#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
ABCA4	24	genome.wustl.edu	37	1	94522223	94522223	+	Silent	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:94522223G>A	ENST00000370225.3	-	15	2402	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	772					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGCAGGTAGAGGGTGAAAT	0.577																																						dbGAP											0													81.0	70.0	74.0					1																	94522223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2316C>T	1.37:g.94522223G>A			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.L772	ENST00000370225.3	37	c.2316	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.577	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	32	0.00	0	G	NM_000350		94522223	94522223	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	silent	29	27.91	12	SNP	1.000	A
ABCA4	24	genome.wustl.edu	37	1	94522223	94522223	+	Silent	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:94522223G>A	ENST00000370225.3	-	15	2402	c.2316C>T	c.(2314-2316)ctC>ctT	p.L772L	ABCA4_ENST00000535735.1_Intron	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	772					phospholipid transfer to membrane (GO:0006649)|photoreceptor cell maintenance (GO:0045494)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transmembrane transport (GO:0055085)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|phospholipid-translocating ATPase activity (GO:0004012)|transporter activity (GO:0005215)			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGCAGGTAGAGGGTGAAAT	0.577																																						dbGAP											0													81.0	70.0	74.0					1																	94522223		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U88667	CCDS747.1	1p22	2013-01-23			ENSG00000198691	ENSG00000198691		"""ATP binding cassette transporters / subfamily A"""	34	protein-coding gene	gene with protein product	"""Stargardt disease"""	601691	"""ATP-binding cassette transporter, retinal-specific"""	STGD1, ABCR, RP19, STGD		9490294	Standard	NM_000350		Approved	FFM, ARMD2, CORD3	uc001dqh.3	P78363	OTTHUMG00000010622	ENST00000370225.3:c.2316C>T	1.37:g.94522223G>A			O15112|O60438|O60915|Q0QD48|Q4LE31	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt	p.L772	ENST00000370225.3	37	c.2316	CCDS747.1	1																																																																																			ABCA4	-	tigrfam_Rim_ABC_transpt	ENSG00000198691		0.577	ABCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA4	HGNC	protein_coding	OTTHUMT00000029320.1	32	0.00	0	G	NM_000350		94522223	94522223	-1	no_errors	ENST00000370225	ensembl	human	known	69_37n	silent	40	21.57	11	SNP	1.000	A
ABCC4	10257	genome.wustl.edu	37	13	95830023	95830023	+	Silent	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr13:95830023G>A	ENST00000376887.4	-	13	1779	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	ABCC4_ENST00000412704.1_Silent_p.I555I|ABCC4_ENST00000536256.1_Silent_p.I480I|ABCC4_ENST00000431522.1_Silent_p.I555I|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	555	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CCAGGAGATAGATGTCAGCAT	0.423																																						dbGAP											0													138.0	118.0	125.0					13																	95830023		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1665C>T	13.37:g.95830023G>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.I555	ENST00000376887.4	37	c.1665	CCDS9474.1	13																																																																																			ABCC4	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	40	0.00	0	G	NM_005845		95830023	95830023	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	silent	21	37.14	13	SNP	1.000	A
ABCC4	10257	genome.wustl.edu	37	13	95830023	95830023	+	Silent	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr13:95830023G>A	ENST00000376887.4	-	13	1779	c.1665C>T	c.(1663-1665)atC>atT	p.I555I	ABCC4_ENST00000412704.1_Silent_p.I555I|ABCC4_ENST00000536256.1_Silent_p.I480I|ABCC4_ENST00000431522.1_Silent_p.I555I|ABCC4_ENST00000538287.1_3'UTR	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	555	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	CCAGGAGATAGATGTCAGCAT	0.423																																						dbGAP											0													138.0	118.0	125.0					13																	95830023		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.1665C>T	13.37:g.95830023G>A			A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM	p.I555	ENST00000376887.4	37	c.1665	CCDS9474.1	13																																																																																			ABCC4	-	pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like	ENSG00000125257		0.423	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC4	HGNC	protein_coding	OTTHUMT00000045478.2	40	0.00	0	G	NM_005845		95830023	95830023	-1	no_errors	ENST00000376887	ensembl	human	known	69_37n	silent	52	35.00	28	SNP	1.000	A
ACTN3	89	genome.wustl.edu	37	11	66319055	66319055	+	RNA	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr11:66319055G>A	ENST00000502692.1	+	0	564				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AATCGCCAACGTTAACAAGGC	0.557																																						dbGAP											0													73.0	76.0	75.0					11																	66319055		2163	4286	6449	-	-	-			0			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66319055G>A			A6NP77|Q4KKV2	Missense_Mutation	SNP	NULL	p.V150I	ENST00000502692.1	37	c.448		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.557	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	ACTN3	HGNC	polymorphic_pseudogene	OTTHUMT00000362465.1	43	0.00	0	G	NM_001104		66319055	66319055	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	1.000	A
