.	.	.	.	.	.	.	C	20.8	4.045254	0.75846	.	.	ENSG00000147400	ENST00000370277	T	0.38887	1.11	5.91	5.04	0.67666	.	0.063249	0.64402	D	0.000010	T	0.58935	0.2157	L	0.58669	1.825	0.80722	D	1	D	0.58620	0.983	D	0.67382	0.951	T	0.61768	-0.6995	10	0.87932	D	0	.	13.0584	0.58994	0.1616:0.8384:0.0:0.0	.	168	P41208	CETN2_HUMAN	N	168	ENSP00000359300:K168N	ENSP00000359300:K168N	K	-	3	2	CETN2	151747056	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.796000	0.55507	1.227000	0.43598	0.600000	0.82982	AAG	CETN2	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	ENSG00000147400		0.413	CETN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CETN2	HGNC	protein_coding	OTTHUMT00000061197.1	317	0.00	0	C	NM_004344		151996400	151996400	-1	no_errors	ENST00000370277	ensembl	human	known	69_37n	missense	171	21.92	48	SNP	1.000	G
COX5B	1329	genome.wustl.edu	37	2	98262609	98262609	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:98262609C>A	ENST00000258424.2	+	1	107	c.60C>A	c.(58-60)cgC>cgA	p.R20R	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	20					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						TGAGGGCTCGCGGCCCCAGTG	0.677																																						dbGAP											0													7.0	8.0	8.0					2																	98262609		2137	4154	6291	-	-	-	SO:0001819	synonymous_variant	0			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.60C>A	2.37:g.98262609C>A			Q53YB7|Q96J18|Q99610	Silent	SNP	pfam_Cyt_c_oxidase_su5b	p.R20	ENST00000258424.2	37	c.60	CCDS2032.1	2																																																																																			COX5B	-	NULL	ENSG00000135940		0.677	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	10	0.00	0	C	NM_001862		98262609	98262609	+1	no_errors	ENST00000258424	ensembl	human	known	69_37n	silent	2	87.50	14	SNP	0.896	A
COX5B	1329	genome.wustl.edu	37	2	98262609	98262609	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:98262609C>A	ENST00000258424.2	+	1	107	c.60C>A	c.(58-60)cgC>cgA	p.R20R	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	20					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						TGAGGGCTCGCGGCCCCAGTG	0.677																																						dbGAP											0													7.0	8.0	8.0					2																	98262609		2137	4154	6291	-	-	-	SO:0001819	synonymous_variant	0			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.60C>A	2.37:g.98262609C>A			Q53YB7|Q96J18|Q99610	Silent	SNP	pfam_Cyt_c_oxidase_su5b	p.R20	ENST00000258424.2	37	c.60	CCDS2032.1	2																																																																																			COX5B	-	NULL	ENSG00000135940		0.677	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	111	0.00	0	C	NM_001862		98262609	98262609	+1	no_errors	ENST00000258424	ensembl	human	known	69_37n	silent	12	84.62	66	SNP	0.896	A
COX5B	1329	genome.wustl.edu	37	2	98262609	98262609	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:98262609C>A	ENST00000258424.2	+	1	107	c.60C>A	c.(58-60)cgC>cgA	p.R20R	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	20					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|respiratory gaseous exchange (GO:0007585)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	cytochrome-c oxidase activity (GO:0004129)|metal ion binding (GO:0046872)			endometrium(1)|lung(1)|urinary_tract(1)	3						TGAGGGCTCGCGGCCCCAGTG	0.677																																						dbGAP											0													7.0	8.0	8.0					2																	98262609		2137	4154	6291	-	-	-	SO:0001819	synonymous_variant	0			BC006229	CCDS2032.1	2q11.2	2011-07-04			ENSG00000135940	ENSG00000135940	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2269	protein-coding gene	gene with protein product		123866					Standard	NM_001862		Approved		uc002sya.3	P10606	OTTHUMG00000130548	ENST00000258424.2:c.60C>A	2.37:g.98262609C>A			Q53YB7|Q96J18|Q99610	Silent	SNP	pfam_Cyt_c_oxidase_su5b	p.R20	ENST00000258424.2	37	c.60	CCDS2032.1	2																																																																																			COX5B	-	NULL	ENSG00000135940		0.677	COX5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5B	HGNC	protein_coding	OTTHUMT00000252972.2	8	0.00	0	C	NM_001862		98262609	98262609	+1	no_errors	ENST00000258424	ensembl	human	known	69_37n	silent	2	87.50	14	SNP	0.896	A
CSMD2	114784	genome.wustl.edu	37	1	34181939	34181939	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:34181939C>T	ENST00000373381.4	-	20	3340	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1015	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1015H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGATGAAGCGGACCTGGGC	0.537																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											68.0	72.0	70.0					1																	34181939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3164G>A	1.37:g.34181939C>T	ENSP00000362479:p.Arg1055His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1055H	ENST00000373381.4	37	c.3164		1	.	.	.	.	.	.	.	.	.	.	C	32	5.128130	0.94473	.	.	ENSG00000121904	ENST00000373381	T	0.18960	2.18	5.71	5.71	0.89125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.22417	-1.0217	10	0.51188	T	0.08	.	18.425	0.90606	0.0:1.0:0.0:0.0	.	1015;1055	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1055	ENSP00000362479:R1055H	ENSP00000241312:R1015H	R	-	2	0	CSMD2	33954526	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.694000	0.91930	0.650000	0.86243	CGC	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		49	0.00	0	C	NM_052896		34181939	34181939	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	81	46.05	70	SNP	1.000	T
CSMD2	114784	genome.wustl.edu	37	1	34181939	34181939	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:34181939C>T	ENST00000373381.4	-	20	3340	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1015	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1015H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGATGAAGCGGACCTGGGC	0.537																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											68.0	72.0	70.0					1																	34181939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3164G>A	1.37:g.34181939C>T	ENSP00000362479:p.Arg1055His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1055H	ENST00000373381.4	37	c.3164		1	.	.	.	.	.	.	.	.	.	.	C	32	5.128130	0.94473	.	.	ENSG00000121904	ENST00000373381	T	0.18960	2.18	5.71	5.71	0.89125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.22417	-1.0217	10	0.51188	T	0.08	.	18.425	0.90606	0.0:1.0:0.0:0.0	.	1015;1055	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1055	ENSP00000362479:R1055H	ENSP00000241312:R1015H	R	-	2	0	CSMD2	33954526	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.694000	0.91930	0.650000	0.86243	CGC	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		46	0.00	0	C	NM_052896		34181939	34181939	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	16	60.98	25	SNP	1.000	T
CSMD2	114784	genome.wustl.edu	37	1	34181939	34181939	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:34181939C>T	ENST00000373381.4	-	20	3340	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1015	Sushi 6. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1015H(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGAGATGAAGCGGACCTGGGC	0.537																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											68.0	72.0	70.0					1																	34181939		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373381.4:c.3164G>A	1.37:g.34181939C>T	ENSP00000362479:p.Arg1055His		B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1055H	ENST00000373381.4	37	c.3164		1	.	.	.	.	.	.	.	.	.	.	C	32	5.128130	0.94473	.	.	ENSG00000121904	ENST00000373381	T	0.18960	2.18	5.71	5.71	0.89125	CUB (5);	0.000000	0.85682	D	0.000000	T	0.46268	0.1384	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.22417	-1.0217	10	0.51188	T	0.08	.	18.425	0.90606	0.0:1.0:0.0:0.0	.	1015;1055	Q7Z408;E7EUA6	CSMD2_HUMAN;.	H	1055	ENSP00000362479:R1055H	ENSP00000241312:R1015H	R	-	2	0	CSMD2	33954526	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.818000	0.86416	2.694000	0.91930	0.650000	0.86243	CGC	CSMD2	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB	ENSG00000121904		0.537	CSMD2-201	KNOWN	basic|appris_principal	protein_coding	CSMD2	HGNC	protein_coding		49	0.00	0	C	NM_052896		34181939	34181939	-1	no_errors	ENST00000373381	ensembl	human	known	69_37n	missense	81	46.05	70	SNP	1.000	T
CTNNB1	1499	genome.wustl.edu	37	3	41268715	41268715	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr3:41268715G>A	ENST00000349496.5	+	7	1233	c.953G>A	c.(952-954)aGt>aAt	p.S318N	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S311N|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S318N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S318N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S318N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	318					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ATACTGGCTAGTGGTGGACCC	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	dbGAP		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													58.0	63.0	62.0					3																	41268715		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.953G>A	3.37:g.41268715G>A	ENSP00000344456:p.Ser318Asn		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo	p.S318N	ENST00000349496.5	37	c.953	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912988	0.52439	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	L	0.46614	1.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.52902	-0.8513	10	0.13470	T	0.59	0.1285	19.382	0.94540	0.0:0.0:1.0:0.0	.	246;318	B4DSW9;P35222	.;CTNB1_HUMAN	N	318;318;318;311;318	ENSP00000385604:S318N;ENSP00000379486:S318N;ENSP00000344456:S318N;ENSP00000411226:S311N;ENSP00000379488:S318N	ENSP00000344456:S318N	S	+	2	0	CTNNB1	41243719	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.591000	0.87537	0.591000	0.81541	AGT	CTNNB1	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000168036		0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	154	0.65	1	G	NM_001098210		41268715	41268715	+1	no_errors	ENST00000349496	ensembl	human	known	69_37n	missense	93	33.10	47	SNP	1.000	A
CTNNB1	1499	genome.wustl.edu	37	3	41268715	41268715	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:41268715G>A	ENST00000349496.5	+	7	1233	c.953G>A	c.(952-954)aGt>aAt	p.S318N	CTNNB1_ENST00000453024.1_Missense_Mutation_p.S311N|CTNNB1_ENST00000405570.1_Missense_Mutation_p.S318N|CTNNB1_ENST00000396183.3_Missense_Mutation_p.S318N|CTNNB1_ENST00000396185.3_Missense_Mutation_p.S318N	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	318					adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		ATACTGGCTAGTGGTGGACCC	0.383		15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)	dbGAP		Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	0													58.0	63.0	62.0					3																	41268715		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.953G>A	3.37:g.41268715G>A	ENSP00000344456:p.Ser318Asn		A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,prints_Beta-catenin,pfscan_Armadillo	p.S318N	ENST00000349496.5	37	c.953	CCDS2694.1	3	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912988	0.52439	.	.	ENSG00000168036	ENST00000405570;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185	T;T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12;-0.12	5.5	5.5	0.81552	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.56485	0.1988	L	0.46614	1.455	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.09377	0.002;0.004	T	0.52902	-0.8513	10	0.13470	T	0.59	0.1285	19.382	0.94540	0.0:0.0:1.0:0.0	.	246;318	B4DSW9;P35222	.;CTNB1_HUMAN	N	318;318;318;311;318	ENSP00000385604:S318N;ENSP00000379486:S318N;ENSP00000344456:S318N;ENSP00000411226:S311N;ENSP00000379488:S318N	ENSP00000344456:S318N	S	+	2	0	CTNNB1	41243719	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.869000	0.99810	2.591000	0.87537	0.591000	0.81541	AGT	CTNNB1	-	superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	ENSG00000168036		0.383	CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNB1	HGNC	protein_coding	OTTHUMT00000254182.2	135	0.74	1	G	NM_001098210		41268715	41268715	+1	no_errors	ENST00000349496	ensembl	human	known	69_37n	missense	93	33.10	47	SNP	1.000	A
CTNND1	1500	genome.wustl.edu	37	11	57577653	57577653	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr11:57577653G>A	ENST00000399050.4	+	16	3044	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	CTNND1_ENST00000530748.1_Silent_p.R782R|CTNND1_ENST00000532787.1_Silent_p.R729R|CTNND1_ENST00000526357.1_Silent_p.R776R|CTNND1_ENST00000361332.4_Silent_p.R830R|CTNND1_ENST00000534579.1_Silent_p.R776R|CTNND1_ENST00000524630.1_Silent_p.R830R|CTNND1_ENST00000526938.1_Silent_p.R836R|CTNND1_ENST00000533667.1_Silent_p.R507R|CTNND1_ENST00000526772.1_Silent_p.R507R|CTNND1_ENST00000528232.1_Silent_p.R735R|CTNND1_ENST00000528621.1_Silent_p.R776R|CTNND1_ENST00000531014.1_Silent_p.R507R|CTNND1_ENST00000529873.1_Silent_p.R776R|CTNND1_ENST00000426142.2_Silent_p.R729R|CTNND1_ENST00000532245.1_Silent_p.R729R|CTNND1_ENST00000530094.1_Silent_p.R729R|CTNND1_ENST00000415361.2_Silent_p.R735R|CTNND1_ENST00000529526.1_Silent_p.R776R|CTNND1_ENST00000532463.1_Silent_p.R729R|CTNND1_ENST00000399039.4_Silent_p.R836R|CTNND1_ENST00000532844.1_Silent_p.R782R|CTNND1_ENST00000428599.2_Silent_p.R830R|CTNND1_ENST00000360682.6_Silent_p.R836R|CTNND1_ENST00000527467.1_Silent_p.R513R|CTNND1_ENST00000361391.6_Silent_p.R830R|CTNND1_ENST00000358694.6_Silent_p.R830R|CTNND1_ENST00000529919.1_Silent_p.R836R|CTNND1_ENST00000525902.1_Silent_p.R513R|CTNND1_ENST00000361796.4_Silent_p.R830R|CTNND1_ENST00000529986.1_Silent_p.R729R|CTNND1_ENST00000532649.1_Silent_p.R776R	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	836					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGGAACTGCGGAAGCCACTGG	0.408																																						dbGAP											0													67.0	70.0	69.0					11																	57577653		1834	4082	5916	-	-	-	SO:0001819	synonymous_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2508G>A	11.37:g.57577653G>A			A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	NULL	p.E13K	ENST00000399050.4	37	c.37	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227944	0.22542	.	.	ENSG00000198561	ENST00000531007	.	.	.	5.31	3.45	0.39498	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53676	-0.8405	4	.	.	.	-0.5413	8.8577	0.35238	0.2291:0.0:0.7709:0.0	.	.	.	.	K	13	.	.	E	+	1	0	CTNND1	57334229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.610000	0.36869	0.820000	0.34516	0.650000	0.86243	GAA	CTNND1	-	NULL	ENSG00000198561		0.408	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	136	0.73	1	G	NM_001331		57577653	57577653	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531007	ensembl	human	putative	69_37n	missense	56	43.43	43	SNP	1.000	A
CTNND1	1500	genome.wustl.edu	37	11	57577653	57577653	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:57577653G>A	ENST00000399050.4	+	16	3044	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	CTNND1_ENST00000530748.1_Silent_p.R782R|CTNND1_ENST00000532787.1_Silent_p.R729R|CTNND1_ENST00000526357.1_Silent_p.R776R|CTNND1_ENST00000361332.4_Silent_p.R830R|CTNND1_ENST00000534579.1_Silent_p.R776R|CTNND1_ENST00000524630.1_Silent_p.R830R|CTNND1_ENST00000526938.1_Silent_p.R836R|CTNND1_ENST00000533667.1_Silent_p.R507R|CTNND1_ENST00000526772.1_Silent_p.R507R|CTNND1_ENST00000528232.1_Silent_p.R735R|CTNND1_ENST00000528621.1_Silent_p.R776R|CTNND1_ENST00000531014.1_Silent_p.R507R|CTNND1_ENST00000529873.1_Silent_p.R776R|CTNND1_ENST00000426142.2_Silent_p.R729R|CTNND1_ENST00000532245.1_Silent_p.R729R|CTNND1_ENST00000530094.1_Silent_p.R729R|CTNND1_ENST00000415361.2_Silent_p.R735R|CTNND1_ENST00000529526.1_Silent_p.R776R|CTNND1_ENST00000532463.1_Silent_p.R729R|CTNND1_ENST00000399039.4_Silent_p.R836R|CTNND1_ENST00000532844.1_Silent_p.R782R|CTNND1_ENST00000428599.2_Silent_p.R830R|CTNND1_ENST00000360682.6_Silent_p.R836R|CTNND1_ENST00000527467.1_Silent_p.R513R|CTNND1_ENST00000361391.6_Silent_p.R830R|CTNND1_ENST00000358694.6_Silent_p.R830R|CTNND1_ENST00000529919.1_Silent_p.R836R|CTNND1_ENST00000525902.1_Silent_p.R513R|CTNND1_ENST00000361796.4_Silent_p.R830R|CTNND1_ENST00000529986.1_Silent_p.R729R|CTNND1_ENST00000532649.1_Silent_p.R776R	NM_001085458.1	NP_001078927.1	O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	836					adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|regulation of transcription, DNA-templated (GO:0006355)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)|zonula adherens (GO:0005915)	cadherin binding (GO:0045296)|receptor binding (GO:0005102)			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AGGAACTGCGGAAGCCACTGG	0.408																																						dbGAP											0													67.0	70.0	69.0					11																	57577653		1834	4082	5916	-	-	-	SO:0001819	synonymous_variant	0			AB002382	CCDS44604.1, CCDS44605.1, CCDS44606.1, CCDS44607.1, CCDS44608.1, CCDS44609.1, CCDS53632.1, CCDS53633.1, CCDS53634.1, CCDS55763.1, CCDS55764.1, CCDS55765.1, CCDS55766.1, CCDS55767.1, CCDS73290.1	11q12.1	2013-02-14				ENSG00000198561		"""Armadillo repeat containing"""	2515	protein-coding gene	gene with protein product		601045		CTNND		8808291	Standard	NM_001085460		Approved	KIAA0384, p120, p120cas, p120ctn	uc001nmc.4	O60716		ENST00000399050.4:c.2508G>A	11.37:g.57577653G>A			A8K939|O15088|O60713|O60714|O60715|O60935|Q6DHZ7|Q6RBX8|Q9UP71|Q9UP72|Q9UP73	Missense_Mutation	SNP	NULL	p.E13K	ENST00000399050.4	37	c.37	CCDS44604.1	11	.	.	.	.	.	.	.	.	.	.	G	9.980	1.227944	0.22542	.	.	ENSG00000198561	ENST00000531007	.	.	.	5.31	3.45	0.39498	.	.	.	.	.	T	0.58637	0.2136	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.53676	-0.8405	4	.	.	.	-0.5413	8.8577	0.35238	0.2291:0.0:0.7709:0.0	.	.	.	.	K	13	.	.	E	+	1	0	CTNND1	57334229	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.610000	0.36869	0.820000	0.34516	0.650000	0.86243	GAA	CTNND1	-	NULL	ENSG00000198561		0.408	CTNND1-006	KNOWN	basic|CCDS	protein_coding	CTNND1	HGNC	protein_coding	OTTHUMT00000393944.1	142	0.00	0	G	NM_001331		57577653	57577653	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531007	ensembl	human	putative	69_37n	missense	56	43.43	43	SNP	1.000	A
CUX1	1523	genome.wustl.edu	37	7	101713690	101713690	+	Silent	SNP	C	C	T	rs534264135		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr7:101713690C>T	ENST00000292535.7	+	4	299	c.261C>T	c.(259-261)gaC>gaT	p.D87D	CUX1_ENST00000547394.2_Silent_p.D82D|CUX1_ENST00000425244.2_Silent_p.D98D|CUX1_ENST00000556210.1_Silent_p.D87D|CUX1_ENST00000292538.4_Silent_p.D98D|CUX1_ENST00000550008.2_Silent_p.D87D|CUX1_ENST00000393824.3_Silent_p.D61D|CUX1_ENST00000437600.4_Silent_p.D98D|CUX1_ENST00000360264.3_Silent_p.D98D|CUX1_ENST00000549414.2_Silent_p.D87D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.D87D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	87					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATTGATTGACGTCCCAGGTA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18777	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	57.0	58.0					7																	101713690		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.261C>T	7.37:g.101713690C>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D98	ENST00000292535.7	37	c.294	CCDS5721.1	7																																																																																			CUX1	-	NULL	ENSG00000257923		0.468	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	63	0.00	0	C	NM_001913		101713690	101713690	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	silent	168	24.32	54	SNP	0.998	T
CUX1	1523	genome.wustl.edu	37	7	101713690	101713690	+	Silent	SNP	C	C	T	rs534264135		TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr7:101713690C>T	ENST00000292535.7	+	4	299	c.261C>T	c.(259-261)gaC>gaT	p.D87D	CUX1_ENST00000547394.2_Silent_p.D82D|CUX1_ENST00000425244.2_Silent_p.D98D|CUX1_ENST00000556210.1_Silent_p.D87D|CUX1_ENST00000292538.4_Silent_p.D98D|CUX1_ENST00000550008.2_Silent_p.D87D|CUX1_ENST00000393824.3_Silent_p.D61D|CUX1_ENST00000437600.4_Silent_p.D98D|CUX1_ENST00000360264.3_Silent_p.D98D|CUX1_ENST00000549414.2_Silent_p.D87D|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000546411.2_Silent_p.D87D	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	87					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GATTGATTGACGTCCCAGGTA	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18777	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													59.0	57.0	58.0					7																	101713690		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.261C>T	7.37:g.101713690C>T			B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D98	ENST00000292535.7	37	c.294	CCDS5721.1	7																																																																																			CUX1	-	NULL	ENSG00000257923		0.468	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	14	0.00	0	C	NM_001913		101713690	101713690	+1	no_errors	ENST00000360264	ensembl	human	known	69_37n	silent	8	50.00	8	SNP	0.998	T
CYP1B1-AS1	285154	genome.wustl.edu	37	2	38408943	38408943	+	RNA	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:38408943T>C	ENST00000413828.2	+	0	1703					NR_027252.1				CYP1B1 antisense RNA 1																		CATAACTCACTTAAAAGCCTG	0.378																																						dbGAP											0																																										-	-	-			0			BC031410		2p22.2	2012-10-12	2012-08-15	2011-04-28	ENSG00000232973	ENSG00000232973		"""Long non-coding RNAs"""	28543	non-coding RNA	RNA, long non-coding			"""chromosome 2 open reading frame 58"", ""CYP1B1 antisense RNA 1 (non-protein coding)"""	C2orf58		12477932	Standard	NR_027252		Approved	MGC34824	uc010faj.2		OTTHUMG00000128569		2.37:g.38408943T>C				RNA	SNP	-	NULL	ENST00000413828.2	37	NULL		2																																																																																			CYP1B1-AS1	-	-	ENSG00000232973		0.378	CYP1B1-AS1-001	KNOWN	basic	antisense	CYP1B1-AS1	HGNC	antisense	OTTHUMT00000250420.2	45	0.00	0	T			38408943	38408943	+1	no_errors	ENST00000413828	ensembl	human	known	69_37n	rna	42	27.59	16	SNP	0.180	C
DAAM2	23500	genome.wustl.edu	37	6	39836695	39836695	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:39836695G>A	ENST00000398904.2	+	7	1041	c.859G>A	c.(859-861)Gct>Act	p.A287T	DAAM2_ENST00000538976.1_Missense_Mutation_p.A287T|DAAM2_ENST00000274867.4_Missense_Mutation_p.A287T			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	287	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCTCAATGCTGGAGCTGG	0.532																																						dbGAP											0													74.0	79.0	77.0					6																	39836695		2099	4220	6319	-	-	-	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.859G>A	6.37:g.39836695G>A	ENSP00000381876:p.Ala287Thr		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A287T	ENST00000398904.2	37	c.859	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702794	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87334	-2.24;-2.24;-2.24	5.56	5.56	0.83823	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	N	0.15975	0.35	0.80722	D	1	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.78198	-0.2297	10	0.20519	T	0.43	.	15.0293	0.71694	0.0:0.142:0.858:0.0	.	287;287	G5EA45;Q86T65	.;DAAM2_HUMAN	T	287	ENSP00000274867:A287T;ENSP00000381876:A287T;ENSP00000437808:A287T	ENSP00000274867:A287T	A	+	1	0	DAAM2	39944673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	2.777000	0.95525	0.591000	0.81541	GCT	DAAM2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000146122		0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	106	0.93	1	G			39836695	39836695	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	missense	226	23.13	68	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39836695	39836695	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr6:39836695G>A	ENST00000398904.2	+	7	1041	c.859G>A	c.(859-861)Gct>Act	p.A287T	DAAM2_ENST00000538976.1_Missense_Mutation_p.A287T|DAAM2_ENST00000274867.4_Missense_Mutation_p.A287T			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	287	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCTCAATGCTGGAGCTGG	0.532																																						dbGAP											0													74.0	79.0	77.0					6																	39836695		2099	4220	6319	-	-	-	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.859G>A	6.37:g.39836695G>A	ENSP00000381876:p.Ala287Thr		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A287T	ENST00000398904.2	37	c.859	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702794	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87334	-2.24;-2.24;-2.24	5.56	5.56	0.83823	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	N	0.15975	0.35	0.80722	D	1	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.78198	-0.2297	10	0.20519	T	0.43	.	15.0293	0.71694	0.0:0.142:0.858:0.0	.	287;287	G5EA45;Q86T65	.;DAAM2_HUMAN	T	287	ENSP00000274867:A287T;ENSP00000381876:A287T;ENSP00000437808:A287T	ENSP00000274867:A287T	A	+	1	0	DAAM2	39944673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	2.777000	0.95525	0.591000	0.81541	GCT	DAAM2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000146122		0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	38	0.00	0	G			39836695	39836695	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	1.000	A
DAAM2	23500	genome.wustl.edu	37	6	39836695	39836695	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr6:39836695G>A	ENST00000398904.2	+	7	1041	c.859G>A	c.(859-861)Gct>Act	p.A287T	DAAM2_ENST00000538976.1_Missense_Mutation_p.A287T|DAAM2_ENST00000274867.4_Missense_Mutation_p.A287T			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	287	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCCTCAATGCTGGAGCTGG	0.532																																						dbGAP											0													74.0	79.0	77.0					6																	39836695		2099	4220	6319	-	-	-	SO:0001583	missense	0			AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.859G>A	6.37:g.39836695G>A	ENSP00000381876:p.Ala287Thr		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A287T	ENST00000398904.2	37	c.859	CCDS56426.1	6	.	.	.	.	.	.	.	.	.	.	G	18.81	3.702794	0.68501	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.87334	-2.24;-2.24;-2.24	5.56	5.56	0.83823	GTPase-binding/formin homology 3 (1);Diaphanous FH3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.79822	0.4512	N	0.15975	0.35	0.80722	D	1	P;P	0.50819	0.925;0.939	P;P	0.56278	0.691;0.795	T	0.78198	-0.2297	10	0.20519	T	0.43	.	15.0293	0.71694	0.0:0.142:0.858:0.0	.	287;287	G5EA45;Q86T65	.;DAAM2_HUMAN	T	287	ENSP00000274867:A287T;ENSP00000381876:A287T;ENSP00000437808:A287T	ENSP00000274867:A287T	A	+	1	0	DAAM2	39944673	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.521000	0.60532	2.777000	0.95525	0.591000	0.81541	GCT	DAAM2	-	pfam_Drf_FH3,superfamily_ARM-type_fold	ENSG00000146122		0.532	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	DAAM2	HGNC	protein_coding	OTTHUMT00000280648.1	137	0.00	0	G			39836695	39836695	+1	no_errors	ENST00000274867	ensembl	human	known	69_37n	missense	226	23.13	68	SNP	1.000	A
DHRS7	51635	genome.wustl.edu	37	14	60611664	60611664	+	3'UTR	SNP	G	G	T	rs77631725		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr14:60611664G>T	ENST00000216500.5	-	0	1495				DHRS7_ENST00000536410.2_3'UTR|DHRS7_ENST00000557185.1_3'UTR|PCNXL4_ENST00000406949.1_Intron			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7							membrane (GO:0016020)	oxidoreductase activity (GO:0016491)			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CCAGTGGCTTGAAAAGTACAG	0.333																																						dbGAP											0													63.0	76.0	71.0					14																	60611664		2203	4300	6503	-	-	-	SO:0001624	3_prime_UTR_variant	0			AF151844	CCDS9743.1	14q23.1	2011-09-20			ENSG00000100612	ENSG00000100612		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	21524	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 4"", ""short chain dehydrogenase/reductase family 34C, member 1"""	612833				10800688, 10810093, 19027726	Standard	NM_016029		Approved	retDSR4, SDR34C1	uc001xes.3	Q9Y394	OTTHUMG00000140331	ENST00000216500.5:c.*20C>A	14.37:g.60611664G>T			B2R896|Q9UKU2	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH	p.F182L	ENST00000216500.5	37	c.546	CCDS9743.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.611|9.611	1.131170|1.131170	0.21041|0.21041	.|.	.|.	ENSG00000100612|ENSG00000100612	ENST00000557751|ENST00000360557	D|.	0.88975|.	-2.45|.	3.95|3.95	-2.73|-2.73	0.05950|0.05950	.|.	.|3.861890	.|0.00559	.|N	.|0.000279	T|T	0.30262|0.30262	0.0759|0.0759	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.12426|0.12426	-1.0548|-1.0548	5|6	.|0.33940	.|T	.|0.23	.|.	5.1553|5.1553	0.15031|0.15031	0.5518:0.1663:0.2818:0.0|0.5518:0.1663:0.2818:0.0	.|.	.|.	.|.	.|.	L|K	182|346	ENSP00000452026:F182L|.	.|ENSP00000353759:Q346K	F|Q	-|-	3|1	2|0	DHRS7|DHRS7	59681417|59681417	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.052000|0.052000	0.14988|0.14988	-0.774000|-0.774000	0.04684|0.04684	-0.592000|-0.592000	0.05851|0.05851	-0.478000|-0.478000	0.04885|0.04885	TTC|CAA	DHRS7	-	NULL	ENSG00000100612		0.333	DHRS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS7	HGNC	protein_coding	OTTHUMT00000276947.2	167	0.00	0	G	NM_016029		60611664	60611664	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000557751	ensembl	human	putative	69_37n	missense	103	44.32	82	SNP	0.000	T
DIAPH3	81624	genome.wustl.edu	37	13	60584795	60584795	+	Missense_Mutation	SNP	C	C	A	rs200249252		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:60584795C>A	ENST00000400324.4	-	8	1000	c.780G>T	c.(778-780)ttG>ttT	p.L260F	DIAPH3_ENST00000400320.1_Missense_Mutation_p.L214F|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000377908.2_Missense_Mutation_p.L249F|DIAPH3_ENST00000267215.4_Missense_Mutation_p.L260F|DIAPH3_ENST00000400330.1_Missense_Mutation_p.L260F|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Missense_Mutation_p.L190F	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	260	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TAATTCTTTCCAAGCCATACT	0.338																																						dbGAP											0													44.0	47.0	46.0					13																	60584795		1816	4075	5891	-	-	-	SO:0001583	missense	0			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.780G>T	13.37:g.60584795C>A	ENSP00000383178:p.Leu260Phe		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.L260F	ENST00000400324.4	37	c.780	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	17.12	3.307271	0.60305	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000453990	D;D;D;D;D;D	0.90385	-2.35;-2.35;-2.35;-2.35;-2.66;-2.35	5.97	1.84	0.25277	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.64402	D	0.000001	D	0.92740	0.7692	L	0.59436	1.845	0.41948	D	0.99064	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.97110	1.0;1.0;1.0;0.996	D	0.90563	0.4517	10	0.62326	D	0.03	.	9.1608	0.37021	0.0:0.6123:0.0:0.3877	.	190;214;249;260	A8MYX0;C9JL55;C9JDG1;Q9NSV4	.;.;.;DIAP3_HUMAN	F	260;260;249;214;190;249;190;214;260;260	ENSP00000383178:L260F;ENSP00000383184:L260F;ENSP00000367141:L249F;ENSP00000383173:L190F;ENSP00000383174:L214F;ENSP00000267215:L260F	ENSP00000267215:L260F	L	-	3	2	DIAPH3	59482796	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	1.506000	0.35747	-0.002000	0.14469	-0.203000	0.12734	TTG	DIAPH3	-	pfam_Drf_GTPase-bd,superfamily_ARM-type_fold	ENSG00000139734		0.338	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	113	0.00	0	C	NM_001042517		60584795	60584795	-1	no_errors	ENST00000400324	ensembl	human	known	69_37n	missense	45	53.61	52	SNP	1.000	A
DLG1	1739	genome.wustl.edu	37	3	196888560	196888560	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:196888560A>G	ENST00000419354.1	-	6	819	c.533T>C	c.(532-534)gTc>gCc	p.V178A	DLG1_ENST00000346964.2_Missense_Mutation_p.V178A|DLG1_ENST00000392382.2_Intron|DLG1_ENST00000452595.1_Intron|DLG1_ENST00000443183.1_Intron|DLG1_ENST00000450955.1_Intron|DLG1_ENST00000422288.1_Intron|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000314062.3_Intron|DLG1_ENST00000448528.2_Missense_Mutation_p.V178A			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	178	Interaction with SH3 domains.				actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GACTGGCAGGACAGGGATCAC	0.383																																						dbGAP											0													66.0	72.0	70.0					3																	196888560		2203	4300	6503	-	-	-	SO:0001583	missense	0			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.533T>C	3.37:g.196888560A>G	ENSP00000407531:p.Val178Ala		A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.V178A	ENST00000419354.1	37	c.533	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	A	8.610	0.888812	0.17540	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000381807;ENST00000419354;ENST00000448528;ENST00000392380	T;T;T;T	0.43688	2.64;2.64;2.64;0.94	5.63	2.02	0.26589	Membrane-associated guanylate kinase (MAGUK), PEST domain, N-terminal (1);	0.407836	0.23838	N	0.044073	T	0.18087	0.0434	N	0.04508	-0.205	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.15870	0.014;0.001	T	0.06232	-1.0838	10	0.18276	T	0.48	.	8.3852	0.32497	0.7715:0.0:0.2285:0.0	.	178;178	Q12959;Q12959-2	DLG1_HUMAN;.	A	178	ENSP00000345731:V178A;ENSP00000407531:V178A;ENSP00000391732:V178A;ENSP00000376185:V178A	ENSP00000345731:V178A	V	-	2	0	DLG1	198372957	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	3.759000	0.55227	0.119000	0.18210	-0.346000	0.07831	GTC	DLG1	-	pfam_MAGUK_PEST_N,pirsf_M-assoc_guanylate_kinase	ENSG00000075711		0.383	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	211	0.94	2	A	NM_004087		196888560	196888560	-1	no_errors	ENST00000346964	ensembl	human	known	69_37n	missense	109	48.83	104	SNP	1.000	G
DOCK5	80005	genome.wustl.edu	37	8	25216524	25216524	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr8:25216524G>C	ENST00000276440.7	+	28	2940	c.2896G>C	c.(2896-2898)Gac>Cac	p.D966H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	966					positive regulation of GTPase activity (GO:0043547)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAAATGGACGACAGCCACTA	0.448																																					Pancreas(145;34 1887 3271 10937 30165)	dbGAP											0													182.0	163.0	170.0					8																	25216524		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6047.1	8p21.2	2009-04-17			ENSG00000147459	ENSG00000147459			23476	protein-coding gene	gene with protein product						12432077	Standard	NM_024940		Approved	FLJ21034	uc003xeg.3	Q9H7D0	OTTHUMG00000131991	ENST00000276440.7:c.2896G>C	8.37:g.25216524G>C	ENSP00000276440:p.Asp966His		B2RNY0|Q5XKD5|Q6AI11|Q6PJS6|Q6ZTS6	Missense_Mutation	SNP	pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain	p.D966H	ENST00000276440.7	37	c.2896	CCDS6047.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.9|26.9	4.783635|4.783635	0.90282|0.90282	.|.	.|.	ENSG00000147459|ENSG00000147459	ENST00000276440|ENST00000444569	T|.	0.04317|.	3.65|.	5.96|5.96	5.96|5.96	0.96718|0.96718	.|.	0.053391|.	0.64402|.	D|.	0.000001|.	D|D	0.83046|0.83046	0.5169|0.5169	M|M	0.83953|0.83953	2.67|2.67	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.998;0.999|.	D;D;D|.	0.70227|.	0.968;0.968;0.968|.	T|T	0.82969|0.82969	-0.0193|-0.0193	10|5	0.72032|.	D|.	0.01|.	.|.	19.9958|19.9958	0.97383|0.97383	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	956;741;966|.	D3DSS6;Q68DL4;Q9H7D0|.	.;.;DOCK5_HUMAN|.	H|P	966|737	ENSP00000276440:D966H|.	ENSP00000276440:D966H|.	D|R	+|+	1|2	0|0	DOCK5|DOCK5	25272441|25272441	1.000000|1.000000	0.71417|0.71417	0.963000|0.963000	0.40424|0.40424	0.794000|0.794000	0.44872|0.44872	7.982000|7.982000	0.88131|0.88131	2.826000|2.826000	0.97356|0.97356	0.655000|0.655000	0.94253|0.94253	GAC|CGA	DOCK5	-	superfamily_ARM-type_fold	ENSG00000147459		0.448	DOCK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK5	HGNC	protein_coding	OTTHUMT00000254955.2	211	0.00	0	G	NM_024940		25216524	25216524	+1	no_errors	ENST00000276440	ensembl	human	known	69_37n	missense	73	34.48	40	SNP	1.000	C
DSCAM	1826	genome.wustl.edu	37	21	41385226	41385226	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr21:41385226C>T	ENST00000400454.1	-	33	6251	c.5774G>A	c.(5773-5775)gGa>gAa	p.G1925E		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1925				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCATGCTTGTCCTAAGCTCAG	0.562																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													52.0	53.0	53.0					21																	41385226		1982	4149	6131	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5774G>A	21.37:g.41385226C>T	ENSP00000383303:p.Gly1925Glu		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1925E	ENST00000400454.1	37	c.5774	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	21.3	4.129270	0.77549	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.75938	-0.17;-0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	N	0.14661	0.345	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.82250	-0.0550	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:1.0:0.0:0.0	.	1925	O60469	DSCAM_HUMAN	E	1925;1659	ENSP00000383303:G1925E;ENSP00000385342:G1659E	ENSP00000383303:G1925E	G	-	2	0	DSCAM	40307096	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.290000	0.78711	2.464000	0.83262	0.557000	0.71058	GGA	DSCAM	-	NULL	ENSG00000171587		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	24	0.00	0	C	NM_001389		41385226	41385226	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	1.000	T
DSCAM	1826	genome.wustl.edu	37	21	41385226	41385226	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr21:41385226C>T	ENST00000400454.1	-	33	6251	c.5774G>A	c.(5773-5775)gGa>gAa	p.G1925E		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1925				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966). {ECO:0000305}.	cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GCATGCTTGTCCTAAGCTCAG	0.562																																					Melanoma(134;970 1778 1785 21664 32388)	dbGAP											0													52.0	53.0	53.0					21																	41385226		1982	4149	6131	-	-	-	SO:0001583	missense	0			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.5774G>A	21.37:g.41385226C>T	ENSP00000383303:p.Gly1925Glu		O60468	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G1925E	ENST00000400454.1	37	c.5774	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	.	21.3	4.129270	0.77549	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.75938	-0.17;-0.98	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.77831	0.4189	N	0.14661	0.345	0.54753	D	0.999987	D	0.89917	1.0	D	0.87578	0.998	T	0.82250	-0.0550	10	0.72032	D	0.01	.	18.9499	0.92637	0.0:1.0:0.0:0.0	.	1925	O60469	DSCAM_HUMAN	E	1925;1659	ENSP00000383303:G1925E;ENSP00000385342:G1659E	ENSP00000383303:G1925E	G	-	2	0	DSCAM	40307096	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.290000	0.78711	2.464000	0.83262	0.557000	0.71058	GGA	DSCAM	-	NULL	ENSG00000171587		0.562	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	19	0.00	0	C	NM_001389		41385226	41385226	-1	no_errors	ENST00000400454	ensembl	human	known	69_37n	missense	82	14.58	14	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56354371	56354371	+	Missense_Mutation	SNP	C	C	T	rs200559843		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:56354371C>T	ENST00000361203.3	-	81	19841	c.19834G>A	c.(19834-19836)Gaa>Aaa	p.E6612K	DST_ENST00000244364.6_Missense_Mutation_p.E4309K|DST_ENST00000370788.2_Missense_Mutation_p.E4526K|DST_ENST00000370754.5_Missense_Mutation_p.E6901K|DST_ENST00000446842.2_Missense_Mutation_p.E6397K|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.E4635K|DST_ENST00000370769.4_Missense_Mutation_p.E6723K			Q03001	DYST_HUMAN	dystonin	6612					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGACTCTTCTAGCCACTCC	0.358																																						dbGAP											0													135.0	129.0	131.0					6																	56354371		1809	4077	5886	-	-	-	SO:0001583	missense	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.19834G>A	6.37:g.56354371C>T	ENSP00000354508:p.Glu6612Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E6901K	ENST00000361203.3	37	c.20701		6	.	.	.	.	.	.	.	.	.	.	C	26.2	4.709851	0.89018	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.69	5.69	0.88448	.	0.000000	0.53938	D	0.000047	T	0.54711	0.1875	L	0.42245	1.32	0.33446	D	0.583085	P;D;D;P;P;P	0.69078	0.929;0.997;0.993;0.939;0.939;0.559	P;D;P;P;P;P	0.71414	0.814;0.973;0.9;0.67;0.579;0.559	T	0.40001	-0.9586	9	0.33141	T	0.24	.	20.181	0.98201	0.0:1.0:0.0:0.0	.	4635;6723;6901;5;6721;4309	Q5TBT1;E7ERU2;E9PEB9;Q9H722;Q03001;Q03001-8	.;.;.;.;DYST_HUMAN;.	K	4309;6901;6723;4635;6397;4526;6612	ENSP00000244364:E4309K;ENSP00000359790:E6901K;ENSP00000359805:E6723K;ENSP00000400883:E4635K;ENSP00000393645:E6397K;ENSP00000359824:E4526K;ENSP00000354508:E6612K	ENSP00000244364:E4309K	E	-	1	0	DST	56462330	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.045000	0.71020	2.840000	0.97914	0.655000	0.94253	GAA	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin	ENSG00000151914		0.358	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	313	0.00	0	C	NM_001723		56354371	56354371	-1	no_errors	ENST00000370754	ensembl	human	known	69_37n	missense	365	26.56	132	SNP	1.000	T
EDA2R	60401	genome.wustl.edu	37	X	65819536	65819536	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:65819536G>A	ENST00000374719.3	-	6	740	c.684C>T	c.(682-684)ttC>ttT	p.F228F	EDA2R_ENST00000396050.1_Silent_p.F228F|EDA2R_ENST00000456230.2_Silent_p.F228F|EDA2R_ENST00000451436.2_Silent_p.F104F|EDA2R_ENST00000450752.1_Silent_p.F249F|EDA2R_ENST00000253392.5_Silent_p.F249F	NM_021783.3	NP_068555	Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	228					cell differentiation (GO:0030154)|embryo development (GO:0009790)|epidermis development (GO:0008544)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|tumor necrosis factor-activated receptor activity (GO:0005031)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCTGTGTGGGGAAGCCACTAG	0.567																																						dbGAP											0													69.0	48.0	55.0					X																	65819536		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF298812	CCDS14386.1, CCDS56603.1	Xq11.1	2013-05-22			ENSG00000131080	ENSG00000131080		"""Tumor necrosis factor receptor superfamily"""	17756	protein-coding gene	gene with protein product		300276				11039935	Standard	NM_021783		Approved	XEDAR, EDA-A2R, EDAA2R, TNFRSF27	uc004dwt.2	Q9HAV5	OTTHUMG00000021736	ENST00000374719.3:c.684C>T	X.37:g.65819536G>A			Q5VYX9|Q5VYY0|Q6UWM2|Q8IZA6	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,prints_TNFR_27,pfscan_TNFR/NGFR_Cys_rich_reg	p.F249	ENST00000374719.3	37	c.747	CCDS14386.1	X																																																																																			EDA2R	-	NULL	ENSG00000131080		0.567	EDA2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDA2R	HGNC	protein_coding	OTTHUMT00000057002.1	86	0.00	0	G	NM_021783		65819536	65819536	-1	no_errors	ENST00000253392	ensembl	human	known	69_37n	silent	52	26.76	19	SNP	0.919	A
MICU2	221154	genome.wustl.edu	37	13	22077135	22077135	+	Missense_Mutation	SNP	A	A	T	rs199644022		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr13:22077135A>T	ENST00000382374.4	-	9	928	c.863T>A	c.(862-864)cTt>cAt	p.L288H	MICU2_ENST00000479790.1_5'UTR	NM_152726.2	NP_689939.1	Q8IYU8	MICU2_HUMAN	mitochondrial calcium uptake 2	288					mitochondrial calcium ion transport (GO:0006851)|negative regulation of mitochondrial calcium ion concentration (GO:0051562)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)	calcium channel complex (GO:0034704)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)										AGTGAAAAAAAGTAGCCACTC	0.323																																						dbGAP											0													40.0	44.0	43.0					13																	22077135		2202	4296	6498	-	-	-	SO:0001583	missense	0			AK091907	CCDS9297.1	13q12.11	2013-03-13	2013-03-13	2013-03-13	ENSG00000165487	ENSG00000165487		"""EF-hand domain containing"""	31830	protein-coding gene	gene with protein product		610632	"""EF hand domain family A1"", ""EF-hand domain family, member A1"""	EFHA1		23409044	Standard	NM_152726		Approved		uc001uof.3	Q8IYU8	OTTHUMG00000067414	ENST00000382374.4:c.863T>A	13.37:g.22077135A>T	ENSP00000371811:p.Leu288His		Q8N0T6|Q8NAX8	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L288H	ENST00000382374.4	37	c.863	CCDS9297.1	13	.	.	.	.	.	.	.	.	.	.	A	23.8	4.461609	0.84317	.	.	ENSG00000165487	ENST00000382374	T	0.50001	0.76	5.72	5.72	0.89469	.	0.056068	0.64402	D	0.000001	T	0.73361	0.3577	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78876	-0.2031	10	0.87932	D	0	-1.8264	15.9968	0.80256	1.0:0.0:0.0:0.0	.	288	Q8IYU8	EFHA1_HUMAN	H	288	ENSP00000371811:L288H	ENSP00000371811:L288H	L	-	2	0	EFHA1	20975135	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.747000	0.91610	2.177000	0.69029	0.482000	0.46254	CTT	EFHA1	-	NULL	ENSG00000165487		0.323	MICU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHA1	HGNC	protein_coding	OTTHUMT00000144355.1	127	0.00	0	A	NM_152726		22077135	22077135	-1	no_errors	ENST00000382374	ensembl	human	known	69_37n	missense	66	30.61	30	SNP	1.000	T
EIF2S1	1965	genome.wustl.edu	37	14	67848325	67848325	+	Missense_Mutation	SNP	G	G	T	rs116791877	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr14:67848325G>T	ENST00000256383.4	+	6	1057	c.596G>T	c.(595-597)tGt>tTt	p.C199F	EIF2S1_ENST00000466499.2_Missense_Mutation_p.C199F	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	199					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		GAAGTGGCTTGTTATGGTTAT	0.318																																						dbGAP											0													87.0	94.0	91.0					14																	67848325		2203	4300	6503	-	-	-	SO:0001583	missense	0			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.596G>T	14.37:g.67848325G>T	ENSP00000256383:p.Cys199Phe			Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.C199F	ENST00000256383.4	37	c.596	CCDS9781.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.6|26.6	4.753979|4.753979	0.89843|0.89843	.|.	.|.	ENSG00000134001|ENSG00000134001	ENST00000256383;ENST00000557310;ENST00000466499|ENST00000555876	.|.	.|.	.|.	6.0|6.0	6.0|6.0	0.97389|0.97389	Translation initiation factor 2, alpha subunit, C-terminal (2);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.86715|0.86715	0.5999|0.5999	M|M	0.90977|0.90977	3.165|3.165	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	D|D	0.88023|0.88023	0.2770|0.2770	9|5	0.87932|.	D|.	0|.	-11.5064|-11.5064	20.4945|20.4945	0.99205|0.99205	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	199|.	P05198|.	IF2A_HUMAN|.	F|F	199|156	.|.	ENSP00000256383:C199F|.	C|V	+|+	2|1	0|0	EIF2S1|EIF2S1	66918078|66918078	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.724000|9.724000	0.98775|0.98775	2.846000|2.846000	0.97976|0.97976	0.650000|0.650000	0.86243|0.86243	TGT|GTT	EIF2S1	-	pfam_TIF_2_asu,superfamily_TIF2_asu_C	ENSG00000134001		0.318	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	197	0.00	0	G	NM_004094		67848325	67848325	+1	no_errors	ENST00000256383	ensembl	human	known	69_37n	missense	116	34.83	62	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184035124	184035124	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr3:184035124C>T	ENST00000346169.2	+	5	434	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R62W|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R15W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R15W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R55W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R62W|EIF4G1_ENST00000427845.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R55W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R62W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	55					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACCCTAGCCGGGCCCAGCC	0.582																																						dbGAP											0													80.0	95.0	90.0					3																	184035124		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.163C>T	3.37:g.184035124C>T	ENSP00000316879:p.Arg55Trp		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R62W	ENST00000346169.2	37	c.184	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146917	0.77888	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.21	4.3	0.51218	.	0.274225	0.28279	N	0.015927	T	0.38852	0.1056	L	0.55990	1.75	0.50813	D	0.99989	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.49387	0.609;0.609;0.609	T	0.16778	-1.0391	10	0.54805	T	0.06	-13.2146	8.8551	0.35223	0.2757:0.6054:0.1189:0.0	.	62;55;55	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	55;15;55;62;62;15;55;62;22;55;55;62;15;15	ENSP00000316879:R55W;ENSP00000391935:R15W;ENSP00000391412:R55W;ENSP00000413159:R62W;ENSP00000371767:R62W;ENSP00000415842:R15W;ENSP00000407240:R55W;ENSP00000338020:R62W;ENSP00000411214:R22W;ENSP00000343450:R55W;ENSP00000323737:R55W;ENSP00000416255:R62W;ENSP00000415943:R15W;ENSP00000395974:R15W	ENSP00000323737:R55W	R	+	1	2	EIF4G1	185517818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.475000	0.45162	2.702000	0.92279	0.655000	0.94253	CGG	EIF4G1	-	NULL	ENSG00000114867		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	48	0.00	0	C	NM_182917		184035124	184035124	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184035124	184035124	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr3:184035124C>T	ENST00000346169.2	+	5	434	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R62W|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R15W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R15W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R55W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R62W|EIF4G1_ENST00000427845.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R55W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R62W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	55					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACCCTAGCCGGGCCCAGCC	0.582																																						dbGAP											0													80.0	95.0	90.0					3																	184035124		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.163C>T	3.37:g.184035124C>T	ENSP00000316879:p.Arg55Trp		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R62W	ENST00000346169.2	37	c.184	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146917	0.77888	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.21	4.3	0.51218	.	0.274225	0.28279	N	0.015927	T	0.38852	0.1056	L	0.55990	1.75	0.50813	D	0.99989	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.49387	0.609;0.609;0.609	T	0.16778	-1.0391	10	0.54805	T	0.06	-13.2146	8.8551	0.35223	0.2757:0.6054:0.1189:0.0	.	62;55;55	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	55;15;55;62;62;15;55;62;22;55;55;62;15;15	ENSP00000316879:R55W;ENSP00000391935:R15W;ENSP00000391412:R55W;ENSP00000413159:R62W;ENSP00000371767:R62W;ENSP00000415842:R15W;ENSP00000407240:R55W;ENSP00000338020:R62W;ENSP00000411214:R22W;ENSP00000343450:R55W;ENSP00000323737:R55W;ENSP00000416255:R62W;ENSP00000415943:R15W;ENSP00000395974:R15W	ENSP00000323737:R55W	R	+	1	2	EIF4G1	185517818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.475000	0.45162	2.702000	0.92279	0.655000	0.94253	CGG	EIF4G1	-	NULL	ENSG00000114867		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	41	0.00	0	C	NM_182917		184035124	184035124	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	38	32.14	18	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184035124	184035124	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:184035124C>T	ENST00000346169.2	+	5	434	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	EIF4G1_ENST00000434061.2_5'Flank|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R62W|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R15W|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R15W|EIF4G1_ENST00000342981.4_Missense_Mutation_p.R55W|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R62W|EIF4G1_ENST00000427845.1_5'UTR|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R55W|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R62W	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	55					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTACCCTAGCCGGGCCCAGCC	0.582																																						dbGAP											0													80.0	95.0	90.0					3																	184035124		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.163C>T	3.37:g.184035124C>T	ENSP00000316879:p.Arg55Trp		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R62W	ENST00000346169.2	37	c.184	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146917	0.77888	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19;1.19	5.21	4.3	0.51218	.	0.274225	0.28279	N	0.015927	T	0.38852	0.1056	L	0.55990	1.75	0.50813	D	0.99989	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.49387	0.609;0.609;0.609	T	0.16778	-1.0391	10	0.54805	T	0.06	-13.2146	8.8551	0.35223	0.2757:0.6054:0.1189:0.0	.	62;55;55	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	W	55;15;55;62;62;15;55;62;22;55;55;62;15;15	ENSP00000316879:R55W;ENSP00000391935:R15W;ENSP00000391412:R55W;ENSP00000413159:R62W;ENSP00000371767:R62W;ENSP00000415842:R15W;ENSP00000407240:R55W;ENSP00000338020:R62W;ENSP00000411214:R22W;ENSP00000343450:R55W;ENSP00000323737:R55W;ENSP00000416255:R62W;ENSP00000415943:R15W;ENSP00000395974:R15W	ENSP00000323737:R55W	R	+	1	2	EIF4G1	185517818	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.475000	0.45162	2.702000	0.92279	0.655000	0.94253	CGG	EIF4G1	-	NULL	ENSG00000114867		0.582	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	64	0.00	0	C	NM_182917		184035124	184035124	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	69	24.18	22	SNP	1.000	T
EP400NL	347918	genome.wustl.edu	37	12	132589264	132589264	+	Silent	SNP	C	C	T	rs563327036	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:132589264C>T	ENST00000376625.4	+	1	725	c.699C>T	c.(697-699)gcC>gcT	p.A233A	EP400NL_ENST00000361109.5_Silent_p.A101A|EP400NL_ENST00000392352.1_Silent_p.A101A|EP400NL_ENST00000389560.2_Silent_p.A164A|EP400NL_ENST00000443539.2_Silent_p.A101A			Q6ZTU2	E400N_HUMAN	EP400 N-terminal like	233										endometrium(1)|lung(1)|prostate(2)|urinary_tract(1)	5						GCCCTGCAGCCGCGGGTGGGG	0.687													c|||	619	0.123602	0.2844	0.0562	5008	,	,		11537	0.0942		0.0457	False		,,,				2504	0.0644					dbGAP											0													1.0	2.0	2.0					12																	132589264		253	882	1135	-	-	-	SO:0001819	synonymous_variant	0			AK091234		12q24.33	2013-02-15			ENSG00000185684	ENSG00000185684			26602	protein-coding gene	gene with protein product						12477932	Standard	NR_003290		Approved	FLJ33915	uc009zyq.3	Q6ZTU2	OTTHUMG00000168251	ENST00000376625.4:c.699C>T	12.37:g.132589264C>T			A6NLB7|A8K0Z5|B3KQY2|Q6NXP1|Q8N253|Q8N7S7|Q9UFJ3	Silent	SNP	NULL	p.A233	ENST00000376625.4	37	c.699		12																																																																																			EP400NL	-	NULL	ENSG00000185684		0.687	EP400NL-202	KNOWN	basic|appris_candidate_longest	protein_coding	EP400NL	HGNC	protein_coding		8	0.00	0	C	NM_182613		132589264	132589264	+1	no_errors	ENST00000376625	ensembl	human	known	69_37n	silent	0	100.00	10	SNP	0.732	T
EXOSC1	51013	genome.wustl.edu	37	10	99196108	99196108	+	3'UTR	SNP	T	T	G	rs201390574		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr10:99196108T>G	ENST00000370902.3	-	0	713				EXOSC1_ENST00000485122.2_3'UTR|EXOSC1_ENST00000370886.5_3'UTR|EXOSC1_ENST00000370885.4_3'UTR|EXOSC1_ENST00000471049.1_5'Flank	NM_016046.3	NP_057130.1	Q9Y3B2	EXOS1_HUMAN	exosome component 1						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(1)|endometrium(1)|lung(5)	7		Renal(717;0.000147)|Colorectal(252;0.00205)|Ovarian(717;0.00965)		all cancers(201;8.29e-42)|Epithelial(162;5.7e-33)|BRCA - Breast invasive adenocarcinoma(275;0.000315)|Kidney(138;0.000832)|KIRC - Kidney renal clear cell carcinoma(50;0.00269)|STAD - Stomach adenocarcinoma(243;0.202)		GAAGTGGCTGTTGGCCGACGC	0.423																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AF151866	CCDS7459.1	10q24	2004-03-26			ENSG00000171311	ENSG00000171311			17286	protein-coding gene	gene with protein product	"""CSL4 exosomal core protein homolog (yeast)"""	606493				11812149, 11719186	Standard	XR_246092		Approved	hCsl4p, Csl4p, CSL4, Ski4p, SKI4, CGI-108, p13	uc001kni.3	Q9Y3B2	OTTHUMG00000018854	ENST00000370902.3:c.*94A>C	10.37:g.99196108T>G			B2R9B3|Q5JTH3	RNA	SNP	-	NULL	ENST00000370902.3	37	NULL	CCDS7459.1	10																																																																																			EXOSC1	-	-	ENSG00000171311		0.423	EXOSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC1	HGNC	protein_coding	OTTHUMT00000049680.1	41	0.00	0	T			99196108	99196108	-1	no_errors	ENST00000464440	ensembl	human	known	69_37n	rna	17	72.73	48	SNP	0.000	G
EXOSC2	23404	genome.wustl.edu	37	9	133569210	133569210	+	Missense_Mutation	SNP	G	G	C	rs202001690		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr9:133569210G>C	ENST00000372358.5	+	1	103	c.32G>C	c.(31-33)cGc>cCc	p.R11P	EXOSC2_ENST00000372351.3_Missense_Mutation_p.R11P|EXOSC2_ENST00000372352.3_Missense_Mutation_p.R11P|EXOSC2_ENST00000546165.1_Missense_Mutation_p.R11P			Q13868	EXOS2_HUMAN	exosome component 2	11					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		CCAGTGGCTCGCAAGCCTCTT	0.587																																					Pancreas(134;1683 1824 10118 27928 31640)	dbGAP											0													33.0	33.0	33.0					9																	133569210		2201	4299	6500	-	-	-	SO:0001583	missense	0			AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.32G>C	9.37:g.133569210G>C	ENSP00000361433:p.Arg11Pro		A3KFL3|B4DKK6|Q9NUY4	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.R11P	ENST00000372358.5	37	c.32	CCDS6935.1	9	.	.	.	.	.	.	.	.	.	.	G	20.2	3.950566	0.73787	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372351;ENST00000372350;ENST00000495699	.	.	.	6.06	6.06	0.98353	.	0.199231	0.43579	D	0.000553	T	0.57740	0.2074	L	0.55481	1.735	0.43476	D	0.995695	B;D	0.53312	0.051;0.959	B;P	0.45881	0.012;0.496	T	0.61282	-0.7094	9	0.62326	D	0.03	-21.9848	12.8575	0.57894	0.0736:0.0:0.9264:0.0	.	11;11	B4DKK6;Q13868	.;EXOS2_HUMAN	P	11	.	ENSP00000361425:R11P	R	+	2	0	EXOSC2	132559031	0.994000	0.37717	0.924000	0.36721	0.379000	0.30106	3.806000	0.55583	2.882000	0.98803	0.655000	0.94253	CGC	EXOSC2	-	NULL	ENSG00000130713		0.587	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC2	HGNC	protein_coding	OTTHUMT00000054673.1	23	0.00	0	G	NM_014285		133569210	133569210	+1	no_errors	ENST00000372358	ensembl	human	known	69_37n	missense	11	69.44	25	SNP	0.990	C
FAM103A1	83640	genome.wustl.edu	37	15	83658665	83658665	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr15:83658665A>G	ENST00000304191.3	+	4	424	c.203A>G	c.(202-204)gAc>gGc	p.D68G	C15orf40_ENST00000538348.2_Intron|RP11-382A20.5_ENST00000566841.1_RNA	NM_031452.3	NP_113640.1	Q9BTL3	RAM_HUMAN	family with sequence similarity 103, member A1	68	RNA-binding.				7-methylguanosine mRNA capping (GO:0006370)|methylation (GO:0032259)|recruitment of mRNA capping enzyme to RNA polymerase II holoenzyme complex (GO:0036031)	mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.D68G(1)		prostate(1)	1						AGAGGCAGGGACAACAGATGG	0.433																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											49.0	48.0	48.0					15																	83658665		2203	4300	6503	-	-	-	SO:0001583	missense	0			CR597724	CCDS10321.1	15q25.2	2012-06-13			ENSG00000169612	ENSG00000169612			31022	protein-coding gene	gene with protein product	"""RNMT-activating mini protein"""	614547				22099306	Standard	NM_031452		Approved	HsT19360, C15orf18, MGC2560, RAM	uc002bjl.2	Q9BTL3	OTTHUMG00000147357	ENST00000304191.3:c.203A>G	15.37:g.83658665A>G	ENSP00000307181:p.Asp68Gly		Q2M1J8	Missense_Mutation	SNP	NULL	p.D68G	ENST00000304191.3	37	c.203	CCDS10321.1	15	.	.	.	.	.	.	.	.	.	.	A	16.87	3.243316	0.58995	.	.	ENSG00000169612	ENST00000304191	.	.	.	5.46	5.46	0.80206	.	0.179150	0.48286	D	0.000183	T	0.51686	0.1689	L	0.57536	1.79	0.80722	D	1	B	0.32101	0.356	B	0.31337	0.128	T	0.51466	-0.8702	9	0.33940	T	0.23	-30.2898	10.6965	0.45903	0.9235:0.0:0.0765:0.0	.	68	Q9BTL3	F103A_HUMAN	G	68	.	ENSP00000307181:D68G	D	+	2	0	FAM103A1	81449669	0.999000	0.42202	0.425000	0.26659	0.805000	0.45488	4.578000	0.60929	2.062000	0.61559	0.533000	0.62120	GAC	FAM103A1	-	NULL	ENSG00000169612		0.433	FAM103A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM103A1	HGNC	protein_coding	OTTHUMT00000304001.1	158	0.00	0	A	NM_031452		83658665	83658665	+1	no_errors	ENST00000304191	ensembl	human	known	69_37n	missense	124	28.32	49	SNP	0.968	G
FAM47C	442444	genome.wustl.edu	37	X	37029580	37029580	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chrX:37029580G>T	ENST00000358047.3	+	1	3149	c.3097G>T	c.(3097-3099)Gaa>Taa	p.E1033*		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	1033										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGATGCATCGGAAGAAGATTA	0.393																																						dbGAP											0													94.0	78.0	83.0					X																	37029580		2202	4300	6502	-	-	-	SO:0001587	stop_gained	0			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.3097G>T	X.37:g.37029580G>T	ENSP00000367913:p.Glu1033*		Q6ZU46	Nonsense_Mutation	SNP	NULL	p.E1033*	ENST00000358047.3	37	c.3097	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018325	0.75275	.	.	ENSG00000198173	ENST00000358047	.	.	.	0.694	-0.329	0.12686	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	.	.	.	.	.	.	.	X	1033	.	ENSP00000367913:E1033X	E	+	1	0	FAM47C	36939501	0.014000	0.17966	0.001000	0.08648	0.028000	0.11728	0.771000	0.26633	-0.225000	0.09913	0.292000	0.19580	GAA	FAM47C	-	NULL	ENSG00000198173		0.393	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	105	0.00	0	G	NM_001013736		37029580	37029580	+1	no_errors	ENST00000358047	ensembl	human	known	69_37n	nonsense	25	10.71	3	SNP	0.001	T
FANCD2	2177	genome.wustl.edu	37	3	10119819	10119819	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr3:10119819C>T	ENST00000419585.1	+	30	3075	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	FANCD2_ENST00000287647.3_Missense_Mutation_p.L972F|FANCD2_ENST00000383807.1_Missense_Mutation_p.L972F|FANCD2_ENST00000383806.1_Missense_Mutation_p.L972F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	972					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCTGGAAGATCTCTCCCAGAA	0.502			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													162.0	155.0	157.0					3																	10119819		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2914C>T	3.37:g.10119819C>T	ENSP00000398754:p.Leu972Phe		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L972F	ENST00000419585.1	37	c.2914	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935316	0.73442	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.54	5.54	0.83059	.	0.159125	0.53938	D	0.000045	T	0.72890	0.3517	M	0.76002	2.32	0.30993	N	0.721171	D;D	0.89917	0.999;1.0	D;D	0.77004	0.984;0.989	T	0.75459	-0.3310	10	0.72032	D	0.01	.	17.0489	0.86513	0.0:1.0:0.0:0.0	.	972;972	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	F	972	ENSP00000287647:L972F;ENSP00000373318:L972F;ENSP00000373317:L972F;ENSP00000398754:L972F	ENSP00000287647:L972F	L	+	1	0	FANCD2	10094819	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.838000	0.39211	2.627000	0.88993	0.460000	0.39030	CTC	FANCD2	-	NULL	ENSG00000144554		0.502	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	163	0.00	0	C			10119819	10119819	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	151	59.08	218	SNP	1.000	T
FANCD2	2177	genome.wustl.edu	37	3	10119819	10119819	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr3:10119819C>T	ENST00000419585.1	+	30	3075	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	FANCD2_ENST00000287647.3_Missense_Mutation_p.L972F|FANCD2_ENST00000383807.1_Missense_Mutation_p.L972F|FANCD2_ENST00000383806.1_Missense_Mutation_p.L972F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	972					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCTGGAAGATCTCTCCCAGAA	0.502			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													162.0	155.0	157.0					3																	10119819		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2914C>T	3.37:g.10119819C>T	ENSP00000398754:p.Leu972Phe		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L972F	ENST00000419585.1	37	c.2914	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935316	0.73442	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.54	5.54	0.83059	.	0.159125	0.53938	D	0.000045	T	0.72890	0.3517	M	0.76002	2.32	0.30993	N	0.721171	D;D	0.89917	0.999;1.0	D;D	0.77004	0.984;0.989	T	0.75459	-0.3310	10	0.72032	D	0.01	.	17.0489	0.86513	0.0:1.0:0.0:0.0	.	972;972	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	F	972	ENSP00000287647:L972F;ENSP00000373318:L972F;ENSP00000373317:L972F;ENSP00000398754:L972F	ENSP00000287647:L972F	L	+	1	0	FANCD2	10094819	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.838000	0.39211	2.627000	0.88993	0.460000	0.39030	CTC	FANCD2	-	NULL	ENSG00000144554		0.502	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	60	0.00	0	C			10119819	10119819	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	19	55.81	24	SNP	1.000	T
FANCD2	2177	genome.wustl.edu	37	3	10119819	10119819	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:10119819C>T	ENST00000419585.1	+	30	3075	c.2914C>T	c.(2914-2916)Ctc>Ttc	p.L972F	FANCD2_ENST00000287647.3_Missense_Mutation_p.L972F|FANCD2_ENST00000383807.1_Missense_Mutation_p.L972F|FANCD2_ENST00000383806.1_Missense_Mutation_p.L972F			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	972					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCTGGAAGATCTCTCCCAGAA	0.502			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													dbGAP	yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	0													162.0	155.0	157.0					3																	10119819		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.2914C>T	3.37:g.10119819C>T	ENSP00000398754:p.Leu972Phe		Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L972F	ENST00000419585.1	37	c.2914	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.935316	0.73442	.	.	ENSG00000144554	ENST00000287647;ENST00000383807;ENST00000383806;ENST00000419585	T;T;T;T	0.57107	0.42;0.42;0.42;0.42	5.54	5.54	0.83059	.	0.159125	0.53938	D	0.000045	T	0.72890	0.3517	M	0.76002	2.32	0.30993	N	0.721171	D;D	0.89917	0.999;1.0	D;D	0.77004	0.984;0.989	T	0.75459	-0.3310	10	0.72032	D	0.01	.	17.0489	0.86513	0.0:1.0:0.0:0.0	.	972;972	Q9BXW9-2;Q9BXW9	.;FACD2_HUMAN	F	972	ENSP00000287647:L972F;ENSP00000373318:L972F;ENSP00000373317:L972F;ENSP00000398754:L972F	ENSP00000287647:L972F	L	+	1	0	FANCD2	10094819	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.838000	0.39211	2.627000	0.88993	0.460000	0.39030	CTC	FANCD2	-	NULL	ENSG00000144554		0.502	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	234	0.00	0	C			10119819	10119819	+1	no_errors	ENST00000287647	ensembl	human	known	69_37n	missense	151	59.08	218	SNP	1.000	T
LINC00898	400932	genome.wustl.edu	37	22	48023225	48023225	+	lincRNA	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr22:48023225C>A	ENST00000380990.1	-	0	2343					NR_033377.1				long intergenic non-protein coding RNA 898																		CTCCCAGCAACCATGCTGCAG	0.567																																						dbGAP											0																																										-	-	-			0					22q13.31	2013-05-17			ENSG00000205634	ENSG00000205634		"""Long non-coding RNAs"""	48581	non-coding RNA	RNA, long non-coding							Standard	NR_033377		Approved				OTTHUMG00000150323		22.37:g.48023225C>A				RNA	SNP	-	NULL	ENST00000380990.1	37	NULL		22																																																																																			RP11-191L9.6	-	-	ENSG00000205634		0.567	LINC00898-001	KNOWN	basic	lincRNA	FLJ46257	Clone_based_vega_gene	lincRNA	OTTHUMT00000317560.1	44	0.00	0	C			48023225	48023225	-1	no_errors	ENST00000380990	ensembl	human	known	69_37n	rna	21	32.26	10	SNP	0.000	A
GINM1	116254	genome.wustl.edu	37	6	149903595	149903595	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:149903595A>G	ENST00000367419.5	+	7	858	c.737A>G	c.(736-738)gAa>gGa	p.E246G		NM_138785.3	NP_620140.1	Q9NU53	GINM1_HUMAN	glycoprotein integral membrane 1	246						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAGTGGATGGAAAAGTTTAGA	0.343																																						dbGAP											0													177.0	179.0	178.0					6																	149903595		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC014320	CCDS5216.1	6q24.3	2012-07-20	2012-07-20	2012-07-20	ENSG00000055211	ENSG00000055211			21074	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 72"""	C6orf72			Standard	NM_138785		Approved	dJ12G14.2	uc003qmq.1	Q9NU53	OTTHUMG00000015789	ENST00000367419.5:c.737A>G	6.37:g.149903595A>G	ENSP00000356389:p.Glu246Gly		B2RDY7|E1P5A2	Missense_Mutation	SNP	NULL	p.E246G	ENST00000367419.5	37	c.737	CCDS5216.1	6	.	.	.	.	.	.	.	.	.	.	A	23.9	4.474909	0.84640	.	.	ENSG00000055211	ENST00000367419	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.72285	0.3441	M	0.71581	2.175	0.54753	D	0.999989	D	0.89917	1.0	D	0.87578	0.998	T	0.73959	-0.3818	8	.	.	.	-22.4292	14.6283	0.68638	1.0:0.0:0.0:0.0	.	246	Q9NU53	CF072_HUMAN	G	246	.	.	E	+	2	0	C6orf72	149945288	1.000000	0.71417	0.940000	0.37924	0.999000	0.98932	7.080000	0.76837	2.251000	0.74343	0.533000	0.62120	GAA	GINM1	-	NULL	ENSG00000055211		0.343	GINM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINM1	HGNC	protein_coding	OTTHUMT00000042644.1	309	0.64	2	A	NM_138785		149903595	149903595	+1	no_errors	ENST00000367419	ensembl	human	known	69_37n	missense	288	16.38	57	SNP	0.995	G
GLRA2	2742	genome.wustl.edu	37	X	14599357	14599357	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:14599357C>G	ENST00000218075.4	+	4	853	c.323C>G	c.(322-324)gCg>gGg	p.A108G	GLRA2_ENST00000355020.4_Missense_Mutation_p.A108G|GLRA2_ENST00000443437.2_Missense_Mutation_p.A19G	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	108					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)|synapse assembly (GO:0007416)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)|Lindane(DB00431)	TCACGGCTGGCGTACAGTGAG	0.483													C|||	367	0.0972185	0.0386	0.0951	3775	,	,		14374	0.129		0.1143	False		,,,				2504	0.0051					dbGAP											0													124.0	114.0	117.0					X																	14599357		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14160.1, CCDS48085.1, CCDS55371.1	Xp22.2	2012-02-07			ENSG00000101958	ENSG00000101958		"""Ligand-gated ion channels / Glycine receptors"""	4327	protein-coding gene	gene with protein product		305990		GLR			Standard	NM_002063		Approved		uc010nep.3	P23416	OTTHUMG00000021166	ENST00000218075.4:c.323C>G	X.37:g.14599357C>G	ENSP00000218075:p.Ala108Gly		A8K0J6|B2R6I8|B7Z4F5|J3KQ59|Q53YX7|Q6ICQ0|Q99862	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel	p.A108G	ENST00000218075.4	37	c.323	CCDS14160.1	X	.	.	.	.	.	.	.	.	.	.	C	21.0	4.078293	0.76528	.	.	ENSG00000101958	ENST00000443437;ENST00000218075;ENST00000355020;ENST00000415367	T;T;T;T	0.80304	-1.36;-1.36;-1.36;-1.36	5.72	5.72	0.89469	Neurotransmitter-gated ion-channel ligand-binding (3);	0.052089	0.85682	D	0.000000	D	0.87943	0.6305	M	0.74258	2.255	0.80722	D	1	P;B;B	0.44877	0.845;0.093;0.271	P;B;B	0.54372	0.75;0.161;0.275	D	0.88632	0.3170	10	0.66056	D	0.02	.	18.8728	0.92322	0.0:1.0:0.0:0.0	.	92;108;108	B7Z4E9;P23416;P23416-2	.;GLRA2_HUMAN;.	G	19;108;108;92	ENSP00000387756:A19G;ENSP00000218075:A108G;ENSP00000347123:A108G;ENSP00000391606:A92G	ENSP00000218075:A108G	A	+	2	0	GLRA2	14509278	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.701000	0.84566	2.404000	0.81709	0.600000	0.82982	GCG	GLRA2	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	ENSG00000101958		0.483	GLRA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GLRA2	HGNC	protein_coding	OTTHUMT00000055829.1	122	0.00	0	C			14599357	14599357	+1	no_errors	ENST00000218075	ensembl	human	known	69_37n	missense	85	39.44	56	SNP	1.000	G
GLRA4	441509	genome.wustl.edu	37	X	102962392	102962392	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:102962392C>A	ENST00000372617.4	-	9	1554	c.1134G>T	c.(1132-1134)ttG>ttT	p.L378F		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	378						cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|glycine binding (GO:0016594)|transmitter-gated ion channel activity (GO:0022824)			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GGCAGTGGCCCAAGCCATAGC	0.498																																						dbGAP											0													86.0	83.0	84.0					X																	102962392		1908	4105	6013	-	-	-	SO:0001583	missense	0			Z93848	CCDS43980.2	Xq22.2	2012-01-16			ENSG00000188828	ENSG00000188828		"""Ligand-gated ion channels / Glycine receptors"""	31715	protein-coding gene	gene with protein product							Standard	NM_001024452		Approved		uc011mse.2	Q5JXX5	OTTHUMG00000022110	ENST00000372617.4:c.1134G>T	X.37:g.102962392C>A	ENSP00000361700:p.Leu378Phe			Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel	p.L378F	ENST00000372617.4	37	c.1134	CCDS43980.2	X	.	.	.	.	.	.	.	.	.	.	c	15.73	2.919940	0.52653	.	.	ENSG00000188828	ENST00000372617	D	0.84516	-1.86	5.62	1.7	0.24286	Neurotransmitter-gated ion-channel transmembrane domain (1);	0.000000	0.64402	D	0.000001	T	0.72898	0.3518	N	0.19112	0.55	0.44918	D	0.997938	P	0.39831	0.69	B	0.41510	0.359	T	0.65768	-0.6088	10	0.62326	D	0.03	.	4.7527	0.13068	0.1631:0.5663:0.0:0.2706	.	378	Q5JXX5	GLRA4_HUMAN	F	378	ENSP00000361700:L378F	ENSP00000361700:L378F	L	-	3	2	GLRA4	102849048	0.962000	0.33011	0.997000	0.53966	0.993000	0.82548	0.186000	0.16978	-0.094000	0.12374	0.544000	0.68410	TTG	GLRA4	-	superfamily_Neurotrans-gated_channel_TM	ENSG00000188828		0.498	GLRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRA4	HGNC	protein_coding	OTTHUMT00000057742.2	169	0.00	0	C	NM_001024452		102962392	102962392	-1	no_errors	ENST00000372617	ensembl	human	known	69_37n	missense	98	28.99	40	SNP	1.000	A
GOLGA6L2	283685	genome.wustl.edu	37	15	23685307	23685307	+	Missense_Mutation	SNP	G	G	C	rs373681793		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr15:23685307G>C	ENST00000567107.1	-	8	2367	c.2315C>G	c.(2314-2316)gCa>gGa	p.A772G	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						atcttctcttgctgctcctgc	0.567																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2315C>G	15.37:g.23685307G>C	ENSP00000454407:p.Ala772Gly		A1L301	Missense_Mutation	SNP	NULL	p.A772G	ENST00000567107.1	37	c.2315		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.567	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	12	0.00	0	G	NM_182561		23685307	23685307	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	missense	6	66.67	12	SNP	0.022	C
GPR1	2825	genome.wustl.edu	37	2	207041683	207041683	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:207041683C>T	ENST00000407325.2	-	3	651	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	GPR1_ENST00000437420.1_Missense_Mutation_p.V97M	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	97					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCATGGCCACATAGGAGATG	0.473																																						dbGAP											0													131.0	127.0	128.0					2																	207041683		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.289G>A	2.37:g.207041683C>T	ENSP00000384345:p.Val97Met		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_ATII_rcpt	p.V97M	ENST00000407325.2	37	c.289	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640985	0.47153	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.84	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.204898	0.42420	N	0.000705	T	0.31389	0.0795	L	0.33710	1.025	0.45056	D	0.998073	P	0.47762	0.9	P	0.45794	0.493	T	0.03130	-1.1069	10	0.46703	T	0.11	.	10.3243	0.43783	0.0:0.7918:0.0:0.2082	.	97	P46091	GPR1_HUMAN	M	97	ENSP00000384345:V97M;ENSP00000397535:V97M;ENSP00000414836:V97M;ENSP00000391146:V97M;ENSP00000414524:V97M	ENSP00000384345:V97M	V	-	1	0	GPR1	206749928	0.894000	0.30519	0.985000	0.45067	0.601000	0.36947	2.026000	0.41069	0.829000	0.34733	0.650000	0.86243	GTG	GPR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_ATII_rcpt	ENSG00000183671		0.473	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	HGNC	protein_coding	OTTHUMT00000256394.2	72	0.00	0	C	NM_001098199		207041683	207041683	-1	no_errors	ENST00000407325	ensembl	human	known	69_37n	missense	77	28.70	31	SNP	0.994	T
GPR1	2825	genome.wustl.edu	37	2	207041683	207041683	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:207041683C>T	ENST00000407325.2	-	3	651	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	GPR1_ENST00000437420.1_Missense_Mutation_p.V97M	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	97					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCATGGCCACATAGGAGATG	0.473																																						dbGAP											0													131.0	127.0	128.0					2																	207041683		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2368.1	2q33.3	2014-01-30			ENSG00000183671	ENSG00000183671		"""GPCR / Class A : Orphans"""	4463	protein-coding gene	gene with protein product		600239				7851889	Standard	NM_005279		Approved		uc031rqv.1	P46091	OTTHUMG00000132894	ENST00000407325.2:c.289G>A	2.37:g.207041683C>T	ENSP00000384345:p.Val97Met		A5JUU6|A8K4L1|Q53TR9|Q6NVX4	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_GPR1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Frt_met_rcpt,prints_ATII_rcpt	p.V97M	ENST00000407325.2	37	c.289	CCDS2368.1	2	.	.	.	.	.	.	.	.	.	.	C	14.79	2.640985	0.47153	.	.	ENSG00000183671	ENST00000407325;ENST00000437420;ENST00000442134;ENST00000451790;ENST00000447845	T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18	5.84	4.06	0.47325	GPCR, rhodopsin-like superfamily (1);	0.204898	0.42420	N	0.000705	T	0.31389	0.0795	L	0.33710	1.025	0.45056	D	0.998073	P	0.47762	0.9	P	0.45794	0.493	T	0.03130	-1.1069	10	0.46703	T	0.11	.	10.3243	0.43783	0.0:0.7918:0.0:0.2082	.	97	P46091	GPR1_HUMAN	M	97	ENSP00000384345:V97M;ENSP00000397535:V97M;ENSP00000414836:V97M;ENSP00000391146:V97M;ENSP00000414524:V97M	ENSP00000384345:V97M	V	-	1	0	GPR1	206749928	0.894000	0.30519	0.985000	0.45067	0.601000	0.36947	2.026000	0.41069	0.829000	0.34733	0.650000	0.86243	GTG	GPR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Frt_met_rcpt,prints_ATII_rcpt	ENSG00000183671		0.473	GPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR1	HGNC	protein_coding	OTTHUMT00000256394.2	29	0.00	0	C	NM_001098199		207041683	207041683	-1	no_errors	ENST00000407325	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.994	T
GPR141	353345	genome.wustl.edu	37	7	37780129	37780129	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr7:37780129T>C	ENST00000447769.1	+	4	423	c.134T>C	c.(133-135)aTg>aCg	p.M45T	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.M45T			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGTGAAAATGAACACCCGG	0.498																																						dbGAP											0													107.0	109.0	108.0					7																	37780129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.134T>C	7.37:g.37780129T>C	ENSP00000390410:p.Met45Thr		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M45T	ENST00000447769.1	37	c.134	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342934	0.24339	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.36340	1.26;1.26;1.26	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.238019	0.43260	D	0.000589	T	0.29652	0.0740	L	0.53249	1.67	0.80722	D	1	B	0.31383	0.321	B	0.28465	0.09	T	0.07868	-1.0750	10	0.20519	T	0.43	-37.4474	8.959	0.35836	0.0:0.0851:0.0:0.9149	.	45	Q7Z602	GP141_HUMAN	T	45	ENSP00000396300:M45T;ENSP00000390410:M45T;ENSP00000334540:M45T	ENSP00000334540:M45T	M	+	2	0	GPR141	37746654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.276000	0.43408	2.082000	0.62665	0.528000	0.53228	ATG	GPR141	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187037		0.498	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	105	0.00	0	T	NM_181791		37780129	37780129	+1	no_errors	ENST00000334425	ensembl	human	known	69_37n	missense	299	20.42	77	SNP	1.000	C
GPR141	353345	genome.wustl.edu	37	7	37780129	37780129	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr7:37780129T>C	ENST00000447769.1	+	4	423	c.134T>C	c.(133-135)aTg>aCg	p.M45T	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.M45T			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGTGAAAATGAACACCCGG	0.498																																						dbGAP											0													107.0	109.0	108.0					7																	37780129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.134T>C	7.37:g.37780129T>C	ENSP00000390410:p.Met45Thr		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M45T	ENST00000447769.1	37	c.134	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342934	0.24339	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.36340	1.26;1.26;1.26	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.238019	0.43260	D	0.000589	T	0.29652	0.0740	L	0.53249	1.67	0.80722	D	1	B	0.31383	0.321	B	0.28465	0.09	T	0.07868	-1.0750	10	0.20519	T	0.43	-37.4474	8.959	0.35836	0.0:0.0851:0.0:0.9149	.	45	Q7Z602	GP141_HUMAN	T	45	ENSP00000396300:M45T;ENSP00000390410:M45T;ENSP00000334540:M45T	ENSP00000334540:M45T	M	+	2	0	GPR141	37746654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.276000	0.43408	2.082000	0.62665	0.528000	0.53228	ATG	GPR141	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187037		0.498	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	56	0.00	0	T	NM_181791		37780129	37780129	+1	no_errors	ENST00000334425	ensembl	human	known	69_37n	missense	47	24.19	15	SNP	1.000	C
GPR141	353345	genome.wustl.edu	37	7	37780129	37780129	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr7:37780129T>C	ENST00000447769.1	+	4	423	c.134T>C	c.(133-135)aTg>aCg	p.M45T	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.M45T			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGTGAAAATGAACACCCGG	0.498																																						dbGAP											0													107.0	109.0	108.0					7																	37780129		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY288420	CCDS5451.1	7p14.1	2012-08-21			ENSG00000187037	ENSG00000187037		"""GPCR / Class A : Orphans"""	19997	protein-coding gene	gene with protein product		609045				12679517, 14623098	Standard	NM_181791		Approved	PGR13	uc003tfm.1	Q7Z602	OTTHUMG00000102105	ENST00000447769.1:c.134T>C	7.37:g.37780129T>C	ENSP00000390410:p.Met45Thr		A4D1X7|Q0VAR5|Q86SP3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.M45T	ENST00000447769.1	37	c.134	CCDS5451.1	7	.	.	.	.	.	.	.	.	.	.	T	10.41	1.342934	0.24339	.	.	ENSG00000187037	ENST00000450180;ENST00000447769;ENST00000334425	T;T;T	0.36340	1.26;1.26;1.26	5.18	5.18	0.71444	GPCR, rhodopsin-like superfamily (1);	0.238019	0.43260	D	0.000589	T	0.29652	0.0740	L	0.53249	1.67	0.80722	D	1	B	0.31383	0.321	B	0.28465	0.09	T	0.07868	-1.0750	10	0.20519	T	0.43	-37.4474	8.959	0.35836	0.0:0.0851:0.0:0.9149	.	45	Q7Z602	GP141_HUMAN	T	45	ENSP00000396300:M45T;ENSP00000390410:M45T;ENSP00000334540:M45T	ENSP00000334540:M45T	M	+	2	0	GPR141	37746654	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.276000	0.43408	2.082000	0.62665	0.528000	0.53228	ATG	GPR141	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000187037		0.498	GPR141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR141	HGNC	protein_coding	OTTHUMT00000219943.2	134	0.74	1	T	NM_181791		37780129	37780129	+1	no_errors	ENST00000334425	ensembl	human	known	69_37n	missense	299	20.42	77	SNP	1.000	C
GPR98	84059	genome.wustl.edu	37	5	90087073	90087073	+	Missense_Mutation	SNP	A	A	C	rs147475501		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr5:90087073A>C	ENST00000405460.2	+	70	14523	c.14427A>C	c.(14425-14427)gaA>gaC	p.E4809D	GPR98_ENST00000425867.2_Missense_Mutation_p.E470D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4809					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCATAAAGAACAGCCGATTG	0.453																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14427A>C	5.37:g.90087073A>C	ENSP00000384582:p.Glu4809Asp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4809D	ENST00000405460.2	37	c.14427	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945045	0.34283	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35789	1.29;1.29	5.72	-0.779	0.10973	.	0.311831	0.38897	N	0.001538	T	0.19005	0.0456	L	0.35723	1.085	0.23896	N	0.996534	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.13407	0.003;0.002;0.009	T	0.10405	-1.0631	10	0.17369	T	0.5	.	2.3873	0.04369	0.3282:0.1471:0.397:0.1277	.	470;4809;470	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	D	4809;4809;470	ENSP00000384582:E4809D;ENSP00000392618:E470D	ENSP00000296619:E4809D	E	+	3	2	GPR98	90122829	0.907000	0.30839	0.127000	0.21898	0.588000	0.36517	0.688000	0.25422	0.144000	0.18951	-0.290000	0.09829	GAA	GPR98	-	NULL	ENSG00000164199		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	100	0.00	0	A	NM_032119		90087073	90087073	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	89	23.93	28	SNP	0.909	C
GPR98	84059	genome.wustl.edu	37	5	90087073	90087073	+	Missense_Mutation	SNP	A	A	C	rs147475501		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:90087073A>C	ENST00000405460.2	+	70	14523	c.14427A>C	c.(14425-14427)gaA>gaC	p.E4809D	GPR98_ENST00000425867.2_Missense_Mutation_p.E470D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4809					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATCATAAAGAACAGCCGATTG	0.453																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.14427A>C	5.37:g.90087073A>C	ENSP00000384582:p.Glu4809Asp		O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E4809D	ENST00000405460.2	37	c.14427	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	12.46	1.945045	0.34283	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.35789	1.29;1.29	5.72	-0.779	0.10973	.	0.311831	0.38897	N	0.001538	T	0.19005	0.0456	L	0.35723	1.085	0.23896	N	0.996534	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.13407	0.003;0.002;0.009	T	0.10405	-1.0631	10	0.17369	T	0.5	.	2.3873	0.04369	0.3282:0.1471:0.397:0.1277	.	470;4809;470	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	D	4809;4809;470	ENSP00000384582:E4809D;ENSP00000392618:E470D	ENSP00000296619:E4809D	E	+	3	2	GPR98	90122829	0.907000	0.30839	0.127000	0.21898	0.588000	0.36517	0.688000	0.25422	0.144000	0.18951	-0.290000	0.09829	GAA	GPR98	-	NULL	ENSG00000164199		0.453	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	114	0.00	0	A	NM_032119		90087073	90087073	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	missense	89	23.93	28	SNP	0.909	C
GUCY2F	2986	genome.wustl.edu	37	X	108619137	108619137	+	Missense_Mutation	SNP	G	G	T	rs202106035		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:108619137G>T	ENST00000218006.2	-	19	3609	c.3318C>A	c.(3316-3318)aaC>aaA	p.N1106K		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	1106					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTATGGCTTGTTTCTCACCA	0.517																																						dbGAP											0													180.0	143.0	156.0					X																	108619137		2203	4300	6503	-	-	-	SO:0001583	missense	0			L37378	CCDS14545.1	Xq22	2008-08-01			ENSG00000101890	ENSG00000101890			4691	protein-coding gene	gene with protein product	"""guanylate cyclase 2D-like, membrane (retina-specific)"""	300041				8838319, 7777544	Standard	NM_001522		Approved	GUC2DL, GC-F, RetGC-2, ROS-GC2, CYGF	uc004eod.4	P51841	OTTHUMG00000022184	ENST00000218006.2:c.3318C>A	X.37:g.108619137G>T	ENSP00000218006:p.Asn1106Lys		Q9UJF1	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.N1106K	ENST00000218006.2	37	c.3318	CCDS14545.1	X	.	.	.	.	.	.	.	.	.	.	G	7.695	0.691847	0.15039	.	.	ENSG00000101890	ENST00000218006	T	0.78126	-1.15	4.37	0.172	0.15031	.	0.452641	0.24520	N	0.037811	T	0.34774	0.0909	N	0.00583	-1.355	0.33456	D	0.58426	B	0.11235	0.004	B	0.10450	0.005	T	0.45542	-0.9254	10	0.02654	T	1	.	4.4481	0.11607	0.5054:0.1759:0.3187:0.0	.	1106	P51841	GUC2F_HUMAN	K	1106	ENSP00000218006:N1106K	ENSP00000218006:N1106K	N	-	3	2	GUCY2F	108505793	0.953000	0.32496	0.994000	0.49952	0.994000	0.84299	-0.055000	0.11807	-0.116000	0.11893	0.594000	0.82650	AAC	GUCY2F	-	NULL	ENSG00000101890		0.517	GUCY2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2F	HGNC	protein_coding	OTTHUMT00000057884.1	225	0.88	2	G	NM_001522		108619137	108619137	-1	no_errors	ENST00000218006	ensembl	human	known	69_37n	missense	153	32.30	73	SNP	0.998	T
H3F3B	3021	genome.wustl.edu	37	17	73774801	73774803	+	Splice_Site	DEL	CCT	CCT	-			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr17:73774801_73774803delCCT	ENST00000254810.4	-	4	416_418	c.284_286delAGG	c.(283-288)gaggct>gct	p.E95del	H3F3B_ENST00000589599.1_Splice_Site_p.E95del|H3F3B_ENST00000591890.1_Splice_Site_p.91_92GG>G|H3F3B_ENST00000592643.1_Splice_Site_p.R71del|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_Splice_Site_p.E95del|H3F3B_ENST00000587560.1_Splice_Site_p.E95del	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	95					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCGCTAGCCTCCTGTTGAGG	0.596																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.283-1AGG>-	17.37:g.73774804_73774806delCCT			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	In_Frame_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E95in_frame_del	ENST00000254810.4	37	c.286_284	CCDS11729.1	17																																																																																			H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000132475		0.596	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	126	0.00	0	CCT	NM_005324	In_Frame_Del	73774801	73774803	-1	no_errors	ENST00000254810	ensembl	human	known	69_37n	in_frame_del	226	13.97	38	DEL	1.000:1.000:1.000	-
H3F3B	3021	genome.wustl.edu	37	17	73774801	73774803	+	Splice_Site	DEL	CCT	CCT	-			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr17:73774801_73774803delCCT	ENST00000254810.4	-	4	416_418	c.284_286delAGG	c.(283-288)gaggct>gct	p.E95del	H3F3B_ENST00000589599.1_Splice_Site_p.E95del|H3F3B_ENST00000591890.1_Splice_Site_p.91_92GG>G|H3F3B_ENST00000592643.1_Splice_Site_p.R71del|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_Splice_Site_p.E95del|H3F3B_ENST00000587560.1_Splice_Site_p.E95del	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	95					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCGCTAGCCTCCTGTTGAGG	0.596																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.283-1AGG>-	17.37:g.73774804_73774806delCCT			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	In_Frame_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E95in_frame_del	ENST00000254810.4	37	c.286_284	CCDS11729.1	17																																																																																			H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000132475		0.596	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	126	0.00	0	CCT	NM_005324	In_Frame_Del	73774801	73774803	-1	no_errors	ENST00000254810	ensembl	human	known	69_37n	in_frame_del	226	13.97	38	DEL	1.000:1.000:1.000	-
H3F3B	3021	genome.wustl.edu	37	17	73774801	73774803	+	Splice_Site	DEL	CCT	CCT	-			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr17:73774801_73774803delCCT	ENST00000254810.4	-	4	416_418	c.284_286delAGG	c.(283-288)gaggct>gct	p.E95del	H3F3B_ENST00000589599.1_Splice_Site_p.E95del|H3F3B_ENST00000591890.1_Splice_Site_p.91_92GG>G|H3F3B_ENST00000592643.1_Splice_Site_p.R71del|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000586607.1_Splice_Site_p.E95del|H3F3B_ENST00000587560.1_Splice_Site_p.E95del	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	95					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTTCGCTAGCCTCCTGTTGAGG	0.596																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.283-1AGG>-	17.37:g.73774804_73774806delCCT			P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	In_Frame_Del	DEL	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.E95in_frame_del	ENST00000254810.4	37	c.286_284	CCDS11729.1	17																																																																																			H3F3B	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000132475		0.596	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H3F3B	HGNC	protein_coding	OTTHUMT00000448499.1	49	0.00	0	CCT	NM_005324	In_Frame_Del	73774801	73774803	-1	no_errors	ENST00000254810	ensembl	human	known	69_37n	in_frame_del	31	22.50	9	DEL	1.000:1.000:1.000	-
HEATR5A	25938	genome.wustl.edu	37	14	31785054	31785054	+	Silent	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr14:31785054T>C	ENST00000389961.3	-	26	4121	c.4122A>G	c.(4120-4122)ggA>ggG	p.G1374G	HEATR5A_ENST00000543095.2_Silent_p.G1380G|HEATR5A_ENST00000439348.1_Silent_p.G1374G|HEATR5A_ENST00000439727.1_Silent_p.G1087G			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1374										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGCTTCTTTTCCAGCCTGTA	0.393																																						dbGAP											0													55.0	50.0	52.0					14																	31785054		1837	4091	5928	-	-	-	SO:0001819	synonymous_variant	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4122A>G	14.37:g.31785054T>C			Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1008G	ENST00000389961.3	37	c.3023		14	.	.	.	.	.	.	.	.	.	.	T	9.644	1.139652	0.21205	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.39	4.03	0.46877	.	.	.	.	.	T	0.61438	0.2347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59920	-0.7363	4	.	.	.	.	11.2359	0.48940	0.0:0.1298:0.0:0.8702	.	.	.	.	G	1008	.	.	E	-	2	0	HEATR5A	30854805	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.604000	0.24164	2.047000	0.60756	0.460000	0.39030	GAA	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.393	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		117	0.00	0	T	NM_015473		31785054	31785054	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538864	ensembl	human	novel	69_37n	missense	93	17.70	20	SNP	1.000	C
HEATR5A	25938	genome.wustl.edu	37	14	31785054	31785054	+	Silent	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr14:31785054T>C	ENST00000389961.3	-	26	4121	c.4122A>G	c.(4120-4122)ggA>ggG	p.G1374G	HEATR5A_ENST00000543095.2_Silent_p.G1380G|HEATR5A_ENST00000439348.1_Silent_p.G1374G|HEATR5A_ENST00000439727.1_Silent_p.G1087G			Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	1374										breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGCTTCTTTTCCAGCCTGTA	0.393																																						dbGAP											0													55.0	50.0	52.0					14																	31785054		1837	4091	5928	-	-	-	SO:0001819	synonymous_variant	0			AB037737		14q12	2012-04-19	2007-01-02	2007-01-02	ENSG00000129493	ENSG00000129493			20276	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 125"""	C14orf125			Standard	NM_015473		Approved	DKFZP434I1735	uc001wrf.4	Q86XA9	OTTHUMG00000169043	ENST00000389961.3:c.4122A>G	14.37:g.31785054T>C			Q68DD8|Q6P3S5|Q6P5R9|Q9H8D7|Q9NXB7|Q9P2N0|Q9UFQ3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1008G	ENST00000389961.3	37	c.3023		14	.	.	.	.	.	.	.	.	.	.	T	9.644	1.139652	0.21205	.	.	ENSG00000129493	ENST00000538864	.	.	.	5.39	4.03	0.46877	.	.	.	.	.	T	0.61438	0.2347	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.59920	-0.7363	4	.	.	.	.	11.2359	0.48940	0.0:0.1298:0.0:0.8702	.	.	.	.	G	1008	.	.	E	-	2	0	HEATR5A	30854805	0.999000	0.42202	1.000000	0.80357	0.991000	0.79684	0.604000	0.24164	2.047000	0.60756	0.460000	0.39030	GAA	HEATR5A	-	superfamily_ARM-type_fold	ENSG00000129493		0.393	HEATR5A-201	KNOWN	basic|appris_candidate	protein_coding	HEATR5A	HGNC	protein_coding		115	0.00	0	T	NM_015473		31785054	31785054	-1	pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000538864	ensembl	human	novel	69_37n	missense	93	17.70	20	SNP	1.000	C