ACTN3	89	genome.wustl.edu	37	11	66319055	66319055	+	RNA	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr11:66319055G>A	ENST00000502692.1	+	0	564				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly (GO:0048041)|muscle filament sliding (GO:0030049)|regulation of apoptotic process (GO:0042981)	actin filament (GO:0005884)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						AATCGCCAACGTTAACAAGGC	0.557																																						dbGAP											0													73.0	76.0	75.0					11																	66319055		2163	4286	6449	-	-	-			0			M86407		11q13.2	2013-10-02	2012-10-05		ENSG00000248746	ENSG00000248746			165	protein-coding gene	gene with protein product		102574	"""actinin, alpha 3"""			1339456	Standard	NM_001104		Approved		uc031qbp.1	Q08043	OTTHUMG00000160815		11.37:g.66319055G>A			A6NP77|Q4KKV2	Missense_Mutation	SNP	NULL	p.V150I	ENST00000502692.1	37	c.448		11																																																																																			ACTN3	-	NULL	ENSG00000248746		0.557	ACTN3-003	KNOWN	basic	polymorphic_pseudogene	ACTN3	HGNC	polymorphic_pseudogene	OTTHUMT00000362465.1	43	0.00	0	G	NM_001104		66319055	66319055	+1	pseudogene	ENST00000502692	ensembl	human	known	69_37n	missense	65	23.53	20	SNP	1.000	A
ALOX15	246	genome.wustl.edu	37	17	4540413	4540413	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:4540413G>C	ENST00000570836.1	-	8	1044	c.948C>G	c.(946-948)atC>atG	p.I316M	ALOX15_ENST00000293761.3_Missense_Mutation_p.I316M|ALOX15_ENST00000574640.1_Missense_Mutation_p.I277M|ALOX15_ENST00000545513.1_Missense_Mutation_p.I338M			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	316	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CTCTCACCTGGATGACCATGG	0.522																																						dbGAP											0													75.0	77.0	76.0					17																	4540413		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.948C>G	17.37:g.4540413G>C	ENSP00000458832:p.Ile316Met		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.I338M	ENST00000570836.1	37	c.1014	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058179	0.55325	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.19806	2.12;2.12	4.02	4.02	0.46733	Lipoxygenase, C-terminal (3);	0.129959	0.48286	D	0.000195	T	0.56848	0.2013	H	0.95950	3.745	0.41463	D	0.988054	D;D;D	0.65815	0.995;0.991;0.99	D;D;D	0.64877	0.927;0.926;0.93	T	0.73335	-0.4015	10	0.87932	D	0	-31.8363	14.0028	0.64444	0.0:0.0:1.0:0.0	.	338;277;316	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	M	316;338	ENSP00000293761:I316M;ENSP00000439855:I338M	ENSP00000293761:I316M	I	-	3	3	ALOX15	4487162	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.355000	0.20163	1.959000	0.56917	0.561000	0.74099	ATC	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000161905		0.522	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2	29	0.00	0	G			4540413	4540413	-1	no_errors	ENST00000545513	ensembl	human	known	69_37n	missense	34	40.35	23	SNP	1.000	C
ALOX15	246	genome.wustl.edu	37	17	4540413	4540413	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:4540413G>C	ENST00000570836.1	-	8	1044	c.948C>G	c.(946-948)atC>atG	p.I316M	ALOX15_ENST00000293761.3_Missense_Mutation_p.I316M|ALOX15_ENST00000574640.1_Missense_Mutation_p.I277M|ALOX15_ENST00000545513.1_Missense_Mutation_p.I338M			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	316	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic cell clearance (GO:0043277)|arachidonic acid metabolic process (GO:0019369)|bone mineralization (GO:0030282)|cellular response to calcium ion (GO:0071277)|cellular response to interleukin-13 (GO:0035963)|hepoxilin biosynthetic process (GO:0051122)|inflammatory response (GO:0006954)|leukotriene metabolic process (GO:0006691)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxygenase pathway (GO:0019372)|negative regulation of adaptive immune response (GO:0002820)|ossification (GO:0001503)|phosphatidylethanolamine biosynthetic process (GO:0006646)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|regulation of engulfment of apoptotic cell (GO:1901074)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	arachidonate 12-lipoxygenase activity (GO:0004052)|arachidonate 15-lipoxygenase activity (GO:0050473)|eoxin A4 synthase activity (GO:0097260)|iron ion binding (GO:0005506)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)		CTCTCACCTGGATGACCATGG	0.522																																						dbGAP											0													75.0	77.0	76.0					17																	4540413		2203	4300	6503	-	-	-	SO:0001583	missense	0			M23892	CCDS11049.1	17p13.3	2010-09-24			ENSG00000161905	ENSG00000161905	1.13.11.33	"""Arachidonate lipoxygenases"""	433	protein-coding gene	gene with protein product		152392				1570320	Standard	NM_001140		Approved	15-LOX-1	uc002fyh.3	P16050	OTTHUMG00000090746	ENST00000570836.1:c.948C>G	17.37:g.4540413G>C	ENSP00000458832:p.Ile316Met		A8K2P4|B7ZA11|Q8N6R7|Q99657	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2	p.I338M	ENST00000570836.1	37	c.1014	CCDS11049.1	17	.	.	.	.	.	.	.	.	.	.	G	16.21	3.058179	0.55325	.	.	ENSG00000161905	ENST00000293761;ENST00000545513	T;T	0.19806	2.12;2.12	4.02	4.02	0.46733	Lipoxygenase, C-terminal (3);	0.129959	0.48286	D	0.000195	T	0.56848	0.2013	H	0.95950	3.745	0.41463	D	0.988054	D;D;D	0.65815	0.995;0.991;0.99	D;D;D	0.64877	0.927;0.926;0.93	T	0.73335	-0.4015	10	0.87932	D	0	-31.8363	14.0028	0.64444	0.0:0.0:1.0:0.0	.	338;277;316	F5H0G8;B7ZA11;P16050	.;.;LOX15_HUMAN	M	316;338	ENSP00000293761:I316M;ENSP00000439855:I338M	ENSP00000293761:I316M	I	-	3	3	ALOX15	4487162	0.999000	0.42202	1.000000	0.80357	0.976000	0.68499	0.355000	0.20163	1.959000	0.56917	0.561000	0.74099	ATC	ALOX15	-	pfam_LipOase_C,superfamily_LipOase_C	ENSG00000161905		0.522	ALOX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15	HGNC	protein_coding	OTTHUMT00000207487.2	29	0.00	0	G			4540413	4540413	-1	no_errors	ENST00000545513	ensembl	human	known	69_37n	missense	20	44.44	16	SNP	1.000	C