HECA	51696	genome.wustl.edu	37	6	139487770	139487770	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:139487770C>T	ENST00000367658.2	+	2	906	c.621C>T	c.(619-621)tcC>tcT	p.S207S	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	207					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGTCTGGCTCCGAGAAGAACA	0.592																																						dbGAP											0													40.0	46.0	44.0					6																	139487770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.621C>T	6.37:g.139487770C>T				Silent	SNP	superfamily_Glycoside_hydrolase_SF	p.S207	ENST00000367658.2	37	c.621	CCDS5194.1	6																																																																																			HECA	-	NULL	ENSG00000112406		0.592	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	17	0.00	0	C	NM_016217		139487770	139487770	+1	no_errors	ENST00000367658	ensembl	human	known	69_37n	silent	46	20.34	12	SNP	0.000	T
HECA	51696	genome.wustl.edu	37	6	139487770	139487770	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr6:139487770C>T	ENST00000367658.2	+	2	906	c.621C>T	c.(619-621)tcC>tcT	p.S207S	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	207					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGTCTGGCTCCGAGAAGAACA	0.592																																						dbGAP											0													40.0	46.0	44.0					6																	139487770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.621C>T	6.37:g.139487770C>T				Silent	SNP	superfamily_Glycoside_hydrolase_SF	p.S207	ENST00000367658.2	37	c.621	CCDS5194.1	6																																																																																			HECA	-	NULL	ENSG00000112406		0.592	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	36	0.00	0	C	NM_016217		139487770	139487770	+1	no_errors	ENST00000367658	ensembl	human	known	69_37n	silent	33	31.25	15	SNP	0.000	T
HECA	51696	genome.wustl.edu	37	6	139487770	139487770	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr6:139487770C>T	ENST00000367658.2	+	2	906	c.621C>T	c.(619-621)tcC>tcT	p.S207S	RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000591102.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	207					respiratory tube development (GO:0030323)	membrane (GO:0016020)				endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGTCTGGCTCCGAGAAGAACA	0.592																																						dbGAP											0													40.0	46.0	44.0					6																	139487770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB033492	CCDS5194.1	6q23-q24	2010-11-25			ENSG00000112406	ENSG00000112406			21041	protein-coding gene	gene with protein product		607977				11696983, 19643820	Standard	NM_016217		Approved	HDCL, hHDC, HDC, dJ225E12.1	uc003qin.3	Q9UBI9	OTTHUMG00000015686	ENST00000367658.2:c.621C>T	6.37:g.139487770C>T				Silent	SNP	superfamily_Glycoside_hydrolase_SF	p.S207	ENST00000367658.2	37	c.621	CCDS5194.1	6																																																																																			HECA	-	NULL	ENSG00000112406		0.592	HECA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECA	HGNC	protein_coding	OTTHUMT00000042456.1	18	0.00	0	C	NM_016217		139487770	139487770	+1	no_errors	ENST00000367658	ensembl	human	known	69_37n	silent	46	20.34	12	SNP	0.000	T
HERC2P3	283755	genome.wustl.edu	37	15	20588345	20588345	+	RNA	SNP	C	C	T	rs111358953		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr15:20588345C>T	ENST00000428453.1	-	0	4383							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGGTGGAACCTAAAGGAAT	0.408																																						dbGAP											0																																										-	-	-			0			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20588345C>T				RNA	SNP	-	NULL	ENST00000428453.1	37	NULL		15																																																																																			HERC2P3	-	-	ENSG00000180229		0.408	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P3	HGNC	pseudogene	OTTHUMT00000347772.2	11	0.00	0	C	NG_008269		20588345	20588345	-1	no_errors	ENST00000426501	ensembl	human	known	69_37n	rna	38	17.39	8	SNP	0.012	T
HMCN1	83872	genome.wustl.edu	37	1	186121949	186121949	+	Silent	SNP	C	C	A	rs146508581		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:186121949C>A	ENST00000271588.4	+	96	15193	c.14964C>A	c.(14962-14964)atC>atA	p.I4988I	HMCN1_ENST00000367492.2_Silent_p.I4988I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4988	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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						TGCTAGATATCGTTGTGAGTG	0.428																																						dbGAP											0													241.0	210.0	221.0					1																	186121949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.14964C>A	1.37:g.186121949C>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	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.I4988	ENST00000271588.4	37	c.14964	CCDS30956.1	1																																																																																			HMCN1	-	pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000143341		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	289	0.00	0	C	NM_031935		186121949	186121949	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	725	16.72	146	SNP	0.006	A
HMCN1	83872	genome.wustl.edu	37	1	186121949	186121949	+	Silent	SNP	C	C	A	rs146508581		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:186121949C>A	ENST00000271588.4	+	96	15193	c.14964C>A	c.(14962-14964)atC>atA	p.I4988I	HMCN1_ENST00000367492.2_Silent_p.I4988I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4988	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				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						TGCTAGATATCGTTGTGAGTG	0.428																																						dbGAP											0													241.0	210.0	221.0					1																	186121949		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	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.14964C>A	1.37:g.186121949C>A			A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Silent	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.I4988	ENST00000271588.4	37	c.14964	CCDS30956.1	1																																																																																			HMCN1	-	pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F	ENSG00000143341		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	354	0.84	3	C	NM_031935		186121949	186121949	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	silent	725	16.72	146	SNP	0.006	A
HPSE2	60495	genome.wustl.edu	37	10	100503739	100503739	+	Missense_Mutation	SNP	G	G	A	rs539208193		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr10:100503739G>A	ENST00000370552.3	-	4	744	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.R229C|HPSE2_ENST00000370549.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	229					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGATTACGACGCAGTGCATTT	0.453																																						dbGAP											0													116.0	110.0	112.0					10																	100503739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.685C>T	10.37:g.100503739G>A	ENSP00000359583:p.Arg229Cys		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R229C	ENST00000370552.3	37	c.685	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651575	0.88056	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.30182	1.54;1.54	5.68	4.78	0.61160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119284	0.64402	N	0.000020	T	0.35828	0.0945	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57846	0.736;0.828	T	0.11251	-1.0595	10	0.38643	T	0.18	-0.5444	15.0139	0.71570	0.0685:0.0:0.9315:0.0	.	229;229	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	C	229	ENSP00000359583:R229C;ENSP00000359577:R229C	ENSP00000359577:R229C	R	-	1	0	HPSE2	100493729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.311000	0.72835	1.547000	0.49401	0.591000	0.81541	CGT	HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.453	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	178	0.00	0	G	NM_021828		100503739	100503739	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	missense	136	39.56	89	SNP	1.000	A
HPSE2	60495	genome.wustl.edu	37	10	100503739	100503739	+	Missense_Mutation	SNP	G	G	A	rs539208193		TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr10:100503739G>A	ENST00000370552.3	-	4	744	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.R229C|HPSE2_ENST00000370549.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	229					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGATTACGACGCAGTGCATTT	0.453																																						dbGAP											0													116.0	110.0	112.0					10																	100503739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.685C>T	10.37:g.100503739G>A	ENSP00000359583:p.Arg229Cys		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R229C	ENST00000370552.3	37	c.685	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651575	0.88056	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.30182	1.54;1.54	5.68	4.78	0.61160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119284	0.64402	N	0.000020	T	0.35828	0.0945	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57846	0.736;0.828	T	0.11251	-1.0595	10	0.38643	T	0.18	-0.5444	15.0139	0.71570	0.0685:0.0:0.9315:0.0	.	229;229	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	C	229	ENSP00000359583:R229C;ENSP00000359577:R229C	ENSP00000359577:R229C	R	-	1	0	HPSE2	100493729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.311000	0.72835	1.547000	0.49401	0.591000	0.81541	CGT	HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.453	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	52	0.00	0	G	NM_021828		100503739	100503739	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	missense	19	52.50	21	SNP	1.000	A
HPSE2	60495	genome.wustl.edu	37	10	100503739	100503739	+	Missense_Mutation	SNP	G	G	A	rs539208193		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr10:100503739G>A	ENST00000370552.3	-	4	744	c.685C>T	c.(685-687)Cgt>Tgt	p.R229C	HPSE2_ENST00000404542.1_Intron|HPSE2_ENST00000370546.1_Missense_Mutation_p.R229C|HPSE2_ENST00000370549.1_Intron	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2 (inactive)	229					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	heparan sulfate proteoglycan binding (GO:0043395)|heparanase activity (GO:0030305)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		GGATTACGACGCAGTGCATTT	0.453																																						dbGAP											0													116.0	110.0	112.0					10																	100503739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF282885	CCDS7477.1, CCDS53567.1, CCDS53568.1	10q23-q24	2014-05-09	2014-05-09		ENSG00000172987	ENSG00000172987			18374	protein-coding gene	gene with protein product		613469	"""urofacial syndrome"", ""heparanase 2"""	UFS		11027606, 20605132, 9199567, 20576607	Standard	NM_021828		Approved	HPA2, HPR2	uc001kpn.2	Q8WWQ2	OTTHUMG00000018880	ENST00000370552.3:c.685C>T	10.37:g.100503739G>A	ENSP00000359583:p.Arg229Cys		Q5VUH4|Q5VUH5|Q5VUH6|Q8WWQ1|Q9HB37|Q9HB38|Q9HB39	Missense_Mutation	SNP	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	p.R229C	ENST00000370552.3	37	c.685	CCDS7477.1	10	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651575	0.88056	.	.	ENSG00000172987	ENST00000370552;ENST00000370546	T;T	0.30182	1.54;1.54	5.68	4.78	0.61160	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.119284	0.64402	N	0.000020	T	0.35828	0.0945	N	0.22421	0.69	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.57846	0.736;0.828	T	0.11251	-1.0595	10	0.38643	T	0.18	-0.5444	15.0139	0.71570	0.0685:0.0:0.9315:0.0	.	229;229	Q8WWQ2-2;Q8WWQ2	.;HPSE2_HUMAN	C	229	ENSP00000359583:R229C;ENSP00000359577:R229C	ENSP00000359577:R229C	R	-	1	0	HPSE2	100493729	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.311000	0.72835	1.547000	0.49401	0.591000	0.81541	CGT	HPSE2	-	pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF	ENSG00000172987		0.453	HPSE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HPSE2	HGNC	protein_coding	OTTHUMT00000049789.1	185	0.54	1	G	NM_021828		100503739	100503739	-1	no_errors	ENST00000370552	ensembl	human	known	69_37n	missense	136	39.56	89	SNP	1.000	A
HTATSF1	27336	genome.wustl.edu	37	X	135592323	135592323	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:135592323G>C	ENST00000218364.4	+	8	1181	c.1007G>C	c.(1006-1008)tGg>tCg	p.W336S	HTATSF1_ENST00000535601.1_Missense_Mutation_p.W336S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GATGGAAGATGGTTTGGTGGC	0.468																																						dbGAP											0													211.0	191.0	198.0					X																	135592323		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1007G>C	X.37:g.135592323G>C	ENSP00000218364:p.Trp336Ser		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.W336S	ENST00000218364.4	37	c.1007	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376732	0.82682	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.05513	3.43;3.43	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00577	-1.1662	10	0.87932	D	0	-0.9307	17.991	0.89169	0.0:0.0:1.0:0.0	.	336	O43719	HTSF1_HUMAN	S	336	ENSP00000442699:W336S;ENSP00000218364:W336S	ENSP00000218364:W336S	W	+	2	0	HTATSF1	135419989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.396000	0.97270	2.183000	0.69458	0.538000	0.68166	TGG	HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102241		0.468	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	168	0.00	0	G	NM_014500		135592323	135592323	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	missense	41	57.29	55	SNP	1.000	C
HTATSF1	27336	genome.wustl.edu	37	X	135592323	135592323	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chrX:135592323G>C	ENST00000218364.4	+	8	1181	c.1007G>C	c.(1006-1008)tGg>tCg	p.W336S	HTATSF1_ENST00000535601.1_Missense_Mutation_p.W336S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GATGGAAGATGGTTTGGTGGC	0.468																																						dbGAP											0													211.0	191.0	198.0					X																	135592323		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1007G>C	X.37:g.135592323G>C	ENSP00000218364:p.Trp336Ser		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.W336S	ENST00000218364.4	37	c.1007	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376732	0.82682	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.05513	3.43;3.43	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00577	-1.1662	10	0.87932	D	0	-0.9307	17.991	0.89169	0.0:0.0:1.0:0.0	.	336	O43719	HTSF1_HUMAN	S	336	ENSP00000442699:W336S;ENSP00000218364:W336S	ENSP00000218364:W336S	W	+	2	0	HTATSF1	135419989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.396000	0.97270	2.183000	0.69458	0.538000	0.68166	TGG	HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102241		0.468	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	87	0.00	0	G	NM_014500		135592323	135592323	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	missense	15	54.55	18	SNP	1.000	C
HTATSF1	27336	genome.wustl.edu	37	X	135592323	135592323	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:135592323G>C	ENST00000218364.4	+	8	1181	c.1007G>C	c.(1006-1008)tGg>tCg	p.W336S	HTATSF1_ENST00000535601.1_Missense_Mutation_p.W336S	NM_014500.4	NP_055315.2	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GATGGAAGATGGTTTGGTGGC	0.468																																						dbGAP											0													211.0	191.0	198.0					X																	135592323		2203	4300	6503	-	-	-	SO:0001583	missense	0			U76992	CCDS14657.1	Xq26.3	2013-02-12	2006-01-09		ENSG00000102241	ENSG00000102241		"""RNA binding motif (RRM) containing"""	5276	protein-coding gene	gene with protein product		300346	"""HIV TAT specific factor 1"""			8849451	Standard	NM_014500		Approved	TAT-SF1	uc004ezx.3	O43719	OTTHUMG00000022510	ENST00000218364.4:c.1007G>C	X.37:g.135592323G>C	ENSP00000218364:p.Trp336Ser		D3DWG9|Q59G06|Q99730	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.W336S	ENST00000218364.4	37	c.1007	CCDS14657.1	X	.	.	.	.	.	.	.	.	.	.	G	23.1	4.376732	0.82682	.	.	ENSG00000102241	ENST00000535601;ENST00000218364;ENST00000415377	T;T	0.05513	3.43;3.43	5.26	5.26	0.73747	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	M	0.64170	1.965	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.00577	-1.1662	10	0.87932	D	0	-0.9307	17.991	0.89169	0.0:0.0:1.0:0.0	.	336	O43719	HTSF1_HUMAN	S	336	ENSP00000442699:W336S;ENSP00000218364:W336S	ENSP00000218364:W336S	W	+	2	0	HTATSF1	135419989	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.396000	0.97270	2.183000	0.69458	0.538000	0.68166	TGG	HTATSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000102241		0.468	HTATSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTATSF1	HGNC	protein_coding	OTTHUMT00000058497.1	167	0.00	0	G	NM_014500		135592323	135592323	+1	no_errors	ENST00000218364	ensembl	human	known	69_37n	missense	41	57.29	55	SNP	1.000	C
IGSF9B	22997	genome.wustl.edu	37	11	133791086	133791086	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr11:133791086G>A	ENST00000321016.8	-	18	2764	c.2534C>T	c.(2533-2535)aCg>aTg	p.T845M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T845M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	845					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGGGCGTGGTGGCCTC	0.642																																						dbGAP											0													67.0	72.0	70.0					11																	133791086		2162	4252	6414	-	-	-	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2534C>T	11.37:g.133791086G>A	ENSP00000317980:p.Thr845Met		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T845M	ENST00000321016.8	37	c.2534		11	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850047	0.51270	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.46145	D	0.000318	T	0.76321	0.3971	L	0.51422	1.61	0.51012	D	0.999907	D	0.89917	1.0	D	0.65233	0.933	T	0.78505	-0.2178	10	0.56958	D	0.05	.	16.9242	0.86172	0.0:0.0:1.0:0.0	.	845	Q9UPX0	TUTLB_HUMAN	M	845;687	ENSP00000317980:T845M;ENSP00000436552:T687M	ENSP00000317980:T845M	T	-	2	0	IGSF9B	133296296	1.000000	0.71417	0.980000	0.43619	0.386000	0.30323	9.222000	0.95196	2.320000	0.78422	0.561000	0.74099	ACG	IGSF9B	-	NULL	ENSG00000080854		0.642	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		27	0.00	0	G	XM_290502		133791086	133791086	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	missense	64	37.25	38	SNP	1.000	A
IGSF9B	22997	genome.wustl.edu	37	11	133791086	133791086	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr11:133791086G>A	ENST00000321016.8	-	18	2764	c.2534C>T	c.(2533-2535)aCg>aTg	p.T845M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T845M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	845					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGGGCGTGGTGGCCTC	0.642																																						dbGAP											0													67.0	72.0	70.0					11																	133791086		2162	4252	6414	-	-	-	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2534C>T	11.37:g.133791086G>A	ENSP00000317980:p.Thr845Met		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T845M	ENST00000321016.8	37	c.2534		11	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850047	0.51270	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.46145	D	0.000318	T	0.76321	0.3971	L	0.51422	1.61	0.51012	D	0.999907	D	0.89917	1.0	D	0.65233	0.933	T	0.78505	-0.2178	10	0.56958	D	0.05	.	16.9242	0.86172	0.0:0.0:1.0:0.0	.	845	Q9UPX0	TUTLB_HUMAN	M	845;687	ENSP00000317980:T845M;ENSP00000436552:T687M	ENSP00000317980:T845M	T	-	2	0	IGSF9B	133296296	1.000000	0.71417	0.980000	0.43619	0.386000	0.30323	9.222000	0.95196	2.320000	0.78422	0.561000	0.74099	ACG	IGSF9B	-	NULL	ENSG00000080854		0.642	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		42	0.00	0	G	XM_290502		133791086	133791086	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	missense	20	28.57	8	SNP	1.000	A
IGSF9B	22997	genome.wustl.edu	37	11	133791086	133791086	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:133791086G>A	ENST00000321016.8	-	18	2764	c.2534C>T	c.(2533-2535)aCg>aTg	p.T845M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.T845M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	845					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		CTCGATGGGCGTGGTGGCCTC	0.642																																						dbGAP											0													67.0	72.0	70.0					11																	133791086		2162	4252	6414	-	-	-	SO:0001583	missense	0			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2534C>T	11.37:g.133791086G>A	ENSP00000317980:p.Thr845Met		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T845M	ENST00000321016.8	37	c.2534		11	.	.	.	.	.	.	.	.	.	.	G	15.49	2.850047	0.51270	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.46145	D	0.000318	T	0.76321	0.3971	L	0.51422	1.61	0.51012	D	0.999907	D	0.89917	1.0	D	0.65233	0.933	T	0.78505	-0.2178	10	0.56958	D	0.05	.	16.9242	0.86172	0.0:0.0:1.0:0.0	.	845	Q9UPX0	TUTLB_HUMAN	M	845;687	ENSP00000317980:T845M;ENSP00000436552:T687M	ENSP00000317980:T845M	T	-	2	0	IGSF9B	133296296	1.000000	0.71417	0.980000	0.43619	0.386000	0.30323	9.222000	0.95196	2.320000	0.78422	0.561000	0.74099	ACG	IGSF9B	-	NULL	ENSG00000080854		0.642	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		50	0.00	0	G	XM_290502		133791086	133791086	-1	no_errors	ENST00000321016	ensembl	human	known	69_37n	missense	64	37.25	38	SNP	1.000	A
IL21R	50615	genome.wustl.edu	37	16	27441412	27441412	+	Missense_Mutation	SNP	C	C	T	rs559469718		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr16:27441412C>T	ENST00000337929.3	+	2	493	c.20C>T	c.(19-21)gCc>gTc	p.A7V	IL21R_ENST00000395754.4_Missense_Mutation_p.A7V|IL21R_ENST00000564089.1_Missense_Mutation_p.A7V|IL21R_ENST00000395755.1_Missense_Mutation_p.A7V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	7					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCTGGGCCGCCCCCTTGCTC	0.721			T	BCL6	NHL																																	dbGAP		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													19.0	20.0	20.0					16																	27441412		2194	4295	6489	-	-	-	SO:0001583	missense	0			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.20C>T	16.37:g.27441412C>T	ENSP00000338010:p.Ala7Val		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.A7V	ENST00000337929.3	37	c.20	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344774	0.24426	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.56611	0.45;0.45;0.45	3.81	0.836	0.18891	.	1.297220	0.05078	N	0.482940	T	0.46795	0.1411	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30475	-0.9977	10	0.38643	T	0.18	-15.1226	5.8717	0.18807	0.0:0.6615:0.0:0.3385	.	7	Q9HBE5	IL21R_HUMAN	V	7	ENSP00000338010:A7V;ENSP00000379104:A7V;ENSP00000379103:A7V	ENSP00000338010:A7V	A	+	2	0	IL21R	27348913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.050000	0.03510	0.222000	0.20900	-0.143000	0.13931	GCC	IL21R	-	NULL	ENSG00000103522		0.721	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	HGNC	protein_coding	OTTHUMT00000254578.2	14	0.00	0	C	NM_181078		27441412	27441412	+1	no_errors	ENST00000337929	ensembl	human	known	69_37n	missense	16	67.35	33	SNP	0.000	T
IL21R	50615	genome.wustl.edu	37	16	27441412	27441412	+	Missense_Mutation	SNP	C	C	T	rs559469718		TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr16:27441412C>T	ENST00000337929.3	+	2	493	c.20C>T	c.(19-21)gCc>gTc	p.A7V	IL21R_ENST00000395754.4_Missense_Mutation_p.A7V|IL21R_ENST00000564089.1_Missense_Mutation_p.A7V|IL21R_ENST00000395755.1_Missense_Mutation_p.A7V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	7					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCTGGGCCGCCCCCTTGCTC	0.721			T	BCL6	NHL																																	dbGAP		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													19.0	20.0	20.0					16																	27441412		2194	4295	6489	-	-	-	SO:0001583	missense	0			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.20C>T	16.37:g.27441412C>T	ENSP00000338010:p.Ala7Val		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.A7V	ENST00000337929.3	37	c.20	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344774	0.24426	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.56611	0.45;0.45;0.45	3.81	0.836	0.18891	.	1.297220	0.05078	N	0.482940	T	0.46795	0.1411	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30475	-0.9977	10	0.38643	T	0.18	-15.1226	5.8717	0.18807	0.0:0.6615:0.0:0.3385	.	7	Q9HBE5	IL21R_HUMAN	V	7	ENSP00000338010:A7V;ENSP00000379104:A7V;ENSP00000379103:A7V	ENSP00000338010:A7V	A	+	2	0	IL21R	27348913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.050000	0.03510	0.222000	0.20900	-0.143000	0.13931	GCC	IL21R	-	NULL	ENSG00000103522		0.721	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	HGNC	protein_coding	OTTHUMT00000254578.2	58	0.00	0	C	NM_181078		27441412	27441412	+1	no_errors	ENST00000337929	ensembl	human	known	69_37n	missense	29	52.46	32	SNP	0.000	T
IL21R	50615	genome.wustl.edu	37	16	27441412	27441412	+	Missense_Mutation	SNP	C	C	T	rs559469718		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr16:27441412C>T	ENST00000337929.3	+	2	493	c.20C>T	c.(19-21)gCc>gTc	p.A7V	IL21R_ENST00000395754.4_Missense_Mutation_p.A7V|IL21R_ENST00000564089.1_Missense_Mutation_p.A7V|IL21R_ENST00000395755.1_Missense_Mutation_p.A7V	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	7					interleukin-21-mediated signaling pathway (GO:0038114)|natural killer cell activation (GO:0030101)	integral component of membrane (GO:0016021)	interleukin-21 receptor activity (GO:0001532)			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						GGCTGGGCCGCCCCCTTGCTC	0.721			T	BCL6	NHL																																	dbGAP		Dom	yes		16	16p11	50615	interleukin 21 receptor		L	0													19.0	20.0	20.0					16																	27441412		2194	4295	6489	-	-	-	SO:0001583	missense	0			AF254067	CCDS10630.1	16p11	2014-09-17			ENSG00000103522	ENSG00000103522		"""Interleukins and interleukin receptors"", ""CD molecules"""	6006	protein-coding gene	gene with protein product		605383				11081504	Standard	NM_181078		Approved	CD360	uc002dos.2	Q9HBE5	OTTHUMG00000131675	ENST00000337929.3:c.20C>T	16.37:g.27441412C>T	ENSP00000338010:p.Ala7Val		A8K9E8|D3DWF7|Q96HZ1|Q9HB91	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.A7V	ENST00000337929.3	37	c.20	CCDS10630.1	16	.	.	.	.	.	.	.	.	.	.	c	10.42	1.344774	0.24426	.	.	ENSG00000103522	ENST00000337929;ENST00000395755;ENST00000395754	T;T;T	0.56611	0.45;0.45;0.45	3.81	0.836	0.18891	.	1.297220	0.05078	N	0.482940	T	0.46795	0.1411	L	0.54323	1.7	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30475	-0.9977	10	0.38643	T	0.18	-15.1226	5.8717	0.18807	0.0:0.6615:0.0:0.3385	.	7	Q9HBE5	IL21R_HUMAN	V	7	ENSP00000338010:A7V;ENSP00000379104:A7V;ENSP00000379103:A7V	ENSP00000338010:A7V	A	+	2	0	IL21R	27348913	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.050000	0.03510	0.222000	0.20900	-0.143000	0.13931	GCC	IL21R	-	NULL	ENSG00000103522		0.721	IL21R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21R	HGNC	protein_coding	OTTHUMT00000254578.2	14	0.00	0	C	NM_181078		27441412	27441412	+1	no_errors	ENST00000337929	ensembl	human	known	69_37n	missense	16	67.35	33	SNP	0.000	T
IL2RA	3559	genome.wustl.edu	37	10	6067839	6067839	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr10:6067839T>C	ENST00000379959.3	-	2	387	c.214A>G	c.(214-216)Agc>Ggc	p.S72G	RP11-536K7.5_ENST00000440436.1_RNA|IL2RA_ENST00000379954.1_Missense_Mutation_p.S72G|IL2RA_ENST00000256876.6_Missense_Mutation_p.S72G	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	72	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GACGAGTGGCTAGAGTTTCCT	0.468																																						dbGAP											0													113.0	106.0	108.0					10																	6067839		2203	4300	6503	-	-	-	SO:0001583	missense	0			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.214A>G	10.37:g.6067839T>C	ENSP00000369293:p.Ser72Gly		Q5W007	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S72G	ENST00000379959.3	37	c.214	CCDS7076.1	10	.	.	.	.	.	.	.	.	.	.	T	14.40	2.525288	0.44969	.	.	ENSG00000134460	ENST00000379959;ENST00000397240;ENST00000379954;ENST00000256876	T;T;T	0.42131	1.57;0.98;1.57	3.3	0.808	0.18719	Complement control module (2);Sushi/SCR/CCP (3);	0.768736	0.11795	N	0.528787	T	0.48732	0.1516	L	0.47716	1.5	0.09310	N	1	B;P;D	0.69078	0.001;0.592;0.997	B;P;D	0.77004	0.001;0.526;0.989	T	0.34254	-0.9836	10	0.25106	T	0.35	-28.7127	4.7633	0.13118	0.0:0.3254:0.0:0.6746	.	72;58;72	Q5W005;E9PF94;P01589	.;.;IL2RA_HUMAN	G	72;58;72;72	ENSP00000369293:S72G;ENSP00000369287:S72G;ENSP00000256876:S72G	ENSP00000256876:S72G	S	-	1	0	IL2RA	6107845	0.023000	0.18921	0.010000	0.14722	0.130000	0.20726	0.050000	0.14120	0.152000	0.19188	0.477000	0.44152	AGC	IL2RA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP	ENSG00000134460		0.468	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	153	0.00	0	T	NM_000417		6067839	6067839	-1	no_errors	ENST00000379959	ensembl	human	known	69_37n	missense	789	13.11	119	SNP	0.003	C
IRAK3	11213	genome.wustl.edu	37	12	66597504	66597504	+	Silent	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr12:66597504A>C	ENST00000261233.4	+	2	568	c.147A>C	c.(145-147)tcA>tcC	p.S49S	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGAGACTTTCAAGCAGCTGGC	0.353																																						dbGAP											0													61.0	58.0	59.0					12																	66597504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.147A>C	12.37:g.66597504A>C				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.S49	ENST00000261233.4	37	c.147	CCDS8975.1	12																																																																																			IRAK3	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000090376		0.353	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	95	0.00	0	A			66597504	66597504	+1	no_errors	ENST00000261233	ensembl	human	known	69_37n	silent	57	43.56	44	SNP	0.963	C
IRAK3	11213	genome.wustl.edu	37	12	66597504	66597504	+	Silent	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr12:66597504A>C	ENST00000261233.4	+	2	568	c.147A>C	c.(145-147)tcA>tcC	p.S49S	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGAGACTTTCAAGCAGCTGGC	0.353																																						dbGAP											0													61.0	58.0	59.0					12																	66597504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.147A>C	12.37:g.66597504A>C				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.S49	ENST00000261233.4	37	c.147	CCDS8975.1	12																																																																																			IRAK3	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000090376		0.353	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	22	0.00	0	A			66597504	66597504	+1	no_errors	ENST00000261233	ensembl	human	known	69_37n	silent	16	36.00	9	SNP	0.963	C
IRAK3	11213	genome.wustl.edu	37	12	66597504	66597504	+	Silent	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:66597504A>C	ENST00000261233.4	+	2	568	c.147A>C	c.(145-147)tcA>tcC	p.S49S	IRAK3_ENST00000457197.2_Intron	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AGAGACTTTCAAGCAGCTGGC	0.353																																						dbGAP											0													61.0	58.0	59.0					12																	66597504		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.147A>C	12.37:g.66597504A>C				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Death,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom	p.S49	ENST00000261233.4	37	c.147	CCDS8975.1	12																																																																																			IRAK3	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000090376		0.353	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK3	HGNC	protein_coding	OTTHUMT00000401908.1	71	0.00	0	A			66597504	66597504	+1	no_errors	ENST00000261233	ensembl	human	known	69_37n	silent	57	43.56	44	SNP	0.963	C
IRX4	50805	genome.wustl.edu	37	5	1881946	1881946	+	Silent	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:1881946C>G	ENST00000505790.1	-	3	729	c.273G>C	c.(271-273)tcG>tcC	p.S91S	IRX4_ENST00000513692.1_Silent_p.S91S|IRX4_ENST00000231357.2_Silent_p.S91S|IRX4_ENST00000505938.1_5'Flank|CTD-2194D22.3_ENST00000506335.1_RNA	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	91					establishment of organ orientation (GO:0048561)|heart development (GO:0007507)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		CGGACGCCTCCGAGCCGTAGG	0.672																																						dbGAP											0													13.0	15.0	14.0					5																	1881946		2174	4251	6425	-	-	-	SO:0001819	synonymous_variant	0			AF124733	CCDS3867.1, CCDS75225.1	5p15.33	2011-06-20	2007-07-13		ENSG00000113430	ENSG00000113430		"""Homeoboxes / TALE class"""	6129	protein-coding gene	gene with protein product		606199	"""iroquois homeobox protein 4"""			10625552	Standard	NM_016358		Approved		uc003jcz.2	P78413	OTTHUMG00000090411	ENST00000505790.1:c.273G>C	5.37:g.1881946C>G			B2RMW5|D3DTC5|H1AFL0|H1AFL1|Q2NL64|Q9UHR2	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.S91	ENST00000505790.1	37	c.273	CCDS3867.1	5																																																																																			IRX4	-	NULL	ENSG00000113430		0.672	IRX4-004	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	IRX4	HGNC	protein_coding	OTTHUMT00000365500.1	24	0.00	0	C	NM_016358		1881946	1881946	-1	no_errors	ENST00000231357	ensembl	human	known	69_37n	silent	6	64.71	11	SNP	0.085	G
KCNH7	90134	genome.wustl.edu	37	2	163374255	163374255	+	Silent	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:163374255G>T	ENST00000332142.5	-	4	976	c.877C>A	c.(877-879)Cga>Aga	p.R293R	KCNH7_ENST00000328032.4_Silent_p.R293R|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	293					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGGCATGTCGGTCTCTAAAT	0.353																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													84.0	78.0	80.0					2																	163374255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.877C>A	2.37:g.163374255G>T			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.R293	ENST00000332142.5	37	c.877	CCDS2219.1	2																																																																																			KCNH7	-	NULL	ENSG00000184611		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	113	0.00	0	G	NM_033272		163374255	163374255	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	silent	106	36.14	60	SNP	1.000	T
KCNH7	90134	genome.wustl.edu	37	2	163374255	163374255	+	Silent	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:163374255G>T	ENST00000332142.5	-	4	976	c.877C>A	c.(877-879)Cga>Aga	p.R293R	KCNH7_ENST00000328032.4_Silent_p.R293R|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	293					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGGCATGTCGGTCTCTAAAT	0.353																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													84.0	78.0	80.0					2																	163374255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.877C>A	2.37:g.163374255G>T			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.R293	ENST00000332142.5	37	c.877	CCDS2219.1	2																																																																																			KCNH7	-	NULL	ENSG00000184611		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	37	0.00	0	G	NM_033272		163374255	163374255	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	silent	13	40.91	9	SNP	1.000	T
KCNH7	90134	genome.wustl.edu	37	2	163374255	163374255	+	Silent	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:163374255G>T	ENST00000332142.5	-	4	976	c.877C>A	c.(877-879)Cga>Aga	p.R293R	KCNH7_ENST00000328032.4_Silent_p.R293R|KCNH7_ENST00000477019.1_5'UTR	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	293					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CTGGCATGTCGGTCTCTAAAT	0.353																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													84.0	78.0	80.0					2																	163374255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.877C>A	2.37:g.163374255G>T			Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.R293	ENST00000332142.5	37	c.877	CCDS2219.1	2																																																																																			KCNH7	-	NULL	ENSG00000184611		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	119	0.00	0	G	NM_033272		163374255	163374255	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	silent	106	36.14	60	SNP	1.000	T
ITGAV	3685	genome.wustl.edu	37	2	187505659	187505659	+	Silent	SNP	A	A	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:187505659A>T	ENST00000261023.3	+	11	1195	c.921A>T	c.(919-921)ggA>ggT	p.G307G	AC017101.10_ENST00000453665.1_RNA|ITGAV_ENST00000374907.3_Silent_p.G271G|ITGAV_ENST00000433736.2_Silent_p.G261G	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	307					angiogenesis (GO:0001525)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apolipoprotein A-I-mediated signaling pathway (GO:0038027)|apoptotic cell clearance (GO:0043277)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cell adhesion (GO:0007155)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|endodermal cell differentiation (GO:0035987)|entry of symbiont into host cell by promotion of host phagocytosis (GO:0052066)|ERK1 and ERK2 cascade (GO:0070371)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|negative chemotaxis (GO:0050919)|negative regulation of entry of bacterium into host cell (GO:2000536)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of lipid storage (GO:0010888)|negative regulation of lipid transport (GO:0032369)|negative regulation of lipoprotein metabolic process (GO:0050748)|negative regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045715)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast proliferation (GO:0033690)|regulation of apoptotic cell clearance (GO:2000425)|regulation of phagocytosis (GO:0050764)|substrate adhesion-dependent cell spreading (GO:0034446)|viral entry into host cell (GO:0046718)	alphav-beta3 integrin-IGF-1-IGF1R complex (GO:0035867)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|integrin alphav-beta3 complex (GO:0034683)|integrin alphav-beta5 complex (GO:0034684)|integrin alphav-beta8 complex (GO:0034686)|integrin complex (GO:0008305)|lamellipodium membrane (GO:0031258)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	extracellular matrix binding (GO:0050840)|extracellular matrix protein binding (GO:1990430)|fibronectin binding (GO:0001968)|metal ion binding (GO:0046872)|protease binding (GO:0002020)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)	Antithymocyte globulin(DB00098)	CATATTTCGGATTTTCTGTAG	0.284																																					Melanoma(58;108 1995 6081)	dbGAP											0													31.0	32.0	32.0					2																	187505659		2196	4276	6472	-	-	-	SO:0001819	synonymous_variant	0				CCDS2292.1, CCDS46470.1, CCDS46471.1	2q31-q32	2012-04-20	2012-04-20		ENSG00000138448	ENSG00000138448		"""CD molecules"", ""Integrins"""	6150	protein-coding gene	gene with protein product		193210	"""antigen identified by monoclonal antibody L230"", ""vitronectin receptor"", ""integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)"""	VNRA, MSK8, VTNR		2454952	Standard	NM_001144999		Approved	CD51	uc002upq.4	P06756	OTTHUMG00000132635	ENST00000261023.3:c.921A>T	2.37:g.187505659A>T			A0AV67|B0LPF4|B7Z883|B7ZLX0|D3DPG8|E7EWZ6|Q53SK4|Q59EB7|Q6LD15	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.G307	ENST00000261023.3	37	c.921	CCDS2292.1	2																																																																																			ITGAV	-	pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	ENSG00000138448		0.284	ITGAV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAV	HGNC	protein_coding	OTTHUMT00000255882.2	170	0.00	0	A	NM_002210		187505659	187505659	+1	no_errors	ENST00000261023	ensembl	human	known	69_37n	silent	86	26.50	31	SNP	0.988	T
KIAA0226L	80183	genome.wustl.edu	37	13	46942947	46942947	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:46942947G>C	ENST00000429979.1	-	4	1143	c.539C>G	c.(538-540)gCt>gGt	p.A180G	KIAA0226L_ENST00000378787.3_Missense_Mutation_p.A180G|KIAA0226L_ENST00000378781.3_Missense_Mutation_p.A180G|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.A23G|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.A113G|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.A180G|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.A180G|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.A23G|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.A45G	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	180										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						GACTTGAACAGCACCTGCCAA	0.338																																						dbGAP											0													82.0	89.0	87.0					13																	46942947		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.539C>G	13.37:g.46942947G>C	ENSP00000396935:p.Ala180Gly		A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.A180G	ENST00000429979.1	37	c.539	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	13.14	2.149540	0.37923	.	.	ENSG00000102445	ENST00000378781;ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925;ENST00000417405	T;T;T;T;T;T;T;T	0.48201	0.82;0.86;0.85;0.86;0.86;0.85;0.88;0.83	6.17	3.41	0.39046	.	0.417022	0.23062	N	0.052365	T	0.53238	0.1784	L	0.38175	1.15	0.22851	N	0.998653	D;P;P;P;P;P;P	0.76494	0.999;0.682;0.925;0.682;0.877;0.925;0.925	D;B;P;B;B;P;P	0.69479	0.964;0.156;0.691;0.156;0.339;0.54;0.616	T	0.41448	-0.9508	10	0.62326	D	0.03	-2.7621	7.9961	0.30269	0.0726:0.0:0.6336:0.2937	.	180;23;180;23;180;113;180	E7EMA2;B7ZBN5;Q9H714-1;B7Z6E4;Q9H714;Q9H714-3;Q9H714-4	.;.;.;.;K226L_HUMAN;.;.	G	180;180;180;113;180;180;23;23;45;45	ENSP00000368057:A180G;ENSP00000396935:A180G;ENSP00000368074:A180G;ENSP00000368061:A113G;ENSP00000374558:A180G;ENSP00000368064:A180G;ENSP00000437501:A45G;ENSP00000402357:A45G	ENSP00000315633:A23G	A	-	2	0	KIAA0226L	45840948	0.833000	0.29383	0.933000	0.37362	0.725000	0.41563	1.486000	0.35530	0.422000	0.26005	0.655000	0.94253	GCT	KIAA0226L	-	NULL	ENSG00000102445		0.338	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	138	0.00	0	G	NM_025113		46942947	46942947	-1	no_errors	ENST00000389908	ensembl	human	known	69_37n	missense	69	53.38	79	SNP	0.655	C
KIAA1033	23325	genome.wustl.edu	37	12	105521008	105521008	+	Silent	SNP	T	T	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:105521008T>A	ENST00000332180.5	+	13	1227	c.1140T>A	c.(1138-1140)ctT>ctA	p.L380L		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAAAAAGTCTTCAAGCCATTA	0.333																																						dbGAP											0													62.0	65.0	64.0					12																	105521008		1808	4067	5875	-	-	-	SO:0001819	synonymous_variant	0			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.1140T>A	12.37:g.105521008T>A				Silent	SNP	NULL	p.L380	ENST00000332180.5	37	c.1140	CCDS41826.1	12																																																																																			KIAA1033	-	NULL	ENSG00000136051		0.333	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	136	0.00	0	T	NM_015275		105521008	105521008	+1	no_errors	ENST00000332180	ensembl	human	known	69_37n	silent	56	41.58	42	SNP	1.000	A
KIAA1211	57482	genome.wustl.edu	37	4	57181827	57181827	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:57181827C>G	ENST00000504228.1	+	6	2264	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S713C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S720C			Q6ZU35	K1211_HUMAN	KIAA1211	720										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCAAAGTTCTCTATTATGCCT	0.567																																						dbGAP											0													65.0	74.0	71.0					4																	57181827		1959	4148	6107	-	-	-	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2159C>G	4.37:g.57181827C>G	ENSP00000423366:p.Ser720Cys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.S720C	ENST00000504228.1	37	c.2159	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373379	0.82573	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02916	4.11;4.11;4.11	4.58	4.58	0.56647	.	.	.	.	.	T	0.14960	0.0361	M	0.71581	2.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	T	0.00455	-1.1729	9	0.87932	D	0	-14.9749	17.5686	0.87928	0.0:1.0:0.0:0.0	.	713;713;720	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	C	720;720;713;630	ENSP00000264229:S720C;ENSP00000423366:S720C;ENSP00000444006:S713C	ENSP00000264229:S720C	S	+	2	0	KIAA1211	56876584	1.000000	0.71417	0.935000	0.37517	0.828000	0.46876	7.132000	0.77251	2.365000	0.80145	0.555000	0.69702	TCT	KIAA1211	-	NULL	ENSG00000109265		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	36	0.00	0	C	NM_020722		57181827	57181827	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	missense	52	31.58	24	SNP	1.000	G
KIAA1211	57482	genome.wustl.edu	37	4	57181827	57181827	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr4:57181827C>G	ENST00000504228.1	+	6	2264	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S713C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S720C			Q6ZU35	K1211_HUMAN	KIAA1211	720										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCAAAGTTCTCTATTATGCCT	0.567																																						dbGAP											0													65.0	74.0	71.0					4																	57181827		1959	4148	6107	-	-	-	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2159C>G	4.37:g.57181827C>G	ENSP00000423366:p.Ser720Cys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.S720C	ENST00000504228.1	37	c.2159	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373379	0.82573	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02916	4.11;4.11;4.11	4.58	4.58	0.56647	.	.	.	.	.	T	0.14960	0.0361	M	0.71581	2.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	T	0.00455	-1.1729	9	0.87932	D	0	-14.9749	17.5686	0.87928	0.0:1.0:0.0:0.0	.	713;713;720	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	C	720;720;713;630	ENSP00000264229:S720C;ENSP00000423366:S720C;ENSP00000444006:S713C	ENSP00000264229:S720C	S	+	2	0	KIAA1211	56876584	1.000000	0.71417	0.935000	0.37517	0.828000	0.46876	7.132000	0.77251	2.365000	0.80145	0.555000	0.69702	TCT	KIAA1211	-	NULL	ENSG00000109265		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	49	0.00	0	C	NM_020722		57181827	57181827	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	missense	36	26.53	13	SNP	1.000	G
KIAA1211	57482	genome.wustl.edu	37	4	57181827	57181827	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr4:57181827C>G	ENST00000504228.1	+	6	2264	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	KIAA1211_ENST00000541073.1_Missense_Mutation_p.S713C|KIAA1211_ENST00000264229.6_Missense_Mutation_p.S720C			Q6ZU35	K1211_HUMAN	KIAA1211	720										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCAAAGTTCTCTATTATGCCT	0.567																																						dbGAP											0													65.0	74.0	71.0					4																	57181827		1959	4148	6107	-	-	-	SO:0001583	missense	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2159C>G	4.37:g.57181827C>G	ENSP00000423366:p.Ser720Cys		Q9NTE2|Q9NTP8|Q9ULK9	Missense_Mutation	SNP	NULL	p.S720C	ENST00000504228.1	37	c.2159	CCDS43230.1	4	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373379	0.82573	.	.	ENSG00000109265	ENST00000264229;ENST00000504228;ENST00000541073;ENST00000546221	T;T;T	0.02916	4.11;4.11;4.11	4.58	4.58	0.56647	.	.	.	.	.	T	0.14960	0.0361	M	0.71581	2.175	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.995	T	0.00455	-1.1729	9	0.87932	D	0	-14.9749	17.5686	0.87928	0.0:1.0:0.0:0.0	.	713;713;720	B7ZVZ4;F5H1N7;Q6ZU35	.;.;K1211_HUMAN	C	720;720;713;630	ENSP00000264229:S720C;ENSP00000423366:S720C;ENSP00000444006:S713C	ENSP00000264229:S720C	S	+	2	0	KIAA1211	56876584	1.000000	0.71417	0.935000	0.37517	0.828000	0.46876	7.132000	0.77251	2.365000	0.80145	0.555000	0.69702	TCT	KIAA1211	-	NULL	ENSG00000109265		0.567	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	30	0.00	0	C	NM_020722		57181827	57181827	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	missense	52	31.58	24	SNP	1.000	G