ANKRD30BL	554226	genome.wustl.edu	37	2	133015299	133015299	+	5'UTR	SNP	C	C	T	rs79554046	byFrequency	TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:133015299C>T	ENST00000470729.1	-	0	243				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						CCCGCAGAGGCGCTCAGGGAC	0.677																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1182G>A	2.37:g.133015299C>T			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.677	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	22	0.00	0	C	NR_027019		133015299	133015299	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	5	58.33	7	SNP	0.007	T
AQP12A	375318	genome.wustl.edu	37	2	241631392	241631392	+	Missense_Mutation	SNP	C	C	T	rs145322760		TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:241631392C>T	ENST00000337801.4	+	1	131	c.62C>T	c.(61-63)gCc>gTc	p.A21V	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.A21V	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	21						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGTGAGGCGGCCAGGCGGGCC	0.687																																						dbGAP											0													54.0	62.0	59.0					2																	241631392		2169	4287	6456	-	-	-	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.62C>T	2.37:g.241631392C>T	ENSP00000337144:p.Ala21Val			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.A21V	ENST00000337801.4	37	c.62		2	.	.	.	.	.	.	.	.	.	.	.	2.941	-0.218926	0.06101	.	.	ENSG00000184945	ENST00000337801;ENST00000429564	T;T	0.11169	2.8;2.8	2.43	1.51	0.23008	.	0.308220	0.31734	N	0.007154	T	0.06188	0.0160	L	0.38531	1.155	0.27339	N	0.956567	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.12430	T	0.62	3.9918	3.8583	0.08985	0.0:0.6563:0.0:0.3437	.	21	Q8IXF9	AQ12A_HUMAN	V	21	ENSP00000337144:A21V;ENSP00000405899:A21V	ENSP00000337144:A21V	A	+	2	0	AQP12A	241280065	0.749000	0.28305	0.846000	0.33378	0.264000	0.26372	1.056000	0.30480	1.382000	0.46385	0.186000	0.17326	GCC	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.687	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	41	0.00	0	C	NM_198998		241631392	241631392	+1	no_errors	ENST00000429564	ensembl	human	known	69_37n	missense	21	30.00	9	SNP	0.812	T
AQP12A	375318	genome.wustl.edu	37	2	241631392	241631392	+	Missense_Mutation	SNP	C	C	T	rs145322760		TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:241631392C>T	ENST00000337801.4	+	1	131	c.62C>T	c.(61-63)gCc>gTc	p.A21V	AC011298.2_ENST00000407635.2_lincRNA|AQP12A_ENST00000429564.1_Missense_Mutation_p.A21V	NM_198998.2	NP_945349.1	Q8IXF9	AQ12A_HUMAN	aquaporin 12A	21						integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGTGAGGCGGCCAGGCGGGCC	0.687																																						dbGAP											0													54.0	62.0	59.0					2																	241631392		2169	4287	6456	-	-	-	SO:0001583	missense	0			AB040748		2q37.3	2013-06-03	2005-05-26	2005-05-26	ENSG00000184945	ENSG00000184945		"""Ion channels / Aquaporins"""	19941	protein-coding gene	gene with protein product		609789	"""aquaporin 12"""	AQP12			Standard	NM_198998		Approved		uc002vzu.3	Q8IXF9	OTTHUMG00000183906	ENST00000337801.4:c.62C>T	2.37:g.241631392C>T	ENSP00000337144:p.Ala21Val			Missense_Mutation	SNP	pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP	p.A21V	ENST00000337801.4	37	c.62		2	.	.	.	.	.	.	.	.	.	.	.	2.941	-0.218926	0.06101	.	.	ENSG00000184945	ENST00000337801;ENST00000429564	T;T	0.11169	2.8;2.8	2.43	1.51	0.23008	.	0.308220	0.31734	N	0.007154	T	0.06188	0.0160	L	0.38531	1.155	0.27339	N	0.956567	B	0.02656	0.0	B	0.04013	0.001	T	0.33394	-0.9870	10	0.12430	T	0.62	3.9918	3.8583	0.08985	0.0:0.6563:0.0:0.3437	.	21	Q8IXF9	AQ12A_HUMAN	V	21	ENSP00000337144:A21V;ENSP00000405899:A21V	ENSP00000337144:A21V	A	+	2	0	AQP12A	241280065	0.749000	0.28305	0.846000	0.33378	0.264000	0.26372	1.056000	0.30480	1.382000	0.46385	0.186000	0.17326	GCC	AQP12A	-	pirsf_Aquaporin_11/12,prints_Aquaporin_12	ENSG00000184945		0.687	AQP12A-001	KNOWN	basic|appris_principal	protein_coding	AQP12A	HGNC	protein_coding	OTTHUMT00000257185.2	41	0.00	0	C	NM_198998		241631392	241631392	+1	no_errors	ENST00000429564	ensembl	human	known	69_37n	missense	25	44.44	20	SNP	0.812	T
ASH1L	55870	genome.wustl.edu	37	1	155448988	155448988	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:155448988G>A	ENST00000368346.3	-	3	4312	c.3673C>T	c.(3673-3675)Cat>Tat	p.H1225Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1225Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1225					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAAAAGAATGCCTCCTCTTT	0.403																																						dbGAP											0													164.0	170.0	168.0					1																	155448988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3673C>T	1.37:g.155448988G>A	ENSP00000357330:p.His1225Tyr		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.H1225Y	ENST00000368346.3	37	c.3673		1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018689	0.19355	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91011	-2.77;-2.77	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	N	0.01874	-0.695	0.80722	D	1	P;P	0.52316	0.92;0.952	B;P	0.47470	0.346;0.548	T	0.78401	-0.2218	10	0.13108	T	0.6	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	1225;1225	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	1225	ENSP00000357330:H1225Y;ENSP00000376204:H1225Y	ENSP00000357330:H1225Y	H	-	1	0	ASH1L	153715612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.814000	0.69208	2.700000	0.92200	0.585000	0.79938	CAT	ASH1L	-	NULL	ENSG00000116539		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	60	0.00	0	G	NM_018489		155448988	155448988	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	22	31.25	10	SNP	1.000	A
ASH1L	55870	genome.wustl.edu	37	1	155448988	155448988	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:155448988G>A	ENST00000368346.3	-	3	4312	c.3673C>T	c.(3673-3675)Cat>Tat	p.H1225Y	ASH1L_ENST00000392403.3_Missense_Mutation_p.H1225Y			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1225					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAAAAGAATGCCTCCTCTTT	0.403																																						dbGAP											0													164.0	170.0	168.0					1																	155448988		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.3673C>T	1.37:g.155448988G>A	ENSP00000357330:p.His1225Tyr		Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain	p.H1225Y	ENST00000368346.3	37	c.3673		1	.	.	.	.	.	.	.	.	.	.	G	9.161	1.018689	0.19355	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.91011	-2.77;-2.77	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.73353	0.3576	N	0.01874	-0.695	0.80722	D	1	P;P	0.52316	0.92;0.952	B;P	0.47470	0.346;0.548	T	0.78401	-0.2218	10	0.13108	T	0.6	.	18.4995	0.90876	0.0:0.0:1.0:0.0	.	1225;1225	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	Y	1225	ENSP00000357330:H1225Y;ENSP00000376204:H1225Y	ENSP00000357330:H1225Y	H	-	1	0	ASH1L	153715612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.814000	0.69208	2.700000	0.92200	0.585000	0.79938	CAT	ASH1L	-	NULL	ENSG00000116539		0.403	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L	HGNC	protein_coding	OTTHUMT00000039400.1	60	0.00	0	G	NM_018489		155448988	155448988	-1	no_errors	ENST00000368346	ensembl	human	known	69_37n	missense	73	30.48	32	SNP	1.000	A
ATG14	22863	genome.wustl.edu	37	14	55844770	55844770	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr14:55844770delT	ENST00000247178.5	-	8	1053	c.1018delA	c.(1018-1020)agcfs	p.S340fs		NM_014924.4	NP_055739.2	Q6ZNE5	BAKOR_HUMAN	autophagy related 14	340					autophagic vacuole assembly (GO:0000045)|endosome to lysosome transport (GO:0008333)|positive regulation of autophagy (GO:0010508)	autophagic vacuole (GO:0005776)|axoneme (GO:0005930)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|pre-autophagosomal structure membrane (GO:0034045)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(2)	13						TTCTGCTTGCTTAGATTTTCG	0.284																																						dbGAP											0													68.0	71.0	70.0					14																	55844770		2201	4298	6499	-	-	-	SO:0001589	frameshift_variant	0			AB020638	CCDS32087.1	14q22.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000126775	ENSG00000126775			19962	protein-coding gene	gene with protein product	"""Barkor"", ""beclin 1-associated autophagy-related key regulator"""	613515	"""KIAA0831"", ""ATG14 autophagy related 14 homolog (S. cerevisiae)"""	KIAA0831		18843052	Standard	NM_014924		Approved	ATG14L	uc001xbx.2	Q6ZNE5	OTTHUMG00000172129	ENST00000247178.5:c.1018delA	14.37:g.55844770delT	ENSP00000247178:p.Ser340fs		A6NJE4|A8K9U5|B7ZWP5|O94920|Q32MK7|Q32MK8	Frame_Shift_Del	DEL	pfam_UV_resistance/autophagy_Atg14	p.S340fs	ENST00000247178.5	37	c.1018	CCDS32087.1	14																																																																																			ATG14	-	pfam_UV_resistance/autophagy_Atg14	ENSG00000126775		0.284	ATG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG14	HGNC	protein_coding	OTTHUMT00000416992.1	68	0.00	0	T	NM_014924		55844770	55844770	-1	no_errors	ENST00000247178	ensembl	human	known	69_37n	frame_shift_del	15	11.76	2	DEL	1.000	-
CACYBP	27101	genome.wustl.edu	37	1	174977786	174977786	+	Silent	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:174977786G>A	ENST00000367679.2	+	5	922	c.474G>A	c.(472-474)gtG>gtA	p.V158V	CACYBP_ENST00000405362.1_Silent_p.V115V|CACYBP_ENST00000367681.2_Silent_p.V115V|MRPS14_ENST00000498253.1_5'Flank	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	158	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GAAAGAAAGTGGAAAACACAA	0.348																																						dbGAP											0													97.0	95.0	96.0					1																	174977786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.474G>A	1.37:g.174977786G>A			B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	pfam_Siah-Interact_N,pfam_CS_domain,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS	p.V158	ENST00000367679.2	37	c.474	CCDS1315.1	1																																																																																			CACYBP	-	superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS	ENSG00000116161		0.348	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3	54	0.00	0	G	NM_014412		174977786	174977786	+1	no_errors	ENST00000367679	ensembl	human	known	69_37n	silent	67	15.19	12	SNP	0.001	A
CACYBP	27101	genome.wustl.edu	37	1	174977786	174977786	+	Silent	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:174977786G>A	ENST00000367679.2	+	5	922	c.474G>A	c.(472-474)gtG>gtA	p.V158V	CACYBP_ENST00000405362.1_Silent_p.V115V|CACYBP_ENST00000367681.2_Silent_p.V115V|MRPS14_ENST00000498253.1_5'Flank	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	158	CS. {ECO:0000255|PROSITE- ProRule:PRU00547}.|Interaction with S100A6. {ECO:0000250}.|Interaction with SKP1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						GAAAGAAAGTGGAAAACACAA	0.348																																						dbGAP											0													97.0	95.0	96.0					1																	174977786		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.474G>A	1.37:g.174977786G>A			B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	pfam_Siah-Interact_N,pfam_CS_domain,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS	p.V158	ENST00000367679.2	37	c.474	CCDS1315.1	1																																																																																			CACYBP	-	superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS	ENSG00000116161		0.348	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3	54	0.00	0	G	NM_014412		174977786	174977786	+1	no_errors	ENST00000367679	ensembl	human	known	69_37n	silent	59	38.54	37	SNP	0.001	A