KIAA1211	57482	genome.wustl.edu	37	4	57181864	57181864	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:57181864C>A	ENST00000504228.1	+	6	2301	c.2196C>A	c.(2194-2196)ggC>ggA	p.G732G	KIAA1211_ENST00000541073.1_Silent_p.G725G|KIAA1211_ENST00000264229.6_Silent_p.G732G			Q6ZU35	K1211_HUMAN	KIAA1211	732										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGATGGTGGCACGGAGACCT	0.577																																						dbGAP											0													67.0	78.0	75.0					4																	57181864		1979	4150	6129	-	-	-	SO:0001819	synonymous_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2196C>A	4.37:g.57181864C>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.G732	ENST00000504228.1	37	c.2196	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.577	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	43	0.00	0	C	NM_020722		57181864	57181864	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	silent	60	29.89	26	SNP	0.041	A
KIAA1211	57482	genome.wustl.edu	37	4	57181864	57181864	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr4:57181864C>A	ENST00000504228.1	+	6	2301	c.2196C>A	c.(2194-2196)ggC>ggA	p.G732G	KIAA1211_ENST00000541073.1_Silent_p.G725G|KIAA1211_ENST00000264229.6_Silent_p.G732G			Q6ZU35	K1211_HUMAN	KIAA1211	732										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGATGGTGGCACGGAGACCT	0.577																																						dbGAP											0													67.0	78.0	75.0					4																	57181864		1979	4150	6129	-	-	-	SO:0001819	synonymous_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2196C>A	4.37:g.57181864C>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.G732	ENST00000504228.1	37	c.2196	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.577	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	39	0.00	0	C	NM_020722		57181864	57181864	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	silent	28	36.36	16	SNP	0.041	A
KIAA1211	57482	genome.wustl.edu	37	4	57181864	57181864	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr4:57181864C>A	ENST00000504228.1	+	6	2301	c.2196C>A	c.(2194-2196)ggC>ggA	p.G732G	KIAA1211_ENST00000541073.1_Silent_p.G725G|KIAA1211_ENST00000264229.6_Silent_p.G732G			Q6ZU35	K1211_HUMAN	KIAA1211	732										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGATGGTGGCACGGAGACCT	0.577																																						dbGAP											0													67.0	78.0	75.0					4																	57181864		1979	4150	6129	-	-	-	SO:0001819	synonymous_variant	0			AB033037	CCDS43230.1	4q12	2012-08-03			ENSG00000109265	ENSG00000109265			29219	protein-coding gene	gene with protein product						10574462, 11230166	Standard	NM_020722		Approved		uc003hbk.2	Q6ZU35	OTTHUMG00000160749	ENST00000504228.1:c.2196C>A	4.37:g.57181864C>A			Q9NTE2|Q9NTP8|Q9ULK9	Silent	SNP	NULL	p.G732	ENST00000504228.1	37	c.2196	CCDS43230.1	4																																																																																			KIAA1211	-	NULL	ENSG00000109265		0.577	KIAA1211-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1211	HGNC	protein_coding	OTTHUMT00000362097.2	35	0.00	0	C	NM_020722		57181864	57181864	+1	no_errors	ENST00000504228	ensembl	human	known	69_37n	silent	60	29.89	26	SNP	0.041	A
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240713	39240713	+	Silent	SNP	C	C	T	rs372892145		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr17:39240713C>T	ENST00000391417.4	+	1	255	c.255C>T	c.(253-255)tgC>tgT	p.C85C		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	85	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						ccagctgctgccgccccagct	0.677																																						dbGAP											0													14.0	20.0	18.0					17																	39240713		687	1587	2274	-	-	-	SO:0001819	synonymous_variant	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.255C>T	17.37:g.39240713C>T			A0AVM6|A8MQ08|A8MTL4	Silent	SNP	pfam_Keratin-assoc	p.C85	ENST00000391417.4	37	c.255	CCDS45673.1	17																																																																																			KRTAP4-7	-	NULL	ENSG00000240871		0.677	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	44	0.00	0	C			39240713	39240713	+1	no_errors	ENST00000391417	ensembl	human	known	69_37n	silent	116	11.45	15	SNP	0.556	T
KRT9	3857	genome.wustl.edu	37	17	39728077	39728077	+	Silent	SNP	T	T	C	rs374412374		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr17:39728077T>C	ENST00000246662.4	-	1	233	c.168A>G	c.(166-168)ggA>ggG	p.G56G	KRT9_ENST00000588431.1_Intron	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	56	Head.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CACGAGAGCTTCCCCCACCAT	0.622																																						dbGAP											0													66.0	46.0	53.0					17																	39728077		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.168A>G	17.37:g.39728077T>C			O00109|Q0IJ47|Q14665	Silent	SNP	pfam_F,prints_Keratin_I	p.G56	ENST00000246662.4	37	c.168	CCDS32654.1	17																																																																																			KRT9	-	NULL	ENSG00000171403		0.622	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1	145	0.68	1	T	NM_000226		39728077	39728077	-1	no_errors	ENST00000246662	ensembl	human	known	69_37n	silent	181	27.67	70	SNP	0.000	C
MACF1	23499	genome.wustl.edu	37	1	39951484	39951484	+	3'UTR	SNP	C	C	A	rs376820746|rs200755289	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:39951484C>A	ENST00000372915.3	+	0	22272				MACF1_ENST00000361689.2_3'UTR|MACF1_ENST00000567887.1_3'UTR|MACF1_ENST00000564288.1_3'UTR|MACF1_ENST00000539005.1_3'UTR|MACF1_ENST00000317713.7_3'UTR|MACF1_ENST00000289893.4_3'UTR|MACF1_ENST00000545844.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAGCACCCCCAAGCCACTAT	0.433																																						dbGAP											0													29.0	33.0	32.0					1																	39951484		2200	4291	6491	-	-	-	SO:0001624	3_prime_UTR_variant	0			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.*18C>A	1.37:g.39951484C>A			B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	SNP	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-	ENSG00000127603		0.433	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	36	0.00	0	C	NM_033044		39951484	39951484	+1	no_errors	ENST00000496360	ensembl	human	known	69_37n	rna	21	64.52	40	SNP	0.354	A
LRRC42	115353	genome.wustl.edu	37	1	54417888	54417888	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:54417888C>A	ENST00000371370.3	+	3	737	c.216C>A	c.(214-216)ttC>ttA	p.F72L	LRRC42_ENST00000319223.4_Missense_Mutation_p.F72L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	72										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGATCATTTCATCTTCACAT	0.488																																						dbGAP											0													128.0	117.0	121.0					1																	54417888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.216C>A	1.37:g.54417888C>A	ENSP00000360421:p.Phe72Leu		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.F72L	ENST00000371370.3	37	c.216	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086586	0.76642	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.64	3.75	0.43078	.	0.049403	0.85682	D	0.000000	T	0.62502	0.2433	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.71674	0.996;0.998;0.993	D;D;D	0.80764	0.99;0.994;0.978	T	0.63989	-0.6512	9	0.87932	D	0	-19.198	10.1429	0.42747	0.0:0.7921:0.0:0.2079	.	72;72;72	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	L	72	.	ENSP00000318185:F72L	F	+	3	2	LRRC42	54190476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.605000	0.46283	0.844000	0.35094	0.650000	0.86243	TTC	LRRC42	-	NULL	ENSG00000116212		0.488	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	59	0.00	0	C	NM_052940		54417888	54417888	+1	no_errors	ENST00000319223	ensembl	human	known	69_37n	missense	126	30.39	55	SNP	1.000	A
LRRC42	115353	genome.wustl.edu	37	1	54417888	54417888	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:54417888C>A	ENST00000371370.3	+	3	737	c.216C>A	c.(214-216)ttC>ttA	p.F72L	LRRC42_ENST00000319223.4_Missense_Mutation_p.F72L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	72										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGATCATTTCATCTTCACAT	0.488																																						dbGAP											0													128.0	117.0	121.0					1																	54417888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.216C>A	1.37:g.54417888C>A	ENSP00000360421:p.Phe72Leu		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.F72L	ENST00000371370.3	37	c.216	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086586	0.76642	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.64	3.75	0.43078	.	0.049403	0.85682	D	0.000000	T	0.62502	0.2433	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.71674	0.996;0.998;0.993	D;D;D	0.80764	0.99;0.994;0.978	T	0.63989	-0.6512	9	0.87932	D	0	-19.198	10.1429	0.42747	0.0:0.7921:0.0:0.2079	.	72;72;72	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	L	72	.	ENSP00000318185:F72L	F	+	3	2	LRRC42	54190476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.605000	0.46283	0.844000	0.35094	0.650000	0.86243	TTC	LRRC42	-	NULL	ENSG00000116212		0.488	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	73	0.00	0	C	NM_052940		54417888	54417888	+1	no_errors	ENST00000319223	ensembl	human	known	69_37n	missense	55	20.29	14	SNP	1.000	A
LRRC42	115353	genome.wustl.edu	37	1	54417888	54417888	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:54417888C>A	ENST00000371370.3	+	3	737	c.216C>A	c.(214-216)ttC>ttA	p.F72L	LRRC42_ENST00000319223.4_Missense_Mutation_p.F72L	NM_001256409.1	NP_001243338.1	Q9Y546	LRC42_HUMAN	leucine rich repeat containing 42	72										breast(2)|kidney(1)|large_intestine(1)|lung(5)	9						CTGATCATTTCATCTTCACAT	0.488																																						dbGAP											0													128.0	117.0	121.0					1																	54417888		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK075201	CCDS585.1	1p33-p32.1	2014-02-12			ENSG00000116212	ENSG00000116212			28792	protein-coding gene	gene with protein product						12477932	Standard	NM_001256409		Approved	MGC8974	uc001cwj.2	Q9Y546	OTTHUMG00000008436	ENST00000371370.3:c.216C>A	1.37:g.54417888C>A	ENSP00000360421:p.Phe72Leu		D3DQ46|Q8N2Q8	Missense_Mutation	SNP	NULL	p.F72L	ENST00000371370.3	37	c.216	CCDS585.1	1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.086586	0.76642	.	.	ENSG00000116212	ENST00000371370;ENST00000371368;ENST00000319223;ENST00000444987	.	.	.	5.64	3.75	0.43078	.	0.049403	0.85682	D	0.000000	T	0.62502	0.2433	L	0.29908	0.895	0.58432	D	0.999992	D;D;D	0.71674	0.996;0.998;0.993	D;D;D	0.80764	0.99;0.994;0.978	T	0.63989	-0.6512	9	0.87932	D	0	-19.198	10.1429	0.42747	0.0:0.7921:0.0:0.2079	.	72;72;72	E7EP35;A6NL66;Q9Y546	.;.;LRC42_HUMAN	L	72	.	ENSP00000318185:F72L	F	+	3	2	LRRC42	54190476	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.605000	0.46283	0.844000	0.35094	0.650000	0.86243	TTC	LRRC42	-	NULL	ENSG00000116212		0.488	LRRC42-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LRRC42	HGNC	protein_coding	OTTHUMT00000023250.1	86	0.00	0	C	NM_052940		54417888	54417888	+1	no_errors	ENST00000319223	ensembl	human	known	69_37n	missense	126	30.39	55	SNP	1.000	A
MAGI3	260425	genome.wustl.edu	37	1	114225905	114225905	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:114225905A>C	ENST00000307546.9	+	21	3790	c.3715A>C	c.(3715-3717)Att>Ctt	p.I1239L	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1264					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGATAAGATTCCTAGTCC	0.423																																						dbGAP											0													117.0	112.0	114.0					1																	114225905		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3715A>C	1.37:g.114225905A>C	ENSP00000304604:p.Ile1239Leu		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.I1239L	ENST00000307546.9	37	c.3715	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	A	4.709	0.131761	0.08981	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.49432	0.78	5.66	1.71	0.24356	.	0.588726	0.15993	N	0.234708	T	0.09818	0.0241	N	0.11560	0.145	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.37009	-0.9724	10	0.11485	T	0.65	-18.5419	12.9285	0.58275	0.6133:0.3867:0.0:0.0	.	1239	Q5TCQ9-4	.	L	1239;279	ENSP00000304604:I1239L	ENSP00000304604:I1239L	I	+	1	0	MAGI3	114027428	0.022000	0.18835	0.002000	0.10522	0.012000	0.07955	0.542000	0.23222	0.466000	0.27193	0.528000	0.53228	ATT	MAGI3	-	NULL	ENSG00000081026		0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	82	0.00	0	A	NM_152900		114225905	114225905	+1	no_errors	ENST00000307546	ensembl	human	novel	69_37n	missense	50	35.90	28	SNP	0.002	C
MAGI3	260425	genome.wustl.edu	37	1	114225905	114225905	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:114225905A>C	ENST00000307546.9	+	21	3790	c.3715A>C	c.(3715-3717)Att>Ctt	p.I1239L	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1264					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGATAAGATTCCTAGTCC	0.423																																						dbGAP											0													117.0	112.0	114.0					1																	114225905		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3715A>C	1.37:g.114225905A>C	ENSP00000304604:p.Ile1239Leu		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.I1239L	ENST00000307546.9	37	c.3715	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	A	4.709	0.131761	0.08981	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.49432	0.78	5.66	1.71	0.24356	.	0.588726	0.15993	N	0.234708	T	0.09818	0.0241	N	0.11560	0.145	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.37009	-0.9724	10	0.11485	T	0.65	-18.5419	12.9285	0.58275	0.6133:0.3867:0.0:0.0	.	1239	Q5TCQ9-4	.	L	1239;279	ENSP00000304604:I1239L	ENSP00000304604:I1239L	I	+	1	0	MAGI3	114027428	0.022000	0.18835	0.002000	0.10522	0.012000	0.07955	0.542000	0.23222	0.466000	0.27193	0.528000	0.53228	ATT	MAGI3	-	NULL	ENSG00000081026		0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	18	0.00	0	A	NM_152900		114225905	114225905	+1	no_errors	ENST00000307546	ensembl	human	novel	69_37n	missense	11	50.00	11	SNP	0.002	C
MAGI3	260425	genome.wustl.edu	37	1	114225905	114225905	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:114225905A>C	ENST00000307546.9	+	21	3790	c.3715A>C	c.(3715-3717)Att>Ctt	p.I1239L	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1264					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGATAAGATTCCTAGTCC	0.423																																						dbGAP											0													117.0	112.0	114.0					1																	114225905		1568	3582	5150	-	-	-	SO:0001583	missense	0			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.3715A>C	1.37:g.114225905A>C	ENSP00000304604:p.Ile1239Leu		Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.I1239L	ENST00000307546.9	37	c.3715	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	A	4.709	0.131761	0.08981	.	.	ENSG00000081026	ENST00000307546;ENST00000546156	T	0.49432	0.78	5.66	1.71	0.24356	.	0.588726	0.15993	N	0.234708	T	0.09818	0.0241	N	0.11560	0.145	0.09310	N	0.999998	B	0.02656	0.0	B	0.06405	0.002	T	0.37009	-0.9724	10	0.11485	T	0.65	-18.5419	12.9285	0.58275	0.6133:0.3867:0.0:0.0	.	1239	Q5TCQ9-4	.	L	1239;279	ENSP00000304604:I1239L	ENSP00000304604:I1239L	I	+	1	0	MAGI3	114027428	0.022000	0.18835	0.002000	0.10522	0.012000	0.07955	0.542000	0.23222	0.466000	0.27193	0.528000	0.53228	ATT	MAGI3	-	NULL	ENSG00000081026		0.423	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	93	0.00	0	A	NM_152900		114225905	114225905	+1	no_errors	ENST00000307546	ensembl	human	novel	69_37n	missense	50	35.90	28	SNP	0.002	C
MASP1	5648	genome.wustl.edu	37	3	186978538	186978538	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:186978538T>G	ENST00000337774.5	-	4	927	c.538A>C	c.(538-540)Acc>Ccc	p.T180P	MASP1_ENST00000169293.6_Missense_Mutation_p.T180P|MASP1_ENST00000392472.2_Missense_Mutation_p.T67P|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.T154P|MASP1_ENST00000296280.6_Missense_Mutation_p.T180P	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	180	EGF-like; calcium-binding.|Homodimerization. {ECO:0000250}.|Interaction with FCN2.|Interaction with MBL2.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCTCGGCAGGTCCTGTTGTCT	0.507																																						dbGAP											0													160.0	122.0	135.0					3																	186978538		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.538A>C	3.37:g.186978538T>G	ENSP00000336792:p.Thr180Pro		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6	p.T180P	ENST00000337774.5	37	c.538	CCDS33907.1	3	.	.	.	.	.	.	.	.	.	.	T	25.7	4.668834	0.88348	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470;ENST00000392475	D;D;D;D;D;D	0.97480	-3.02;-3.02;-3.02;-3.02;-3.02;-4.4	5.57	5.57	0.84162	EGF-like region, conserved site (1);EGF-like calcium-binding (2);	0.047224	0.85682	D	0.000000	D	0.98425	0.9476	M	0.85299	2.745	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.998;0.997;0.999;0.998;0.999	D	0.98886	1.0771	10	0.46703	T	0.11	.	15.2194	0.73299	0.0:0.0:0.0:1.0	.	154;180;67;180;180	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	P	180;180;67;67;180;154;187	ENSP00000336792:T180P;ENSP00000296280:T180P;ENSP00000376264:T67P;ENSP00000169293:T180P;ENSP00000376262:T154P;ENSP00000376267:T187P	ENSP00000169293:T180P	T	-	1	0	MASP1	188461232	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.062000	0.71155	2.242000	0.73789	0.528000	0.53228	ACC	MASP1	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	ENSG00000127241		0.507	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MASP1	HGNC	protein_coding	OTTHUMT00000344262.1	158	0.63	1	T	NM_001879		186978538	186978538	-1	no_errors	ENST00000296280	ensembl	human	known	69_37n	missense	149	25.12	51	SNP	1.000	G
MBTPS2	51360	genome.wustl.edu	37	X	21861328	21861328	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:21861328A>G	ENST00000379484.5	+	2	215	c.116A>G	c.(115-117)gAa>gGa	p.E39G	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Missense_Mutation_p.E39G	NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	39					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cholesterol metabolic process (GO:0008203)|endoplasmic reticulum unfolded protein response (GO:0030968)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GACTGGCTGGAAAACAACGGA	0.388																																						dbGAP											0													146.0	141.0	142.0					X																	21861328		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF019612	CCDS14201.1	Xp22.12-p22.11	2014-02-03	2005-08-17		ENSG00000012174	ENSG00000012174			15455	protein-coding gene	gene with protein product		300294	"""membrane-bound transcription factor protease, site 2"", ""keratosis follicularis spinulosa decalvans"""	KFSD		9847074, 9659902, 20672378	Standard	NM_015884		Approved	S2P	uc004dae.3	O43462	OTTHUMG00000021237	ENST00000379484.5:c.116A>G	X.37:g.21861328A>G	ENSP00000368798:p.Glu39Gly		Q9UM70|Q9UMD3	Missense_Mutation	SNP	pfam_Peptidase_M50,superfamily_PDZ,prints_Pept_M50_SREBP	p.E39G	ENST00000379484.5	37	c.116	CCDS14201.1	X	.	.	.	.	.	.	.	.	.	.	A	12.58	1.979996	0.34942	.	.	ENSG00000012174	ENST00000379484;ENST00000365779	D;D	0.94457	-3.43;-2.26	5.55	3.19	0.36642	.	0.806235	0.11668	N	0.541176	D	0.87857	0.6283	L	0.34521	1.04	0.24539	N	0.994079	B;B;P	0.35328	0.146;0.146;0.495	B;B;B	0.22152	0.038;0.038;0.024	T	0.78471	-0.2191	10	0.39692	T	0.17	-5.6371	7.2525	0.26158	0.3205:0.5462:0.0:0.1332	.	39;39;39	A8KA68;O43462;B9ZVQ3	.;MBTP2_HUMAN;.	G	39	ENSP00000368798:E39G;ENSP00000368796:E39G	ENSP00000368796:E39G	E	+	2	0	MBTPS2	21771249	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	3.547000	0.53663	0.709000	0.31976	0.441000	0.28932	GAA	MBTPS2	-	NULL	ENSG00000012174		0.388	MBTPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBTPS2	HGNC	protein_coding	OTTHUMT00000056026.1	217	0.46	1	A			21861328	21861328	+1	no_errors	ENST00000379484	ensembl	human	known	69_37n	missense	179	16.36	35	SNP	0.874	G
MECOM	2122	genome.wustl.edu	37	3	168849290	168849290	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr3:168849290C>T	ENST00000494292.1	-	4	637	c.540G>A	c.(538-540)gcG>gcA	p.A180A	MECOM_ENST00000460814.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000264674.3_Silent_p.A56A|MECOM_ENST00000468789.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCTCCCGGCGCAATGTCTG	0.443																																						dbGAP											0													98.0	72.0	81.0					3																	168849290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.540G>A	3.37:g.168849290C>T			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A180	ENST00000494292.1	37	c.540		3																																																																																			MECOM	-	smart_SET_dom,pfscan_SET_dom	ENSG00000085276		0.443	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351517.3	94	0.00	0	C	NM_005241, NM_004991		168849290	168849290	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	silent	138	23.33	42	SNP	0.075	T
MECOM	2122	genome.wustl.edu	37	3	168849290	168849290	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr3:168849290C>T	ENST00000494292.1	-	4	637	c.540G>A	c.(538-540)gcG>gcA	p.A180A	MECOM_ENST00000460814.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000264674.3_Silent_p.A56A|MECOM_ENST00000468789.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCTCCCGGCGCAATGTCTG	0.443																																						dbGAP											0													98.0	72.0	81.0					3																	168849290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.540G>A	3.37:g.168849290C>T			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A180	ENST00000494292.1	37	c.540		3																																																																																			MECOM	-	smart_SET_dom,pfscan_SET_dom	ENSG00000085276		0.443	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351517.3	58	0.00	0	C	NM_005241, NM_004991		168849290	168849290	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	silent	29	29.27	12	SNP	0.075	T
MECOM	2122	genome.wustl.edu	37	3	168849290	168849290	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:168849290C>T	ENST00000494292.1	-	4	637	c.540G>A	c.(538-540)gcG>gcA	p.A180A	MECOM_ENST00000460814.1_5'UTR|MECOM_ENST00000464456.1_5'UTR|MECOM_ENST00000472280.1_5'UTR|MECOM_ENST00000392736.3_5'UTR|MECOM_ENST00000433243.2_5'UTR|MECOM_ENST00000264674.3_Silent_p.A56A|MECOM_ENST00000468789.1_5'UTR	NM_004991.3	NP_004982.2	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCTCCCGGCGCAATGTCTG	0.443																																						dbGAP											0													98.0	72.0	81.0					3																	168849290		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000494292.1:c.540G>A	3.37:g.168849290C>T			Q13466|Q6FH90	Silent	SNP	pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2	p.A180	ENST00000494292.1	37	c.540		3																																																																																			MECOM	-	smart_SET_dom,pfscan_SET_dom	ENSG00000085276		0.443	MECOM-004	KNOWN	basic|appris_principal	protein_coding	MECOM	HGNC	protein_coding	OTTHUMT00000351517.3	91	0.00	0	C	NM_005241, NM_004991		168849290	168849290	-1	no_errors	ENST00000494292	ensembl	human	known	69_37n	silent	138	23.33	42	SNP	0.075	T
MED14	9282	genome.wustl.edu	37	X	40573117	40573117	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:40573117G>T	ENST00000324817.1	-	5	683	c.565C>A	c.(565-567)Caa>Aaa	p.Q189K		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	189	Interaction with STAT2.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGTGTGGCTTGTTTTTCAATT	0.343																																						dbGAP											0													189.0	172.0	178.0					X																	40573117		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.565C>A	X.37:g.40573117G>T	ENSP00000323720:p.Gln189Lys		Q4KMR7|Q9UNB3	Missense_Mutation	SNP	pfam_Mediator_Med14	p.Q189K	ENST00000324817.1	37	c.565	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	G	13.19	2.164357	0.38217	.	.	ENSG00000180182	ENST00000324817	.	.	.	5.47	5.47	0.80525	.	0.000000	0.85682	D	0.000000	T	0.20901	0.0503	N	0.00563	-1.375	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.40136	-0.9579	9	0.05721	T	0.95	.	18.4132	0.90559	0.0:0.0:1.0:0.0	.	189	O60244	MED14_HUMAN	K	189	.	ENSP00000323720:Q189K	Q	-	1	0	MED14	40458061	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.415000	0.97375	2.290000	0.77057	0.544000	0.68410	CAA	MED14	-	pfam_Mediator_Med14	ENSG00000180182		0.343	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	HGNC	protein_coding	OTTHUMT00000060692.1	465	0.00	0	G	NM_004229		40573117	40573117	-1	no_errors	ENST00000324817	ensembl	human	known	69_37n	missense	269	15.67	50	SNP	1.000	T
MFSD6	54842	genome.wustl.edu	37	2	191334519	191334519	+	Missense_Mutation	SNP	G	G	C	rs199702082		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:191334519G>C	ENST00000392328.1	+	4	1892	c.1568G>C	c.(1567-1569)cGc>cCc	p.R523P	MFSD6_ENST00000535751.1_5'UTR|MFSD6_ENST00000281416.7_Missense_Mutation_p.R523P|MFSD6_ENST00000489793.1_3'UTR	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	523					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						AATACGGCTCGCTATATTTAT	0.358																																						dbGAP											0													66.0	66.0	66.0					2																	191334519		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2306.1	2q32.2	2008-10-29			ENSG00000151690	ENSG00000151690			24711	protein-coding gene	gene with protein product		613476					Standard	NM_017694		Approved	FLJ20160	uc002urz.2	Q6ZSS7	OTTHUMG00000132671	ENST00000392328.1:c.1568G>C	2.37:g.191334519G>C	ENSP00000376141:p.Arg523Pro		D3KSZ4|Q86TH2|Q9NXM3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.R523P	ENST00000392328.1	37	c.1568	CCDS2306.1	2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.621597	0.87460	.	.	ENSG00000151690	ENST00000392328;ENST00000281416	T;T	0.56941	0.43;0.43	6.07	6.07	0.98685	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.78065	0.4225	M	0.86864	2.845	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.80311	-0.1436	10	0.87932	D	0	-16.8299	19.2306	0.93839	0.0:0.0:1.0:0.0	.	523	Q6ZSS7	MFSD6_HUMAN	P	523	ENSP00000376141:R523P;ENSP00000281416:R523P	ENSP00000281416:R523P	R	+	2	0	MFSD6	191042764	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	9.228000	0.95250	2.890000	0.99128	0.585000	0.79938	CGC	MFSD6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	ENSG00000151690		0.358	MFSD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6	HGNC	protein_coding	OTTHUMT00000255931.1	132	0.75	1	G			191334519	191334519	+1	no_errors	ENST00000281416	ensembl	human	known	69_37n	missense	98	27.94	38	SNP	1.000	C
MRPL22	29093	genome.wustl.edu	37	5	154330367	154330367	+	Intron	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr5:154330367C>T	ENST00000523037.1	+	3	118				MRPL22_ENST00000265229.8_Intron|MRPL22_ENST00000439747.3_Intron|MRPL22_ENST00000522038.1_Missense_Mutation_p.L28F	NM_014180.3	NP_054899.2	Q9NWU5	RM22_HUMAN	mitochondrial ribosomal protein L22						translation (GO:0006412)	large ribosomal subunit (GO:0015934)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTATAGGCTTCTTTCATTTCA	0.348																																						dbGAP											0													99.0	101.0	100.0					5																	154330367		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AB051622	CCDS4331.1, CCDS43391.1	5q33.2	2012-09-13			ENSG00000082515	ENSG00000082515		"""Mitochondrial ribosomal proteins / large subunits"""	14480	protein-coding gene	gene with protein product		611835					Standard	NM_014180		Approved	MRP-L25, RPML25, HSPC158	uc003lvy.4	Q9NWU5	OTTHUMG00000130190	ENST00000523037.1:c.78-14C>T	5.37:g.154330367C>T			A6NGJ8|Q5H9Q1|Q96Q51|Q9P006	Missense_Mutation	SNP	pfam_Ribosomal_L22,superfamily_Ribosomal_L22	p.L28F	ENST00000523037.1	37	c.82	CCDS4331.1	5	.	.	.	.	.	.	.	.	.	.	C	12.08	1.829999	0.32329	.	.	ENSG00000082515	ENST00000522038	T	0.48836	0.8	4.9	1.83	0.25207	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20338	-1.0278	6	0.12766	T	0.61	.	3.9034	0.09172	0.0:0.5235:0.1841:0.2924	.	.	.	.	F	28	ENSP00000429039:L28F	ENSP00000429039:L28F	L	+	1	0	MRPL22	154310560	0.891000	0.30450	0.004000	0.12327	0.713000	0.41058	0.651000	0.24873	0.455000	0.26910	0.591000	0.81541	CTT	MRPL22	-	NULL	ENSG00000082515		0.348	MRPL22-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MRPL22	HGNC	protein_coding	OTTHUMT00000252508.2	301	0.00	0	C			154330367	154330367	+1	no_errors	ENST00000522038	ensembl	human	novel	69_37n	missense	279	14.15	46	SNP	0.007	T
N4BP2	55728	genome.wustl.edu	37	4	40123795	40123795	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:40123795A>G	ENST00000261435.6	+	9	4480	c.4064A>G	c.(4063-4065)gAa>gGa	p.E1355G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1355					nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|endonuclease activity (GO:0004519)			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTTAGTGGGGAAGATAAAACC	0.403																																						dbGAP											0													113.0	117.0	116.0					4																	40123795		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037834	CCDS3457.1	4p14	2008-01-18			ENSG00000078177	ENSG00000078177			29851	protein-coding gene	gene with protein product	"""BCL-3 binding protein"""					10718198, 11717310	Standard	NM_018177		Approved	B3BP	uc003guy.4	Q86UW6	OTTHUMG00000128599	ENST00000261435.6:c.4064A>G	4.37:g.40123795A>G	ENSP00000261435:p.Glu1355Gly		A0AVR3|Q9NVK2|Q9P2D4	Missense_Mutation	SNP	pfam_DUF1771,pfam_Smr/MutS2_C,superfamily_UBA-like,smart_Smr/MutS2_C,pfscan_CUE,pfscan_Smr/MutS2_C	p.E1355G	ENST00000261435.6	37	c.4064	CCDS3457.1	4	.	.	.	.	.	.	.	.	.	.	A	12.59	1.983856	0.35036	.	.	ENSG00000078177	ENST00000261435;ENST00000381804	T	0.26067	1.76	5.96	4.79	0.61399	.	0.273464	0.35407	N	0.003234	T	0.25382	0.0617	L	0.56769	1.78	0.28223	N	0.926437	B;B	0.28820	0.224;0.143	B;B	0.28991	0.097;0.045	T	0.23726	-1.0180	10	0.72032	D	0.01	-9.6568	8.5817	0.33632	0.8008:0.1311:0.0681:0.0	.	1355;1355	Q86UW6-2;Q86UW6	.;N4BP2_HUMAN	G	1355;1275	ENSP00000261435:E1355G	ENSP00000261435:E1355G	E	+	2	0	N4BP2	39800190	1.000000	0.71417	0.995000	0.50966	0.175000	0.22909	2.607000	0.46300	2.278000	0.76064	0.477000	0.44152	GAA	N4BP2	-	NULL	ENSG00000078177		0.403	N4BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	N4BP2	HGNC	protein_coding	OTTHUMT00000250458.2	151	0.66	1	A	NM_018177		40123795	40123795	+1	no_errors	ENST00000261435	ensembl	human	known	69_37n	missense	110	26.17	39	SNP	0.999	G
NACAD	23148	genome.wustl.edu	37	7	45120315	45120315	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr7:45120315G>A	ENST00000490531.2	-	7	4617	c.4598C>T	c.(4597-4599)gCg>gTg	p.A1533V		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1533					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						ATTGGCCTGCGCCATCACCAG	0.632																																						dbGAP											0													138.0	133.0	135.0					7																	45120315		692	1591	2283	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4598C>T	7.37:g.45120315G>A	ENSP00000420477:p.Ala1533Val			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.A1533V	ENST00000490531.2	37	c.4598	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830683	0.91036	.	.	ENSG00000136274	ENST00000490531	T	0.13307	2.6	4.57	3.68	0.42216	.	0.000000	0.85682	U	0.000000	T	0.38612	0.1047	M	0.85945	2.785	0.54753	D	0.999983	D	0.76494	0.999	D	0.74674	0.984	T	0.35943	-0.9768	10	0.72032	D	0.01	-17.9891	11.2961	0.49280	0.0904:0.0:0.9096:0.0	.	1533	O15069	NACAD_HUMAN	V	1533	ENSP00000420477:A1533V	ENSP00000420477:A1533V	A	-	2	0	NACAD	45086840	1.000000	0.71417	0.869000	0.34112	0.956000	0.61745	9.500000	0.97977	1.140000	0.42260	0.289000	0.19496	GCG	NACAD	-	NULL	ENSG00000136274		0.632	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	43	0.00	0	G	NM_001146334		45120315	45120315	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	169	27.43	65	SNP	0.997	A
NACAD	23148	genome.wustl.edu	37	7	45120315	45120315	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr7:45120315G>A	ENST00000490531.2	-	7	4617	c.4598C>T	c.(4597-4599)gCg>gTg	p.A1533V		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1533					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						ATTGGCCTGCGCCATCACCAG	0.632																																						dbGAP											0													138.0	133.0	135.0					7																	45120315		692	1591	2283	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4598C>T	7.37:g.45120315G>A	ENSP00000420477:p.Ala1533Val			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.A1533V	ENST00000490531.2	37	c.4598	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830683	0.91036	.	.	ENSG00000136274	ENST00000490531	T	0.13307	2.6	4.57	3.68	0.42216	.	0.000000	0.85682	U	0.000000	T	0.38612	0.1047	M	0.85945	2.785	0.54753	D	0.999983	D	0.76494	0.999	D	0.74674	0.984	T	0.35943	-0.9768	10	0.72032	D	0.01	-17.9891	11.2961	0.49280	0.0904:0.0:0.9096:0.0	.	1533	O15069	NACAD_HUMAN	V	1533	ENSP00000420477:A1533V	ENSP00000420477:A1533V	A	-	2	0	NACAD	45086840	1.000000	0.71417	0.869000	0.34112	0.956000	0.61745	9.500000	0.97977	1.140000	0.42260	0.289000	0.19496	GCG	NACAD	-	NULL	ENSG00000136274		0.632	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	19	0.00	0	G	NM_001146334		45120315	45120315	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	13	27.78	5	SNP	0.997	A
NACAD	23148	genome.wustl.edu	37	7	45120315	45120315	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr7:45120315G>A	ENST00000490531.2	-	7	4617	c.4598C>T	c.(4597-4599)gCg>gTg	p.A1533V		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	1533					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						ATTGGCCTGCGCCATCACCAG	0.632																																						dbGAP											0													138.0	133.0	135.0					7																	45120315		692	1591	2283	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.4598C>T	7.37:g.45120315G>A	ENSP00000420477:p.Ala1533Val			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.A1533V	ENST00000490531.2	37	c.4598	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	27.4	4.830683	0.91036	.	.	ENSG00000136274	ENST00000490531	T	0.13307	2.6	4.57	3.68	0.42216	.	0.000000	0.85682	U	0.000000	T	0.38612	0.1047	M	0.85945	2.785	0.54753	D	0.999983	D	0.76494	0.999	D	0.74674	0.984	T	0.35943	-0.9768	10	0.72032	D	0.01	-17.9891	11.2961	0.49280	0.0904:0.0:0.9096:0.0	.	1533	O15069	NACAD_HUMAN	V	1533	ENSP00000420477:A1533V	ENSP00000420477:A1533V	A	-	2	0	NACAD	45086840	1.000000	0.71417	0.869000	0.34112	0.956000	0.61745	9.500000	0.97977	1.140000	0.42260	0.289000	0.19496	GCG	NACAD	-	NULL	ENSG00000136274		0.632	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	65	0.00	0	G	NM_001146334		45120315	45120315	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	169	27.43	65	SNP	0.997	A
NLGN1	22871	genome.wustl.edu	37	3	173322839	173322839	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr3:173322839G>A	ENST00000457714.1	+	3	880	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	NLGN1_ENST00000361589.4_Missense_Mutation_p.E151K|NLGN1_ENST00000401917.3_Missense_Mutation_p.E151K|NLGN1_ENST00000545397.1_Missense_Mutation_p.E151K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	151					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.E151K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACCAGAGCGAAGACTGCCT	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	106.0	105.0					3																	173322839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.451G>A	3.37:g.173322839G>A	ENSP00000392500:p.Glu151Lys		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E151K	ENST00000457714.1	37	c.451	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630505	0.87660	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97670	1.0166	10	0.87932	D	0	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	151;151	D2X2H5;Q8N2Q7-2	.;.	K	151	ENSP00000392500:E151K;ENSP00000354541:E151K;ENSP00000410374:E151K;ENSP00000441108:E151K;ENSP00000385750:E151K	ENSP00000354541:E151K	E	+	1	0	NLGN1	174805533	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.420000	0.97426	2.809000	0.96659	0.467000	0.42956	GAA	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.368	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	156	0.00	0	G	NM_014932		173322839	173322839	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	145	29.95	62	SNP	1.000	A
NLGN1	22871	genome.wustl.edu	37	3	173322839	173322839	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr3:173322839G>A	ENST00000457714.1	+	3	880	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	NLGN1_ENST00000361589.4_Missense_Mutation_p.E151K|NLGN1_ENST00000401917.3_Missense_Mutation_p.E151K|NLGN1_ENST00000545397.1_Missense_Mutation_p.E151K	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	151					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|calcium-dependent cell-cell adhesion (GO:0016339)|cytoskeletal matrix organization at active zone (GO:0048789)|establishment of protein localization (GO:0045184)|heterophilic cell-cell adhesion (GO:0007157)|N-methyl-D-aspartate receptor clustering (GO:0097114)|nervous system development (GO:0007399)|neurexin clustering (GO:0097115)|neuron cell-cell adhesion (GO:0007158)|neuronal signal transduction (GO:0023041)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of synaptic vesicle endocytosis (GO:1900244)|positive regulation of synaptic vesicle exocytosis (GO:2000302)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|protein homooligomerization (GO:0051260)|protein localization to synapse (GO:0035418)|protein targeting (GO:0006605)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of neuron differentiation (GO:0045664)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|synapse assembly (GO:0007416)|synaptic vesicle clustering (GO:0097091)|synaptic vesicle targeting (GO:0016080)|terminal button organization (GO:0072553)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|filopodium tip (GO:0032433)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|PDZ domain binding (GO:0030165)|protein dimerization activity (GO:0046983)|receptor activity (GO:0004872)	p.E151K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AGACCAGAGCGAAGACTGCCT	0.368																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											104.0	106.0	105.0					3																	173322839		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB028993	CCDS3222.1	3q26.32	2008-07-18			ENSG00000169760	ENSG00000169760			14291	protein-coding gene	gene with protein product		600568				10767552, 10819331	Standard	NM_014932		Approved	KIAA1070	uc003fio.1	Q8N2Q7	OTTHUMG00000157005	ENST00000457714.1:c.451G>A	3.37:g.173322839G>A	ENSP00000392500:p.Glu151Lys		Q9UPT2	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.E151K	ENST00000457714.1	37	c.451	CCDS3222.1	3	.	.	.	.	.	.	.	.	.	.	G	25.4	4.630505	0.87660	.	.	ENSG00000169760	ENST00000457714;ENST00000361589;ENST00000415045;ENST00000545397;ENST00000401917	D;D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19;-2.19	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96605	0.8892	H	0.98276	4.19	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	D	0.97670	1.0166	10	0.87932	D	0	.	20.0185	0.97487	0.0:0.0:1.0:0.0	.	151;151	D2X2H5;Q8N2Q7-2	.;.	K	151	ENSP00000392500:E151K;ENSP00000354541:E151K;ENSP00000410374:E151K;ENSP00000441108:E151K;ENSP00000385750:E151K	ENSP00000354541:E151K	E	+	1	0	NLGN1	174805533	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.420000	0.97426	2.809000	0.96659	0.467000	0.42956	GAA	NLGN1	-	pfam_CarbesteraseB	ENSG00000169760		0.368	NLGN1-001	KNOWN	basic|CCDS	protein_coding	NLGN1	HGNC	protein_coding	OTTHUMT00000347054.3	111	0.89	1	G	NM_014932		173322839	173322839	+1	no_errors	ENST00000401917	ensembl	human	known	69_37n	missense	145	29.95	62	SNP	1.000	A
NPAS3	64067	genome.wustl.edu	37	14	33836427	33836427	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr14:33836427C>T	ENST00000356141.4	+	4	421	c.421C>T	c.(421-423)Cta>Tta	p.L141L	NPAS3_ENST00000547068.1_Silent_p.L37L|NPAS3_ENST00000551008.1_Silent_p.L39L|NPAS3_ENST00000551492.1_Silent_p.L146L|NPAS3_ENST00000346562.2_Silent_p.L109L|NPAS3_ENST00000548645.1_Silent_p.L111L|NPAS3_ENST00000357798.5_Silent_p.L128L|NPAS3_ENST00000341321.4_Silent_p.L141L			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	141					locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCCCAGTGCACTAGCCATTGA	0.353																																						dbGAP											0													62.0	61.0	61.0					14																	33836427		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.421C>T	14.37:g.33836427C>T			Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Silent	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pfscan_PAS,pfscan_HLH_DNA-bd	p.L141	ENST00000356141.4	37	c.421	CCDS53891.1	14																																																																																			NPAS3	-	NULL	ENSG00000151322		0.353	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	140	0.00	0	C			33836427	33836427	+1	no_errors	ENST00000356141	ensembl	human	known	69_37n	silent	63	45.30	53	SNP	1.000	T
OR4C5	79346	genome.wustl.edu	37	11	48387506	48387506	+	Missense_Mutation	SNP	A	A	G	rs72898882	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:48387506A>G	ENST00000319813.3	-	1	511	c.512T>C	c.(511-513)gTc>gCc	p.V171A				Q8NGB2	OR4C5_HUMAN	olfactory receptor, family 4, subfamily C, member 5	171						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AAATCCCCCGACCCATGCCAT	0.512																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0					11p11.2	2013-03-27	2004-03-04	2004-03-05	ENSG00000176540	ENSG00000176540		"""GPCR / Class A : Olfactory receptors"""	14702	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 5 pseudogene"""	OR4C5P			Standard	NG_002247		Approved	OR4C5Q		Q8NGB2	OTTHUMG00000169462	ENST00000319813.3:c.512T>C	11.37:g.48387506A>G	ENSP00000321338:p.Val171Ala		Q6IFB2	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.V171A	ENST00000319813.3	37	c.512		11	.	.	.	.	.	.	.	.	.	.	A	0.828	-0.746355	0.03065	.	.	ENSG00000176540	ENST00000319813	T	0.38722	1.12	4.93	-2.45	0.06481	.	0.647613	0.14453	N	0.318640	T	0.25975	0.0633	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24297	-1.0164	7	0.25106	T	0.35	.	5.3221	0.15887	0.591:0.0:0.2551:0.1539	.	.	.	.	A	171	ENSP00000321338:V171A	ENSP00000321338:V171A	V	-	2	0	OR4C5	48344082	0.000000	0.05858	0.001000	0.08648	0.042000	0.13812	-0.032000	0.12266	-0.265000	0.09352	-0.503000	0.04515	GTC	OR4C5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000176540		0.512	OR4C5-001	KNOWN	basic|appris_principal	protein_coding	OR4C5	HGNC	protein_coding	OTTHUMT00000404174.1	13	0.00	0	A	NG_002247		48387506	48387506	-1	no_errors	ENST00000319813	ensembl	human	known	69_37n	missense	40	28.81	17	SNP	0.000	G
OTC	5009	genome.wustl.edu	37	X	38260563	38260563	+	Missense_Mutation	SNP	G	G	C	rs68026851		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:38260563G>C	ENST00000039007.4	+	5	574	c.422G>C	c.(421-423)cGa>cCa	p.R141P	TM4SF2_ENST00000465127.1_Intron|OTC_ENST00000488812.1_3'UTR	NM_000531.5	NP_000522.3	P00480	OTC_HUMAN	ornithine carbamoyltransferase	141			R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation). {ECO:0000269|PubMed:3170748, ECO:0000269|PubMed:8830175}.		ammonia homeostasis (GO:0097272)|arginine biosynthetic process (GO:0006526)|cellular nitrogen compound metabolic process (GO:0034641)|citrulline biosynthetic process (GO:0019240)|liver development (GO:0001889)|midgut development (GO:0007494)|ornithine catabolic process (GO:0006593)|protein homotrimerization (GO:0070207)|response to biotin (GO:0070781)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|ornithine carbamoyltransferase activity (GO:0004585)|phosphate ion binding (GO:0042301)|phospholipid binding (GO:0005543)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTATTGGCTCGAGTGTATAAA	0.378																																						dbGAP											0			GRCh37	CM880056|CM971101	OTC	M	rs68026851						88.0	69.0	75.0					X																	38260563		2202	4300	6502	-	-	-	SO:0001583	missense	0			K02100	CCDS14247.1	Xp21.1	2014-06-28			ENSG00000036473	ENSG00000036473	2.1.3.3		8512	protein-coding gene	gene with protein product		300461					Standard	NM_000531		Approved		uc004def.4	P00480	OTTHUMG00000022727	ENST00000039007.4:c.422G>C	X.37:g.38260563G>C	ENSP00000039007:p.Arg141Pro		A8K9P2|D3DWB0|Q3KNR1|Q6B0I1|Q9NYJ5	Missense_Mutation	SNP	pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,prints_Orn/put_carbamltrans,prints_Asp/Orn_carbamoylTrfase,prints_Asp_carbamoyltransf_euk,tigrfam_Orn/put_carbamltrans	p.R141P	ENST00000039007.4	37	c.422	CCDS14247.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329946	0.81690	.	.	ENSG00000036473	ENST00000039007	D	0.99961	-9.33	5.97	5.11	0.69529	Aspartate/ornithine carbamoyltransferase, carbamoyl-P binding (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.99454	4.575	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97338	0.9955	10	0.87932	D	0	-3.6673	14.2282	0.65873	0.0729:0.0:0.9271:0.0	.	141	P00480	OTC_HUMAN	P	141	ENSP00000039007:R141P	ENSP00000039007:R141P	R	+	2	0	OTC	38145507	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.417000	0.97391	1.278000	0.44430	0.600000	0.82982	CGA	OTC	-	pfam_Asp/Orn_carbamoyltranf_P-bd,superfamily_Asp/Orn_carbamoylTrfase,tigrfam_Orn/put_carbamltrans	ENSG00000036473		0.378	OTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTC	HGNC	protein_coding	OTTHUMT00000059006.2	231	0.86	2	G			38260563	38260563	+1	no_errors	ENST00000039007	ensembl	human	known	69_37n	missense	72	47.48	66	SNP	1.000	C
OTOF	9381	genome.wustl.edu	37	2	26687737	26687737	+	Splice_Site	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:26687737C>T	ENST00000272371.2	-	39	5086	c.4960G>A	c.(4960-4962)Ggt>Agt	p.G1654S	OTOF_ENST00000338581.6_Splice_Site_p.G887S|OTOF_ENST00000403946.3_Splice_Site_p.G1654S|OTOF_ENST00000402415.3_Splice_Site_p.G964S|OTOF_ENST00000339598.3_Splice_Site_p.G887S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1654					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCATTACCGTTCTCGTCC	0.647																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													47.0	54.0	51.0					2																	26687737		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4960+1G>A	2.37:g.26687737C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G1654S	ENST00000272371.2	37	c.4960	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037261	0.75617	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	4.91	4.91	0.64330	.	0.050988	0.85682	D	0.000000	T	0.70988	0.3287	L	0.56396	1.775	0.80722	D	1	D;P;D;P	0.76494	0.999;0.943;0.997;0.881	D;B;D;B	0.63793	0.915;0.329;0.918;0.329	T	0.70920	-0.4741	9	.	.	.	-11.9591	17.7125	0.88326	0.0:1.0:0.0:0.0	.	1654;887;964;887	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	887;887;964;1654;1654	ENSP00000345137:G887S;ENSP00000344521:G887S;ENSP00000383906:G964S;ENSP00000272371:G1654S;ENSP00000385255:G1654S	.	G	-	1	0	OTOF	26541241	1.000000	0.71417	0.997000	0.53966	0.242000	0.25591	7.818000	0.86416	2.260000	0.74910	0.561000	0.74099	GGT	OTOF	-	NULL	ENSG00000115155		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	38	0.00	0	C		Missense_Mutation	26687737	26687737	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	1.000	T
OTOF	9381	genome.wustl.edu	37	2	26687737	26687737	+	Splice_Site	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:26687737C>T	ENST00000272371.2	-	39	5086	c.4960G>A	c.(4960-4962)Ggt>Agt	p.G1654S	OTOF_ENST00000338581.6_Splice_Site_p.G887S|OTOF_ENST00000403946.3_Splice_Site_p.G1654S|OTOF_ENST00000402415.3_Splice_Site_p.G964S|OTOF_ENST00000339598.3_Splice_Site_p.G887S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1654					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCATTACCGTTCTCGTCC	0.647																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													47.0	54.0	51.0					2																	26687737		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4960+1G>A	2.37:g.26687737C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G1654S	ENST00000272371.2	37	c.4960	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037261	0.75617	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	4.91	4.91	0.64330	.	0.050988	0.85682	D	0.000000	T	0.70988	0.3287	L	0.56396	1.775	0.80722	D	1	D;P;D;P	0.76494	0.999;0.943;0.997;0.881	D;B;D;B	0.63793	0.915;0.329;0.918;0.329	T	0.70920	-0.4741	9	.	.	.	-11.9591	17.7125	0.88326	0.0:1.0:0.0:0.0	.	1654;887;964;887	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	887;887;964;1654;1654	ENSP00000345137:G887S;ENSP00000344521:G887S;ENSP00000383906:G964S;ENSP00000272371:G1654S;ENSP00000385255:G1654S	.	G	-	1	0	OTOF	26541241	1.000000	0.71417	0.997000	0.53966	0.242000	0.25591	7.818000	0.86416	2.260000	0.74910	0.561000	0.74099	GGT	OTOF	-	NULL	ENSG00000115155		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	130	0.00	0	C		Missense_Mutation	26687737	26687737	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	172	15.69	32	SNP	1.000	T