ATP6V1G3	127124	genome.wustl.edu	37	1	198498240	198498240	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:198498240C>A	ENST00000367382.1	-	2	238	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.D52Y|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.D58Y|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.D58Y			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	52					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						AACTCTTTATCTCTCTGCATT	0.313																																						dbGAP											0													147.0	140.0	142.0					1																	198498240		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.154G>T	1.37:g.198498240C>A	ENSP00000356352:p.Asp52Tyr		Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	pfam_V-ATPase_G,tigrfam_V-ATPase_G	p.D58Y	ENST00000367382.1	37	c.172	CCDS1395.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941958	0.53079	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.19	5.19	0.71726	.	0.243882	0.47455	D	0.000240	T	0.67069	0.2854	M	0.70275	2.135	0.42046	D	0.991093	D;D	0.60575	0.988;0.983	P;P	0.62649	0.847;0.905	T	0.71210	-0.4660	10	0.87932	D	0	-7.0657	18.0681	0.89397	0.0:1.0:0.0:0.0	.	58;52	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	Y	52;58;52;58	ENSP00000356352:D52Y;ENSP00000356351:D58Y;ENSP00000281087:D52Y;ENSP00000417171:D58Y	ENSP00000281087:D52Y	D	-	1	0	ATP6V1G3	196764863	1.000000	0.71417	0.187000	0.23214	0.257000	0.26127	5.939000	0.70179	2.582000	0.87167	0.655000	0.94253	GAT	ATP6V1G3	-	pfam_V-ATPase_G,tigrfam_V-ATPase_G	ENSG00000151418		0.313	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G3	HGNC	protein_coding	OTTHUMT00000086559.1	67	0.00	0	C	NM_133326		198498240	198498240	-1	no_errors	ENST00000367381	ensembl	human	known	69_37n	missense	60	23.08	18	SNP	0.997	A
ATP6V1G3	127124	genome.wustl.edu	37	1	198498240	198498240	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:198498240C>A	ENST00000367382.1	-	2	238	c.154G>T	c.(154-156)Gat>Tat	p.D52Y	ATP6V1G3_ENST00000309309.7_3'UTR|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.D52Y|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.D58Y|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.D58Y			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	52					cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	ATPase binding (GO:0051117)|hydrogen-exporting ATPase activity, phosphorylative mechanism (GO:0008553)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						AACTCTTTATCTCTCTGCATT	0.313																																						dbGAP											0													147.0	140.0	142.0					1																	198498240		2202	4299	6501	-	-	-	SO:0001583	missense	0			AY039760	CCDS1395.1, CCDS1396.1	1q32.2	2010-04-21	2006-01-13		ENSG00000151418	ENSG00000151418		"""ATPases / V-type"""	18265	protein-coding gene	gene with protein product			"""ATPase, H+ transporting, lysosomal 13kD, V1 subunit G isoform 3"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 3"""			9442887	Standard	NM_133262		Approved	ATP6G3, Vma10	uc001gup.3	Q96LB4	OTTHUMG00000035661	ENST00000367382.1:c.154G>T	1.37:g.198498240C>A	ENSP00000356352:p.Asp52Tyr		Q495K2|Q495K4|Q5T9L6	Missense_Mutation	SNP	pfam_V-ATPase_G,tigrfam_V-ATPase_G	p.D58Y	ENST00000367382.1	37	c.172	CCDS1395.1	1	.	.	.	.	.	.	.	.	.	.	C	15.81	2.941958	0.53079	.	.	ENSG00000151418	ENST00000367382;ENST00000367381;ENST00000281087;ENST00000489986	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.19	5.19	0.71726	.	0.243882	0.47455	D	0.000240	T	0.67069	0.2854	M	0.70275	2.135	0.42046	D	0.991093	D;D	0.60575	0.988;0.983	P;P	0.62649	0.847;0.905	T	0.71210	-0.4660	10	0.87932	D	0	-7.0657	18.0681	0.89397	0.0:1.0:0.0:0.0	.	58;52	Q96LB4-4;Q96LB4	.;VATG3_HUMAN	Y	52;58;52;58	ENSP00000356352:D52Y;ENSP00000356351:D58Y;ENSP00000281087:D52Y;ENSP00000417171:D58Y	ENSP00000281087:D52Y	D	-	1	0	ATP6V1G3	196764863	1.000000	0.71417	0.187000	0.23214	0.257000	0.26127	5.939000	0.70179	2.582000	0.87167	0.655000	0.94253	GAT	ATP6V1G3	-	pfam_V-ATPase_G,tigrfam_V-ATPase_G	ENSG00000151418		0.313	ATP6V1G3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G3	HGNC	protein_coding	OTTHUMT00000086559.1	67	0.00	0	C	NM_133326		198498240	198498240	-1	no_errors	ENST00000367381	ensembl	human	known	69_37n	missense	77	31.25	35	SNP	0.997	A
CBLN2	147381	genome.wustl.edu	37	18	70209103	70209103	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr18:70209103G>A	ENST00000269503.4	-	3	1066	c.293C>T	c.(292-294)aCg>aTg	p.T98M	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.T98M|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	98	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GGTGCTCCGCGTGGCGGAGAA	0.701																																						dbGAP											0													39.0	33.0	35.0					18																	70209103		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.293C>T	18.37:g.70209103G>A	ENSP00000269503:p.Thr98Met		Q53Z56	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.T98M	ENST00000269503.4	37	c.293	CCDS11999.1	18	.	.	.	.	.	.	.	.	.	.	G	22.0	4.228489	0.79576	.	.	ENSG00000141668	ENST00000269503	T	0.75589	-0.95	4.43	3.53	0.40419	Tumour necrosis factor-like (2);Complement C1q protein (3);	0.169768	0.47455	D	0.000223	T	0.76399	0.3982	L	0.46157	1.445	0.80722	D	1	D	0.58620	0.983	P	0.57911	0.829	T	0.77183	-0.2681	10	0.56958	D	0.05	-15.6302	9.9344	0.41541	0.1667:0.0:0.8333:0.0	.	98	Q8IUK8	CBLN2_HUMAN	M	98	ENSP00000269503:T98M	ENSP00000269503:T98M	T	-	2	0	CBLN2	68360083	0.997000	0.39634	1.000000	0.80357	0.994000	0.84299	2.628000	0.46477	2.177000	0.69029	0.462000	0.41574	ACG	CBLN2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q	ENSG00000141668		0.701	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	HGNC	protein_coding	OTTHUMT00000256288.1	9	0.00	0	G	NM_182511		70209103	70209103	-1	no_errors	ENST00000269503	ensembl	human	known	69_37n	missense	53	25.35	18	SNP	1.000	A
CEP120	153241	genome.wustl.edu	37	5	122713082	122713082	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr5:122713082G>A	ENST00000306467.5	-	16	2648	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	CEP120_ENST00000306481.6_Missense_Mutation_p.R756C|CEP120_ENST00000328236.5_Missense_Mutation_p.R782C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	782					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R782S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGCTGAAGGCGGTGTTTATCC	0.378																																						dbGAP											1	Substitution - Missense(1)	lung(1)											224.0	208.0	213.0					5																	122713082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2344C>T	5.37:g.122713082G>A	ENSP00000303058:p.Arg782Cys		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R782C	ENST00000306467.5	37	c.2344	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984448	0.74474	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.82	3.95	0.45737	.	0.061358	0.64402	D	0.000004	T	0.43809	0.1264	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	P	0.59288	0.855	T	0.41270	-0.9518	10	0.87932	D	0	-2.419	8.0825	0.30752	0.0647:0.117:0.697:0.1213	.	782	Q8N960	CE120_HUMAN	C	782;782;756;756	ENSP00000303058:R782C;ENSP00000327504:R782C;ENSP00000307419:R756C;ENSP00000421620:R756C	ENSP00000303058:R782C	R	-	1	0	CEP120	122740981	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	4.865000	0.62998	1.453000	0.47775	0.655000	0.94253	CGC	CEP120	-	NULL	ENSG00000168944		0.378	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	69	0.00	0	G	NM_153223		122713082	122713082	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	missense	31	22.50	9	SNP	0.722	A
CEP120	153241	genome.wustl.edu	37	5	122713082	122713082	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr5:122713082G>A	ENST00000306467.5	-	16	2648	c.2344C>T	c.(2344-2346)Cgc>Tgc	p.R782C	CEP120_ENST00000306481.6_Missense_Mutation_p.R756C|CEP120_ENST00000328236.5_Missense_Mutation_p.R782C			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	782					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)|regulation of protein localization (GO:0032880)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.R782S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGCTGAAGGCGGTGTTTATCC	0.378																																						dbGAP											1	Substitution - Missense(1)	lung(1)											224.0	208.0	213.0					5																	122713082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK095646	CCDS4134.2, CCDS54890.1	5q23.2	2014-02-20	2008-08-14	2008-08-14	ENSG00000168944	ENSG00000168944			26690	protein-coding gene	gene with protein product		613446	"""coiled-coil domain containing 100"""	CCDC100		17920017	Standard	NM_153223		Approved	FLJ36090	uc003ktk.3	Q8N960	OTTHUMG00000128922	ENST00000306467.5:c.2344C>T	5.37:g.122713082G>A	ENSP00000303058:p.Arg782Cys		Q6AI52|Q6AW89|Q8IWB5|Q8N9Y0|Q8NDE8	Missense_Mutation	SNP	pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R782C	ENST00000306467.5	37	c.2344	CCDS4134.2	5	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984448	0.74474	.	.	ENSG00000168944	ENST00000306467;ENST00000328236;ENST00000306481;ENST00000508442	T;T;T;T	0.28666	1.6;1.6;1.6;1.6	5.82	3.95	0.45737	.	0.061358	0.64402	D	0.000004	T	0.43809	0.1264	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	P	0.59288	0.855	T	0.41270	-0.9518	10	0.87932	D	0	-2.419	8.0825	0.30752	0.0647:0.117:0.697:0.1213	.	782	Q8N960	CE120_HUMAN	C	782;782;756;756	ENSP00000303058:R782C;ENSP00000327504:R782C;ENSP00000307419:R756C;ENSP00000421620:R756C	ENSP00000303058:R782C	R	-	1	0	CEP120	122740981	1.000000	0.71417	0.994000	0.49952	0.952000	0.60782	4.865000	0.62998	1.453000	0.47775	0.655000	0.94253	CGC	CEP120	-	NULL	ENSG00000168944		0.378	CEP120-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP120	HGNC	protein_coding	OTTHUMT00000250899.2	69	0.00	0	G	NM_153223		122713082	122713082	-1	no_errors	ENST00000306467	ensembl	human	known	69_37n	missense	106	20.30	27	SNP	0.722	A
CHN1	1123	genome.wustl.edu	37	2	175742762	175742762	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:175742762C>T	ENST00000409900.3	-	6	668	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.D119N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	119	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATCAAGCCATCAGTCACCAGA	0.433			T	TAF15	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													166.0	157.0	160.0					2																	175742762		1946	4164	6110	-	-	-	SO:0001583	missense	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.355G>A	2.37:g.175742762C>T	ENSP00000386741:p.Asp119Asn		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.D119N	ENST00000409900.3	37	c.355	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.449876	0.96205	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.62788	-0.0;-0.0	5.67	5.67	0.87782	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80848	-0.1199	10	0.52906	T	0.07	.	18.7375	0.91761	0.0:1.0:0.0:0.0	.	119;119	B4DV19;P15882	.;CHIN_HUMAN	N	119	ENSP00000386741:D119N;ENSP00000386470:D119N	ENSP00000386470:D119N	D	-	1	0	CHN1	175451008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.663000	0.90544	0.655000	0.94253	GAT	CHN1	-	smart_SH2,pirsf_N-chimaerin	ENSG00000128656		0.433	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	71	0.00	0	C	NM_001822		175742762	175742762	-1	no_errors	ENST00000409900	ensembl	human	known	69_37n	missense	42	32.26	20	SNP	1.000	T