OTOF	9381	genome.wustl.edu	37	2	26687737	26687737	+	Splice_Site	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:26687737C>T	ENST00000272371.2	-	39	5086	c.4960G>A	c.(4960-4962)Ggt>Agt	p.G1654S	OTOF_ENST00000338581.6_Splice_Site_p.G887S|OTOF_ENST00000403946.3_Splice_Site_p.G1654S|OTOF_ENST00000402415.3_Splice_Site_p.G964S|OTOF_ENST00000339598.3_Splice_Site_p.G887S	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1654					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCATTACCGTTCTCGTCC	0.647																																					GBM(102;732 1451 20652 24062 31372)	dbGAP											0													47.0	54.0	51.0					2																	26687737		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.4960+1G>A	2.37:g.26687737C>T			B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.G1654S	ENST00000272371.2	37	c.4960	CCDS1725.1	2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037261	0.75617	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.61859	0.07;0.07;0.07;0.07;0.07	4.91	4.91	0.64330	.	0.050988	0.85682	D	0.000000	T	0.70988	0.3287	L	0.56396	1.775	0.80722	D	1	D;P;D;P	0.76494	0.999;0.943;0.997;0.881	D;B;D;B	0.63793	0.915;0.329;0.918;0.329	T	0.70920	-0.4741	9	.	.	.	-11.9591	17.7125	0.88326	0.0:1.0:0.0:0.0	.	1654;887;964;887	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	S	887;887;964;1654;1654	ENSP00000345137:G887S;ENSP00000344521:G887S;ENSP00000383906:G964S;ENSP00000272371:G1654S;ENSP00000385255:G1654S	.	G	-	1	0	OTOF	26541241	1.000000	0.71417	0.997000	0.53966	0.242000	0.25591	7.818000	0.86416	2.260000	0.74910	0.561000	0.74099	GGT	OTOF	-	NULL	ENSG00000115155		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OTOF	HGNC	protein_coding	OTTHUMT00000214047.3	35	0.00	0	C		Missense_Mutation	26687737	26687737	-1	no_errors	ENST00000272371	ensembl	human	known	69_37n	missense	77	23.00	23	SNP	1.000	T
PAGE4	9506	genome.wustl.edu	37	X	49598456	49598456	+	Silent	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:49598456G>C	ENST00000218068.6	+	5	379	c.300G>C	c.(298-300)ggG>ggC	p.G100G	PAGE4_ENST00000376141.1_Silent_p.G100G	NM_007003.2	NP_008934.1	O60829	PAGE4_HUMAN	P antigen family, member 4 (prostate associated)	100												Ovarian(276;0.236)					TAGGAGATGGGCAGCCATAAG	0.338																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF275258	CCDS35274.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000101951	ENSG00000101951			4108	protein-coding gene	gene with protein product		300287	"""G antigen, family C, 1"""	GAGEC1		9724777	Standard	NM_007003		Approved	PAGE-4, CT16.7	uc004don.1	O60829	OTTHUMG00000024155	ENST00000218068.6:c.300G>C	X.37:g.49598456G>C			B2R529|D3DX68|Q6IBI1	Silent	SNP	pfam_GAGE	p.G100	ENST00000218068.6	37	c.300	CCDS35274.1	X																																																																																			PAGE4	-	pfam_GAGE	ENSG00000101951		0.338	PAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE4	HGNC	protein_coding	OTTHUMT00000060839.1	192	0.52	1	G			49598456	49598456	+1	no_errors	ENST00000218068	ensembl	human	known	69_37n	silent	109	25.34	37	SNP	0.008	C
PAGE4	9506	genome.wustl.edu	37	X	49598456	49598456	+	Silent	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:49598456G>C	ENST00000218068.6	+	5	379	c.300G>C	c.(298-300)ggG>ggC	p.G100G	PAGE4_ENST00000376141.1_Silent_p.G100G	NM_007003.2	NP_008934.1	O60829	PAGE4_HUMAN	P antigen family, member 4 (prostate associated)	100												Ovarian(276;0.236)					TAGGAGATGGGCAGCCATAAG	0.338																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AF275258	CCDS35274.1	Xp11.23	2009-06-17	2005-01-26	2005-01-27	ENSG00000101951	ENSG00000101951			4108	protein-coding gene	gene with protein product		300287	"""G antigen, family C, 1"""	GAGEC1		9724777	Standard	NM_007003		Approved	PAGE-4, CT16.7	uc004don.1	O60829	OTTHUMG00000024155	ENST00000218068.6:c.300G>C	X.37:g.49598456G>C			B2R529|D3DX68|Q6IBI1	Silent	SNP	pfam_GAGE	p.G100	ENST00000218068.6	37	c.300	CCDS35274.1	X																																																																																			PAGE4	-	pfam_GAGE	ENSG00000101951		0.338	PAGE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAGE4	HGNC	protein_coding	OTTHUMT00000060839.1	178	0.00	0	G			49598456	49598456	+1	no_errors	ENST00000218068	ensembl	human	known	69_37n	silent	109	25.34	37	SNP	0.008	C
PALLD	23022	genome.wustl.edu	37	4	169589473	169589473	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:169589473G>A	ENST00000505667.1	+	3	1214	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.T347T|PALLD_ENST00000333488.4_Silent_p.T224T|PALLD_ENST00000512127.1_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	347	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTTTGGCTACGAATCCCAGCG	0.522									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	dbGAP											0													143.0	131.0	135.0					4																	169589473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1041G>A	4.37:g.169589473G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T347	ENST00000505667.1	37	c.1041	CCDS54818.1	4																																																																																			PALLD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000129116		0.522	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	86	0.00	0	G	NM_016081		169589473	169589473	+1	no_errors	ENST00000261509	ensembl	human	known	69_37n	silent	181	30.00	78	SNP	0.289	A
PALLD	23022	genome.wustl.edu	37	4	169589473	169589473	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr4:169589473G>A	ENST00000505667.1	+	3	1214	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000261509.6_Silent_p.T347T|PALLD_ENST00000333488.4_Silent_p.T224T|PALLD_ENST00000512127.1_5'UTR			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	347	Ig-like C2-type 1.				cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTTTGGCTACGAATCCCAGCG	0.522									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)	dbGAP											0													143.0	131.0	135.0					4																	169589473		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.1041G>A	4.37:g.169589473G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T347	ENST00000505667.1	37	c.1041	CCDS54818.1	4																																																																																			PALLD	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000129116		0.522	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	71	0.00	0	G	NM_016081		169589473	169589473	+1	no_errors	ENST00000261509	ensembl	human	known	69_37n	silent	38	30.91	17	SNP	0.289	A
PAPPA2	60676	genome.wustl.edu	37	1	176709226	176709226	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:176709226C>T	ENST00000367662.3	+	14	5209	c.4045C>T	c.(4045-4047)Cgg>Tgg	p.R1349W		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCATCCCCACGGGTCGGCAT	0.522																																						dbGAP											0													170.0	167.0	168.0					1																	176709226		2034	4187	6221	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4045C>T	1.37:g.176709226C>T	ENSP00000356634:p.Arg1349Trp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R1349W	ENST00000367662.3	37	c.4045	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	c	15.76	2.928062	0.52759	.	.	ENSG00000116183	ENST00000367662	T	0.01629	4.72	5.91	-6.99	0.01605	.	0.664334	0.15667	N	0.250580	T	0.01940	0.0061	L	0.40543	1.245	0.09310	N	1	D	0.53462	0.96	P	0.46339	0.513	T	0.02263	-1.1186	10	0.52906	T	0.07	-0.507	9.9995	0.41920	0.0865:0.3914:0.0:0.5221	.	1349	Q9BXP8	PAPP2_HUMAN	W	1349	ENSP00000356634:R1349W	ENSP00000356634:R1349W	R	+	1	2	PAPPA2	174975849	0.000000	0.05858	0.002000	0.10522	0.667000	0.39255	-0.564000	0.05936	-1.726000	0.01370	-0.119000	0.15052	CGG	PAPPA2	-	NULL	ENSG00000116183		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	215	0.00	0	C			176709226	176709226	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	530	37.28	315	SNP	0.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176709226	176709226	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:176709226C>T	ENST00000367662.3	+	14	5209	c.4045C>T	c.(4045-4047)Cgg>Tgg	p.R1349W		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCATCCCCACGGGTCGGCAT	0.522																																						dbGAP											0													170.0	167.0	168.0					1																	176709226		2034	4187	6221	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4045C>T	1.37:g.176709226C>T	ENSP00000356634:p.Arg1349Trp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R1349W	ENST00000367662.3	37	c.4045	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	c	15.76	2.928062	0.52759	.	.	ENSG00000116183	ENST00000367662	T	0.01629	4.72	5.91	-6.99	0.01605	.	0.664334	0.15667	N	0.250580	T	0.01940	0.0061	L	0.40543	1.245	0.09310	N	1	D	0.53462	0.96	P	0.46339	0.513	T	0.02263	-1.1186	10	0.52906	T	0.07	-0.507	9.9995	0.41920	0.0865:0.3914:0.0:0.5221	.	1349	Q9BXP8	PAPP2_HUMAN	W	1349	ENSP00000356634:R1349W	ENSP00000356634:R1349W	R	+	1	2	PAPPA2	174975849	0.000000	0.05858	0.002000	0.10522	0.667000	0.39255	-0.564000	0.05936	-1.726000	0.01370	-0.119000	0.15052	CGG	PAPPA2	-	NULL	ENSG00000116183		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	58	0.00	0	C			176709226	176709226	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	64	35.35	35	SNP	0.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176709226	176709226	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:176709226C>T	ENST00000367662.3	+	14	5209	c.4045C>T	c.(4045-4047)Cgg>Tgg	p.R1349W		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1349					bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						CTCATCCCCACGGGTCGGCAT	0.522																																						dbGAP											0													170.0	167.0	168.0					1																	176709226		2034	4187	6221	-	-	-	SO:0001583	missense	0			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4045C>T	1.37:g.176709226C>T	ENSP00000356634:p.Arg1349Trp		A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.R1349W	ENST00000367662.3	37	c.4045	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	c	15.76	2.928062	0.52759	.	.	ENSG00000116183	ENST00000367662	T	0.01629	4.72	5.91	-6.99	0.01605	.	0.664334	0.15667	N	0.250580	T	0.01940	0.0061	L	0.40543	1.245	0.09310	N	1	D	0.53462	0.96	P	0.46339	0.513	T	0.02263	-1.1186	10	0.52906	T	0.07	-0.507	9.9995	0.41920	0.0865:0.3914:0.0:0.5221	.	1349	Q9BXP8	PAPP2_HUMAN	W	1349	ENSP00000356634:R1349W	ENSP00000356634:R1349W	R	+	1	2	PAPPA2	174975849	0.000000	0.05858	0.002000	0.10522	0.667000	0.39255	-0.564000	0.05936	-1.726000	0.01370	-0.119000	0.15052	CGG	PAPPA2	-	NULL	ENSG00000116183		0.522	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	282	0.35	1	C			176709226	176709226	+1	no_errors	ENST00000367662	ensembl	human	known	69_37n	missense	530	37.28	315	SNP	0.000	T
PARVG	64098	genome.wustl.edu	37	22	44585003	44585003	+	Missense_Mutation	SNP	C	C	G	rs200993379	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr22:44585003C>G	ENST00000444313.3	+	6	741	c.257C>G	c.(256-258)gCg>gGg	p.A86G	PARVG_ENST00000422871.1_Missense_Mutation_p.A86G|PARVG_ENST00000415224.1_Missense_Mutation_p.A86G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma	86	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell-matrix adhesion (GO:0007160)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				GAGAGGCTGGCGGCGCTCAAG	0.657																																						dbGAP											0													52.0	55.0	54.0					22																	44585003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237772	CCDS14057.1	22q13.31	2013-01-24			ENSG00000138964	ENSG00000138964		"""Parvins"""	14654	protein-coding gene	gene with protein product		608122				11171322	Standard	NM_022141		Approved		uc003bep.4	Q9HBI0	OTTHUMG00000150473	ENST00000444313.3:c.257C>G	22.37:g.44585003C>G	ENSP00000391583:p.Ala86Gly		B4DDW5|E7EVM6|Q9BQX5|Q9NSG1	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A86G	ENST00000444313.3	37	c.257	CCDS14057.1	22	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361742	0.24684	.	.	ENSG00000138964	ENST00000422871;ENST00000444313;ENST00000415224	D;D;D	0.95205	-3.64;-3.64;-3.64	4.86	2.59	0.31030	Calponin homology domain (4);	0.476104	0.20767	N	0.086056	D	0.91175	0.7220	L	0.40543	1.245	0.19775	N	0.999956	B	0.26602	0.154	B	0.33339	0.162	T	0.83293	-0.0032	10	0.35671	T	0.21	0.6589	12.4603	0.55729	0.0:0.6772:0.3228:0.0	.	86	Q9HBI0	PARVG_HUMAN	G	86	ENSP00000391453:A86G;ENSP00000391583:A86G;ENSP00000416761:A86G	ENSP00000349378:A86G	A	+	2	0	PARVG	42916336	0.875000	0.30112	0.075000	0.20258	0.690000	0.40134	1.733000	0.38156	1.025000	0.39708	0.555000	0.69702	GCG	PARVG	-	pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain	ENSG00000138964		0.657	PARVG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVG	HGNC	protein_coding	OTTHUMT00000318238.4	56	0.00	0	C	NM_022141		44585003	44585003	+1	no_errors	ENST00000415224	ensembl	human	known	69_37n	missense	50	58.20	71	SNP	0.189	G
PDS5B	23047	genome.wustl.edu	37	13	33284147	33284147	+	Missense_Mutation	SNP	G	G	T	rs201409031		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:33284147G>T	ENST00000315596.10	+	19	2213	c.2027G>T	c.(2026-2028)tGt>tTt	p.C676F		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	676					cell proliferation (GO:0008283)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of cell proliferation (GO:0008285)|regulation of cell proliferation (GO:0042127)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		TTACTGGCTTGTCTGAAAATG	0.328																																						dbGAP											0													72.0	75.0	74.0					13																	33284147		1802	4073	5875	-	-	-	SO:0001583	missense	0			AB023196	CCDS41878.1	13q12.3	2008-02-05	2007-07-18	2007-07-18	ENSG00000083642	ENSG00000083642			20418	protein-coding gene	gene with protein product		605333	"""androgen-induced proliferation inhibitor"""	APRIN		8812419, 10215036	Standard	NM_015032		Approved	AS3, KIAA0979, FLJ23236, CG008	uc010abf.3	Q9NTI5	OTTHUMG00000016704	ENST00000315596.10:c.2027G>T	13.37:g.33284147G>T	ENSP00000313851:p.Cys676Phe		Q5R3S3|Q5W0K8|Q6NSC3|Q8IXT6|Q9H5N8|Q9Y2I5|Q9Y451	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.C676F	ENST00000315596.10	37	c.2027	CCDS41878.1	13	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998422	0.54147	.	.	ENSG00000083642	ENST00000315596;ENST00000421084	T	0.68181	-0.31	5.83	5.83	0.93111	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64940	0.2644	L	0.35414	1.06	0.80722	D	1	P	0.50528	0.936	P	0.48921	0.595	T	0.58142	-0.7688	10	0.17832	T	0.49	-17.7433	20.1356	0.98028	0.0:0.0:1.0:0.0	.	676	Q9NTI5	PDS5B_HUMAN	F	676	ENSP00000313851:C676F	ENSP00000313851:C676F	C	+	2	0	PDS5B	32182147	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.914000	0.87478	2.755000	0.94549	0.650000	0.86243	TGT	PDS5B	-	superfamily_ARM-type_fold	ENSG00000083642		0.328	PDS5B-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5B	HGNC	protein_coding	OTTHUMT00000044428.3	109	0.00	0	G	NM_015032		33284147	33284147	+1	no_errors	ENST00000315596	ensembl	human	known	69_37n	missense	47	58.04	65	SNP	1.000	T
PDZD2	23037	genome.wustl.edu	37	5	31983478	31983478	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr5:31983478G>A	ENST00000438447.1	+	3	1082	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E232K			O15018	PDZD2_HUMAN	PDZ domain containing 2	232					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAGGCCCCTGAAGAATCCAA	0.567																																						dbGAP											0													66.0	66.0	66.0					5																	31983478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.694G>A	5.37:g.31983478G>A	ENSP00000402033:p.Glu232Lys		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E232K	ENST00000438447.1	37	c.694	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112759	0.37242	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.64438	-0.1;-0.1	5.05	4.18	0.49190	.	0.000000	0.48286	D	0.000196	T	0.58323	0.2114	N	0.17082	0.46	0.09310	N	0.999996	B;D	0.69078	0.15;0.997	B;D	0.75020	0.027;0.985	T	0.49163	-0.8968	10	0.11182	T	0.66	.	9.2499	0.37549	0.0968:0.0:0.9032:0.0	.	58;232	B4E3P2;O15018	.;PDZD2_HUMAN	K	232	ENSP00000402033:E232K;ENSP00000282493:E232K	ENSP00000282493:E232K	E	+	1	0	PDZD2	32019235	1.000000	0.71417	0.827000	0.32855	0.254000	0.26022	4.059000	0.57470	1.361000	0.45981	-0.142000	0.14014	GAA	PDZD2	-	NULL	ENSG00000133401		0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	51	0.00	0	G			31983478	31983478	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	159	13.59	25	SNP	0.272	A
PDZD2	23037	genome.wustl.edu	37	5	31983478	31983478	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:31983478G>A	ENST00000438447.1	+	3	1082	c.694G>A	c.(694-696)Gaa>Aaa	p.E232K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E232K			O15018	PDZD2_HUMAN	PDZ domain containing 2	232					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CAAGGCCCCTGAAGAATCCAA	0.567																																						dbGAP											0													66.0	66.0	66.0					5																	31983478		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.694G>A	5.37:g.31983478G>A	ENSP00000402033:p.Glu232Lys		Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E232K	ENST00000438447.1	37	c.694	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112759	0.37242	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.64438	-0.1;-0.1	5.05	4.18	0.49190	.	0.000000	0.48286	D	0.000196	T	0.58323	0.2114	N	0.17082	0.46	0.09310	N	0.999996	B;D	0.69078	0.15;0.997	B;D	0.75020	0.027;0.985	T	0.49163	-0.8968	10	0.11182	T	0.66	.	9.2499	0.37549	0.0968:0.0:0.9032:0.0	.	58;232	B4E3P2;O15018	.;PDZD2_HUMAN	K	232	ENSP00000402033:E232K;ENSP00000282493:E232K	ENSP00000282493:E232K	E	+	1	0	PDZD2	32019235	1.000000	0.71417	0.827000	0.32855	0.254000	0.26022	4.059000	0.57470	1.361000	0.45981	-0.142000	0.14014	GAA	PDZD2	-	NULL	ENSG00000133401		0.567	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	56	0.00	0	G			31983478	31983478	+1	no_errors	ENST00000282493	ensembl	human	known	69_37n	missense	159	13.59	25	SNP	0.272	A
PIEZO1	9780	genome.wustl.edu	37	16	88787087	88787087	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr16:88787087G>T	ENST00000301015.9	-	40	5984	c.5738C>A	c.(5737-5739)cCa>cAa	p.P1913Q	PIEZO1_ENST00000327397.7_5'Flank|RP5-1142A6.9_ENST00000564984.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	1913					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						AGAGCGGCTTGGCCTCTTCTC	0.662																																						dbGAP											0													53.0	57.0	56.0					16																	88787087		692	1591	2283	-	-	-	SO:0001583	missense	0			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.5738C>A	16.37:g.88787087G>T	ENSP00000301015:p.Pro1913Gln		A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.P1913Q	ENST00000301015.9	37	c.5738	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	7.554	0.663314	0.14710	.	.	ENSG00000103335	ENST00000301015	T	0.71103	-0.54	4.99	-1.98	0.07480	.	1.132850	0.06533	N	0.741842	T	0.31702	0.0805	N	0.01048	-1.04	0.09310	N	0.999997	B	0.09022	0.002	B	0.04013	0.001	T	0.14008	-1.0488	10	0.13853	T	0.58	-0.0477	0.3827	0.00398	0.2784:0.1783:0.3154:0.2279	.	1913	Q92508	PIEZ1_HUMAN	Q	1913	ENSP00000301015:P1913Q	ENSP00000301015:P1913Q	P	-	2	0	FAM38A	87314588	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.128000	0.10531	-0.373000	0.07979	0.561000	0.74099	CCA	PIEZO1	-	NULL	ENSG00000103335		0.662	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	197	0.51	1	G	NM_014745		88787087	88787087	-1	no_errors	ENST00000301015	ensembl	human	novel	69_37n	missense	171	25.75	60	SNP	0.000	T
PITX1	5307	genome.wustl.edu	37	5	134367104	134367106	+	In_Frame_Del	DEL	CTT	CTT	-	rs200888898		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr5:134367104_134367106delCTT	ENST00000265340.7	-	2	678_680	c.262_264delAAG	c.(262-264)aagdel	p.K88del	CTC-349C3.1_ENST00000432382.3_5'Flank|PITX1_ENST00000506438.1_In_Frame_Del_p.K88del	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	88					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCCGCCGCTGCTTCTTCTTCTTG	0.645																																						dbGAP											0										28,4236		12,4,2116						4.5	1.0			75	59,8195		29,1,4097	no	coding	PITX1	NM_002653.4		41,5,6213	A1A1,A1R,RR		0.7148,0.6567,0.695				87,12431				-	-	-	SO:0001651	inframe_deletion	0			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.262_264delAAG	5.37:g.134367113_134367115delCTT	ENSP00000265340:p.Lys88del		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	In_Frame_Del	DEL	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.K88in_frame_del	ENST00000265340.7	37	c.264_262	CCDS4182.1	5																																																																																			PITX1	-	superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30,pfscan_Homeodomain	ENSG00000069011		0.645	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	60	0.00	0	CTT			134367104	134367106	-1	no_errors	ENST00000265340	ensembl	human	known	69_37n	in_frame_del	90	15.09	16	DEL	1.000:1.000:1.000	-
PITX1	5307	genome.wustl.edu	37	5	134367104	134367106	+	In_Frame_Del	DEL	CTT	CTT	-	rs200888898		TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	CTT	CTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr5:134367104_134367106delCTT	ENST00000265340.7	-	2	678_680	c.262_264delAAG	c.(262-264)aagdel	p.K88del	CTC-349C3.1_ENST00000432382.3_5'Flank|PITX1_ENST00000506438.1_In_Frame_Del_p.K88del	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	88					anatomical structure morphogenesis (GO:0009653)|branchiomeric skeletal muscle development (GO:0014707)|cartilage development (GO:0051216)|embryonic hindlimb morphogenesis (GO:0035116)|myoblast fate commitment (GO:0048625)|pituitary gland development (GO:0021983)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCCGCCGCTGCTTCTTCTTCTTG	0.645																																						dbGAP											0										28,4236		12,4,2116						4.5	1.0			75	59,8195		29,1,4097	no	coding	PITX1	NM_002653.4		41,5,6213	A1A1,A1R,RR		0.7148,0.6567,0.695				87,12431				-	-	-	SO:0001651	inframe_deletion	0			AF009648	CCDS4182.1	5q31.1	2011-06-20	2007-07-12		ENSG00000069011	ENSG00000069011		"""Homeoboxes / PRD class"""	9004	protein-coding gene	gene with protein product		602149	"""paired-like homeodomain transcription factor 1"""	BFT		9337397, 9070926	Standard	NM_002653		Approved	PTX1, POTX	uc010jea.3	P78337	OTTHUMG00000149983	ENST00000265340.7:c.262_264delAAG	5.37:g.134367113_134367115delCTT	ENSP00000265340:p.Lys88del		A8K3M0|D3DQB0|O14677|O60425|Q9BTI5	In_Frame_Del	DEL	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain	p.K88in_frame_del	ENST00000265340.7	37	c.264_262	CCDS4182.1	5																																																																																			PITX1	-	superfamily_Homeodomain-like,pirsf_Homeobox_Pitx/unc30,pfscan_Homeodomain	ENSG00000069011		0.645	PITX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITX1	HGNC	protein_coding	OTTHUMT00000251195.3	164	0.00	0	CTT			134367104	134367106	-1	no_errors	ENST00000265340	ensembl	human	known	69_37n	in_frame_del	71	27.27	27	DEL	1.000:1.000:1.000	-
PLEKHG2	64857	genome.wustl.edu	37	19	39915205	39915205	+	Silent	SNP	A	A	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr19:39915205A>T	ENST00000409794.3	+	19	4282	c.3432A>T	c.(3430-3432)acA>acT	p.T1144T	PLEKHG2_ENST00000458508.2_Silent_p.T1085T|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Silent_p.T1115T|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1144	Pro-rich.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTACCACACCTTTGCCCC	0.607																																						dbGAP											0													92.0	83.0	86.0					19																	39915205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3432A>T	19.37:g.39915205A>T			B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H1012L	ENST00000409794.3	37	c.3035	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813766	0.32053	.	.	ENSG00000090924	ENST00000205135	.	.	.	4.37	-2.42	0.06542	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	.	5.615	0.17426	0.2946:0.5:0.2055:0.0	.	.	.	.	L	1012	.	.	H	+	2	0	PLEKHG2	44607045	0.000000	0.05858	0.000000	0.03702	0.818000	0.46254	-0.751000	0.04803	-0.275000	0.09219	0.418000	0.28097	CAC	PLEKHG2	-	NULL	ENSG00000090924		0.607	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	70	0.00	0	A	NM_022835		39915205	39915205	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000205135	ensembl	human	putative	69_37n	missense	905	28.36	392	SNP	0.000	T
PLEKHG2	64857	genome.wustl.edu	37	19	39915205	39915205	+	Silent	SNP	A	A	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr19:39915205A>T	ENST00000409794.3	+	19	4282	c.3432A>T	c.(3430-3432)acA>acT	p.T1144T	PLEKHG2_ENST00000458508.2_Silent_p.T1085T|PLEKHG2_ENST00000378550.1_Intron|PLEKHG2_ENST00000425673.1_Silent_p.T1115T|CTB-60E11.4_ENST00000601124.1_lincRNA|PLEKHG2_ENST00000409797.2_Intron	NM_022835.2	NP_073746.2	Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	1144	Pro-rich.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTACCACACCTTTGCCCC	0.607																																						dbGAP											0													92.0	83.0	86.0					19																	39915205		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK024429	CCDS33022.2	19q13.2	2013-01-11			ENSG00000090924	ENSG00000090924		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	29515	protein-coding gene	gene with protein product		611893				11839748, 18045877	Standard	NM_022835		Approved	CLG, FLJ00018, ARHGEF42	uc010xuz.2	Q9H7P9	OTTHUMG00000152570	ENST00000409794.3:c.3432A>T	19.37:g.39915205A>T			B8ZZK6|C9J0Y4|Q6DHV6|Q96BU2|Q96D18|Q9H699	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.H1012L	ENST00000409794.3	37	c.3035	CCDS33022.2	19	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813766	0.32053	.	.	ENSG00000090924	ENST00000205135	.	.	.	4.37	-2.42	0.06542	.	.	.	.	.	T	0.23451	0.0567	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32134	-0.9918	4	.	.	.	.	5.615	0.17426	0.2946:0.5:0.2055:0.0	.	.	.	.	L	1012	.	.	H	+	2	0	PLEKHG2	44607045	0.000000	0.05858	0.000000	0.03702	0.818000	0.46254	-0.751000	0.04803	-0.275000	0.09219	0.418000	0.28097	CAC	PLEKHG2	-	NULL	ENSG00000090924		0.607	PLEKHG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG2	HGNC	protein_coding	OTTHUMT00000326802.1	89	0.00	0	A	NM_022835		39915205	39915205	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000205135	ensembl	human	putative	69_37n	missense	383	29.51	162	SNP	0.000	T
PLA2G4C	8605	genome.wustl.edu	37	19	48578070	48578070	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr19:48578070G>A	ENST00000599921.1	-	12	1317	c.960C>T	c.(958-960)acC>acT	p.T320T	PLA2G4C_ENST00000413144.2_Silent_p.T320T|PLA2G4C_ENST00000599111.1_Silent_p.T330T|PLA2G4C_ENST00000354276.3_Silent_p.T320T|PLA2G4C_ENST00000596510.1_5'Flank			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	320	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTTCCAGGGAGGTCCTGGTCC	0.522																																						dbGAP											0													231.0	194.0	206.0					19																	48578070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.960C>T	19.37:g.48578070G>A			B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.T320	ENST00000599921.1	37	c.960	CCDS12710.1	19																																																																																			PLA2G4C	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000105499		0.522	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	HGNC	protein_coding	OTTHUMT00000465551.1	151	0.00	0	G			48578070	48578070	-1	no_errors	ENST00000413144	ensembl	human	known	69_37n	silent	46	80.75	193	SNP	0.000	A
PLA2G4C	8605	genome.wustl.edu	37	19	48578070	48578070	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr19:48578070G>A	ENST00000599921.1	-	12	1317	c.960C>T	c.(958-960)acC>acT	p.T320T	PLA2G4C_ENST00000413144.2_Silent_p.T320T|PLA2G4C_ENST00000599111.1_Silent_p.T330T|PLA2G4C_ENST00000354276.3_Silent_p.T320T|PLA2G4C_ENST00000596510.1_5'Flank			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	320	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTTCCAGGGAGGTCCTGGTCC	0.522																																						dbGAP											0													231.0	194.0	206.0					19																	48578070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.960C>T	19.37:g.48578070G>A			B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.T320	ENST00000599921.1	37	c.960	CCDS12710.1	19																																																																																			PLA2G4C	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000105499		0.522	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	HGNC	protein_coding	OTTHUMT00000465551.1	84	0.00	0	G			48578070	48578070	-1	no_errors	ENST00000413144	ensembl	human	known	69_37n	silent	7	87.72	50	SNP	0.000	A
PLA2G4C	8605	genome.wustl.edu	37	19	48578070	48578070	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr19:48578070G>A	ENST00000599921.1	-	12	1317	c.960C>T	c.(958-960)acC>acT	p.T320T	PLA2G4C_ENST00000413144.2_Silent_p.T320T|PLA2G4C_ENST00000599111.1_Silent_p.T330T|PLA2G4C_ENST00000354276.3_Silent_p.T320T|PLA2G4C_ENST00000596510.1_5'Flank			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	320	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTTCCAGGGAGGTCCTGGTCC	0.522																																						dbGAP											0													231.0	194.0	206.0					19																	48578070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.960C>T	19.37:g.48578070G>A			B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Silent	SNP	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	p.T320	ENST00000599921.1	37	c.960	CCDS12710.1	19																																																																																			PLA2G4C	-	superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom	ENSG00000105499		0.522	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLA2G4C	HGNC	protein_coding	OTTHUMT00000465551.1	153	0.65	1	G			48578070	48578070	-1	no_errors	ENST00000413144	ensembl	human	known	69_37n	silent	46	80.75	193	SNP	0.000	A
PLEKHG4B	153478	genome.wustl.edu	37	5	171449	171449	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr5:171449C>G	ENST00000283426.6	+	14	2922	c.2872C>G	c.(2872-2874)Ctg>Gtg	p.L958V		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	958	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGCTGTGGCCTGGCCCAGGG	0.672																																						dbGAP											0													25.0	27.0	26.0					5																	171449		2200	4297	6497	-	-	-	SO:0001583	missense	0			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2872C>G	5.37:g.171449C>G	ENSP00000283426:p.Leu958Val			Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L958V	ENST00000283426.6	37	c.2872	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042186	0.01997	.	.	ENSG00000153404	ENST00000283426	T	0.29917	1.55	2.92	0.373	0.16178	Dbl homology (DH) domain (4);	.	.	.	.	T	0.11367	0.0277	N	0.03608	-0.345	0.09310	N	1	B	0.23316	0.083	B	0.27380	0.079	T	0.27226	-1.0080	9	0.34782	T	0.22	.	0.7712	0.01024	0.2901:0.3679:0.1788:0.1633	.	958	Q96PX9	PKH4B_HUMAN	V	958	ENSP00000283426:L958V	ENSP00000283426:L958V	L	+	1	2	PLEKHG4B	224449	0.000000	0.05858	0.005000	0.12908	0.060000	0.15804	0.240000	0.18042	0.181000	0.19994	0.313000	0.20887	CTG	PLEKHG4B	-	superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000153404		0.672	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	32	0.00	0	C	NM_052909		171449	171449	+1	no_errors	ENST00000283426	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	0.001	G
PLXNA2	5362	genome.wustl.edu	37	1	208207852	208207852	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:208207852G>A	ENST00000367033.3	-	27	5607	c.4850C>T	c.(4849-4851)tCc>tTc	p.S1617F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1617					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGCTGATGGACGTCCGGGA	0.587																																						dbGAP											0													95.0	85.0	89.0					1																	208207852		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4850C>T	1.37:g.208207852G>A	ENSP00000356000:p.Ser1617Phe		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S1617F	ENST00000367033.3	37	c.4850	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885501	0.91814	.	.	ENSG00000076356	ENST00000367033	T	0.01076	5.37	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.108534	0.64402	D	0.000004	T	0.09335	0.0230	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00891	-1.1525	10	0.87932	D	0	.	18.6974	0.91605	0.0:0.0:1.0:0.0	.	1617	O75051	PLXA2_HUMAN	F	1617	ENSP00000356000:S1617F	ENSP00000356000:S1617F	S	-	2	0	PLXNA2	206274475	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.108000	0.94275	2.413000	0.81919	0.650000	0.86243	TCC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	144	0.00	0	G	NM_025179		208207852	208207852	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	369	18.50	84	SNP	1.000	A
PLXNA2	5362	genome.wustl.edu	37	1	208207852	208207852	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:208207852G>A	ENST00000367033.3	-	27	5607	c.4850C>T	c.(4849-4851)tCc>tTc	p.S1617F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1617					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGCTGATGGACGTCCGGGA	0.587																																						dbGAP											0													95.0	85.0	89.0					1																	208207852		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4850C>T	1.37:g.208207852G>A	ENSP00000356000:p.Ser1617Phe		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S1617F	ENST00000367033.3	37	c.4850	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885501	0.91814	.	.	ENSG00000076356	ENST00000367033	T	0.01076	5.37	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.108534	0.64402	D	0.000004	T	0.09335	0.0230	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00891	-1.1525	10	0.87932	D	0	.	18.6974	0.91605	0.0:0.0:1.0:0.0	.	1617	O75051	PLXA2_HUMAN	F	1617	ENSP00000356000:S1617F	ENSP00000356000:S1617F	S	-	2	0	PLXNA2	206274475	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.108000	0.94275	2.413000	0.81919	0.650000	0.86243	TCC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	70	0.00	0	G	NM_025179		208207852	208207852	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	92	16.36	18	SNP	1.000	A
PLXNA2	5362	genome.wustl.edu	37	1	208207852	208207852	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:208207852G>A	ENST00000367033.3	-	27	5607	c.4850C>T	c.(4849-4851)tCc>tTc	p.S1617F		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1617					axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TCTGCTGATGGACGTCCGGGA	0.587																																						dbGAP											0													95.0	85.0	89.0					1																	208207852		2203	4300	6503	-	-	-	SO:0001583	missense	0			X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.4850C>T	1.37:g.208207852G>A	ENSP00000356000:p.Ser1617Phe		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.S1617F	ENST00000367033.3	37	c.4850	CCDS31013.1	1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885501	0.91814	.	.	ENSG00000076356	ENST00000367033	T	0.01076	5.37	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.108534	0.64402	D	0.000004	T	0.09335	0.0230	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.00891	-1.1525	10	0.87932	D	0	.	18.6974	0.91605	0.0:0.0:1.0:0.0	.	1617	O75051	PLXA2_HUMAN	F	1617	ENSP00000356000:S1617F	ENSP00000356000:S1617F	S	-	2	0	PLXNA2	206274475	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	9.108000	0.94275	2.413000	0.81919	0.650000	0.86243	TCC	PLXNA2	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000076356		0.587	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA2	HGNC	protein_coding	OTTHUMT00000088932.6	210	0.47	1	G	NM_025179		208207852	208207852	-1	no_errors	ENST00000367033	ensembl	human	known	69_37n	missense	369	18.50	84	SNP	1.000	A
PRMT5	10419	genome.wustl.edu	37	14	23398540	23398540	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr14:23398540C>A	ENST00000324366.8	-	1	254	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PRMT5_ENST00000397440.4_5'UTR|PRMT5_ENST00000538452.1_5'UTR|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000216350.8_5'UTR|PRMT5_ENST00000397441.2_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.G11W|RP11-298I3.1_ENST00000548819.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	11					cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACGCGGCTCCCACCAGCACCC	0.622																																						dbGAP											0													37.0	31.0	33.0					14																	23398540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.31G>T	14.37:g.23398540C>A	ENSP00000319169:p.Gly11Trp		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.G11W	ENST00000324366.8	37	c.31	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363274	0.61513	.	.	ENSG00000100462	ENST00000324366;ENST00000553897;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000421938	.	.	.	5.52	4.6	0.57074	.	0.150956	0.64402	D	0.000020	T	0.51534	0.1680	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.66351	0.943;0.914	T	0.60732	-0.7205	9	0.87932	D	0	-18.3943	14.8832	0.70547	0.1434:0.8565:0.0:0.0	.	11;11	G3V5W5;O14744	.;ANM5_HUMAN	W	11	.	ENSP00000319169:G11W	G	-	1	0	PRMT5	22468380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.136000	0.64783	2.873000	0.98535	0.563000	0.77884	GGG	PRMT5	-	pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.622	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	23	0.00	0	C			23398540	23398540	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	1.000	A
PRMT5	10419	genome.wustl.edu	37	14	23398540	23398540	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr14:23398540C>A	ENST00000324366.8	-	1	254	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PRMT5_ENST00000397440.4_5'UTR|PRMT5_ENST00000538452.1_5'UTR|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000216350.8_5'UTR|PRMT5_ENST00000397441.2_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.G11W|RP11-298I3.1_ENST00000548819.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	11					cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACGCGGCTCCCACCAGCACCC	0.622																																						dbGAP											0													37.0	31.0	33.0					14																	23398540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.31G>T	14.37:g.23398540C>A	ENSP00000319169:p.Gly11Trp		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.G11W	ENST00000324366.8	37	c.31	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363274	0.61513	.	.	ENSG00000100462	ENST00000324366;ENST00000553897;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000421938	.	.	.	5.52	4.6	0.57074	.	0.150956	0.64402	D	0.000020	T	0.51534	0.1680	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.66351	0.943;0.914	T	0.60732	-0.7205	9	0.87932	D	0	-18.3943	14.8832	0.70547	0.1434:0.8565:0.0:0.0	.	11;11	G3V5W5;O14744	.;ANM5_HUMAN	W	11	.	ENSP00000319169:G11W	G	-	1	0	PRMT5	22468380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.136000	0.64783	2.873000	0.98535	0.563000	0.77884	GGG	PRMT5	-	pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.622	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	104	0.00	0	C			23398540	23398540	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	missense	43	44.16	34	SNP	1.000	A
PRMT5	10419	genome.wustl.edu	37	14	23398540	23398540	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr14:23398540C>A	ENST00000324366.8	-	1	254	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PRMT5_ENST00000397440.4_5'UTR|PRMT5_ENST00000538452.1_5'UTR|RP11-298I3.1_ENST00000548322.1_RNA|PRMT5_ENST00000216350.8_5'UTR|PRMT5_ENST00000397441.2_5'UTR|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.G11W|RP11-298I3.1_ENST00000548819.1_RNA	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	11					cell proliferation (GO:0008283)|circadian regulation of gene expression (GO:0032922)|endothelial cell activation (GO:0042118)|gene expression (GO:0010467)|histone H4-R3 methylation (GO:0043985)|ncRNA metabolic process (GO:0034660)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|peptidyl-arginine N-methylation (GO:0035246)|regulation of mitosis (GO:0007088)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|methylosome (GO:0034709)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter sequence-specific DNA binding (GO:0001046)|histone-arginine N-methyltransferase activity (GO:0008469)|methyltransferase activity (GO:0008168)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|transcription corepressor activity (GO:0003714)			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACGCGGCTCCCACCAGCACCC	0.622																																						dbGAP											0													37.0	31.0	33.0					14																	23398540		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF015913	CCDS9579.1, CCDS41922.1, CCDS61394.1, CCDS61395.1, CCDS61396.1	14q11.2	2014-06-12	2006-02-16	2006-02-16	ENSG00000100462	ENSG00000100462	2.1.1.125	"""Protein arginine methyltransferases"""	10894	protein-coding gene	gene with protein product		604045	"""skb1 (S. pombe) homolog"", ""SKB1 homolog (S. pombe)"""	HRMT1L5, SKB1		9843966	Standard	NM_001282955		Approved	SKB1Hs	uc001whm.1	O14744	OTTHUMG00000028709	ENST00000324366.8:c.31G>T	14.37:g.23398540C>A	ENSP00000319169:p.Gly11Trp		A8MTP3|A8MZ91|B4DX49|B4DY30|B5BU10|D3DS33|E2QRE7|Q6IBR1|Q9UKH1	Missense_Mutation	SNP	pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5	p.G11W	ENST00000324366.8	37	c.31	CCDS9579.1	14	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363274	0.61513	.	.	ENSG00000100462	ENST00000324366;ENST00000553897;ENST00000553550;ENST00000554867;ENST00000556616;ENST00000421938	.	.	.	5.52	4.6	0.57074	.	0.150956	0.64402	D	0.000020	T	0.51534	0.1680	N	0.08118	0	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.66351	0.943;0.914	T	0.60732	-0.7205	9	0.87932	D	0	-18.3943	14.8832	0.70547	0.1434:0.8565:0.0:0.0	.	11;11	G3V5W5;O14744	.;ANM5_HUMAN	W	11	.	ENSP00000319169:G11W	G	-	1	0	PRMT5	22468380	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.136000	0.64783	2.873000	0.98535	0.563000	0.77884	GGG	PRMT5	-	pirsf_Arg_MeTrfase_PRMT5	ENSG00000100462		0.622	PRMT5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT5	HGNC	protein_coding	OTTHUMT00000071674.3	27	0.00	0	C			23398540	23398540	-1	no_errors	ENST00000324366	ensembl	human	known	69_37n	missense	42	28.81	17	SNP	1.000	A
PROSER1	80209	genome.wustl.edu	37	13	39587682	39587682	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr13:39587682C>T	ENST00000352251.3	-	11	2540	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	PROSER1_ENST00000350125.3_Silent_p.T547T|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	569	Ser-rich.																CTGGCACTGACGTGGAAGCTG	0.572																																						dbGAP											0													87.0	91.0	90.0					13																	39587682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1707G>A	13.37:g.39587682C>T			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	NULL	p.T547	ENST00000352251.3	37	c.1641	CCDS9368.2	13																																																																																			PROSER1	-	NULL	ENSG00000120685		0.572	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	105	0.00	0	C	NM_025138		39587682	39587682	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	silent	85	41.38	60	SNP	0.000	T
PROSER1	80209	genome.wustl.edu	37	13	39587682	39587682	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr13:39587682C>T	ENST00000352251.3	-	11	2540	c.1707G>A	c.(1705-1707)acG>acA	p.T569T	PROSER1_ENST00000350125.3_Silent_p.T547T|PROSER1_ENST00000484434.3_Intron	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	569	Ser-rich.																CTGGCACTGACGTGGAAGCTG	0.572																																						dbGAP											0													87.0	91.0	90.0					13																	39587682		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.1707G>A	13.37:g.39587682C>T			A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Silent	SNP	NULL	p.T547	ENST00000352251.3	37	c.1641	CCDS9368.2	13																																																																																			PROSER1	-	NULL	ENSG00000120685		0.572	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	47	0.00	0	C	NM_025138		39587682	39587682	-1	no_errors	ENST00000350125	ensembl	human	known	69_37n	silent	25	26.47	9	SNP	0.000	T
PSD3	23362	genome.wustl.edu	37	8	18430065	18430065	+	Silent	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr8:18430065C>G	ENST00000327040.8	-	14	2859	c.2757G>C	c.(2755-2757)ctG>ctC	p.L919L	PSD3_ENST00000286485.8_Silent_p.L385L|PSD3_ENST00000523619.1_Silent_p.L854L|PSD3_ENST00000428502.2_Silent_p.L248L|PSD3_ENST00000440756.2_Silent_p.L921L	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	920					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TAGTGGCAGGCAGAAGTGGGC	0.403																																						dbGAP											0													125.0	133.0	130.0					8																	18430065		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2757G>C	8.37:g.18430065C>G			A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Silent	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.L921	ENST00000327040.8	37	c.2763	CCDS43720.1	8																																																																																			PSD3	-	NULL	ENSG00000156011		0.403	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PSD3	HGNC	protein_coding	OTTHUMT00000374867.1	231	0.86	2	C	NM_015310		18430065	18430065	-1	no_errors	ENST00000440756	ensembl	human	known	69_37n	silent	72	50.34	74	SNP	1.000	G
PTPRQ	374462	genome.wustl.edu	37	12	80899850	80899850	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr12:80899850delG	ENST00000266688.5	+	20	2308	c.2308delG	c.(2308-2310)ggafs	p.G770fs				Q9UMZ3	PTPRQ_HUMAN	protein tyrosine phosphatase, receptor type, Q	816	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				regulation of fat cell differentiation (GO:0045598)	integral component of membrane (GO:0016021)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(7)|kidney(9)|lung(2)|prostate(1)|skin(2)|stomach(2)	24						TATTTCTTCTGGAGAGATTGA	0.313																																						dbGAP											0													50.0	39.0	43.0					12																	80899850		692	1581	2273	-	-	-	SO:0001589	frameshift_variant	0			AF169351	CCDS73501.1	12q21.31	2013-02-11	2001-12-04		ENSG00000139304	ENSG00000139304		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9679	protein-coding gene	gene with protein product		603317	"""deafness, autosomal recessive 84"""	DFNB84		20346435	Standard	NM_001145026		Approved		uc001sze.2	Q9UMZ3	OTTHUMG00000170171	ENST00000266688.5:c.2308delG	12.37:g.80899850delG	ENSP00000266688:p.Gly770fs			Frame_Shift_Del	DEL	pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.G770fs	ENST00000266688.5	37	c.2308		12																																																																																			PTPRQ	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000139304		0.313	PTPRQ-201	KNOWN	basic|appris_principal	protein_coding	PTPRQ	HGNC	protein_coding		56	0.00	0	G	NM_001145026		80899850	80899850	+1	no_errors	ENST00000266688	ensembl	human	known	69_37n	frame_shift_del	14	12.50	2	DEL	1.000	-