CHN1	1123	genome.wustl.edu	37	2	175742762	175742762	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:175742762C>T	ENST00000409900.3	-	6	668	c.355G>A	c.(355-357)Gat>Aat	p.D119N	CHN1_ENST00000488080.1_Intron|CHN1_ENST00000409156.3_Missense_Mutation_p.D119N	NM_001822.5	NP_001813.1	P15882	CHIN_HUMAN	chimerin 1	119	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				ephrin receptor signaling pathway (GO:0048013)|motor neuron axon guidance (GO:0008045)|positive regulation of signal transduction (GO:0009967)|regulation of axonogenesis (GO:0050770)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.226)			ATCAAGCCATCAGTCACCAGA	0.433			T	TAF15	extraskeletal myxoid chondrosarcoma																																	dbGAP		Dom	yes		2	2q31-q32.1	1123	chimerin (chimaerin) 1		M	0													166.0	157.0	160.0					2																	175742762		1946	4164	6110	-	-	-	SO:0001583	missense	0				CCDS46454.1, CCDS46455.1, CCDS56147.1	2q31-q32.1	2013-02-14	2012-10-17		ENSG00000128656	ENSG00000128656		"""Rho GTPase activating proteins"", ""SH2 domain containing"""	1943	protein-coding gene	gene with protein product	"""Chimerin 1 (GTPase-activating protein, rho, 2)"", ""chimaerin 1"""	118423	"""Duane retraction syndrome 2"", ""chimerin (chimaerin) 1"""	CHN, DURS2		2299665, 15013773, 18653847	Standard	NM_001822		Approved	RhoGAP2, ARHGAP2, n-chimerin	uc002uji.3	P15882	OTTHUMG00000154225	ENST00000409900.3:c.355G>A	2.37:g.175742762C>T	ENSP00000386741:p.Asp119Asn		A8K1M6|B3KNU6|B4DV19|Q53SD6|Q53SH5|Q96FB0	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd	p.D119N	ENST00000409900.3	37	c.355	CCDS46455.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.449876	0.96205	.	.	ENSG00000128656	ENST00000409900;ENST00000409156	T;T	0.62788	-0.0;-0.0	5.67	5.67	0.87782	SH2 motif (1);	0.000000	0.85682	D	0.000000	T	0.80523	0.4639	M	0.77313	2.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.80848	-0.1199	10	0.52906	T	0.07	.	18.7375	0.91761	0.0:1.0:0.0:0.0	.	119;119	B4DV19;P15882	.;CHIN_HUMAN	N	119	ENSP00000386741:D119N;ENSP00000386470:D119N	ENSP00000386470:D119N	D	-	1	0	CHN1	175451008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.743000	0.85020	2.663000	0.90544	0.655000	0.94253	GAT	CHN1	-	smart_SH2,pirsf_N-chimaerin	ENSG00000128656		0.433	CHN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHN1	HGNC	protein_coding	OTTHUMT00000334453.1	71	0.00	0	C	NM_001822		175742762	175742762	-1	no_errors	ENST00000409900	ensembl	human	known	69_37n	missense	98	24.03	31	SNP	1.000	T
CLCNKB	1188	genome.wustl.edu	37	1	16377395	16377395	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:16377395C>A	ENST00000375679.4	+	12	1190	c.1079C>A	c.(1078-1080)tCg>tAg	p.S360*	CLCNKB_ENST00000375667.3_Nonsense_Mutation_p.S191*	NM_000085.4	NP_000076.2	P51801	CLCKB_HUMAN	chloride channel, voltage-sensitive Kb	360					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CATCTGGACTCGCTGTTCGAC	0.672																																						dbGAP											0													38.0	42.0	41.0					1																	16377395		2203	4296	6499	-	-	-	SO:0001587	stop_gained	0			AK098217	CCDS168.1, CCDS57974.1	1p36	2012-09-26	2012-02-23		ENSG00000184908	ENSG00000184908		"""Ion channels / Chloride channels : Voltage-sensitive"""	2027	protein-coding gene	gene with protein product		602023	"""chloride channel Kb"""				Standard	NM_000085		Approved	hClC-Kb		P51801	OTTHUMG00000009530	ENST00000375679.4:c.1079C>A	1.37:g.16377395C>A	ENSP00000364831:p.Ser360*		B3KUY3|Q5T5Q7|Q5T5Q8	Nonsense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.S360*	ENST00000375679.4	37	c.1079	CCDS168.1	1	.	.	.	.	.	.	.	.	.	.	c	22.6	4.314273	0.81358	.	.	ENSG00000184908	ENST00000375679;ENST00000331579;ENST00000375667	.	.	.	4.73	4.73	0.59995	.	0.125513	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.4521	0.67392	0.0:1.0:0.0:0.0	.	.	.	.	X	360;232;191	.	ENSP00000332055:S232X	S	+	2	0	CLCNKB	16249982	0.872000	0.30054	0.024000	0.17045	0.021000	0.10359	7.374000	0.79633	2.172000	0.68678	0.561000	0.74099	TCG	CLCNKB	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core	ENSG00000184908		0.672	CLCNKB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCNKB	HGNC	protein_coding	OTTHUMT00000026331.1	38	0.00	0	C	NM_000085		16377395	16377395	+1	no_errors	ENST00000375679	ensembl	human	known	69_37n	nonsense	15	21.05	4	SNP	0.235	A
COL14A1	7373	genome.wustl.edu	37	8	121237326	121237326	+	Splice_Site	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr8:121237326G>A	ENST00000297848.3	+	15	2007		c.e15-1		COL14A1_ENST00000247781.3_Splice_Site|COL14A1_ENST00000309791.4_Splice_Site|COL14A1_ENST00000432943.2_Splice_Site|COL14A1_ENST00000537875.1_Splice_Site	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TTCTTTGACAGGTTGAAGTCG	0.373																																						dbGAP											0													119.0	114.0	116.0					8																	121237326		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.1738-1G>A	8.37:g.121237326G>A				Splice_Site	SNP	-	e14-1	ENST00000297848.3	37	c.1738-1	CCDS34938.1	8	.	.	.	.	.	.	.	.	.	.	G	16.63	3.176236	0.57692	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9201	0.88963	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	COL14A1	121306507	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	7.864000	0.87037	2.517000	0.84864	0.561000	0.74099	.	COL14A1	-	-	ENSG00000187955		0.373	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL14A1	HGNC	protein_coding	OTTHUMT00000313657.2	50	0.00	0	G	NM_021110	Intron	121237326	121237326	+1	no_errors	ENST00000297848	ensembl	human	known	69_37n	splice_site	93	16.96	19	SNP	1.000	A
COL15A1	1306	genome.wustl.edu	37	9	101797294	101797295	+	Splice_Site	INS	-	-	G			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr9:101797294_101797295insG	ENST00000375001.3	+	18	2502		c.e18-1			NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1						angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TCTTTCCTACAGGGTGACCCTG	0.564																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.2080-1->G	9.37:g.101797297_101797297dupG			Q5T6J4|Q9UDC5|Q9Y4W4	Splice_Site	INS	-	e18-1	ENST00000375001.3	37	c.2080-2_2080-1	CCDS35081.1	9																																																																																			COL15A1	-	-	ENSG00000204291		0.564	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	12	0	0	0	NM_001855	Intron	101797294	101797295	+1	no_errors	ENST00000375001	ensembl	human	known	69_37n	splice_site_ins	14	12.5	2	INS	1.000:1.000	G