PTPRU	10076	genome.wustl.edu	37	1	29609420	29609420	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:29609420G>A	ENST00000345512.3	+	12	2230	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	PTPRU_ENST00000373779.3_Missense_Mutation_p.A701T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A701T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A701T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A701T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A701T|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	701					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCTAGGAAGGCCTATCTCAT	0.622																																						dbGAP											0													66.0	68.0	67.0					1																	29609420		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2101G>A	1.37:g.29609420G>A	ENSP00000334941:p.Ala701Thr		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A701T	ENST00000345512.3	37	c.2101	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332352	0.60853	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.31247	1.53;1.56;1.56;1.56;1.5;1.56	5.39	2.27	0.28462	.	0.350619	0.30003	N	0.010649	T	0.21427	0.0516	L	0.34521	1.04	0.34680	D	0.724625	B;P;B;B;B	0.36959	0.348;0.575;0.348;0.44;0.44	B;B;B;B;B	0.33042	0.157;0.157;0.157;0.075;0.075	T	0.18713	-1.0328	9	.	.	.	.	13.6124	0.62088	0.0:0.0:0.6268:0.3732	.	701;701;701;701;701	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	701	ENSP00000334941:A701T;ENSP00000362884:A701T;ENSP00000349333:A701T;ENSP00000314987:A701T;ENSP00000392332:A701T;ENSP00000432906:A701T	.	A	+	1	0	PTPRU	29482007	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.755000	0.55197	0.169000	0.19679	0.448000	0.29417	GCC	PTPRU	-	NULL	ENSG00000060656		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	12	0.00	0	G			29609420	29609420	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	57	22.37	17	SNP	1.000	A
PTPRU	10076	genome.wustl.edu	37	1	29609420	29609420	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:29609420G>A	ENST00000345512.3	+	12	2230	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	PTPRU_ENST00000373779.3_Missense_Mutation_p.A701T|PTPRU_ENST00000323874.8_Missense_Mutation_p.A701T|PTPRU_ENST00000428026.2_Missense_Mutation_p.A701T|PTPRU_ENST00000356870.3_Missense_Mutation_p.A701T|PTPRU_ENST00000460170.2_Missense_Mutation_p.A701T|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	701					canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCTAGGAAGGCCTATCTCAT	0.622																																						dbGAP											0													66.0	68.0	67.0					1																	29609420		2203	4300	6503	-	-	-	SO:0001583	missense	0			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2101G>A	1.37:g.29609420G>A	ENSP00000334941:p.Ala701Thr		A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.A701T	ENST00000345512.3	37	c.2101	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.332352	0.60853	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.31247	1.53;1.56;1.56;1.56;1.5;1.56	5.39	2.27	0.28462	.	0.350619	0.30003	N	0.010649	T	0.21427	0.0516	L	0.34521	1.04	0.34680	D	0.724625	B;P;B;B;B	0.36959	0.348;0.575;0.348;0.44;0.44	B;B;B;B;B	0.33042	0.157;0.157;0.157;0.075;0.075	T	0.18713	-1.0328	9	.	.	.	.	13.6124	0.62088	0.0:0.0:0.6268:0.3732	.	701;701;701;701;701	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	T	701	ENSP00000334941:A701T;ENSP00000362884:A701T;ENSP00000349333:A701T;ENSP00000314987:A701T;ENSP00000392332:A701T;ENSP00000432906:A701T	.	A	+	1	0	PTPRU	29482007	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	3.755000	0.55197	0.169000	0.19679	0.448000	0.29417	GCC	PTPRU	-	NULL	ENSG00000060656		0.622	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	58	0.00	0	G			29609420	29609420	+1	no_errors	ENST00000345512	ensembl	human	known	69_37n	missense	45	25.81	16	SNP	1.000	A
PXT1	222659	genome.wustl.edu	37	6	36393724	36393724	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr6:36393724A>G	ENST00000454782.2	-	3	619	c.136T>C	c.(136-138)Tcc>Ccc	p.S46P		NM_152990.3	NP_694535.2	Q8NFP0	PXT1_HUMAN	peroxisomal, testis specific 1	46					positive regulation of apoptotic process (GO:0043065)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|peroxisome (GO:0005777)											ACTGGCTGGGAGCTGACAAGT	0.378																																						dbGAP											0													131.0	122.0	125.0					6																	36393724		692	1591	2283	-	-	-	SO:0001583	missense	0			AF486827	CCDS4820.2	6p21.31	2004-04-30			ENSG00000179165	ENSG00000179165			18312	protein-coding gene	gene with protein product							Standard	NM_152990		Approved	STEPP	uc003omd.2	Q8NFP0	OTTHUMG00000159815	ENST00000454782.2:c.136T>C	6.37:g.36393724A>G	ENSP00000419944:p.Ser46Pro		J3KR74	Missense_Mutation	SNP	NULL	p.S46P	ENST00000454782.2	37	c.136	CCDS4820.2	6	.	.	.	.	.	.	.	.	.	.	A	13.91	2.379082	0.42207	.	.	ENSG00000179165	ENST00000454782	.	.	.	4.85	-2.59	0.06209	.	.	.	.	.	T	0.11580	0.0282	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.38993	-0.9635	5	0.87932	D	0	.	0.1546	0.00097	0.3089:0.1538:0.1907:0.3466	.	.	.	.	P	46	.	ENSP00000419944:S46P	S	-	1	0	PXT1	36501702	0.006000	0.16342	0.011000	0.14972	0.992000	0.81027	-0.010000	0.12743	-0.176000	0.10707	0.459000	0.35465	TCC	PXT1	-	NULL	ENSG00000179165		0.378	PXT1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	PXT1	HGNC	protein_coding	OTTHUMT00000357516.2	243	0.41	1	A	NM_152990		36393724	36393724	-1	no_errors	ENST00000454782	ensembl	human	putative	69_37n	missense	219	44.72	178	SNP	0.003	G
R3HCC1	203069	genome.wustl.edu	37	8	23147408	23147408	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr8:23147408C>G	ENST00000411463.1	+	5	398	c.398C>G	c.(397-399)cCc>cGc	p.P133R	R3HCC1_ENST00000522012.1_3'UTR|R3HCC1_ENST00000518454.1_5'UTR|R3HCC1_ENST00000265806.6_5'UTR			Q9Y3T6	R3HC1_HUMAN	R3H domain and coiled-coil containing 1	133							nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)			central_nervous_system(1)|skin(2)	3						CTCTCTGGCCCCTGCCGCGCT	0.637																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS47826.1	8p21.3	2012-05-23		2005-11-20	ENSG00000104679	ENSG00000104679			27329	protein-coding gene	gene with protein product						12477932	Standard	XM_005273427		Approved	DKFZp564N123	uc003xdf.3	Q9Y3T6	OTTHUMG00000163786	ENST00000411463.1:c.398C>G	8.37:g.23147408C>G	ENSP00000397555:p.Pro133Arg		B7ZLI1	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.P133R	ENST00000411463.1	37	c.398		8	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672607	0.67928	.	.	ENSG00000104679	ENST00000411463	T	0.15017	2.46	5.71	4.82	0.62117	.	0.739029	0.13660	N	0.371689	T	0.30510	0.0767	.	.	.	0.32624	N	0.522995	.	.	.	.	.	.	T	0.38436	-0.9661	7	0.72032	D	0.01	-11.0258	13.0052	0.58701	0.1615:0.8385:0.0:0.0	.	.	.	.	R	133	ENSP00000397555:P133R	ENSP00000397555:P133R	P	+	2	0	R3HCC1	23203353	0.771000	0.28555	1.000000	0.80357	0.915000	0.54546	2.426000	0.44731	1.364000	0.46038	0.655000	0.94253	CCC	R3HCC1	-	NULL	ENSG00000104679		0.637	R3HCC1-201	KNOWN	basic|appris_principal	protein_coding	R3HCC1	HGNC	protein_coding		99	0.00	0	C	NM_001136108		23147408	23147408	+1	no_errors	ENST00000411463	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	1.000	G
RAPGEF2	9693	genome.wustl.edu	37	4	160162389	160162389	+	3'UTR	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr4:160162389C>T	ENST00000504604.1	+	0	217							Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2						adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATATTTTCAGCGGCAAGCTTC	0.363																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000504604.1:c.*214C>T	4.37:g.160162389C>T			D3DP27	Missense_Mutation	SNP	superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.R127W	ENST00000504604.1	37	c.379		4	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659473	0.88154	.	.	ENSG00000109756	ENST00000505478	T	0.21734	1.99	5.4	4.54	0.55810	.	.	.	.	.	T	0.40886	0.1135	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.33111	-0.9881	6	0.54805	T	0.06	.	15.6357	0.76949	0.1385:0.8615:0.0:0.0	.	.	.	.	W	127	ENSP00000422707:R127W	ENSP00000422707:R127W	R	+	1	2	RAPGEF2	160381839	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	7.473000	0.81007	1.365000	0.46057	0.655000	0.94253	CGG	RAPGEF2	-	superfamily_cNMP-bd-like	ENSG00000109756		0.363	RAPGEF2-004	KNOWN	basic	processed_transcript	RAPGEF2	HGNC	protein_coding	OTTHUMT00000365013.1	73	0.00	0	C	NM_014247		160162389	160162389	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000505478	ensembl	human	putative	69_37n	missense	23	50.00	23	SNP	1.000	T
RBMXL1	494115	genome.wustl.edu	37	1	89448782	89448782	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:89448782T>G	ENST00000321792.5	-	2	1155	c.728A>C	c.(727-729)tAc>tCc	p.Y243S	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y243S|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	243					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATAATCACGGTAAGTATAATC	0.423																																						dbGAP											0													173.0	153.0	159.0					1																	89448782		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.728A>C	1.37:g.89448782T>G	ENSP00000318415:p.Tyr243Ser			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.Y243S	ENST00000321792.5	37	c.728	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705206	0.68615	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.76	0.525	0.17072	.	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	M	0.74881	2.28	0.40124	D	0.976631	D	0.67145	0.996	D	0.63877	0.919	T	0.74636	-0.3599	10	0.66056	D	0.02	.	4.7816	0.13204	0.0:0.1894:0.0:0.8106	.	243	Q96E39	RBMXL_HUMAN	S	243	ENSP00000318415:Y243S;ENSP00000446099:Y243S	ENSP00000318415:Y243S	Y	-	2	0	RBMXL1	89221370	1.000000	0.71417	0.183000	0.23137	0.714000	0.41099	5.062000	0.64326	-0.013000	0.14199	0.254000	0.18369	TAC	RBMXL1	-	NULL	ENSG00000213516		0.423	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	369	0.00	0	T	NM_019610		89448782	89448782	-1	no_errors	ENST00000321792	ensembl	human	known	69_37n	missense	349	37.68	211	SNP	1.000	G
RBMXL1	494115	genome.wustl.edu	37	1	89448782	89448782	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:89448782T>G	ENST00000321792.5	-	2	1155	c.728A>C	c.(727-729)tAc>tCc	p.Y243S	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y243S|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	243					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATAATCACGGTAAGTATAATC	0.423																																						dbGAP											0													173.0	153.0	159.0					1																	89448782		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.728A>C	1.37:g.89448782T>G	ENSP00000318415:p.Tyr243Ser			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.Y243S	ENST00000321792.5	37	c.728	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705206	0.68615	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.76	0.525	0.17072	.	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	M	0.74881	2.28	0.40124	D	0.976631	D	0.67145	0.996	D	0.63877	0.919	T	0.74636	-0.3599	10	0.66056	D	0.02	.	4.7816	0.13204	0.0:0.1894:0.0:0.8106	.	243	Q96E39	RBMXL_HUMAN	S	243	ENSP00000318415:Y243S;ENSP00000446099:Y243S	ENSP00000318415:Y243S	Y	-	2	0	RBMXL1	89221370	1.000000	0.71417	0.183000	0.23137	0.714000	0.41099	5.062000	0.64326	-0.013000	0.14199	0.254000	0.18369	TAC	RBMXL1	-	NULL	ENSG00000213516		0.423	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	142	0.70	1	T	NM_019610		89448782	89448782	-1	no_errors	ENST00000321792	ensembl	human	known	69_37n	missense	68	34.29	36	SNP	1.000	G
RBMXL1	494115	genome.wustl.edu	37	1	89448782	89448782	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:89448782T>G	ENST00000321792.5	-	2	1155	c.728A>C	c.(727-729)tAc>tCc	p.Y243S	RBMXL1_ENST00000413769.1_5'Flank|CCBL2_ENST00000370491.3_Intron|CCBL2_ENST00000370485.2_Intron|RBMXL1_ENST00000399794.2_Missense_Mutation_p.Y243S|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron	NM_019610.5	NP_062556.2	Q96E39	RMXL1_HUMAN	RNA binding motif protein, X-linked-like 1	243					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)										ATAATCACGGTAAGTATAATC	0.423																																						dbGAP											0													173.0	153.0	159.0					1																	89448782		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC012942	CCDS716.1	1p22.2	2013-02-12	2007-01-04	2007-01-04	ENSG00000213516	ENSG00000213516		"""RNA binding motif (RRM) containing"""	25073	protein-coding gene	gene with protein product	"""kynurenine aminotransferase III"""					10441733	Standard	NM_019610		Approved	KAT3	uc001dms.3	Q96E39	OTTHUMG00000010661	ENST00000321792.5:c.728A>C	1.37:g.89448782T>G	ENSP00000318415:p.Tyr243Ser			Missense_Mutation	SNP	pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.Y243S	ENST00000321792.5	37	c.728	CCDS716.1	1	.	.	.	.	.	.	.	.	.	.	T	18.82	3.705206	0.68615	.	.	ENSG00000213516	ENST00000321792;ENST00000399794	T;T	0.76709	-1.04;-1.04	1.76	0.525	0.17072	.	0.000000	0.85682	D	0.000000	T	0.76104	0.3941	M	0.74881	2.28	0.40124	D	0.976631	D	0.67145	0.996	D	0.63877	0.919	T	0.74636	-0.3599	10	0.66056	D	0.02	.	4.7816	0.13204	0.0:0.1894:0.0:0.8106	.	243	Q96E39	RBMXL_HUMAN	S	243	ENSP00000318415:Y243S;ENSP00000446099:Y243S	ENSP00000318415:Y243S	Y	-	2	0	RBMXL1	89221370	1.000000	0.71417	0.183000	0.23137	0.714000	0.41099	5.062000	0.64326	-0.013000	0.14199	0.254000	0.18369	TAC	RBMXL1	-	NULL	ENSG00000213516		0.423	RBMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL1	HGNC	protein_coding	OTTHUMT00000029403.3	387	0.26	1	T	NM_019610		89448782	89448782	-1	no_errors	ENST00000321792	ensembl	human	known	69_37n	missense	349	37.68	211	SNP	1.000	G
REV1	51455	genome.wustl.edu	37	2	100050895	100050895	+	Missense_Mutation	SNP	A	A	C	rs201634760		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:100050895A>C	ENST00000258428.3	-	8	1565	c.1337T>G	c.(1336-1338)gTt>gGt	p.V446G	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_Missense_Mutation_p.V446G	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	446	UmuC. {ECO:0000255|PROSITE- ProRule:PRU00216}.				DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA-dependent DNA replication (GO:0006261)|error-prone translesion synthesis (GO:0042276)|response to UV (GO:0009411)	nucleoplasm (GO:0005654)	damaged DNA binding (GO:0003684)|deoxycytidyl transferase activity (GO:0017125)|DNA-directed DNA polymerase activity (GO:0003887)|magnesium ion binding (GO:0000287)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GTTACTTGTAACAGCCACTGG	0.398								Direct reversal of damage																														dbGAP											0													61.0	64.0	63.0					2																	100050895		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF206019	CCDS2045.1, CCDS42722.1	2q11.1-q11.2	2012-05-18	2012-05-18	2006-11-07	ENSG00000135945	ENSG00000135945		"""DNA polymerases"""	14060	protein-coding gene	gene with protein product		606134	"""REV1 (yeast homolog)- like"", ""REV1-like (yeast)"", ""REV1 homolog (S. cerevisiae)"""	REV1L		10536157	Standard	XM_005263968		Approved		uc002tad.3	Q9UBZ9	OTTHUMG00000130636	ENST00000258428.3:c.1337T>G	2.37:g.100050895A>C	ENSP00000258428:p.Val446Gly		O95941|Q53SI7|Q9C0J4|Q9NUP2	Missense_Mutation	SNP	pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_DNA_pol_Y-fam_little_finger,smart_BRCT_dom,pirsf_REV1,pfscan_BRCT_dom,pfscan_DNA_repair_prot_UmuC-like_N	p.V446G	ENST00000258428.3	37	c.1337	CCDS2045.1	2	.	.	.	.	.	.	.	.	.	.	A	23.7	4.445783	0.84101	.	.	ENSG00000135945	ENST00000393445;ENST00000258428;ENST00000450415	D;D;D	0.84370	-1.84;-1.84;-1.84	5.93	5.93	0.95920	DNA-repair protein, UmuC-like, N-terminal (1);DNA-repair protein, UmuC-like (1);	0.000000	0.85682	D	0.000000	D	0.95376	0.8499	H	0.97635	4.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96975	0.9711	10	0.87932	D	0	.	16.3766	0.83401	1.0:0.0:0.0:0.0	.	446;446	Q9UBZ9;Q9UBZ9-2	REV1_HUMAN;.	G	446;446;84	ENSP00000377091:V446G;ENSP00000258428:V446G;ENSP00000414875:V84G	ENSP00000258428:V446G	V	-	2	0	REV1	99417327	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.022000	0.88759	2.263000	0.75096	0.533000	0.62120	GTT	REV1	-	pfam_DNA_repair_prot_UmuC-like,pirsf_REV1,pfscan_DNA_repair_prot_UmuC-like_N	ENSG00000135945		0.398	REV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REV1	HGNC	protein_coding	OTTHUMT00000253123.2	111	0.89	1	A	NM_016316		100050895	100050895	-1	no_errors	ENST00000258428	ensembl	human	known	69_37n	missense	100	39.76	66	SNP	1.000	C
RFX3	5991	genome.wustl.edu	37	9	3346746	3346747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr9:3346746_3346747insA	ENST00000382004.3	-	4	446_447	c.135_136insT	c.(133-138)actgtgfs	p.V46fs	RFX3_ENST00000358730.2_Frame_Shift_Ins_p.V46fs|RFX3_ENST00000302303.1_Frame_Shift_Ins_p.V46fs|RFX3_ENST00000381984.2_Frame_Shift_Ins_p.V46fs	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	46					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ACCTGCTGCACAGTCTGTACCT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.136dupT	9.37:g.3346747_3346747dupA	ENSP00000371434:p.Val46fs		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Frame_Shift_Ins	INS	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.V45fs	ENST00000382004.3	37	c.136_135	CCDS6449.1	9																																																																																			RFX3	-	pfam_RFX1_trans_act	ENSG00000080298		0.416	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	117	0.00	0	-	NM_002919		3346746	3346747	-1	no_errors	ENST00000382004	ensembl	human	known	69_37n	frame_shift_ins	317	10.45	37	INS	1.000:1.000	A
RFX3	5991	genome.wustl.edu	37	9	3346746	3346747	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr9:3346746_3346747insA	ENST00000382004.3	-	4	446_447	c.135_136insT	c.(133-138)actgtgfs	p.V46fs	RFX3_ENST00000358730.2_Frame_Shift_Ins_p.V46fs|RFX3_ENST00000302303.1_Frame_Shift_Ins_p.V46fs|RFX3_ENST00000381984.2_Frame_Shift_Ins_p.V46fs	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	46					cell maturation (GO:0048469)|cilium assembly (GO:0042384)|cilium-dependent cell motility (GO:0060285)|endocrine pancreas development (GO:0031018)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type B pancreatic cell development (GO:2000078)|regulation of insulin secretion (GO:0050796)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)|type B pancreatic cell maturation (GO:0072560)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		ACCTGCTGCACAGTCTGTACCT	0.416																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AI811824	CCDS6449.1, CCDS6450.1, CCDS75809.1	9p24.2	2008-02-05			ENSG00000080298	ENSG00000080298			9984	protein-coding gene	gene with protein product		601337				8289803	Standard	XM_005251534		Approved		uc003zhr.3	P48380	OTTHUMG00000019456	ENST00000382004.3:c.136dupT	9.37:g.3346747_3346747dupA	ENSP00000371434:p.Val46fs		A8K0H5|D3DRH8|D3DRH9|Q5JTL7|Q5JTL8|Q6NW13|Q8WTU4|Q95HL5|Q95HL6	Frame_Shift_Ins	INS	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.V45fs	ENST00000382004.3	37	c.136_135	CCDS6449.1	9																																																																																			RFX3	-	pfam_RFX1_trans_act	ENSG00000080298		0.416	RFX3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX3	HGNC	protein_coding	OTTHUMT00000051545.1	138	0.00	0	-	NM_002919		3346746	3346747	-1	no_errors	ENST00000382004	ensembl	human	known	69_37n	frame_shift_ins	317	10.45	37	INS	1.000:1.000	A
RGPD2	729857	genome.wustl.edu	37	2	88071774	88071774	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:88071774C>T	ENST00000398146.3	-	22	5372	c.5150G>A	c.(5149-5151)aGt>aAt	p.S1717N	RGPD2_ENST00000327544.6_Missense_Mutation_p.S974N|RGPD2_ENST00000420840.2_Missense_Mutation_p.S1709N			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1717	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CTCTCTCTCACTACCTGGCTT	0.448																																						dbGAP											0													2.0	2.0	2.0					2																	88071774		649	1569	2218	-	-	-	SO:0001583	missense	0				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5150G>A	2.37:g.88071774C>T	ENSP00000381214:p.Ser1717Asn		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1717N	ENST00000398146.3	37	c.5150	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	c	11.34	1.609573	0.28623	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.42900	0.96;0.96;2.11	.	.	.	.	.	.	.	.	T	0.35770	0.0943	L	0.57536	1.79	0.22581	N	0.998969	P	0.52061	0.95	B	0.41917	0.37	T	0.26155	-1.0111	8	0.87932	D	0	-11.8312	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	1717	B4DYH0	.	N	1717;1709;628;974	ENSP00000381214:S1717N;ENSP00000413275:S1709N;ENSP00000332727:S974N	ENSP00000332727:S974N	S	-	2	0	RGPD2	87852889	1.000000	0.71417	0.160000	0.22671	0.161000	0.22273	3.156000	0.50708	0.064000	0.16427	0.064000	0.15345	AGT	RGPD2	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP	ENSG00000185304		0.448	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	28	0.00	0	C	NM_001078170		88071774	88071774	-1	no_errors	ENST00000398146	ensembl	human	known	69_37n	missense	63	35.05	34	SNP	1.000	T
RGPD2	729857	genome.wustl.edu	37	2	88071774	88071774	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr2:88071774C>T	ENST00000398146.3	-	22	5372	c.5150G>A	c.(5149-5151)aGt>aAt	p.S1717N	RGPD2_ENST00000327544.6_Missense_Mutation_p.S974N|RGPD2_ENST00000420840.2_Missense_Mutation_p.S1709N			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1717	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CTCTCTCTCACTACCTGGCTT	0.448																																						dbGAP											0													2.0	2.0	2.0					2																	88071774		649	1569	2218	-	-	-	SO:0001583	missense	0				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5150G>A	2.37:g.88071774C>T	ENSP00000381214:p.Ser1717Asn		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1717N	ENST00000398146.3	37	c.5150	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	c	11.34	1.609573	0.28623	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.42900	0.96;0.96;2.11	.	.	.	.	.	.	.	.	T	0.35770	0.0943	L	0.57536	1.79	0.22581	N	0.998969	P	0.52061	0.95	B	0.41917	0.37	T	0.26155	-1.0111	8	0.87932	D	0	-11.8312	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	1717	B4DYH0	.	N	1717;1709;628;974	ENSP00000381214:S1717N;ENSP00000413275:S1709N;ENSP00000332727:S974N	ENSP00000332727:S974N	S	-	2	0	RGPD2	87852889	1.000000	0.71417	0.160000	0.22671	0.161000	0.22273	3.156000	0.50708	0.064000	0.16427	0.064000	0.15345	AGT	RGPD2	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP	ENSG00000185304		0.448	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	29	0.00	0	C	NM_001078170		88071774	88071774	-1	no_errors	ENST00000398146	ensembl	human	known	69_37n	missense	13	55.17	16	SNP	1.000	T
RGPD2	729857	genome.wustl.edu	37	2	88071774	88071774	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:88071774C>T	ENST00000398146.3	-	22	5372	c.5150G>A	c.(5149-5151)aGt>aAt	p.S1717N	RGPD2_ENST00000327544.6_Missense_Mutation_p.S974N|RGPD2_ENST00000420840.2_Missense_Mutation_p.S1709N			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1717	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						CTCTCTCTCACTACCTGGCTT	0.448																																						dbGAP											0													2.0	2.0	2.0					2																	88071774		649	1569	2218	-	-	-	SO:0001583	missense	0				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5150G>A	2.37:g.88071774C>T	ENSP00000381214:p.Ser1717Asn		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.S1717N	ENST00000398146.3	37	c.5150	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	c	11.34	1.609573	0.28623	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.42900	0.96;0.96;2.11	.	.	.	.	.	.	.	.	T	0.35770	0.0943	L	0.57536	1.79	0.22581	N	0.998969	P	0.52061	0.95	B	0.41917	0.37	T	0.26155	-1.0111	8	0.87932	D	0	-11.8312	5.844	0.18652	0.0:0.9991:0.0:9.0E-4	.	1717	B4DYH0	.	N	1717;1709;628;974	ENSP00000381214:S1717N;ENSP00000413275:S1709N;ENSP00000332727:S974N	ENSP00000332727:S974N	S	-	2	0	RGPD2	87852889	1.000000	0.71417	0.160000	0.22671	0.161000	0.22273	3.156000	0.50708	0.064000	0.16427	0.064000	0.15345	AGT	RGPD2	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP	ENSG00000185304		0.448	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	19	0.00	0	C	NM_001078170		88071774	88071774	-1	no_errors	ENST00000398146	ensembl	human	known	69_37n	missense	63	35.05	34	SNP	1.000	T
RGPD3	653489	genome.wustl.edu	37	2	107040572	107040572	+	Missense_Mutation	SNP	T	T	C	rs3870235		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr2:107040572T>C	ENST00000409886.3	-	20	3938	c.3851A>G	c.(3850-3852)cAc>cGc	p.H1284R	RGPD3_ENST00000304514.7_Missense_Mutation_p.H1284R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1284					protein targeting to Golgi (GO:0000042)					breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CTCATCAAAGTGGAAAAGATT	0.403																																						dbGAP											0													183.0	135.0	149.0					2																	107040572		659	1516	2175	-	-	-	SO:0001583	missense	0				CCDS46379.1	2q12.2	2013-01-10			ENSG00000153165	ENSG00000153165		"""Tetratricopeptide (TTC) repeat domain containing"""	32416	protein-coding gene	gene with protein product		612706				15710750, 15815621	Standard	NM_001144013		Approved	RGP3	uc010ywi.1	A6NKT7	OTTHUMG00000153182	ENST00000409886.3:c.3851A>G	2.37:g.107040572T>C	ENSP00000386588:p.His1284Arg		B8ZZM4	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.H1284R	ENST00000409886.3	37	c.3851	CCDS46379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.001	-2.926314	0.00054	.	.	ENSG00000153165	ENST00000409886;ENST00000304514	T;T	0.34859	1.34;1.34	2.35	2.35	0.29111	.	.	.	.	.	T	0.10723	0.0262	N	0.00926	-1.1	0.45261	P	0.0017359999999999598	B	0.02656	0.0	B	0.01281	0.0	T	0.30937	-0.9961	8	0.10636	T	0.68	-3.2817	7.1563	0.25639	0.0:0.8506:0.0:0.1494	.	1284	A6NKT7	RGPD3_HUMAN	R	1284	ENSP00000386588:H1284R;ENSP00000303659:H1284R	ENSP00000303659:H1284R	H	-	2	0	RGPD3	106407004	1.000000	0.71417	0.999000	0.59377	0.042000	0.13812	4.693000	0.61753	0.328000	0.23435	-1.128000	0.01989	CAC	RGPD3	-	NULL	ENSG00000153165		0.403	RGPD3-002	KNOWN	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD3	HGNC	protein_coding	OTTHUMT00000329975.1	252	0.00	0	T	XM_929931		107040572	107040572	-1	no_errors	ENST00000304514	ensembl	human	known	69_37n	missense	45	22.41	13	SNP	1.000	C
RLF	6018	genome.wustl.edu	37	1	40661414	40661414	+	Missense_Mutation	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:40661414A>C	ENST00000372771.4	+	4	612	c.585A>C	c.(583-585)caA>caC	p.Q195H		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	195					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTCTGTCTCAACAGCCAGTAG	0.358																																						dbGAP											0													70.0	74.0	73.0					1																	40661414		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.585A>C	1.37:g.40661414A>C	ENSP00000361857:p.Gln195His		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q195H	ENST00000372771.4	37	c.585	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	A	18.28	3.589805	0.66105	.	.	ENSG00000117000	ENST00000372771	T	0.15718	2.4	5.1	2.75	0.32379	.	0.110189	0.64402	D	0.000007	T	0.29355	0.0731	L	0.56769	1.78	0.37610	D	0.920883	D	0.61080	0.989	D	0.65140	0.932	T	0.11641	-1.0579	10	0.62326	D	0.03	-10.7635	5.3816	0.16194	0.63:0.0:0.37:0.0	.	195	Q13129	RLF_HUMAN	H	195	ENSP00000361857:Q195H	ENSP00000361857:Q195H	Q	+	3	2	RLF	40434001	0.998000	0.40836	1.000000	0.80357	0.975000	0.68041	0.439000	0.21575	0.797000	0.33971	0.377000	0.23210	CAA	RLF	-	NULL	ENSG00000117000		0.358	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	139	0.71	1	A	NM_012421		40661414	40661414	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	97	50.25	99	SNP	1.000	C
RNF14	9604	genome.wustl.edu	37	5	141363073	141363073	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:141363073G>A	ENST00000394520.2	+	7	1501	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	RNF14_ENST00000394515.3_Missense_Mutation_p.E222K|RNF14_ENST00000394514.2_Missense_Mutation_p.E272K|RNF14_ENST00000540015.1_Missense_Mutation_p.E95K|RNF14_ENST00000394519.1_Missense_Mutation_p.E398K|RNF14_ENST00000347642.3_Missense_Mutation_p.E398K|RNF14_ENST00000356143.1_Missense_Mutation_p.E398K|AC005740.5_ENST00000520882.1_RNA	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	398	Interaction with androgen receptor.				androgen receptor signaling pathway (GO:0030521)|positive regulation of transcription, DNA-templated (GO:0045893)|protein ubiquitination (GO:0016567)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|small conjugating protein ligase activity (GO:0019787)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GGAGTGGCTAGAGAAGAACTC	0.443																																						dbGAP											0													72.0	74.0	73.0					5																	141363073		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF060544	CCDS4270.1, CCDS4271.1	5q23.3-q31.1	2008-02-05			ENSG00000013561	ENSG00000013561		"""RING-type (C3HC4) zinc fingers"""	10058	protein-coding gene	gene with protein product		605675				10085091, 10320776	Standard	NM_183399		Approved	ARA54, HFB30, TRIAD2	uc003lmc.3	Q9UBS8	OTTHUMG00000129660	ENST00000394520.2:c.1192G>A	5.37:g.141363073G>A	ENSP00000378028:p.Glu398Lys		A0AV26|A6NMR2|A8MTW5|B3KN72|B7ZLV2|D3DQE4|O94793|Q6IBV0	Missense_Mutation	SNP	pfam_RWD-domain,pfam_Znf_C6HC,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_C6HC,pfscan_RWD-domain,pfscan_Znf_RING	p.E398K	ENST00000394520.2	37	c.1192	CCDS4270.1	5	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528782	0.44969	.	.	ENSG00000013561	ENST00000356143;ENST00000394520;ENST00000347642;ENST00000540015;ENST00000394514;ENST00000512565;ENST00000394515;ENST00000394519	T;T;T;T;T;T;T;T	0.80909	-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43;-1.43	6.01	3.26	0.37387	Zinc finger, C6HC-type (2);	0.234662	0.49916	D	0.000121	T	0.53981	0.1830	N	0.02357	-0.585	0.51012	D	0.999909	B;B;B	0.20988	0.046;0.05;0.008	B;B;B	0.28139	0.086;0.055;0.027	T	0.41752	-0.9491	10	0.07030	T	0.85	.	9.0347	0.36280	0.1274:0.0:0.7509:0.1217	.	95;222;398	B7Z3J5;B7Z229;Q9UBS8	.;.;RNF14_HUMAN	K	398;398;398;95;272;95;222;398	ENSP00000348462:E398K;ENSP00000378028:E398K;ENSP00000324956:E398K;ENSP00000442490:E95K;ENSP00000378022:E272K;ENSP00000426832:E95K;ENSP00000378023:E222K;ENSP00000378027:E398K	ENSP00000324956:E398K	E	+	1	0	RNF14	141343257	1.000000	0.71417	0.996000	0.52242	0.995000	0.86356	5.372000	0.66156	0.423000	0.26033	0.650000	0.86243	GAG	RNF14	-	pfam_Znf_C6HC,smart_Znf_C6HC	ENSG00000013561		0.443	RNF14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF14	HGNC	protein_coding	OTTHUMT00000251860.2	177	0.00	0	G	NM_004290		141363073	141363073	+1	no_errors	ENST00000347642	ensembl	human	known	69_37n	missense	86	39.01	55	SNP	1.000	A
RNF182	221687	genome.wustl.edu	37	6	13977596	13977596	+	Silent	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:13977596C>G	ENST00000488300.1	+	3	769	c.246C>G	c.(244-246)ccC>ccG	p.P82P	RNF182_ENST00000537663.1_Silent_p.P82P|RNF182_ENST00000537388.1_Silent_p.P82P|RNF182_ENST00000544682.1_Silent_p.P82P	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	82					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTAGCCTGCCCGATGACAACA	0.517																																						dbGAP											0													121.0	115.0	117.0					6																	13977596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.246C>G	6.37:g.13977596C>G			B2RDG2|Q8NBG3	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P82	ENST00000488300.1	37	c.246	CCDS4531.1	6																																																																																			RNF182	-	NULL	ENSG00000180537		0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF182	HGNC	protein_coding	OTTHUMT00000039911.2	71	0.00	0	C	NM_152737		13977596	13977596	+1	no_errors	ENST00000488300	ensembl	human	known	69_37n	silent	155	23.65	48	SNP	0.000	G
RNF182	221687	genome.wustl.edu	37	6	13977596	13977596	+	Silent	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr6:13977596C>G	ENST00000488300.1	+	3	769	c.246C>G	c.(244-246)ccC>ccG	p.P82P	RNF182_ENST00000537663.1_Silent_p.P82P|RNF182_ENST00000537388.1_Silent_p.P82P|RNF182_ENST00000544682.1_Silent_p.P82P	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	82					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTAGCCTGCCCGATGACAACA	0.517																																						dbGAP											0													121.0	115.0	117.0					6																	13977596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.246C>G	6.37:g.13977596C>G			B2RDG2|Q8NBG3	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P82	ENST00000488300.1	37	c.246	CCDS4531.1	6																																																																																			RNF182	-	NULL	ENSG00000180537		0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF182	HGNC	protein_coding	OTTHUMT00000039911.2	34	0.00	0	C	NM_152737		13977596	13977596	+1	no_errors	ENST00000488300	ensembl	human	known	69_37n	silent	33	23.26	10	SNP	0.000	G
RNF182	221687	genome.wustl.edu	37	6	13977596	13977596	+	Silent	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr6:13977596C>G	ENST00000488300.1	+	3	769	c.246C>G	c.(244-246)ccC>ccG	p.P82P	RNF182_ENST00000537663.1_Silent_p.P82P|RNF182_ENST00000537388.1_Silent_p.P82P|RNF182_ENST00000544682.1_Silent_p.P82P	NM_152737.3	NP_689950.1	Q8N6D2	RN182_HUMAN	ring finger protein 182	82					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(1)|large_intestine(7)|liver(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(50;0.00405)|Ovarian(93;0.0964)	all_hematologic(90;0.135)	Epithelial(50;0.195)			GTAGCCTGCCCGATGACAACA	0.517																																						dbGAP											0													121.0	115.0	117.0					6																	13977596		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK090576	CCDS4531.1	6p23	2013-01-09			ENSG00000180537	ENSG00000180537		"""RING-type (C3HC4) zinc fingers"""	28522	protein-coding gene	gene with protein product						12477932	Standard	NM_152737		Approved	MGC33993	uc003nbg.3	Q8N6D2	OTTHUMG00000014280	ENST00000488300.1:c.246C>G	6.37:g.13977596C>G			B2RDG2|Q8NBG3	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P82	ENST00000488300.1	37	c.246	CCDS4531.1	6																																																																																			RNF182	-	NULL	ENSG00000180537		0.517	RNF182-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF182	HGNC	protein_coding	OTTHUMT00000039911.2	112	0.00	0	C	NM_152737		13977596	13977596	+1	no_errors	ENST00000488300	ensembl	human	known	69_37n	silent	155	23.65	48	SNP	0.000	G
ROR2	4920	genome.wustl.edu	37	9	94485838	94485838	+	3'UTR	SNP	G	G	A	rs531108921	byFrequency	TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr9:94485838G>A	ENST00000375708.3	-	0	3136				ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2						cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCCACTGGCCGGCGGGCTCTT	0.627													G|||	2	0.000399361	0.0	0.0	5008	,	,		17921	0.002		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.*106C>T	9.37:g.94485838G>A			Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	RNA	SNP	-	NULL	ENST00000375708.3	37	NULL	CCDS6691.1	9																																																																																			ROR2	-	-	ENSG00000169071		0.627	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	69	0.00	0	G			94485838	94485838	-1	no_errors	ENST00000550066	ensembl	human	known	69_37n	rna	36	37.93	22	SNP	0.000	A
RPH3A	22895	genome.wustl.edu	37	12	113321203	113321203	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr12:113321203C>A	ENST00000389385.4	+	16	1929	c.1432C>A	c.(1432-1434)Ctc>Atc	p.L478I	RPH3A_ENST00000548866.1_Missense_Mutation_p.L429I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.L478I|RPH3A_ENST00000543106.2_Missense_Mutation_p.L478I|RPH3A_ENST00000447659.2_Missense_Mutation_p.L429I|RPH3A_ENST00000551052.1_Missense_Mutation_p.L474I|RPH3A_ENST00000415485.3_Missense_Mutation_p.L478I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	478	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAGGAAGACCCTCAGGTACCT	0.577																																						dbGAP											0													50.0	45.0	47.0					12																	113321203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1432C>A	12.37:g.113321203C>A	ENSP00000374036:p.Leu478Ile		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.L478I	ENST00000389385.4	37	c.1432	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998771	0.74818	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.49305	D	0.000157	T	0.44993	0.1320	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.42699	-0.9436	10	0.87932	D	0	.	11.1685	0.48558	0.0:0.9143:0.0:0.0857	.	429;478;478;474	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	I	478;478;429;474;478;429;478;130	ENSP00000440384:L478I;ENSP00000374036:L478I;ENSP00000413254:L429I;ENSP00000448297:L474I;ENSP00000405357:L478I;ENSP00000450347:L429I;ENSP00000408889:L478I	ENSP00000374036:L478I	L	+	1	0	RPH3A	111805586	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	5.775000	0.68915	2.443000	0.82685	0.551000	0.68910	CTC	RPH3A	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000089169		0.577	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	61	0.00	0	C	NM_014954		113321203	113321203	+1	no_errors	ENST00000389385	ensembl	human	known	69_37n	missense	20	77.53	69	SNP	1.000	A
RPH3A	22895	genome.wustl.edu	37	12	113321203	113321203	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr12:113321203C>A	ENST00000389385.4	+	16	1929	c.1432C>A	c.(1432-1434)Ctc>Atc	p.L478I	RPH3A_ENST00000548866.1_Missense_Mutation_p.L429I|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000420983.2_Missense_Mutation_p.L478I|RPH3A_ENST00000543106.2_Missense_Mutation_p.L478I|RPH3A_ENST00000447659.2_Missense_Mutation_p.L429I|RPH3A_ENST00000551052.1_Missense_Mutation_p.L474I|RPH3A_ENST00000415485.3_Missense_Mutation_p.L478I	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	478	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		AAGGAAGACCCTCAGGTACCT	0.577																																						dbGAP											0													50.0	45.0	47.0					12																	113321203		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.1432C>A	12.37:g.113321203C>A	ENSP00000374036:p.Leu478Ile		B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel	p.L478I	ENST00000389385.4	37	c.1432	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	20.5	3.998771	0.74818	.	.	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983;ENST00000549913	T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.25	5.25	0.73442	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.49305	D	0.000157	T	0.44993	0.1320	M	0.74258	2.255	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.42699	-0.9436	10	0.87932	D	0	.	11.1685	0.48558	0.0:0.9143:0.0:0.0857	.	429;478;478;474	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	I	478;478;429;474;478;429;478;130	ENSP00000440384:L478I;ENSP00000374036:L478I;ENSP00000413254:L429I;ENSP00000448297:L474I;ENSP00000405357:L478I;ENSP00000450347:L429I;ENSP00000408889:L478I	ENSP00000374036:L478I	L	+	1	0	RPH3A	111805586	1.000000	0.71417	0.998000	0.56505	0.621000	0.37620	5.775000	0.68915	2.443000	0.82685	0.551000	0.68910	CTC	RPH3A	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	ENSG00000089169		0.577	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	34	0.00	0	C	NM_014954		113321203	113321203	+1	no_errors	ENST00000389385	ensembl	human	known	69_37n	missense	1	92.31	12	SNP	1.000	A
RPLP0	6175	genome.wustl.edu	37	12	120634697	120634697	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:120634697G>C	ENST00000551150.1	-	7	1148	c.833C>G	c.(832-834)gCt>gGt	p.A278G	RPLP0_ENST00000550296.1_5'Flank|RPLP0_ENST00000552292.1_Missense_Mutation_p.A68G|RPLP0_ENST00000228306.4_Missense_Mutation_p.A278G|RPLP0_ENST00000546989.1_Missense_Mutation_p.A242G|RPLP0_ENST00000313104.5_Missense_Mutation_p.A216G|RPLP0_ENST00000392514.4_Missense_Mutation_p.A278G|GCN1L1_ENST00000300648.6_5'Flank			P05388	RLA0_HUMAN	ribosomal protein, large, P0	278					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					cacaggggcagcagcCACAAA	0.582																																						dbGAP											0													31.0	32.0	32.0					12																	120634697		2038	4025	6063	-	-	-	SO:0001583	missense	0			AB007187	CCDS9193.1	12q24.2	2011-07-29			ENSG00000089157	ENSG00000089157		"""L ribosomal proteins"""	10371	protein-coding gene	gene with protein product	"""acidic ribosomal phosphoprotein P0"""	180510				9582194	Standard	NM_053275		Approved	PRLP0, P0, L10E, RPP0, LP0	uc001txq.3	P05388	OTTHUMG00000169317	ENST00000551150.1:c.833C>G	12.37:g.120634697G>C	ENSP00000449328:p.Ala278Gly		Q3B7A4|Q9BVK4	Missense_Mutation	SNP	pfam_Ribosomal_L10/acidic_P0,pfam_Ribosomal_60S	p.A278G	ENST00000551150.1	37	c.833	CCDS9193.1	12	.	.	.	.	.	.	.	.	.	.	G	19.54	3.846175	0.71603	.	.	ENSG00000089157	ENST00000392514;ENST00000551150;ENST00000552292;ENST00000313104;ENST00000546989;ENST00000228306;ENST00000546990	.	.	.	5.67	5.67	0.87782	.	0.193120	0.32273	U	0.006335	T	0.68943	0.3056	M	0.75615	2.305	0.80722	D	1	P;P	0.46064	0.872;0.697	B;B	0.43754	0.43;0.43	T	0.74147	-0.3759	9	0.72032	D	0.01	.	19.3832	0.94545	0.0:0.0:1.0:0.0	.	216;278	Q3B7A4;P05388	.;RLA0_HUMAN	G	278;278;68;216;242;278;229	.	ENSP00000339027:A278G	A	-	2	0	RPLP0	119119080	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.507000	0.97996	2.687000	0.91594	0.655000	0.94253	GCT	RPLP0	-	pfam_Ribosomal_60S	ENSG00000089157		0.582	RPLP0-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPLP0	HGNC	protein_coding	OTTHUMT00000403448.3	39	0.00	0	G	NM_053275		120634697	120634697	-1	no_errors	ENST00000228306	ensembl	human	known	69_37n	missense	12	78.95	45	SNP	1.000	C
SCML1	6322	genome.wustl.edu	37	X	17768050	17768050	+	Missense_Mutation	SNP	G	G	T	rs199581215		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:17768050G>T	ENST00000380041.3	+	6	668	c.340G>T	c.(340-342)Gtt>Ttt	p.V114F	SCML1_ENST00000380045.3_5'UTR|SCML1_ENST00000398080.1_5'UTR|SCML1_ENST00000380043.3_Missense_Mutation_p.V87F	NM_001037540.1	NP_001032629.1	Q9UN30	SCML1_HUMAN	sex comb on midleg-like 1 (Drosophila)	114					anatomical structure morphogenesis (GO:0009653)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)	10	Hepatocellular(33;0.183)					TTACCGGCTTGTTAAAAAGCT	0.363																																						dbGAP											0													66.0	71.0	69.0					X																	17768050		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14182.2, CCDS35210.1, CCDS35211.1	Xp22	2013-01-10	2001-11-28		ENSG00000047634	ENSG00000047634		"""Sterile alpha motif (SAM) domain containing"""	10580	protein-coding gene	gene with protein product		300227	"""sex comb on midleg (Drosophila)-like 1"""			9570953	Standard	XM_005274578		Approved		uc004cyc.3	Q9UN30	OTTHUMG00000021206	ENST00000380041.3:c.340G>T	X.37:g.17768050G>T	ENSP00000369380:p.Val114Phe		B0FZN6|B2RA08|Q5H968|Q5H969	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.V114F	ENST00000380041.3	37	c.340	CCDS35210.1	X	.	.	.	.	.	.	.	.	.	.	G	6.480	0.456817	0.12283	.	.	ENSG00000047634	ENST00000380041;ENST00000380043;ENST00000419185	.	.	.	3.68	-6.64	0.01801	.	1.717000	0.03555	N	0.226110	T	0.13157	0.0319	N	0.08118	0	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.16012	-1.0417	9	0.09843	T	0.71	-0.1467	1.9144	0.03294	0.2783:0.1002:0.4121:0.2094	.	87;114	Q9UN30-2;Q9UN30	.;SCML1_HUMAN	F	114;87;87	.	ENSP00000369380:V114F	V	+	1	0	SCML1	17677971	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.735000	0.04888	-1.572000	0.01661	-1.171000	0.01739	GTT	SCML1	-	NULL	ENSG00000047634		0.363	SCML1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCML1	HGNC	protein_coding	OTTHUMT00000060495.5	55	0.00	0	G	NM_006746		17768050	17768050	+1	no_errors	ENST00000380041	ensembl	human	known	69_37n	missense	17	62.22	28	SNP	0.000	T
SLC10A1	6554	genome.wustl.edu	37	14	70243092	70243092	+	Missense_Mutation	SNP	C	C	G	rs149272163	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr14:70243092C>G	ENST00000216540.4	-	5	1090	c.957G>C	c.(955-957)atG>atC	p.M319I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	319					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CTGTGTAGATCATTTTTGTTT	0.428																																						dbGAP											0													98.0	91.0	93.0					14																	70243092		2203	4300	6503	-	-	-	SO:0001583	missense	0			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.957G>C	14.37:g.70243092C>G	ENSP00000216540:p.Met319Ile		B9EGB6|Q2TU29	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.M319I	ENST00000216540.4	37	c.957	CCDS9797.1	14	.	.	.	.	.	.	.	.	.	.	C	0.297	-0.976049	0.02215	.	.	ENSG00000100652	ENST00000216540	T	0.07444	3.19	5.01	0.965	0.19661	.	0.735663	0.13408	N	0.390115	T	0.03695	0.0105	N	0.13043	0.29	0.23754	N	0.996934	B	0.02656	0.0	B	0.01281	0.0	T	0.47209	-0.9135	10	0.10377	T	0.69	-7.053	4.1549	0.10256	0.3316:0.4911:0.0:0.1773	.	319	Q14973	NTCP_HUMAN	I	319	ENSP00000216540:M319I	ENSP00000216540:M319I	M	-	3	0	SLC10A1	69312845	0.031000	0.19500	0.994000	0.49952	0.426000	0.31534	-1.305000	0.02738	0.063000	0.16370	-0.152000	0.13540	ATG	SLC10A1	-	NULL	ENSG00000100652		0.428	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A1	HGNC	protein_coding	OTTHUMT00000412464.1	204	0.00	0	C			70243092	70243092	-1	no_errors	ENST00000216540	ensembl	human	known	69_37n	missense	168	43.43	129	SNP	0.998	G
SLC10A1	6554	genome.wustl.edu	37	14	70243092	70243092	+	Missense_Mutation	SNP	C	C	G	rs149272163	byFrequency	TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr14:70243092C>G	ENST00000216540.4	-	5	1090	c.957G>C	c.(955-957)atG>atC	p.M319I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	319					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CTGTGTAGATCATTTTTGTTT	0.428																																						dbGAP											0													98.0	91.0	93.0					14																	70243092		2203	4300	6503	-	-	-	SO:0001583	missense	0			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.957G>C	14.37:g.70243092C>G	ENSP00000216540:p.Met319Ile		B9EGB6|Q2TU29	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.M319I	ENST00000216540.4	37	c.957	CCDS9797.1	14	.	.	.	.	.	.	.	.	.	.	C	0.297	-0.976049	0.02215	.	.	ENSG00000100652	ENST00000216540	T	0.07444	3.19	5.01	0.965	0.19661	.	0.735663	0.13408	N	0.390115	T	0.03695	0.0105	N	0.13043	0.29	0.23754	N	0.996934	B	0.02656	0.0	B	0.01281	0.0	T	0.47209	-0.9135	10	0.10377	T	0.69	-7.053	4.1549	0.10256	0.3316:0.4911:0.0:0.1773	.	319	Q14973	NTCP_HUMAN	I	319	ENSP00000216540:M319I	ENSP00000216540:M319I	M	-	3	0	SLC10A1	69312845	0.031000	0.19500	0.994000	0.49952	0.426000	0.31534	-1.305000	0.02738	0.063000	0.16370	-0.152000	0.13540	ATG	SLC10A1	-	NULL	ENSG00000100652		0.428	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A1	HGNC	protein_coding	OTTHUMT00000412464.1	49	0.00	0	C			70243092	70243092	-1	no_errors	ENST00000216540	ensembl	human	known	69_37n	missense	21	34.38	11	SNP	0.998	G
SLC10A1	6554	genome.wustl.edu	37	14	70243092	70243092	+	Missense_Mutation	SNP	C	C	G	rs149272163	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr14:70243092C>G	ENST00000216540.4	-	5	1090	c.957G>C	c.(955-957)atG>atC	p.M319I		NM_003049.3	NP_003040.1	Q14973	NTCP_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 1	319					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bile acid:sodium symporter activity (GO:0008508)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)	14				all cancers(60;0.00228)|BRCA - Breast invasive adenocarcinoma(234;0.0137)|OV - Ovarian serous cystadenocarcinoma(108;0.0226)	Bumetanide(DB00887)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Ethinyl Estradiol(DB00977)|Indomethacin(DB00328)|Liothyronine(DB00279)|Liotrix(DB01583)|Pitavastatin(DB08860)|Probenecid(DB01032)|Progesterone(DB00396)|Testosterone(DB00624)|Ursodeoxycholic acid(DB01586)	CTGTGTAGATCATTTTTGTTT	0.428																																						dbGAP											0													98.0	91.0	93.0					14																	70243092		2203	4300	6503	-	-	-	SO:0001583	missense	0			L21893	CCDS9797.1	14q24.2	2013-07-18	2013-07-18		ENSG00000100652	ENSG00000100652		"""Solute carriers"""	10905	protein-coding gene	gene with protein product		182396				8132774	Standard	NM_003049		Approved	NTCP	uc001xlr.2	Q14973	OTTHUMG00000171236	ENST00000216540.4:c.957G>C	14.37:g.70243092C>G	ENSP00000216540:p.Met319Ile		B9EGB6|Q2TU29	Missense_Mutation	SNP	pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt	p.M319I	ENST00000216540.4	37	c.957	CCDS9797.1	14	.	.	.	.	.	.	.	.	.	.	C	0.297	-0.976049	0.02215	.	.	ENSG00000100652	ENST00000216540	T	0.07444	3.19	5.01	0.965	0.19661	.	0.735663	0.13408	N	0.390115	T	0.03695	0.0105	N	0.13043	0.29	0.23754	N	0.996934	B	0.02656	0.0	B	0.01281	0.0	T	0.47209	-0.9135	10	0.10377	T	0.69	-7.053	4.1549	0.10256	0.3316:0.4911:0.0:0.1773	.	319	Q14973	NTCP_HUMAN	I	319	ENSP00000216540:M319I	ENSP00000216540:M319I	M	-	3	0	SLC10A1	69312845	0.031000	0.19500	0.994000	0.49952	0.426000	0.31534	-1.305000	0.02738	0.063000	0.16370	-0.152000	0.13540	ATG	SLC10A1	-	NULL	ENSG00000100652		0.428	SLC10A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC10A1	HGNC	protein_coding	OTTHUMT00000412464.1	244	0.41	1	C			70243092	70243092	-1	no_errors	ENST00000216540	ensembl	human	known	69_37n	missense	168	43.43	129	SNP	0.998	G
SLC25A3P1	163742	genome.wustl.edu	37	1	53904142	53904142	+	RNA	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:53904142G>A	ENST00000566100.1	-	0	1096									solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 pseudogene 1																		CTGCAGGGCCGTGAGGGTGCC	0.612																																						dbGAP											0																																										-	-	-			0					1p32.3	2013-05-22	2012-03-29		ENSG00000236253	ENSG00000236253		"""Solute carriers"""	26869	pseudogene	pseudogene			"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 pseudogene 1"""				Standard	NR_002314		Approved	FLJ40434	uc009vzj.3		OTTHUMG00000008078		1.37:g.53904142G>A				RNA	SNP	-	NULL	ENST00000566100.1	37	NULL		1																																																																																			SLC25A3P1	-	-	ENSG00000236253		0.612	SLC25A3P1-002	KNOWN	basic	processed_transcript	SLC25A3P1	HGNC	pseudogene	OTTHUMT00000422839.1	40	0.00	0	G	NM_178501		53904142	53904142	-1	no_errors	ENST00000566100	ensembl	human	known	69_37n	rna	8	74.19	23	SNP	0.903	A
SLC6A14	11254	genome.wustl.edu	37	X	115582656	115582656	+	Missense_Mutation	SNP	G	G	T	rs200351649		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:115582656G>T	ENST00000371900.4	+	8	1068	c.980G>T	c.(979-981)tGg>tTg	p.W327L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	327					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCAGTGGCTTGGGGTGGCTTA	0.338																																						dbGAP											0													121.0	108.0	112.0					X																	115582656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.980G>T	X.37:g.115582656G>T	ENSP00000360967:p.Trp327Leu		Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.W327L	ENST00000371900.4	37	c.980	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009462	0.75046	.	.	ENSG00000087916	ENST00000371900	T	0.71341	-0.56	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	N	0.25890	0.77	0.58432	D	0.99999	D	0.69078	0.997	D	0.70487	0.969	T	0.67538	-0.5645	10	0.13470	T	0.59	.	15.2782	0.73760	0.0:0.0:1.0:0.0	.	327	Q9UN76	S6A14_HUMAN	L	327	ENSP00000360967:W327L	ENSP00000360967:W327L	W	+	2	0	SLC6A14	115496684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.249000	0.65427	2.198000	0.70561	0.544000	0.68410	TGG	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000087916		0.338	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	307	0.00	0	G			115582656	115582656	+1	no_errors	ENST00000371900	ensembl	human	known	69_37n	missense	168	19.23	40	SNP	1.000	T
SLC6A14	11254	genome.wustl.edu	37	X	115582656	115582656	+	Missense_Mutation	SNP	G	G	T	rs200351649		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:115582656G>T	ENST00000371900.4	+	8	1068	c.980G>T	c.(979-981)tGg>tTg	p.W327L		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	327					amino acid transmembrane transport (GO:0003333)|amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	amino acid transmembrane transporter activity (GO:0015171)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	TCAGTGGCTTGGGGTGGCTTA	0.338																																						dbGAP											0													121.0	108.0	112.0					X																	115582656		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF151978	CCDS14570.1	Xq23	2013-05-22			ENSG00000087916	ENSG00000268104		"""Solute carriers"""	11047	protein-coding gene	gene with protein product		300444	"""solute carrier family 6 (neurotransmitter transporter), member 14"""			10446133	Standard	NM_007231		Approved		uc004eqi.3	Q9UN76	OTTHUMG00000022245	ENST00000371900.4:c.980G>T	X.37:g.115582656G>T	ENSP00000360967:p.Trp327Leu		Q5H942	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport	p.W327L	ENST00000371900.4	37	c.980	CCDS14570.1	X	.	.	.	.	.	.	.	.	.	.	G	20.6	4.009462	0.75046	.	.	ENSG00000087916	ENST00000371900	T	0.71341	-0.56	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	T	0.72692	0.3492	N	0.25890	0.77	0.58432	D	0.99999	D	0.69078	0.997	D	0.70487	0.969	T	0.67538	-0.5645	10	0.13470	T	0.59	.	15.2782	0.73760	0.0:0.0:1.0:0.0	.	327	Q9UN76	S6A14_HUMAN	L	327	ENSP00000360967:W327L	ENSP00000360967:W327L	W	+	2	0	SLC6A14	115496684	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.249000	0.65427	2.198000	0.70561	0.544000	0.68410	TGG	SLC6A14	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport	ENSG00000087916		0.338	SLC6A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A14	HGNC	protein_coding	OTTHUMT00000057986.1	296	0.00	0	G			115582656	115582656	+1	no_errors	ENST00000371900	ensembl	human	known	69_37n	missense	168	19.23	40	SNP	1.000	T
SOHLH2	54937	genome.wustl.edu	37	13	36748877	36748877	+	Silent	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:36748877A>G	ENST00000379881.3	-	7	859	c.771T>C	c.(769-771)tcT>tcC	p.S257S	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.S334S|SOHLH2_ENST00000554962.1_Silent_p.S334S	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	257					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TAACGGCTGGAGAGATTTTCT	0.368																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.771T>C	13.37:g.36748877A>G			B4DX90|Q5EGC3|Q8TC74|Q96QX4	Silent	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S334	ENST00000379881.3	37	c.1002	CCDS9355.1	13																																																																																			SOHLH2	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd	ENSG00000120669		0.368	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOHLH2	HGNC	protein_coding	OTTHUMT00000044477.2	105	0.00	0	A	NM_017826		36748877	36748877	-1	no_errors	ENST00000554962	ensembl	human	known	69_37n	silent	63	46.15	54	SNP	0.996	G
SPTAN1	6709	genome.wustl.edu	37	9	131346108	131346108	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr9:131346108C>T	ENST00000372731.4	+	16	2163	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R685C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R685C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	685					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAATTTAATCGCAATGTTGA	0.403																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													127.0	118.0	121.0					9																	131346108		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2053C>T	9.37:g.131346108C>T	ENSP00000361816:p.Arg685Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.R685C	ENST00000372731.4	37	c.2053	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422518	0.83559	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55234	0.53;0.53;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	H	0.94385	3.53	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;P;D;D	0.85130	0.993;0.997;0.864;0.987;0.953	D	0.86130	0.1574	10	0.87932	D	0	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	685;685;685;685;685	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	685	ENSP00000350882:R685C;ENSP00000361816:R685C;ENSP00000361824:R685C	ENSP00000350882:R685C	R	+	1	0	SPTAN1	130385929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.849000	0.69465	2.692000	0.91855	0.557000	0.71058	CGC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.403	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	151	0.00	0	C	NM_003127		131346108	131346108	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	107	41.21	75	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131346108	131346108	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr9:131346108C>T	ENST00000372731.4	+	16	2163	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R685C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R685C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	685					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAATTTAATCGCAATGTTGA	0.403																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													127.0	118.0	121.0					9																	131346108		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2053C>T	9.37:g.131346108C>T	ENSP00000361816:p.Arg685Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.R685C	ENST00000372731.4	37	c.2053	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422518	0.83559	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55234	0.53;0.53;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	H	0.94385	3.53	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;P;D;D	0.85130	0.993;0.997;0.864;0.987;0.953	D	0.86130	0.1574	10	0.87932	D	0	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	685;685;685;685;685	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	685	ENSP00000350882:R685C;ENSP00000361816:R685C;ENSP00000361824:R685C	ENSP00000350882:R685C	R	+	1	0	SPTAN1	130385929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.849000	0.69465	2.692000	0.91855	0.557000	0.71058	CGC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.403	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	40	0.00	0	C	NM_003127		131346108	131346108	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	9	50.00	9	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131346108	131346108	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr9:131346108C>T	ENST00000372731.4	+	16	2163	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R685C|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R685C	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	685					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GCAATTTAATCGCAATGTTGA	0.403																																					NSCLC(120;833 1744 2558 35612 37579)	dbGAP											0													127.0	118.0	121.0					9																	131346108		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2053C>T	9.37:g.131346108C>T	ENSP00000361816:p.Arg685Cys		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,prints_Spectrin_alpha_SH3,prints_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain	p.R685C	ENST00000372731.4	37	c.2053	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	C	23.5	4.422518	0.83559	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	T;T;T	0.55234	0.53;0.53;0.53	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.81341	0.4802	H	0.94385	3.53	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;0.999	D;D;P;D;D	0.85130	0.993;0.997;0.864;0.987;0.953	D	0.86130	0.1574	10	0.87932	D	0	.	18.8186	0.92088	0.0:1.0:0.0:0.0	.	685;685;685;685;685	A6NG51;B4DTV8;Q13813-3;Q13813-2;Q13813	.;.;.;.;SPTA2_HUMAN	C	685	ENSP00000350882:R685C;ENSP00000361816:R685C;ENSP00000361824:R685C	ENSP00000350882:R685C	R	+	1	0	SPTAN1	130385929	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.849000	0.69465	2.692000	0.91855	0.557000	0.71058	CGC	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000197694		0.403	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	161	0.00	0	C	NM_003127		131346108	131346108	+1	no_errors	ENST00000358161	ensembl	human	known	69_37n	missense	107	41.21	75	SNP	1.000	T
ST3GAL4	6484	genome.wustl.edu	37	11	126279272	126279272	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:126279272G>C	ENST00000526727.1	+	8	1111	c.737G>C	c.(736-738)aGc>aCc	p.S246T	ST3GAL4_ENST00000532243.1_Missense_Mutation_p.S245T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.S242T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.S235T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.S252T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.S246T|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.S246T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.S241T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.S246T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.S242T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	246					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)|monosialoganglioside sialyltransferase activity (GO:0047288)			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		AAACTGCTGAGCCTGCCAATG	0.522																																						dbGAP											0													96.0	98.0	97.0					11																	126279272		2201	4297	6498	-	-	-	SO:0001583	missense	0			X74570	CCDS8474.1, CCDS58193.1, CCDS58194.1	11q23-q24	2013-03-01	2003-01-14	2005-02-07	ENSG00000110080	ENSG00000110080	2.4.99.4	"""Sialyltransferases"""	10864	protein-coding gene	gene with protein product	"""ST3Gal IV"""	104240	"""sialyltransferase 4C (beta-galactosidase alpha-2,3-sialytransferase)"""	CGS23, SIAT4, NANTA3, SIAT4C		8557707, 8288606	Standard	NM_006278		Approved	STZ, SAT3, FLJ11867	uc001qds.3	Q11206	OTTHUMG00000165830	ENST00000526727.1:c.737G>C	11.37:g.126279272G>C	ENSP00000436047:p.Ser246Thr		A8K6B2|O60497|Q8N6A6|Q8NFG7|Q96QQ9	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S252T	ENST00000526727.1	37	c.755	CCDS58193.1	11	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473089	0.43942	.	.	ENSG00000110080	ENST00000227495;ENST00000444328;ENST00000356132;ENST00000530591;ENST00000534083;ENST00000392669;ENST00000526727;ENST00000449406;ENST00000532243;ENST00000534457;ENST00000524860	T;T;T;T;T;T;T;T;T;T;T	0.28666	1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6;1.6	5.72	4.79	0.61399	.	0.334443	0.41605	D	0.000845	T	0.31451	0.0797	L	0.39085	1.19	0.30159	N	0.802396	P;B;B	0.45986	0.87;0.004;0.013	P;B;B	0.51833	0.681;0.02;0.02	T	0.13629	-1.0502	10	0.23302	T	0.38	-29.5545	8.286	0.31928	0.1846:0.0:0.8154:0.0	.	195;242;246	Q9HAA9;Q6IBE6;Q11206	.;.;SIA4C_HUMAN	T	242;246;252;242;246;246;246;235;245;241;82	ENSP00000227495:S242T;ENSP00000394354:S246T;ENSP00000348451:S252T;ENSP00000433989:S242T;ENSP00000433318:S246T;ENSP00000376437:S246T;ENSP00000436047:S246T;ENSP00000399444:S235T;ENSP00000434349:S245T;ENSP00000434668:S241T;ENSP00000431170:S82T	ENSP00000227495:S242T	S	+	2	0	ST3GAL4	125784482	0.963000	0.33076	1.000000	0.80357	0.991000	0.79684	0.684000	0.25364	1.348000	0.45733	0.655000	0.94253	AGC	ST3GAL4	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans	ENSG00000110080		0.522	ST3GAL4-003	PUTATIVE	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ST3GAL4	HGNC	protein_coding	OTTHUMT00000386470.1	106	0.00	0	G	NM_006278		126279272	126279272	+1	no_errors	ENST00000356132	ensembl	human	known	69_37n	missense	53	57.60	72	SNP	1.000	C
TAB3	257397	genome.wustl.edu	37	X	30872292	30872292	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:30872292C>T	ENST00000378933.1	-	3	1667	c.1490G>A	c.(1489-1491)gGa>gAa	p.G497E	TAB3_ENST00000288422.2_Missense_Mutation_p.G497E|TAB3_ENST00000378932.2_Missense_Mutation_p.G497E|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.G497E	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	497					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TTTATGGCTTCCCTTTTCTCC	0.398																																					Pancreas(164;1598 1985 29022 43301 49529)	dbGAP											0													51.0	49.0	50.0					X																	30872292		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1490G>A	X.37:g.30872292C>T	ENSP00000368215:p.Gly497Glu		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.G497E	ENST00000378933.1	37	c.1490	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	13.77	2.334803	0.41297	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.71698	-0.59;-0.59;-0.59;-0.59	5.14	5.14	0.70334	.	0.253887	0.39687	N	0.001292	T	0.70780	0.3263	N	0.14661	0.345	0.48901	D	0.999729	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.65656	-0.6115	10	0.09338	T	0.73	-3.8377	17.9886	0.89162	0.0:1.0:0.0:0.0	.	497;497	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	E	497	ENSP00000368215:G497E;ENSP00000368212:G497E;ENSP00000288422:G497E;ENSP00000368214:G497E	ENSP00000288422:G497E	G	-	2	0	TAB3	30782213	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.441000	0.52893	2.269000	0.75478	0.523000	0.50628	GGA	TAB3	-	NULL	ENSG00000157625		0.398	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	85	0.00	0	C	NM_152787		30872292	30872292	-1	no_errors	ENST00000288422	ensembl	human	known	69_37n	missense	67	17.07	14	SNP	1.000	T
TAB3	257397	genome.wustl.edu	37	X	30872751	30872751	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:30872751C>T	ENST00000378933.1	-	3	1208	c.1031G>A	c.(1030-1032)gGa>gAa	p.G344E	TAB3_ENST00000288422.2_Missense_Mutation_p.G344E|TAB3_ENST00000378932.2_Missense_Mutation_p.G344E|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378928.1_5'Flank|TAB3_ENST00000378930.3_Missense_Mutation_p.G344E	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	344	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGAATGGCTTCCCTGTTTCTG	0.453																																					Pancreas(164;1598 1985 29022 43301 49529)	dbGAP											0													130.0	119.0	123.0					X																	30872751		2202	4300	6502	-	-	-	SO:0001583	missense	0			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1031G>A	X.37:g.30872751C>T	ENSP00000368215:p.Gly344Glu		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.G344E	ENST00000378933.1	37	c.1031	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	C	16.34	3.096596	0.56075	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78364	-1.07;-1.07;-1.07;-1.17	5.06	5.06	0.68205	.	0.205851	0.48286	D	0.000192	T	0.75125	0.3807	N	0.24115	0.695	0.37805	D	0.927831	D;D	0.57257	0.979;0.964	P;P	0.51193	0.662;0.461	T	0.80388	-0.1403	10	0.52906	T	0.07	-3.8377	17.8235	0.88657	0.0:1.0:0.0:0.0	.	344;344	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	E	344	ENSP00000368215:G344E;ENSP00000368212:G344E;ENSP00000288422:G344E;ENSP00000368214:G344E	ENSP00000288422:G344E	G	-	2	0	TAB3	30782672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.804000	0.62554	2.229000	0.72834	0.538000	0.68166	GGA	TAB3	-	NULL	ENSG00000157625		0.453	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	364	0.27	1	C	NM_152787		30872751	30872751	-1	no_errors	ENST00000288422	ensembl	human	known	69_37n	missense	204	13.56	32	SNP	1.000	T
TBC1D25	4943	genome.wustl.edu	37	X	48419032	48419032	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:48419032T>G	ENST00000376771.4	+	6	2077	c.1736T>G	c.(1735-1737)gTa>gGa	p.V579G	TBC1D25_ENST00000537536.1_Missense_Mutation_p.V325G|snoU13_ENST00000459609.1_RNA	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	579					autophagy (GO:0006914)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of autophagic vacuole maturation (GO:1901096)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)	Rab GTPase activator activity (GO:0005097)			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						GATATGGCTGTAGGATCCCCC	0.602																																						dbGAP											0													90.0	81.0	84.0					X																	48419032		2203	4300	6503	-	-	-	SO:0001583	missense	0			L08240	CCDS35242.1	Xp11.23	2014-01-28	2007-01-12	2007-01-12	ENSG00000068354	ENSG00000068354			8092	protein-coding gene	gene with protein product		311240	"""ornithine aminotransferase-like 1"""	OATL1		21383079	Standard	NM_002536		Approved		uc004dka.1	Q3MII6	OTTHUMG00000024123	ENST00000376771.4:c.1736T>G	X.37:g.48419032T>G	ENSP00000365962:p.Val579Gly		Q08AN9|Q3MII4|Q8TAR9	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.V579G	ENST00000376771.4	37	c.1736	CCDS35242.1	X	.	.	.	.	.	.	.	.	.	.	T	0.773	-0.765171	0.02996	.	.	ENSG00000068354	ENST00000376771;ENST00000537536	T;T	0.14516	2.5;2.52	4.2	2.2	0.27929	Rab-GAP/TBC domain (1);	0.745694	0.12470	N	0.466128	T	0.05731	0.0150	N	0.11427	0.14	0.09310	N	0.999995	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.41161	-0.9524	10	0.23302	T	0.38	0.1149	2.076	0.03624	0.2527:0.3752:0.0:0.3721	.	583;521;579	B4DF03;B4DGU3;Q3MII6	.;.;TBC25_HUMAN	G	579;325	ENSP00000365962:V579G;ENSP00000444091:V325G	ENSP00000365962:V579G	V	+	2	0	TBC1D25	48303976	0.000000	0.05858	0.045000	0.18777	0.954000	0.61252	0.150000	0.16263	0.275000	0.22094	0.356000	0.21956	GTA	TBC1D25	-	superfamily_Rab-GTPase-TBC_dom	ENSG00000068354		0.602	TBC1D25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D25	HGNC	protein_coding	OTTHUMT00000060764.2	99	0.00	0	T	NM_002536		48419032	48419032	+1	no_errors	ENST00000376771	ensembl	human	known	69_37n	missense	56	32.14	27	SNP	0.007	G
TBC1D29	26083	genome.wustl.edu	37	17	28890301	28890301	+	Missense_Mutation	SNP	G	G	A	rs80145926	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr17:28890301G>A	ENST00000580161.1	+	6	2808	c.311G>A	c.(310-312)aGc>aAc	p.S104N	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000584297.1_3'UTR|TBC1D29_ENST00000579181.1_Missense_Mutation_p.S104N			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	104							Rab GTPase activator activity (GO:0005097)	p.S104N(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCAGAGAGCAGCAGAGGCCCC	0.587																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											48.0	45.0	46.0					17																	28890301		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.311G>A	17.37:g.28890301G>A	ENSP00000462799:p.Ser104Asn			Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S104N	ENST00000580161.1	37	c.311	CCDS32606.1	17	.	.	.	.	.	.	.	.	.	.	.	9.179	1.023040	0.19433	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.18873	N	0.999983	B	0.33000	0.393	B	0.42319	0.383	T	0.34850	-0.9812	7	0.72032	D	0.01	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	104	Q9UFV1	TBC29_HUMAN	N	104	.	ENSP00000330052:S104N	S	+	2	0	TBC1D29	25914427	0.966000	0.33281	0.071000	0.20095	0.071000	0.16799	-0.367000	0.07553	0.107000	0.17824	0.109000	0.15622	AGC	TBC1D29	-	NULL	ENSG00000266733		0.587	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	HGNC	protein_coding	OTTHUMT00000443632.1	41	0.00	0	G	NM_015594		28890301	28890301	+1	no_errors	ENST00000579181	ensembl	human	known	69_37n	missense	159	12.15	22	SNP	0.904	A
TBC1D29	26083	genome.wustl.edu	37	17	28890301	28890301	+	Missense_Mutation	SNP	G	G	A	rs80145926	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr17:28890301G>A	ENST00000580161.1	+	6	2808	c.311G>A	c.(310-312)aGc>aAc	p.S104N	RP11-218M11.1_ENST00000563063.1_lincRNA|TBC1D29_ENST00000584297.1_3'UTR|TBC1D29_ENST00000579181.1_Missense_Mutation_p.S104N			Q9UFV1	TBC29_HUMAN	TBC1 domain family, member 29	104							Rab GTPase activator activity (GO:0005097)	p.S104N(1)		breast(1)|kidney(1)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Myeloproliferative disorder(56;0.0255)				TCAGAGAGCAGCAGAGGCCCC	0.587																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											48.0	45.0	46.0					17																	28890301		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC096718	CCDS32606.1	17q11.2	2014-09-04			ENSG00000266733	ENSG00000266733			24509	protein-coding gene	gene with protein product						12618308	Standard	XM_006721805		Approved	DKFZP434O047	uc002hfh.3	Q9UFV1	OTTHUMG00000178857	ENST00000580161.1:c.311G>A	17.37:g.28890301G>A	ENSP00000462799:p.Ser104Asn			Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S104N	ENST00000580161.1	37	c.311	CCDS32606.1	17	.	.	.	.	.	.	.	.	.	.	.	9.179	1.023040	0.19433	.	.	ENSG00000197689	ENST00000329040	.	.	.	.	.	.	.	.	.	.	.	T	0.22820	0.0551	N	0.08118	0	0.18873	N	0.999983	B	0.33000	0.393	B	0.42319	0.383	T	0.34850	-0.9812	7	0.72032	D	0.01	.	5.89	0.18904	8.0E-4:0.0:0.9992:0.0	.	104	Q9UFV1	TBC29_HUMAN	N	104	.	ENSP00000330052:S104N	S	+	2	0	TBC1D29	25914427	0.966000	0.33281	0.071000	0.20095	0.071000	0.16799	-0.367000	0.07553	0.107000	0.17824	0.109000	0.15622	AGC	TBC1D29	-	NULL	ENSG00000266733		0.587	TBC1D29-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TBC1D29	HGNC	protein_coding	OTTHUMT00000443632.1	48	0.00	0	G	NM_015594		28890301	28890301	+1	no_errors	ENST00000579181	ensembl	human	known	69_37n	missense	159	12.15	22	SNP	0.904	A
TBC1D3P2	440452	genome.wustl.edu	37	17	60344108	60344108	+	RNA	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr17:60344108G>A	ENST00000581291.1	-	0	1026									TBC1 domain family, member 3 pseudogene 2											breast(2)|kidney(1)|lung(2)	5						ACACCTGGACGTCTTCGTGAG	0.582																																						dbGAP											0																																										-	-	-			0					17q23.2	2009-05-14				ENSG00000188755			27783	pseudogene	pseudogene							Standard	NR_027486		Approved		uc002izq.2				17.37:g.60344108G>A				RNA	SNP	-	NULL	ENST00000581291.1	37	NULL		17																																																																																			TBC1D3P2	-	-	ENSG00000188755		0.582	TBC1D3P2-002	KNOWN	basic	processed_transcript	TBC1D3P2	HGNC	pseudogene	OTTHUMT00000445021.1	15	0.00	0	G	NR_027486		60344108	60344108	-1	no_errors	ENST00000339120	ensembl	human	known	69_37n	rna	11	35.29	6	SNP	0.895	A
TCTN1	79600	genome.wustl.edu	37	12	111085646	111085646	+	Silent	SNP	A	A	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:111085646A>C	ENST00000551590.1	+	14	1869	c.1713A>C	c.(1711-1713)ccA>ccC	p.P571P	TCTN1_ENST00000397655.3_Silent_p.P557P|TCTN1_ENST00000397659.4_Silent_p.P576P|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000377654.3_3'UTR			Q2MV58	TECT1_HUMAN	tectonic family member 1	571					central nervous system interneuron axonogenesis (GO:0021956)|cilium morphogenesis (GO:0060271)|dorsal/ventral neural tube patterning (GO:0021904)|in utero embryonic development (GO:0001701)|neural tube formation (GO:0001841)|regulation of smoothened signaling pathway (GO:0008589)|somatic motor neuron differentiation (GO:0021523)|telencephalon development (GO:0021537)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCAGAGCTCCACCAGCCATCA	0.493																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AK055891	CCDS41833.1, CCDS41834.1, CCDS41835.1	12q24.11	2011-09-07			ENSG00000204852	ENSG00000204852		"""Tectonic proteins"""	26113	protein-coding gene	gene with protein product		609863				16357211	Standard	NM_001082537		Approved	FLJ21127, TECT1, JBTS13	uc001trn.4	Q2MV58	OTTHUMG00000150051	ENST00000551590.1:c.1713A>C	12.37:g.111085646A>C			A8MX11|Q49A60|Q6P5X1|Q6UXW2|Q8NAE9|Q96N72|Q9H798	Missense_Mutation	SNP	NULL	p.H56P	ENST00000551590.1	37	c.167	CCDS41835.1	12	.	.	.	.	.	.	.	.	.	.	a	9.920	1.211969	0.22289	.	.	ENSG00000204852	ENST00000549123;ENST00000481093	.	.	.	5.86	1.97	0.26223	.	.	.	.	.	T	0.43853	0.1266	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.21827	-1.0234	4	.	.	.	-12.9973	2.4035	0.04407	0.1996:0.2321:0.449:0.1193	.	.	.	.	P	27;56	.	.	H	+	2	0	TCTN1	109570029	0.185000	0.23213	0.639000	0.29394	0.873000	0.50193	0.307000	0.19296	0.089000	0.17243	-0.147000	0.13772	CAC	TCTN1	-	NULL	ENSG00000204852		0.493	TCTN1-001	KNOWN	non_canonical_TEC|basic|appris_candidate|CCDS	protein_coding	TCTN1	HGNC	protein_coding	OTTHUMT00000316016.2	113	0.87	1	A	NM_024549		111085646	111085646	+1	no_stop_codon	ENST00000481093	ensembl	human	putative	69_37n	missense	92	26.77	34	SNP	0.226	C
TG	7038	genome.wustl.edu	37	8	133935699	133935699	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr8:133935699C>T	ENST00000220616.4	+	22	4685	c.4645C>T	c.(4645-4647)Cgg>Tgg	p.R1549W	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1549	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGGCGAGGGGCGGAGGCTGCC	0.602																																						dbGAP											0													82.0	77.0	79.0					8																	133935699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4645C>T	8.37:g.133935699C>T	ENSP00000220616:p.Arg1549Trp		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R1549W	ENST00000220616.4	37	c.4645	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.302|3.302	-0.142732|-0.142732	0.06669|0.06669	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000543313;ENST00000220616	.|D	.|0.83335	.|-1.71	4.84|4.84	2.79|2.79	0.32731|0.32731	.|Thyroglobulin type-1 (4);	.|1.482110	.|0.04072	.|N	.|0.308206	T|T	0.79793|0.79793	0.4507|0.4507	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	0.999999|0.999999	.|D	.|0.54047	.|0.964	.|B	.|0.36766	.|0.232	T|T	0.65878|0.65878	-0.6061|-0.6061	5|10	.|0.52906	.|T	.|0.07	.|.	7.0705|7.0705	0.25175|0.25175	0.2004:0.6975:0.0:0.1021|0.2004:0.6975:0.0:0.1021	.|.	.|1549	.|P01266	.|THYG_HUMAN	V|W	68|355;1549	.|ENSP00000220616:R1549W	.|ENSP00000220616:R1549W	A|R	+|+	2|1	0|2	TG|TG	134004881|134004881	0.002000|0.002000	0.14202|0.14202	0.266000|0.266000	0.24541|0.24541	0.026000|0.026000	0.11368|0.11368	0.658000|0.658000	0.24979|0.24979	0.475000|0.475000	0.27415|0.27415	-1.164000|-1.164000	0.01763|0.01763	GCG|CGG	TG	-	superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	65	0.00	0	C	NM_003235		133935699	133935699	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	229	20.21	59	SNP	0.074	T
TG	7038	genome.wustl.edu	37	8	133935699	133935699	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr8:133935699C>T	ENST00000220616.4	+	22	4685	c.4645C>T	c.(4645-4647)Cgg>Tgg	p.R1549W	TG_ENST00000377869.1_Intron|TG_ENST00000542445.1_5'UTR	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1549	Thyroglobulin type-1 11. {ECO:0000255|PROSITE-ProRule:PRU00500}.				hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CGGCGAGGGGCGGAGGCTGCC	0.602																																						dbGAP											0													82.0	77.0	79.0					8																	133935699		2203	4300	6503	-	-	-	SO:0001583	missense	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.4645C>T	8.37:g.133935699C>T	ENSP00000220616:p.Arg1549Trp		O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R1549W	ENST00000220616.4	37	c.4645	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.302|3.302	-0.142732|-0.142732	0.06669|0.06669	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000519178|ENST00000543313;ENST00000220616	.|D	.|0.83335	.|-1.71	4.84|4.84	2.79|2.79	0.32731|0.32731	.|Thyroglobulin type-1 (4);	.|1.482110	.|0.04072	.|N	.|0.308206	T|T	0.79793|0.79793	0.4507|0.4507	M|M	0.65975|0.65975	2.015|2.015	0.09310|0.09310	N|N	0.999999|0.999999	.|D	.|0.54047	.|0.964	.|B	.|0.36766	.|0.232	T|T	0.65878|0.65878	-0.6061|-0.6061	5|10	.|0.52906	.|T	.|0.07	.|.	7.0705|7.0705	0.25175|0.25175	0.2004:0.6975:0.0:0.1021|0.2004:0.6975:0.0:0.1021	.|.	.|1549	.|P01266	.|THYG_HUMAN	V|W	68|355;1549	.|ENSP00000220616:R1549W	.|ENSP00000220616:R1549W	A|R	+|+	2|1	0|2	TG|TG	134004881|134004881	0.002000|0.002000	0.14202|0.14202	0.266000|0.266000	0.24541|0.24541	0.026000|0.026000	0.11368|0.11368	0.658000|0.658000	0.24979|0.24979	0.475000|0.475000	0.27415|0.27415	-1.164000|-1.164000	0.01763|0.01763	GCG|CGG	TG	-	superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	ENSG00000042832		0.602	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	73	0.00	0	C	NM_003235		133935699	133935699	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	missense	78	10.34	9	SNP	0.074	T
TLR8	51311	genome.wustl.edu	37	X	12937861	12937862	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chrX:12937861_12937862insA	ENST00000218032.6	+	2	789_790	c.702_703insA	c.(703-705)aaafs	p.K235fs	TLR8_ENST00000311912.5_Frame_Shift_Ins_p.K253fs	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	235					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	ACACCCAGATCAAATACATTAG	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.705dupA	X.37:g.12937864_12937864dupA	ENSP00000218032:p.Lys235fs		B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Frame_Shift_Ins	INS	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.Y235fs	ENST00000218032.6	37	c.702_703	CCDS14152.1	X																																																																																			TLR8	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000101916		0.411	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	50	0.00	0	-	NM_016610		12937861	12937862	+1	no_errors	ENST00000218032	ensembl	human	known	69_37n	frame_shift_ins	13	13.33	2	INS	0.115:0.064	A
TMEM144	55314	genome.wustl.edu	37	4	159158784	159158784	+	Missense_Mutation	SNP	C	C	A	rs200906774		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr4:159158784C>A	ENST00000296529.6	+	9	1191	c.671C>A	c.(670-672)gCa>gAa	p.A224E	TMEM144_ENST00000503404.1_3'UTR	NM_018342.4	NP_060812.2	Q7Z5S9	TM144_HUMAN	transmembrane protein 144	224						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		TATGCAGGGGCAAGCCAATAT	0.318																																						dbGAP											0													57.0	58.0	58.0					4																	159158784		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK002017	CCDS3799.1	4q32.1	2008-02-05			ENSG00000164124	ENSG00000164124			25633	protein-coding gene	gene with protein product						12477932	Standard	NM_018342		Approved	FLJ11155	uc003ipx.3	Q7Z5S9	OTTHUMG00000162013	ENST00000296529.6:c.671C>A	4.37:g.159158784C>A	ENSP00000296529:p.Ala224Glu		D3DP24|Q49A05|Q9NUT3	Missense_Mutation	SNP	pfam_DUF1632_TMEM144,pfam_Sugar_transport	p.A224E	ENST00000296529.6	37	c.671	CCDS3799.1	4	.	.	.	.	.	.	.	.	.	.	C	27.7	4.853026	0.91355	.	.	ENSG00000164124	ENST00000296529	T	0.45668	0.89	5.9	5.9	0.94986	.	0.111387	0.64402	D	0.000011	T	0.62146	0.2404	M	0.82323	2.585	0.80722	D	1	D	0.56287	0.975	P	0.54499	0.754	T	0.60383	-0.7274	10	0.32370	T	0.25	-84.5917	19.0419	0.93004	0.0:1.0:0.0:0.0	.	224	Q7Z5S9	TM144_HUMAN	E	224	ENSP00000296529:A224E	ENSP00000296529:A224E	A	+	2	0	TMEM144	159378234	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.759000	0.68785	2.793000	0.96121	0.591000	0.81541	GCA	TMEM144	-	pfam_DUF1632_TMEM144	ENSG00000164124		0.318	TMEM144-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM144	HGNC	protein_coding	OTTHUMT00000365597.1	196	0.51	1	C	NM_018342		159158784	159158784	+1	no_errors	ENST00000296529	ensembl	human	known	69_37n	missense	153	47.26	138	SNP	1.000	A
TMEM161B	153396	genome.wustl.edu	37	5	87516500	87516500	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:87516500T>C	ENST00000296595.6	-	5	450	c.326A>G	c.(325-327)gAt>gGt	p.D109G	TMEM161B_ENST00000509387.1_5'UTR|TMEM161B_ENST00000506536.1_5'UTR|TMEM161B_ENST00000512429.1_Missense_Mutation_p.D98G|TMEM161B_ENST00000514135.1_Missense_Mutation_p.D109G|TMEM161B_ENST00000511218.1_5'Flank	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	109						integral component of membrane (GO:0016021)				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		CACTGTGAAATCCACCAGCCA	0.343																																						dbGAP											0													46.0	54.0	51.0					5																	87516500		2193	4294	6487	-	-	-	SO:0001583	missense	0			BC037287	CCDS4065.1, CCDS75269.1, CCDS75270.1	5q14.3	2008-02-05			ENSG00000164180	ENSG00000164180			28483	protein-coding gene	gene with protein product						12477932	Standard	NM_001289008		Approved	MGC33214	uc003kjc.3	Q8NDZ6	OTTHUMG00000131323	ENST00000296595.6:c.326A>G	5.37:g.87516500T>C	ENSP00000296595:p.Asp109Gly		Q5CZH7|Q6UWQ6	Missense_Mutation	SNP	pfam_Transmembrane_161A/B	p.D109G	ENST00000296595.6	37	c.326	CCDS4065.1	5	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596383	0.86953	.	.	ENSG00000164180	ENST00000514135;ENST00000296595;ENST00000512429;ENST00000443393	.	.	.	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.76727	2.345	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.80841	-0.1202	9	0.59425	D	0.04	-3.2396	15.7836	0.78286	0.0:0.0:0.0:1.0	.	109	Q8NDZ6	T161B_HUMAN	G	109;109;98;109	.	ENSP00000296595:D109G	D	-	2	0	TMEM161B	87552256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.980000	0.70516	2.190000	0.69967	0.477000	0.44152	GAT	TMEM161B	-	pfam_Transmembrane_161A/B	ENSG00000164180		0.343	TMEM161B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM161B	HGNC	protein_coding	OTTHUMT00000254094.1	67	0.00	0	T	NM_153354		87516500	87516500	-1	no_errors	ENST00000296595	ensembl	human	known	69_37n	missense	18	74.29	52	SNP	1.000	C
TMLHE	55217	genome.wustl.edu	37	X	154743884	154743884	+	Missense_Mutation	SNP	A	A	C	rs200578955		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:154743884A>C	ENST00000334398.3	-	4	546	c.401T>G	c.(400-402)gTg>gGg	p.V134G	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.V134G	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	134					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCTGTTTTTCACCAGCCAATT	0.368																																						dbGAP											0													110.0	97.0	101.0					X																	154743884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.401T>G	X.37:g.154743884A>C	ENSP00000335261:p.Val134Gly		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.V134G	ENST00000334398.3	37	c.401	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	A	7.903	0.734877	0.15574	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.82711	-1.64;-1.64	3.92	2.75	0.32379	.	0.341226	0.30410	N	0.009700	T	0.76593	0.4009	L	0.59436	1.845	0.58432	D	0.999992	B;B;B	0.31599	0.33;0.059;0.096	B;B;B	0.33521	0.165;0.013;0.081	T	0.66101	-0.6007	10	0.25106	T	0.35	-0.0184	6.9035	0.24295	0.8815:0.0:0.1185:0.0	.	134;134;134	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	G	134	ENSP00000335261:V134G;ENSP00000358447:V134G	ENSP00000335261:V134G	V	-	2	0	TMLHE	154397078	1.000000	0.71417	0.995000	0.50966	0.875000	0.50365	3.894000	0.56250	0.383000	0.24910	0.417000	0.27973	GTG	TMLHE	-	tigrfam_Trimethyllysine_dOase	ENSG00000185973		0.368	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	160	0.00	0	A	NM_018196		154743884	154743884	-1	no_errors	ENST00000334398	ensembl	human	known	69_37n	missense	106	33.75	54	SNP	1.000	C
TNN	63923	genome.wustl.edu	37	1	175067673	175067673	+	Missense_Mutation	SNP	C	C	A	rs370669454		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:175067673C>A	ENST00000239462.4	+	9	2174	c.2061C>A	c.(2059-2061)caC>caA	p.H687Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	687	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACATGGTGCACGTGTGGGCCC	0.607																																						dbGAP											0													94.0	83.0	87.0					1																	175067673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2061C>A	1.37:g.175067673C>A	ENSP00000239462:p.His687Gln		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.H687Q	ENST00000239462.4	37	c.2061	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720882	0.15372	.	.	ENSG00000120332	ENST00000239462	T	0.55234	0.53	5.15	-4.12	0.03916	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.643437	0.17465	N	0.173314	T	0.33673	0.0871	L	0.33753	1.03	0.09310	N	0.999999	B;B	0.16396	0.017;0.004	B;B	0.19666	0.026;0.026	T	0.14448	-1.0472	10	0.36615	T	0.2	.	7.8027	0.29185	0.0:0.4418:0.1086:0.4496	.	687;687	B3KXB6;Q9UQP3	.;TENN_HUMAN	Q	687	ENSP00000239462:H687Q	ENSP00000239462:H687Q	H	+	3	2	TNN	173334296	0.000000	0.05858	0.023000	0.16930	0.462000	0.32619	-0.149000	0.10204	-0.769000	0.04620	-1.232000	0.01568	CAC	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	68	0.00	0	C	XM_040527		175067673	175067673	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	107	55.23	132	SNP	0.088	A
TNN	63923	genome.wustl.edu	37	1	175067673	175067673	+	Missense_Mutation	SNP	C	C	A	rs370669454		TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr1:175067673C>A	ENST00000239462.4	+	9	2174	c.2061C>A	c.(2059-2061)caC>caA	p.H687Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	687	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACATGGTGCACGTGTGGGCCC	0.607																																						dbGAP											0													94.0	83.0	87.0					1																	175067673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2061C>A	1.37:g.175067673C>A	ENSP00000239462:p.His687Gln		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.H687Q	ENST00000239462.4	37	c.2061	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720882	0.15372	.	.	ENSG00000120332	ENST00000239462	T	0.55234	0.53	5.15	-4.12	0.03916	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.643437	0.17465	N	0.173314	T	0.33673	0.0871	L	0.33753	1.03	0.09310	N	0.999999	B;B	0.16396	0.017;0.004	B;B	0.19666	0.026;0.026	T	0.14448	-1.0472	10	0.36615	T	0.2	.	7.8027	0.29185	0.0:0.4418:0.1086:0.4496	.	687;687	B3KXB6;Q9UQP3	.;TENN_HUMAN	Q	687	ENSP00000239462:H687Q	ENSP00000239462:H687Q	H	+	3	2	TNN	173334296	0.000000	0.05858	0.023000	0.16930	0.462000	0.32619	-0.149000	0.10204	-0.769000	0.04620	-1.232000	0.01568	CAC	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	107	0.00	0	C	XM_040527		175067673	175067673	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	59	51.24	62	SNP	0.088	A
TNN	63923	genome.wustl.edu	37	1	175067673	175067673	+	Missense_Mutation	SNP	C	C	A	rs370669454		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:175067673C>A	ENST00000239462.4	+	9	2174	c.2061C>A	c.(2059-2061)caC>caA	p.H687Q		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	687	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACATGGTGCACGTGTGGGCCC	0.607																																						dbGAP											0													94.0	83.0	87.0					1																	175067673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.2061C>A	1.37:g.175067673C>A	ENSP00000239462:p.His687Gln		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.H687Q	ENST00000239462.4	37	c.2061	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	C	7.836	0.720882	0.15372	.	.	ENSG00000120332	ENST00000239462	T	0.55234	0.53	5.15	-4.12	0.03916	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.643437	0.17465	N	0.173314	T	0.33673	0.0871	L	0.33753	1.03	0.09310	N	0.999999	B;B	0.16396	0.017;0.004	B;B	0.19666	0.026;0.026	T	0.14448	-1.0472	10	0.36615	T	0.2	.	7.8027	0.29185	0.0:0.4418:0.1086:0.4496	.	687;687	B3KXB6;Q9UQP3	.;TENN_HUMAN	Q	687	ENSP00000239462:H687Q	ENSP00000239462:H687Q	H	+	3	2	TNN	173334296	0.000000	0.05858	0.023000	0.16930	0.462000	0.32619	-0.149000	0.10204	-0.769000	0.04620	-1.232000	0.01568	CAC	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.607	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	87	0.00	0	C	XM_040527		175067673	175067673	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	107	55.23	132	SNP	0.088	A
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	51	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	111	30.67	50	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	36	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	32	23.81	10	SNP	1.000	T
TP53	7157	genome.wustl.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000420246.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		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.R175H	ENST00000269305.4	37	c.524	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	64	0.00	0	C	NM_000546		7578406	7578406	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	111	30.67	50	SNP	1.000	T
TSG101	7251	genome.wustl.edu	37	11	18524118	18524118	+	Nonsense_Mutation	SNP	G	G	T	rs202060916		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr11:18524118G>T	ENST00000251968.3	-	7	970	c.555C>A	c.(553-555)taC>taA	p.Y185*	TSG101_ENST00000357193.3_Nonsense_Mutation_p.Y80*|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000536719.1_Nonsense_Mutation_p.Y185*	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	185					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.Y185*(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GACAGCCTGGGTAACCACTAA	0.428																																					GBM(99;1348 1396 8611 26475 50572)	dbGAP											2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)											76.0	71.0	73.0					11																	18524118		2199	4293	6492	-	-	-	SO:0001587	stop_gained	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.555C>A	11.37:g.18524118G>T	ENSP00000251968:p.Tyr185*		Q9BUM5	Nonsense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.Y185*	ENST00000251968.3	37	c.555	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089354	0.76756	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	.	.	.	5.07	-0.243	0.13035	.	0.304511	0.32343	N	0.006229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5976	9.2494	0.37547	0.4826:0.0:0.5174:0.0	.	.	.	.	X	185;185;80	.	ENSP00000251968:Y185X	Y	-	3	2	TSG101	18480694	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	1.045000	0.30341	-0.220000	0.09988	0.491000	0.48974	TAC	TSG101	-	NULL	ENSG00000074319		0.428	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	121	0.00	0	G	NM_006292		18524118	18524118	-1	no_errors	ENST00000251968	ensembl	human	known	69_37n	nonsense	138	12.03	19	SNP	1.000	T
TSG101	7251	genome.wustl.edu	37	11	18524118	18524118	+	Nonsense_Mutation	SNP	G	G	T	rs202060916		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr11:18524118G>T	ENST00000251968.3	-	7	970	c.555C>A	c.(553-555)taC>taA	p.Y185*	TSG101_ENST00000357193.3_Nonsense_Mutation_p.Y80*|TSG101_ENST00000543087.1_5'UTR|TSG101_ENST00000536719.1_Nonsense_Mutation_p.Y185*	NM_006292.3	NP_006283.1	Q99816	TS101_HUMAN	tumor susceptibility 101	185					cell cycle arrest (GO:0007050)|cell division (GO:0051301)|cellular protein modification process (GO:0006464)|endosomal transport (GO:0016197)|intracellular transport of virus (GO:0075733)|keratinocyte differentiation (GO:0030216)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell growth (GO:0001558)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|viral budding (GO:0046755)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|endosome membrane (GO:0010008)|ESCRT I complex (GO:0000813)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transcription corepressor activity (GO:0003714)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)	p.Y185*(2)		kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						GACAGCCTGGGTAACCACTAA	0.428																																					GBM(99;1348 1396 8611 26475 50572)	dbGAP											2	Substitution - Nonsense(2)	large_intestine(1)|prostate(1)											76.0	71.0	73.0					11																	18524118		2199	4293	6492	-	-	-	SO:0001587	stop_gained	0			U82130	CCDS7842.1	11p15	2013-08-22	2013-08-22		ENSG00000074319	ENSG00000074319			15971	protein-coding gene	gene with protein product		601387	"""tumor susceptibility gene 10"", ""tumor susceptibility gene 101"""	TSG10		9019400, 9241264	Standard	NM_006292		Approved	VPS23	uc001mor.3	Q99816	OTTHUMG00000167725	ENST00000251968.3:c.555C>A	11.37:g.18524118G>T	ENSP00000251968:p.Tyr185*		Q9BUM5	Nonsense_Mutation	SNP	pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD	p.Y185*	ENST00000251968.3	37	c.555	CCDS7842.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089354	0.76756	.	.	ENSG00000074319	ENST00000536719;ENST00000251968;ENST00000357193	.	.	.	5.07	-0.243	0.13035	.	0.304511	0.32343	N	0.006229	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.5976	9.2494	0.37547	0.4826:0.0:0.5174:0.0	.	.	.	.	X	185;185;80	.	ENSP00000251968:Y185X	Y	-	3	2	TSG101	18480694	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	1.045000	0.30341	-0.220000	0.09988	0.491000	0.48974	TAC	TSG101	-	NULL	ENSG00000074319		0.428	TSG101-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSG101	HGNC	protein_coding	OTTHUMT00000395906.1	118	0.84	1	G	NM_006292		18524118	18524118	-1	no_errors	ENST00000251968	ensembl	human	known	69_37n	nonsense	138	12.03	19	SNP	1.000	T
TTBK2	146057	genome.wustl.edu	37	15	43132600	43132600	+	Missense_Mutation	SNP	A	A	C	rs141523080		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr15:43132600A>C	ENST00000267890.6	-	4	357	c.249T>G	c.(247-249)tgT>tgG	p.C83W	TTBK2_ENST00000567274.1_Missense_Mutation_p.C83W|TTBK2_ENST00000567840.1_Missense_Mutation_p.C83W	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CATTCCTCCCACAGCCAATAA	0.318																																						dbGAP											0													133.0	126.0	128.0					15																	43132600		1820	4084	5904	-	-	-	SO:0001583	missense	0			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.249T>G	15.37:g.43132600A>C	ENSP00000267890:p.Cys83Trp		O94932|Q6ZN52|Q8IVV1	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.C83W	ENST00000267890.6	37	c.249	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750201	0.30955	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.64438	-0.1	5.31	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082061	0.85682	D	0.000000	T	0.73892	0.3645	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.75193	-0.3404	10	0.87932	D	0	.	11.2089	0.48786	0.9264:0.0:0.0736:0.0	.	63;14;83;83	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	W	83;13;63	ENSP00000267890:C83W	ENSP00000263802:C63W	C	-	3	2	TTBK2	40919892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.929000	0.48916	0.955000	0.37878	0.477000	0.44152	TGT	TTBK2	-	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	ENSG00000128881		0.318	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	97	0.00	0	A	NM_173500		43132600	43132600	-1	no_errors	ENST00000267890	ensembl	human	known	69_37n	missense	81	31.09	37	SNP	1.000	C
TTBK2	146057	genome.wustl.edu	37	15	43132600	43132600	+	Missense_Mutation	SNP	A	A	C	rs141523080		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr15:43132600A>C	ENST00000267890.6	-	4	357	c.249T>G	c.(247-249)tgT>tgG	p.C83W	TTBK2_ENST00000567274.1_Missense_Mutation_p.C83W|TTBK2_ENST00000567840.1_Missense_Mutation_p.C83W	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	83	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CATTCCTCCCACAGCCAATAA	0.318																																						dbGAP											0													133.0	126.0	128.0					15																	43132600		1820	4084	5904	-	-	-	SO:0001583	missense	0			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.249T>G	15.37:g.43132600A>C	ENSP00000267890:p.Cys83Trp		O94932|Q6ZN52|Q8IVV1	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.C83W	ENST00000267890.6	37	c.249	CCDS42029.1	15	.	.	.	.	.	.	.	.	.	.	A	11.81	1.750201	0.30955	.	.	ENSG00000128881	ENST00000267890;ENST00000399479;ENST00000263802	T	0.64438	-0.1	5.31	4.18	0.49190	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.082061	0.85682	D	0.000000	T	0.73892	0.3645	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.999	T	0.75193	-0.3404	10	0.87932	D	0	.	11.2089	0.48786	0.9264:0.0:0.0736:0.0	.	63;14;83;83	Q8IWY7;Q6IQ55-2;Q6IQ55-3;Q6IQ55	.;.;.;TTBK2_HUMAN	W	83;13;63	ENSP00000267890:C83W	ENSP00000263802:C63W	C	-	3	2	TTBK2	40919892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.929000	0.48916	0.955000	0.37878	0.477000	0.44152	TGT	TTBK2	-	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	ENSG00000128881		0.318	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK2	HGNC	protein_coding	OTTHUMT00000431106.2	120	0.00	0	A	NM_173500		43132600	43132600	-1	no_errors	ENST00000267890	ensembl	human	known	69_37n	missense	81	31.09	37	SNP	1.000	C
UACA	55075	genome.wustl.edu	37	15	70949398	70949398	+	Silent	SNP	G	G	A	rs145929072	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr15:70949398G>A	ENST00000322954.6	-	19	4433	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	UACA_ENST00000379983.2_Silent_p.C1403C|UACA_ENST00000539319.1_Silent_p.C1307C|UACA_ENST00000560441.1_Silent_p.C1401C	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1416					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						CTAACGGCTAGCACACAAGCC	0.473																																						dbGAP											0													61.0	59.0	60.0					15																	70949398		2199	4298	6497	-	-	-	SO:0001819	synonymous_variant	0			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.4248C>T	15.37:g.70949398G>A			G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.C1416	ENST00000322954.6	37	c.4248	CCDS10235.1	15																																																																																			UACA	-	NULL	ENSG00000137831		0.473	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	73	0.00	0	G			70949398	70949398	-1	no_errors	ENST00000322954	ensembl	human	known	69_37n	silent	20	75.00	60	SNP	1.000	A
UNC13A	23025	genome.wustl.edu	37	19	17731515	17731515	+	Missense_Mutation	SNP	G	G	T	rs201764059		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr19:17731515G>T	ENST00000519716.2	-	38	4258	c.4259C>A	c.(4258-4260)cCa>cAa	p.P1420Q	UNC13A_ENST00000551649.1_Missense_Mutation_p.P1420Q|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1420Q|UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000428389.2_Missense_Mutation_p.P1508Q|UNC13A_ENST00000550896.1_Intron	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1420	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGAGTGGCTTGGCAATTTCAC	0.602																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4259C>A	19.37:g.17731515G>T	ENSP00000429562:p.Pro1420Gln		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.P1508Q	ENST00000519716.2	37	c.4523	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	G	9.967	1.224534	0.22457	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649	T;T;T;T	0.79845	-1.29;-1.31;-1.29;-1.19	4.02	4.02	0.46733	Mammalian uncoordinated homology 13, domain 2 (1);Mammalian uncoordinated homology 13, subgroup, domain 2 (1);	487.764000	0.00166	U	0.000000	T	0.69975	0.3171	N	0.08118	0	0.31271	N	0.691693	B	0.19706	0.038	B	0.20767	0.031	T	0.54964	-0.8214	10	0.29301	T	0.29	.	13.6921	0.62553	0.0:0.0:1.0:0.0	.	1420	Q9UPW8	UN13A_HUMAN	Q	1420;1508;1420;1420	ENSP00000429562:P1420Q;ENSP00000400409:P1508Q;ENSP00000252773:P1420Q;ENSP00000447236:P1420Q	ENSP00000252773:P1420Q	P	-	2	0	UNC13A	17592515	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.417000	0.59822	1.795000	0.52594	0.298000	0.19748	CCA	UNC13A	-	pfam_Munc13_subgr_dom-2	ENSG00000130477		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	123	0.81	1	G	XM_038604		17731515	17731515	-1	no_errors	ENST00000428389	ensembl	human	known	69_37n	missense	89	52.38	99	SNP	1.000	T
UNC13A	23025	genome.wustl.edu	37	19	17731523	17731523	+	Silent	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr19:17731523C>T	ENST00000519716.2	-	38	4250	c.4251G>A	c.(4249-4251)gtG>gtA	p.V1417V	UNC13A_ENST00000551649.1_Silent_p.V1417V|UNC13A_ENST00000252773.7_Silent_p.V1417V|UNC13A_ENST00000552293.1_Intron|UNC13A_ENST00000428389.2_Silent_p.V1505V|UNC13A_ENST00000550896.1_Intron	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1417	MHD2. {ECO:0000255|PROSITE- ProRule:PRU00588}.				beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTGGCAATTTCACCCTGCCCT	0.602																																						dbGAP											0													49.0	66.0	60.0					19																	17731523		2046	4193	6239	-	-	-	SO:0001819	synonymous_variant	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.4251G>A	19.37:g.17731523C>T			E5RHY9	Silent	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.V1505	ENST00000519716.2	37	c.4515	CCDS46013.2	19																																																																																			UNC13A	-	pfam_Munc13_subgr_dom-2	ENSG00000130477		0.602	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2	114	0.00	0	C	XM_038604		17731523	17731523	-1	no_errors	ENST00000428389	ensembl	human	known	69_37n	silent	81	21.15	22	SNP	1.000	T
USO1	8615	genome.wustl.edu	37	4	76725346	76725346	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr4:76725346G>T	ENST00000538159.1	+	19	2073	c.2073G>T	c.(2071-2073)caG>caT	p.Q691H	USO1_ENST00000514213.2_Missense_Mutation_p.Q667H			O60763	USO1_HUMAN	USO1 vesicle transport factor	682					ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi vesicle docking (GO:0048211)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|mitotic cell cycle (GO:0000278)|transcytosis (GO:0045056)|vesicle fusion with Golgi apparatus (GO:0048280)	endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAAATGAACAGCTCCAGACGG	0.383																																						dbGAP											0													71.0	67.0	68.0					4																	76725346		1955	4149	6104	-	-	-	SO:0001583	missense	0			AL832010	CCDS75144.1	4q21.1	2012-12-10	2012-12-10		ENSG00000138768	ENSG00000138768			30904	protein-coding gene	gene with protein product	"""vesicle docking protein"", ""transcytosis associated protein"""	603344	"""USO1 homolog, vesicle docking protein (yeast)"", ""USO1 vesicle docking protein homolog (yeast)"""			9478999, 9150144, 12077354, 15979508, 14736916	Standard	XM_006714395		Approved	TAP, VDP, p115	uc003hiu.3	O60763	OTTHUMG00000160952	ENST00000538159.1:c.2073G>T	4.37:g.76725346G>T	ENSP00000440586:p.Gln691His		B2RAQ0|Q6PK63|Q86TB8|Q8N592	Missense_Mutation	SNP	pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SNARE	p.Q691H	ENST00000538159.1	37	c.2073		4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.049401|4.049401	0.75846|0.75846	.|.	.|.	ENSG00000138768|ENSG00000138768	ENST00000508939;ENST00000538159;ENST00000514213;ENST00000264904|ENST00000441296	T;T|.	0.67523|.	-0.27;-0.27|.	5.35|5.35	4.48|4.48	0.54585|0.54585	Armadillo-type fold (1);|.	0.166180|.	0.56097|.	N|.	0.000038|.	T|T	0.63094|0.63094	0.2482|0.2482	M|M	0.61703|0.61703	1.905|1.905	0.43347|0.43347	D|D	0.995404|0.995404	P;P|.	0.51240|.	0.941;0.943|.	P;P|.	0.53809|.	0.735;0.466|.	T|T	0.61202|0.61202	-0.7110|-0.7110	10|5	0.59425|.	D|.	0.04|.	.|.	10.1881|10.1881	0.43011|0.43011	0.0739:0.138:0.788:0.0|0.0739:0.138:0.788:0.0	.|.	691;682|.	F5GYR8;O60763|.	.;USO1_HUMAN|.	H|I	517;691;667;610|358	ENSP00000440586:Q691H;ENSP00000444850:Q667H|.	ENSP00000264904:Q610H|.	Q|S	+|+	3|2	2|0	USO1|USO1	76944370|76944370	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	3.649000|3.649000	0.54417|0.54417	1.213000|1.213000	0.43380|0.43380	0.561000|0.561000	0.74099|0.74099	CAG|AGC	USO1	-	superfamily_ARM-type_fold	ENSG00000138768		0.383	USO1-202	KNOWN	basic|appris_candidate_longest	protein_coding	USO1	HGNC	protein_coding		37	0.00	0	G	NM_003715		76725346	76725346	+1	no_errors	ENST00000538159	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	T
USP12	219333	genome.wustl.edu	37	13	27664021	27664021	+	Splice_Site	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr13:27664021G>A	ENST00000282344.6	-	6	989	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	245	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353																																					Ovarian(37;808 911 7590 44442 44991)	dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	60.0	60.0					13																	27664021		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.734+1C>T	13.37:g.27664021G>A			A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R245W	ENST00000282344.6	37	c.733	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830023	0.71258	.	.	ENSG00000152484	ENST00000282344	T	0.33654	1.4	5.22	4.25	0.50352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.74954	-0.3488	10	0.87932	D	0	-5.0269	10.9344	0.47237	0.0:0.0:0.5944:0.4056	.	245	O75317	UBP12_HUMAN	W	245	ENSP00000282344:R245W	ENSP00000282344:R245W	R	-	1	2	USP12	26562021	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.287000	0.59001	2.615000	0.88500	0.591000	0.81541	CGG	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000152484		0.353	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	201	0.00	0	G	NM_182488	Missense_Mutation	27664021	27664021	-1	no_errors	ENST00000282344	ensembl	human	known	69_37n	missense	117	34.27	61	SNP	1.000	A
USP12	219333	genome.wustl.edu	37	13	27664021	27664021	+	Splice_Site	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr13:27664021G>A	ENST00000282344.6	-	6	989	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	245	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353																																					Ovarian(37;808 911 7590 44442 44991)	dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	60.0	60.0					13																	27664021		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.734+1C>T	13.37:g.27664021G>A			A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R245W	ENST00000282344.6	37	c.733	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830023	0.71258	.	.	ENSG00000152484	ENST00000282344	T	0.33654	1.4	5.22	4.25	0.50352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.74954	-0.3488	10	0.87932	D	0	-5.0269	10.9344	0.47237	0.0:0.0:0.5944:0.4056	.	245	O75317	UBP12_HUMAN	W	245	ENSP00000282344:R245W	ENSP00000282344:R245W	R	-	1	2	USP12	26562021	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.287000	0.59001	2.615000	0.88500	0.591000	0.81541	CGG	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000152484		0.353	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	29	0.00	0	G	NM_182488	Missense_Mutation	27664021	27664021	-1	no_errors	ENST00000282344	ensembl	human	known	69_37n	missense	15	16.67	3	SNP	1.000	A
USP12	219333	genome.wustl.edu	37	13	27664021	27664021	+	Splice_Site	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:27664021G>A	ENST00000282344.6	-	6	989	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	245	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353																																					Ovarian(37;808 911 7590 44442 44991)	dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	60.0	60.0					13																	27664021		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.734+1C>T	13.37:g.27664021G>A			A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.R245W	ENST00000282344.6	37	c.733	CCDS31952.1	13	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830023	0.71258	.	.	ENSG00000152484	ENST00000282344	T	0.33654	1.4	5.22	4.25	0.50352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.74954	-0.3488	10	0.87932	D	0	-5.0269	10.9344	0.47237	0.0:0.0:0.5944:0.4056	.	245	O75317	UBP12_HUMAN	W	245	ENSP00000282344:R245W	ENSP00000282344:R245W	R	-	1	2	USP12	26562021	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.287000	0.59001	2.615000	0.88500	0.591000	0.81541	CGG	USP12	-	pfam_Peptidase_C19,pfscan_Peptidase_C19	ENSG00000152484		0.353	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP12	HGNC	protein_coding	OTTHUMT00000044264.1	143	0.00	0	G	NM_182488	Missense_Mutation	27664021	27664021	-1	no_errors	ENST00000282344	ensembl	human	known	69_37n	missense	117	34.27	61	SNP	1.000	A
USP26	83844	genome.wustl.edu	37	X	132162002	132162002	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:132162002T>A	ENST00000511190.1	-	6	716	c.247A>T	c.(247-249)Att>Ttt	p.I83F	USP26_ENST00000370832.1_Missense_Mutation_p.I83F|USP26_ENST00000406273.1_Missense_Mutation_p.I83F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	83					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AATCCTTCAATAAACAAGCCA	0.368																																					NSCLC(104;342 1621 36940 47097 52632)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF285593	CCDS14635.1	Xq26.2	2012-07-13	2005-08-08		ENSG00000134588	ENSG00000134588	3.4.19.12	"""Ubiquitin-specific peptidases"""	13485	protein-coding gene	gene with protein product		300309	"""ubiquitin specific protease 26"""			12838346	Standard	NM_031907		Approved		uc011mvf.2	Q9BXU7	OTTHUMG00000022429	ENST00000511190.1:c.247A>T	X.37:g.132162002T>A	ENSP00000423390:p.Ile83Phe		B9WRT6|Q5H9H4	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.I83F	ENST00000511190.1	37	c.247	CCDS14635.1	X	.	.	.	.	.	.	.	.	.	.	T	13.61	2.289641	0.40494	.	.	ENSG00000134588	ENST00000370832;ENST00000511190;ENST00000406273	T;T;T	0.63096	-0.02;-0.02;-0.02	4.01	-1.3	0.09259	.	0.811412	0.10169	N	0.707399	T	0.71324	0.3326	M	0.72894	2.215	0.09310	N	1	P	0.52692	0.955	P	0.60345	0.873	T	0.62520	-0.6837	10	0.87932	D	0	-5.748	8.2197	0.31534	0.0:0.5971:0.0:0.4029	.	83	Q9BXU7	UBP26_HUMAN	F	83	ENSP00000359869:I83F;ENSP00000423390:I83F;ENSP00000384360:I83F	ENSP00000359869:I83F	I	-	1	0	USP26	131989668	0.546000	0.26457	0.003000	0.11579	0.026000	0.11368	-0.169000	0.09911	-0.406000	0.07588	-0.466000	0.05196	ATT	USP26	-	NULL	ENSG00000134588		0.368	USP26-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP26	HGNC	protein_coding	OTTHUMT00000359441.1	185	0.00	0	T	NM_031907		132162002	132162002	-1	no_errors	ENST00000370832	ensembl	human	known	69_37n	missense	91	43.48	70	SNP	0.004	A
VWA8	23078	genome.wustl.edu	37	13	42273293	42273293	+	Missense_Mutation	SNP	T	T	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:42273293T>G	ENST00000379310.3	-	29	3546	c.3478A>C	c.(3478-3480)Aca>Cca	p.T1160P		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1160						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										CCATTGGCTGTTCTTGGGAAG	0.468																																						dbGAP											0													94.0	95.0	95.0					13																	42273293		1893	4107	6000	-	-	-	SO:0001583	missense	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3478A>C	13.37:g.42273293T>G	ENSP00000368612:p.Thr1160Pro		O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.T1160P	ENST00000379310.3	37	c.3478	CCDS41881.1	13	.	.	.	.	.	.	.	.	.	.	T	8.169	0.791264	0.16258	.	.	ENSG00000102763	ENST00000251030;ENST00000379310	T	0.10763	2.84	5.5	1.65	0.23941	.	0.255145	0.37437	N	0.002096	T	0.13114	0.0318	L	0.59436	1.845	0.80722	D	1	P	0.48503	0.911	P	0.48425	0.577	T	0.08411	-1.0723	10	0.34782	T	0.22	.	4.6289	0.12491	0.1193:0.0663:0.1249:0.6895	.	1160	A3KMH1	K0564_HUMAN	P	1064;1160	ENSP00000368612:T1160P	ENSP00000251030:T1064P	T	-	1	0	KIAA0564	41171293	1.000000	0.71417	0.224000	0.23877	0.114000	0.19823	2.354000	0.44098	0.120000	0.18254	0.477000	0.44152	ACA	VWA8	-	NULL	ENSG00000102763		0.468	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	117	0.00	0	T	NM_015058		42273293	42273293	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	missense	69	36.94	41	SNP	0.991	G
VWA8	23078	genome.wustl.edu	37	13	42273324	42273324	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr13:42273324G>A	ENST00000379310.3	-	29	3515	c.3447C>T	c.(3445-3447)ttC>ttT	p.F1149F		NM_015058.1	NP_055873.1	A3KMH1	VWA8_HUMAN	von Willebrand factor A domain containing 8	1149						extracellular region (GO:0005576)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)										AGTCCACAAAGAAGCCACTTT	0.433																																						dbGAP											0													89.0	91.0	91.0					13																	42273324		1877	4101	5978	-	-	-	SO:0001819	synonymous_variant	0			AB011136	CCDS31963.1, CCDS41881.1	13q14.11	2013-11-18	2012-08-02	2012-08-02	ENSG00000102763	ENSG00000102763			29071	protein-coding gene	gene with protein product			"""KIAA0564"""	KIAA0564		9628581	Standard	NM_015058		Approved		uc001uyj.3	A3KMH1	OTTHUMG00000016799	ENST00000379310.3:c.3447C>T	13.37:g.42273324G>A			O60310|Q5JTP6|Q5VW08|Q7Z6I9|Q86YC9|Q8N3E4	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A	p.F1149	ENST00000379310.3	37	c.3447	CCDS41881.1	13																																																																																			VWA8	-	NULL	ENSG00000102763		0.433	VWA8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA8	HGNC	protein_coding	OTTHUMT00000354828.2	110	0.90	1	G	NM_015058		42273324	42273324	-1	no_errors	ENST00000379310	ensembl	human	known	69_37n	silent	100	23.08	30	SNP	1.000	A
WASH6P	653440	genome.wustl.edu	37	X	155253959	155253959	+	RNA	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chrX:155253959C>T	ENST00000461007.1	+	0	2875				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CTGGAGCCTGCGGTCGGAGGG	0.657																																						dbGAP											0																																										-	-	-			0			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155253959C>T			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			WASH6P	-	-	ENSG00000182484		0.657	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	51	0.00	0	C	NG_008380		155253959	155253959	+1	no_errors	ENST00000461007	ensembl	human	known	69_37n	rna	17	15.00	3	SNP	0.028	T
WDR3	10885	genome.wustl.edu	37	1	118502003	118502003	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:118502003C>T	ENST00000349139.5	+	27	2812	c.2765C>T	c.(2764-2766)aCt>aTt	p.T922I	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	922						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.T922I(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCTGATGCTACTAGCCACTTG	0.388																																						dbGAP											1	Substitution - Missense(1)	prostate(1)											84.0	89.0	87.0					1																	118502003		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.2765C>T	1.37:g.118502003C>T	ENSP00000308179:p.Thr922Ile			Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T922I	ENST00000349139.5	37	c.2765	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946461	0.92593	.	.	ENSG00000065183	ENST00000349139	T	0.54071	0.59	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.47266	0.1436	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	T	0.58567	-0.7614	10	0.48119	T	0.1	-14.2338	19.6669	0.95896	0.0:1.0:0.0:0.0	.	922	Q9UNX4	WDR3_HUMAN	I	922	ENSP00000308179:T922I	ENSP00000308179:T922I	T	+	2	0	WDR3	118303526	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	5.193000	0.65120	2.665000	0.90641	0.609000	0.83330	ACT	WDR3	-	NULL	ENSG00000065183		0.388	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	222	0.00	0	C	NM_006784		118502003	118502003	+1	no_errors	ENST00000349139	ensembl	human	known	69_37n	missense	149	30.56	66	SNP	1.000	T
WDR44	54521	genome.wustl.edu	37	X	117526710	117526710	+	Missense_Mutation	SNP	G	G	A	rs202158742		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:117526710G>A	ENST00000254029.3	+	4	697	c.302G>A	c.(301-303)aGa>aAa	p.R101K	WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371822.5_Missense_Mutation_p.R76K|WDR44_ENST00000371825.3_Missense_Mutation_p.R101K	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	101	Binding activity.					endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						ATTGTGGCTAGAACAGATCTG	0.423																																						dbGAP											0													90.0	83.0	86.0					X																	117526710		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.302G>A	X.37:g.117526710G>A	ENSP00000254029:p.Arg101Lys		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R101K	ENST00000254029.3	37	c.302	CCDS14572.1	X	.	.	.	.	.	.	.	.	.	.	G	0.125	-1.121208	0.01785	.	.	ENSG00000131725	ENST00000371822;ENST00000254029;ENST00000371825	T;T;T	0.72051	-0.62;-0.02;0.11	5.51	-2.02	0.07388	.	0.864483	0.10350	N	0.685204	T	0.37489	0.1005	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.33420	-0.9869	10	0.05959	T	0.93	-12.1897	7.1478	0.25593	0.3167:0.2726:0.4107:0.0	.	76;101;101	F8W913;Q5JSH3-2;Q5JSH3	.;.;WDR44_HUMAN	K	76;101;101	ENSP00000360887:R76K;ENSP00000254029:R101K;ENSP00000360890:R101K	ENSP00000254029:R101K	R	+	2	0	WDR44	117410738	0.161000	0.22892	0.171000	0.22900	0.235000	0.25334	0.150000	0.16263	-0.233000	0.09797	-0.176000	0.13171	AGA	WDR44	-	NULL	ENSG00000131725		0.423	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR44	HGNC	protein_coding	OTTHUMT00000058001.1	89	0.00	0	G	NM_019045		117526710	117526710	+1	no_errors	ENST00000254029	ensembl	human	known	69_37n	missense	38	40.62	26	SNP	0.000	A
WDR63	126820	genome.wustl.edu	37	1	85583497	85583497	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr1:85583497C>A	ENST00000294664.6	+	17	2052	c.1872C>A	c.(1870-1872)ctC>ctA	p.L624L	WDR63_ENST00000326813.8_Silent_p.L585L|WDR63_ENST00000370596.1_Silent_p.L585L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	624										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCAATCTTCTCAAGCCAATAG	0.358																																						dbGAP											0													94.0	95.0	94.0					1																	85583497		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1872C>A	1.37:g.85583497C>A			A8K988|Q96L72|Q96NU4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L624	ENST00000294664.6	37	c.1872	CCDS702.1	1																																																																																			WDR63	-	superfamily_WD40_repeat_dom	ENSG00000162643		0.358	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	136	0.73	1	C	NM_145172		85583497	85583497	+1	no_errors	ENST00000294664	ensembl	human	known	69_37n	silent	72	33.94	37	SNP	0.802	A
WDR63	126820	genome.wustl.edu	37	1	85583497	85583497	+	Silent	SNP	C	C	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr1:85583497C>A	ENST00000294664.6	+	17	2052	c.1872C>A	c.(1870-1872)ctC>ctA	p.L624L	WDR63_ENST00000326813.8_Silent_p.L585L|WDR63_ENST00000370596.1_Silent_p.L585L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	624										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CCAATCTTCTCAAGCCAATAG	0.358																																						dbGAP											0													94.0	95.0	94.0					1																	85583497		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS702.1, CCDS72818.1	1p22.3	2014-02-21	2013-02-19	2013-02-19	ENSG00000162643	ENSG00000162643		"""WD repeat domain containing"""	30711	protein-coding gene	gene with protein product						21953912	Standard	XM_005270438		Approved	DIC3, FLJ30067, NYD-SP29	uc001dkt.3	Q8IWG1	OTTHUMG00000009953	ENST00000294664.6:c.1872C>A	1.37:g.85583497C>A			A8K988|Q96L72|Q96NU4	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.L624	ENST00000294664.6	37	c.1872	CCDS702.1	1																																																																																			WDR63	-	superfamily_WD40_repeat_dom	ENSG00000162643		0.358	WDR63-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR63	HGNC	protein_coding	OTTHUMT00000027565.2	115	0.00	0	C	NM_145172		85583497	85583497	+1	no_errors	ENST00000294664	ensembl	human	known	69_37n	silent	72	33.94	37	SNP	0.802	A
WHSC1	7468	genome.wustl.edu	37	4	1957868	1957868	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr4:1957868G>C	ENST00000382895.3	+	17	3265	c.2834G>C	c.(2833-2835)gGc>gCc	p.G945A	WHSC1_ENST00000508803.1_Missense_Mutation_p.G945A|WHSC1_ENST00000382888.3_Missense_Mutation_p.G293A|WHSC1_ENST00000382892.2_Missense_Mutation_p.G945A|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.G945A	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	945					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GGGGACCGGGGCAGCCGCTAC	0.507			T	IGH@	MM																																	dbGAP		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													72.0	89.0	83.0					4																	1957868		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.2834G>C	4.37:g.1957868G>C	ENSP00000372351:p.Gly945Ala		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.G945A	ENST00000382895.3	37	c.2834	CCDS33940.1	4	.	.	.	.	.	.	.	.	.	.	G	34	5.349492	0.95830	.	.	ENSG00000109685	ENST00000508803;ENST00000382891;ENST00000382892;ENST00000382895;ENST00000382888	T;T;T;T;T	0.69435	-0.4;-0.4;-0.4;-0.4;-0.4	5.54	5.54	0.83059	.	0.000000	0.56097	D	0.000025	T	0.76357	0.3976	L	0.46157	1.445	0.80722	D	1	B;D	0.63880	0.389;0.993	B;P	0.61070	0.411;0.883	T	0.77330	-0.2628	10	0.62326	D	0.03	.	19.4951	0.95069	0.0:0.0:1.0:0.0	.	293;945	A2A2T2;O96028	.;NSD2_HUMAN	A	945;945;945;945;293	ENSP00000423972:G945A;ENSP00000372347:G945A;ENSP00000372348:G945A;ENSP00000372351:G945A;ENSP00000372344:G293A	ENSP00000372344:G293A	G	+	2	0	WHSC1	1927666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.661000	0.98601	2.609000	0.88269	0.655000	0.94253	GGC	WHSC1	-	NULL	ENSG00000109685		0.507	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	114	0.87	1	G	NM_133330		1957868	1957868	+1	no_errors	ENST00000382891	ensembl	human	known	69_37n	missense	55	35.63	31	SNP	1.000	C
XPO5	57510	genome.wustl.edu	37	6	43516145	43516145	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr6:43516145A>G	ENST00000265351.7	-	18	2123	c.1913T>C	c.(1912-1914)cTa>cCa	p.L638P	XPO5_ENST00000424378.2_5'Flank	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	638	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGTCAGGAGTAGCTCATTGGA	0.433																																						dbGAP											0													85.0	80.0	82.0					6																	43516145		1899	4112	6011	-	-	-	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1913T>C	6.37:g.43516145A>G	ENSP00000265351:p.Leu638Pro		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L638P	ENST00000265351.7	37	c.1913	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683623	0.29872	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66099	-0.19	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.395730	0.26467	N	0.024203	T	0.38612	0.1047	L	0.48642	1.525	0.80722	D	1	B	0.23442	0.085	B	0.17098	0.017	T	0.33954	-0.9848	10	0.29301	T	0.29	-9.9489	11.6211	0.51119	0.8673:0.0:0.0:0.1327	.	638	Q9HAV4	XPO5_HUMAN	P	638;343;178;266	ENSP00000265351:L638P	ENSP00000265351:L638P	L	-	2	0	XPO5	43624123	0.998000	0.40836	0.975000	0.42487	0.979000	0.70002	3.575000	0.53870	2.302000	0.77476	0.533000	0.62120	CTA	XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.433	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	105	0.00	0	A	NM_020750		43516145	43516145	-1	no_errors	ENST00000265351	ensembl	human	known	69_37n	missense	108	52.38	121	SNP	0.924	G
XPO5	57510	genome.wustl.edu	37	6	43516145	43516145	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr6:43516145A>G	ENST00000265351.7	-	18	2123	c.1913T>C	c.(1912-1914)cTa>cCa	p.L638P	XPO5_ENST00000424378.2_5'Flank	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	638	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGTCAGGAGTAGCTCATTGGA	0.433																																						dbGAP											0													85.0	80.0	82.0					6																	43516145		1899	4112	6011	-	-	-	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1913T>C	6.37:g.43516145A>G	ENSP00000265351:p.Leu638Pro		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L638P	ENST00000265351.7	37	c.1913	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683623	0.29872	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66099	-0.19	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.395730	0.26467	N	0.024203	T	0.38612	0.1047	L	0.48642	1.525	0.80722	D	1	B	0.23442	0.085	B	0.17098	0.017	T	0.33954	-0.9848	10	0.29301	T	0.29	-9.9489	11.6211	0.51119	0.8673:0.0:0.0:0.1327	.	638	Q9HAV4	XPO5_HUMAN	P	638;343;178;266	ENSP00000265351:L638P	ENSP00000265351:L638P	L	-	2	0	XPO5	43624123	0.998000	0.40836	0.975000	0.42487	0.979000	0.70002	3.575000	0.53870	2.302000	0.77476	0.533000	0.62120	CTA	XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.433	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	105	0.00	0	A	NM_020750		43516145	43516145	-1	no_errors	ENST00000265351	ensembl	human	known	69_37n	missense	51	50.96	53	SNP	0.924	G
XPO5	57510	genome.wustl.edu	37	6	43516145	43516145	+	Missense_Mutation	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr6:43516145A>G	ENST00000265351.7	-	18	2123	c.1913T>C	c.(1912-1914)cTa>cCa	p.L638P	XPO5_ENST00000424378.2_5'Flank	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	638	Necessary for interaction with ILF3.				gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			TGTCAGGAGTAGCTCATTGGA	0.433																																						dbGAP											0													85.0	80.0	82.0					6																	43516145		1899	4112	6011	-	-	-	SO:0001583	missense	0			AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.1913T>C	6.37:g.43516145A>G	ENSP00000265351:p.Leu638Pro		Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold,smart_Importin-beta_N	p.L638P	ENST00000265351.7	37	c.1913	CCDS47430.1	6	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683623	0.29872	.	.	ENSG00000124571	ENST00000265351;ENST00000436943;ENST00000372258;ENST00000439465	T	0.66099	-0.19	6.03	6.03	0.97812	Armadillo-like helical (1);Armadillo-type fold (1);	0.395730	0.26467	N	0.024203	T	0.38612	0.1047	L	0.48642	1.525	0.80722	D	1	B	0.23442	0.085	B	0.17098	0.017	T	0.33954	-0.9848	10	0.29301	T	0.29	-9.9489	11.6211	0.51119	0.8673:0.0:0.0:0.1327	.	638	Q9HAV4	XPO5_HUMAN	P	638;343;178;266	ENSP00000265351:L638P	ENSP00000265351:L638P	L	-	2	0	XPO5	43624123	0.998000	0.40836	0.975000	0.42487	0.979000	0.70002	3.575000	0.53870	2.302000	0.77476	0.533000	0.62120	CTA	XPO5	-	superfamily_ARM-type_fold	ENSG00000124571		0.433	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPO5	HGNC	protein_coding	OTTHUMT00000040657.2	119	0.00	0	A	NM_020750		43516145	43516145	-1	no_errors	ENST00000265351	ensembl	human	known	69_37n	missense	108	52.38	121	SNP	0.924	G
YIPF4	84272	genome.wustl.edu	37	2	32515691	32515691	+	Missense_Mutation	SNP	T	T	A	rs76251139		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr2:32515691T>A	ENST00000238831.4	+	2	465	c.219T>A	c.(217-219)gaT>gaA	p.D73E		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4	73						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)				kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					ATCCTGAAGATAACAAGCCAC	0.328																																						dbGAP											0													32.0	36.0	35.0					2																	32515691		2200	4298	6498	-	-	-	SO:0001583	missense	0			AK098486	CCDS1781.1	2p22.3	2008-02-05			ENSG00000119820	ENSG00000119820		"""Yip1 domain family"""	28145	protein-coding gene	gene with protein product						12477932	Standard	NM_032312		Approved	MGC11061, FinGER4	uc002rok.3	Q9BSR8	OTTHUMG00000128452	ENST00000238831.4:c.219T>A	2.37:g.32515691T>A	ENSP00000238831:p.Asp73Glu			Missense_Mutation	SNP	pfam_Yip1	p.D73E	ENST00000238831.4	37	c.219	CCDS1781.1	2	.	.	.	.	.	.	.	.	.	.	T	16.18	3.051231	0.55218	.	.	ENSG00000119820	ENST00000238831	T	0.45668	0.89	5.38	4.24	0.50183	.	0.048001	0.85682	D	0.000000	T	0.29783	0.0744	L	0.37507	1.11	0.45515	D	0.998476	B	0.17667	0.023	B	0.15484	0.013	T	0.09818	-1.0657	10	0.30078	T	0.28	.	8.0476	0.30559	0.0:0.1529:0.0:0.8471	.	73	Q9BSR8	YIPF4_HUMAN	E	73	ENSP00000238831:D73E	ENSP00000238831:D73E	D	+	3	2	YIPF4	32369195	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.017000	0.40981	2.035000	0.60131	0.528000	0.53228	GAT	YIPF4	-	NULL	ENSG00000119820		0.328	YIPF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF4	HGNC	protein_coding	OTTHUMT00000250250.3	103	0.00	0	T	NM_032312		32515691	32515691	+1	no_errors	ENST00000238831	ensembl	human	known	69_37n	missense	113	25.49	39	SNP	1.000	A
ZDHHC11	79844	genome.wustl.edu	37	5	833915	833915	+	Missense_Mutation	SNP	G	G	T	rs605088	byFrequency	TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr5:833915G>T	ENST00000283441.8	-	7	1291	c.908C>A	c.(907-909)gCt>gAt	p.A303D	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.A303D	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	303						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.A303D(10)		haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CAGGGCGCCAGCTCCTTGCTG	0.438																																						dbGAP											10	Substitution - Missense(10)	prostate(8)|liver(2)											8.0	8.0	8.0					5																	833915		2154	4191	6345	-	-	-	SO:0001583	missense	0			AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000283441.8:c.908C>A	5.37:g.833915G>T	ENSP00000283441:p.Ala303Asp		Q6UWR9	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.A303D	ENST00000283441.8	37	c.908	CCDS3857.1	5	515	0.2358058608058608	134	0.27235772357723576	83	0.2292817679558011	145	0.2534965034965035	153	0.20184696569920843	t	0.056	-1.237364	0.01493	.	.	ENSG00000188818	ENST00000424784;ENST00000283441	T;T	0.32023	1.47;1.47	1.32	-2.64	0.06114	.	159.412000	0.01375	U	0.012736	T	0.00012	0.0000	N	0.08118	0	0.58432	P	1.0000000000287557E-6	B	0.02656	0.0	B	0.01281	0.0	T	0.24333	-1.0163	9	0.30854	T	0.27	.	0.5085	0.00591	0.2028:0.3259:0.2042:0.267	rs605088;rs4045358;rs59272565	303	Q9H8X9	ZDH11_HUMAN	D	303	ENSP00000397719:A303D;ENSP00000283441:A303D	ENSP00000283441:A303D	A	-	2	0	ZDHHC11	886915	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-2.877000	0.00717	-2.317000	0.00644	-1.448000	0.01049	GCT	ZDHHC11	-	NULL	ENSG00000188818		0.438	ZDHHC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11	HGNC	protein_coding	OTTHUMT00000206681.3	24	0.00	0	G	NM_024786		833915	833915	-1	no_errors	ENST00000283441	ensembl	human	known	69_37n	missense	56	15.15	10	SNP	0.000	T
ZNF385A	25946	genome.wustl.edu	37	12	54778307	54778307	+	Missense_Mutation	SNP	G	G	C	rs201301697		TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr12:54778307G>C	ENST00000338010.5	-	2	105	c.52C>G	c.(52-54)Ccc>Gcc	p.P18A	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000546970.1_5'UTR|ZNF385A_ENST00000551109.1_5'UTR|ZNF385A_ENST00000394313.2_5'UTR|ZNF385A_ENST00000352268.6_Missense_Mutation_p.P18A|ZNF385A_ENST00000551771.1_5'UTR	NM_001130967.1	NP_001124439.1	Q96PM9	Z385A_HUMAN	zinc finger protein 385A	18					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|hemostasis (GO:0007599)|learning or memory (GO:0007611)|locomotory behavior (GO:0007626)|megakaryocyte development (GO:0035855)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|platelet alpha granule organization (GO:0070889)|platelet formation (GO:0030220)|positive regulation of DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:1902164)|positive regulation of fat cell differentiation (GO:0045600)|regulation of cytoplasmic translation (GO:2000765)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA 3'-UTR binding (GO:0003730)|p53 binding (GO:0002039)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						ATGATCGGGGGCTGCCGTAGC	0.617																																						dbGAP											0													27.0	26.0	26.0					12																	54778307		2195	4295	6490	-	-	-	SO:0001583	missense	0			AF304052	CCDS8879.1, CCDS44910.1, CCDS44911.1	12q13.13	2012-10-05	2007-12-06	2007-12-06		ENSG00000161642			17521	protein-coding gene	gene with protein product		609124	"""zinc finger protein 385"""	ZNF385			Standard	XM_005268785		Approved	DKFZp586G1122, Hzf, ZFP385	uc001sfy.3	Q96PM9	OTTHUMG00000169840	ENST00000338010.5:c.52C>G	12.37:g.54778307G>C	ENSP00000338927:p.Pro18Ala		B2RDN5|B4DKH2|F1T0F1|J3KNS3|Q5VH53|Q9H7R6|Q9UFU3	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like	p.P18A	ENST00000338010.5	37	c.52	CCDS44911.1	12	.	.	.	.	.	.	.	.	.	.	G	8.023	0.759999	0.15846	.	.	ENSG00000161642	ENST00000352268;ENST00000338010;ENST00000549962	T;T;T	0.52526	0.66;1.36;0.75	4.3	2.39	0.29439	.	.	.	.	.	T	0.38453	0.1041	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.09773	-1.0659	6	0.22706	T	0.39	.	4.7078	0.12858	0.1142:0.0:0.6684:0.2174	.	.	.	.	A	18	ENSP00000293385:P18A;ENSP00000338927:P18A;ENSP00000450149:P18A	ENSP00000338927:P18A	P	-	1	0	ZNF385A	53064574	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.744000	0.38268	0.918000	0.36919	0.491000	0.48974	CCC	ZNF385A	-	NULL	ENSG00000161642		0.617	ZNF385A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF385A	HGNC	protein_coding	OTTHUMT00000406162.1	124	0.80	1	G	NM_015481		54778307	54778307	-1	no_errors	ENST00000338010	ensembl	human	known	69_37n	missense	77	22.22	22	SNP	1.000	C
ZNF565	147929	genome.wustl.edu	37	19	36674067	36674067	+	Silent	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chr19:36674067A>G	ENST00000355114.5	-	5	1647	c.921T>C	c.(919-921)atT>atC	p.I307I	ZNF565_ENST00000304116.5_Silent_p.I267I|ZNF565_ENST00000392173.2_Silent_p.I267I			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	307					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTTGATGCAGAATCAGCTGTG	0.443																																						dbGAP											0													88.0	82.0	84.0					19																	36674067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.921T>C	19.37:g.36674067A>G			B3KQ35|Q6NUS2	Silent	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.I267	ENST00000355114.5	37	c.801		19																																																																																			ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.443	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	96	0.00	0	A	NM_152477		36674067	36674067	-1	no_errors	ENST00000304116	ensembl	human	known	69_37n	silent	881	13.69	140	SNP	0.003	G
ZNF565	147929	genome.wustl.edu	37	19	36674067	36674067	+	Silent	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chr19:36674067A>G	ENST00000355114.5	-	5	1647	c.921T>C	c.(919-921)atT>atC	p.I307I	ZNF565_ENST00000304116.5_Silent_p.I267I|ZNF565_ENST00000392173.2_Silent_p.I267I			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	307					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTTGATGCAGAATCAGCTGTG	0.443																																						dbGAP											0													88.0	82.0	84.0					19																	36674067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.921T>C	19.37:g.36674067A>G			B3KQ35|Q6NUS2	Silent	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.I267	ENST00000355114.5	37	c.801		19																																																																																			ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.443	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	43	0.00	0	A	NM_152477		36674067	36674067	-1	no_errors	ENST00000304116	ensembl	human	known	69_37n	silent	151	12.72	22	SNP	0.003	G
ZNF565	147929	genome.wustl.edu	37	19	36674067	36674067	+	Silent	SNP	A	A	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chr19:36674067A>G	ENST00000355114.5	-	5	1647	c.921T>C	c.(919-921)atT>atC	p.I307I	ZNF565_ENST00000304116.5_Silent_p.I267I|ZNF565_ENST00000392173.2_Silent_p.I267I			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	307					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)			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTTGATGCAGAATCAGCTGTG	0.443																																						dbGAP											0													88.0	82.0	84.0					19																	36674067		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK094310	CCDS12491.1	19q13.12	2013-09-20			ENSG00000196357	ENSG00000196357		"""Zinc fingers, C2H2-type"", ""-"""	26726	protein-coding gene	gene with protein product		614275					Standard	NM_001042474		Approved	FLJ36991	uc002odn.3	Q8N9K5	OTTHUMG00000180508	ENST00000355114.5:c.921T>C	19.37:g.36674067A>G			B3KQ35|Q6NUS2	Silent	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.I267	ENST00000355114.5	37	c.801		19																																																																																			ZNF565	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196357		0.443	ZNF565-003	PUTATIVE	basic	protein_coding	ZNF565	HGNC	protein_coding	OTTHUMT00000451697.1	77	0.00	0	A	NM_152477		36674067	36674067	-1	no_errors	ENST00000304116	ensembl	human	known	69_37n	silent	881	13.69	140	SNP	0.003	G
ZNF711	7552	genome.wustl.edu	37	X	84510277	84510277	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-11A-61D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	7b565538-7488-4654-9034-8a0e6fe65bf1	g.chrX:84510277C>G	ENST00000373165.3	+	4	398	c.92C>G	c.(91-93)gCt>gGt	p.A31G	ZNF711_ENST00000395402.1_Missense_Mutation_p.A9G|ZNF711_ENST00000360700.4_Missense_Mutation_p.A31G|ZNF711_ENST00000276123.3_Missense_Mutation_p.A31G|ZNF711_ENST00000542798.1_5'Flank	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	31					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCTGGAATGGCTGGTACTGCA	0.308																																						dbGAP											0													95.0	77.0	83.0					X																	84510277		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.92C>G	X.37:g.84510277C>G	ENSP00000362260:p.Ala31Gly		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A9G	ENST00000373165.3	37	c.26	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183474	0.38609	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.09350	3.06;2.99;2.99;3.08	4.94	4.94	0.65067	.	0.158082	0.29066	N	0.013249	T	0.11324	0.0276	L	0.33485	1.01	0.80722	D	1	B;B	0.29627	0.252;0.0	B;B	0.27715	0.082;0.001	T	0.07309	-1.0779	10	0.72032	D	0.01	-5.4526	17.3849	0.87413	0.0:1.0:0.0:0.0	.	31;31	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	G	9;31;31;31	ENSP00000378798:A9G;ENSP00000362260:A31G;ENSP00000276123:A31G;ENSP00000353922:A31G	ENSP00000276123:A31G	A	+	2	0	ZNF711	84396933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	2.029000	0.59856	0.550000	0.68814	GCT	ZNF711	-	NULL	ENSG00000147180		0.308	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	186	0.53	1	C	NM_021998		84510277	84510277	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	missense	70	33.33	35	SNP	1.000	G
ZNF711	7552	genome.wustl.edu	37	X	84510277	84510277	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:84510277C>G	ENST00000373165.3	+	4	398	c.92C>G	c.(91-93)gCt>gGt	p.A31G	ZNF711_ENST00000395402.1_Missense_Mutation_p.A9G|ZNF711_ENST00000360700.4_Missense_Mutation_p.A31G|ZNF711_ENST00000276123.3_Missense_Mutation_p.A31G|ZNF711_ENST00000542798.1_5'Flank	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	31					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GCTGGAATGGCTGGTACTGCA	0.308																																						dbGAP											0													95.0	77.0	83.0					X																	84510277		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.92C>G	X.37:g.84510277C>G	ENSP00000362260:p.Ala31Gly		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A9G	ENST00000373165.3	37	c.26	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	C	13.26	2.183474	0.38609	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700	T;T;T;T	0.09350	3.06;2.99;2.99;3.08	4.94	4.94	0.65067	.	0.158082	0.29066	N	0.013249	T	0.11324	0.0276	L	0.33485	1.01	0.80722	D	1	B;B	0.29627	0.252;0.0	B;B	0.27715	0.082;0.001	T	0.07309	-1.0779	10	0.72032	D	0.01	-5.4526	17.3849	0.87413	0.0:1.0:0.0:0.0	.	31;31	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	G	9;31;31;31	ENSP00000378798:A9G;ENSP00000362260:A31G;ENSP00000276123:A31G;ENSP00000353922:A31G	ENSP00000276123:A31G	A	+	2	0	ZNF711	84396933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.915000	0.69973	2.029000	0.59856	0.550000	0.68814	GCT	ZNF711	-	NULL	ENSG00000147180		0.308	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	208	0.48	1	C	NM_021998		84510277	84510277	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	missense	70	33.33	35	SNP	1.000	G
ZNF711	7552	genome.wustl.edu	37	X	84525889	84525890	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A7-A13E-01A-11D-A272-09	TCGA-A7-A13E-10A-02D-A272-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6744be0d-06f5-48a8-b0b6-8cd72bba0aea	9bd41c60-2384-4ea1-99a2-cc4a8ebf19cc	g.chrX:84525889_84525890insT	ENST00000373165.3	+	9	1647_1648	c.1341_1342insT	c.(1342-1344)tttfs	p.F448fs	ZNF711_ENST00000395402.1_Frame_Shift_Ins_p.F456fs|ZNF711_ENST00000360700.4_Frame_Shift_Ins_p.F494fs|ZNF711_ENST00000276123.3_Frame_Shift_Ins_p.F448fs|ZNF711_ENST00000542798.1_Frame_Shift_Ins_p.F290fs	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	448					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						AAACCCATGAATTTACAGAATA	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.1344dupT	X.37:g.84525892_84525892dupT	ENSP00000362260:p.Phe448fs		B4DSV4|Q6NX42|Q9Y4J6	Frame_Shift_Ins	INS	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T456fs	ENST00000373165.3	37	c.1365_1366	CCDS35344.1	X																																																																																			ZNF711	-	NULL	ENSG00000147180		0.376	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	57	0.00	0	-	NM_021998		84525889	84525890	+1	no_errors	ENST00000395402	ensembl	human	known	69_37n	frame_shift_ins	12	14.29	2	INS	1.000:1.000	T
ZNF81	347344	genome.wustl.edu	37	X	47774984	47774984	+	Silent	SNP	G	G	A			TCGA-A7-A13E-01A-11D-A12Q-09	TCGA-A7-A13E-10A-01D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a2710231-62a5-483f-9154-8036ed0ccd6c	23fbfc21-e16b-457d-950c-ec7e2d0b73a6	g.chrX:47774984G>A	ENST00000376954.1	+	6	1307	c.939G>A	c.(937-939)caG>caA	p.Q313Q	ZNF81_ENST00000338637.7_Silent_p.Q313Q			P51508	ZNF81_HUMAN	zinc finger protein 81	313					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)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTTTTACACAGAAGCCACTAC	0.358																																						dbGAP											0													30.0	28.0	28.0					X																	47774984		1837	4089	5926	-	-	-	SO:0001819	synonymous_variant	0			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.939G>A	X.37:g.47774984G>A			Q6RX22|Q96QH6	Silent	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.Q313	ENST00000376954.1	37	c.939	CCDS43933.1	X																																																																																			ZNF81	-	NULL	ENSG00000197779		0.358	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	43	0.00	0	G	NM_007137		47774984	47774984	+1	no_errors	ENST00000338637	ensembl	human	known	69_37n	silent	20	47.37	18	SNP	0.951	A