COL1A2	1278	genome.wustl.edu	37	7	94030885	94030885	+	Missense_Mutation	SNP	G	G	T	rs74315131		TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:94030885G>T	ENST00000297268.6	+	6	703	c.232G>T	c.(232-234)Gct>Tct	p.A78S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	78			Missing (in EDS7B). {ECO:0000269|PubMed:1577745, ECO:0000269|PubMed:2394758, ECO:0000269|PubMed:3680255}.		blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTAGAACTTTGCTGCTCAGTA	0.274										HNSCC(75;0.22)																												dbGAP											0													91.0	94.0	93.0					7																	94030885		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.232G>T	7.37:g.94030885G>T	ENSP00000297268:p.Ala78Ser		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.A78S	ENST00000297268.6	37	c.232	CCDS34682.1	7	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593109	0.46214	.	.	ENSG00000164692	ENST00000297268;ENST00000545487	D	0.89415	-2.51	5.69	5.69	0.88448	.	0.110686	0.64402	D	0.000009	D	0.83440	0.5255	N	0.03029	-0.43	0.80722	D	1	D;D	0.56746	0.977;0.977	P;P	0.55011	0.766;0.698	T	0.81311	-0.0990	10	0.11794	T	0.64	.	20.205	0.98274	0.0:0.0:1.0:0.0	.	78;78	B4DTF5;P08123	.;CO1A2_HUMAN	S	78;79	ENSP00000297268:A78S	ENSP00000297268:A78S	A	+	1	0	COL1A2	93868821	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	8.733000	0.91539	2.857000	0.98124	0.650000	0.86243	GCT	COL1A2	-	NULL	ENSG00000164692		0.274	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	31	0.00	0	G	NM_000089		94030885	94030885	+1	no_errors	ENST00000297268	ensembl	human	known	69_37n	missense	75	10.71	9	SNP	1.000	T
CRISP2	7180	genome.wustl.edu	37	6	49663638	49663638	+	Splice_Site	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr6:49663638C>T	ENST00000339139.4	-	9	752		c.e9-1			NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2						single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ATTATTACCACTGAAATTTGA	0.343																																						dbGAP											0													83.0	78.0	79.0					6																	49663638		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.516-1G>A	6.37:g.49663638C>T			A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Splice_Site	SNP	-	e6-1	ENST00000339139.4	37	c.516-1	CCDS4928.1	6	.	.	.	.	.	.	.	.	.	.	C	13.98	2.398170	0.42512	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	.	.	.	4.71	4.71	0.59529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.5272	0.75919	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CRISP2	49771597	1.000000	0.71417	0.971000	0.41717	0.429000	0.31625	4.528000	0.60580	2.600000	0.87896	0.637000	0.83480	.	CRISP2	-	-	ENSG00000124490		0.343	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP2	HGNC	protein_coding	OTTHUMT00000040870.2	49	0.00	0	C	NM_003296	Intron	49663638	49663638	-1	no_errors	ENST00000339139	ensembl	human	known	69_37n	splice_site	36	10.00	4	SNP	0.999	T
DUS3L	56931	genome.wustl.edu	37	19	5785489	5785490	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:5785489_5785490insG	ENST00000309061.7	-	12	1880_1881	c.1784_1785insC	c.(1783-1785)ccafs	p.P595fs	PRR22_ENST00000419421.2_5'Flank|DUS3L_ENST00000320699.8_Frame_Shift_Ins_p.P353fs|CTB-54O9.9_ENST00000586012.1_Frame_Shift_Ins_p.P17fs	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	595							flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA dihydrouridine synthase activity (GO:0017150)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGATCCTCTGTGGGAGCCGCTC	0.703																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32880.1, CCDS54202.1	19p13.3	2014-02-12			ENSG00000141994	ENSG00000141994			26920	protein-coding gene	gene with protein product						12477932	Standard	NM_020175		Approved	DUS3, FLJ13896	uc002mdc.3	Q96G46	OTTHUMG00000162311	ENST00000309061.7:c.1785dupC	19.37:g.5785492_5785492dupG	ENSP00000311977:p.Pro595fs		Q96HM5|Q9BSU4|Q9H877|Q9NPR1	Frame_Shift_Ins	INS	pfam_tRNA_hU_synthase	p.Q596fs	ENST00000309061.7	37	c.1785_1784	CCDS32880.1	19																																																																																			DUS3L	-	NULL	ENSG00000141994		0.703	DUS3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUS3L	HGNC	protein_coding	OTTHUMT00000451870.2	9	0.00	0	-	NM_020175		5785489	5785490	-1	no_errors	ENST00000309061	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.020:0.990	G
EPB41L5	57669	genome.wustl.edu	37	2	120831738	120831738	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:120831738C>T	ENST00000263713.5	+	5	605	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	EPB41L5_ENST00000452780.1_Missense_Mutation_p.R131C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R131C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R131C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R131C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	131	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAATAACCTTCGTGAGGAGCT	0.333																																						dbGAP											0													61.0	63.0	62.0					2																	120831738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.391C>T	2.37:g.120831738C>T	ENSP00000263713:p.Arg131Cys		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.R131C	ENST00000263713.5	37	c.391	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106304	0.77096	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.070044	0.53938	D	0.000050	D	0.88247	0.6385	M	0.88906	2.99	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	P;P;D	0.63192	0.857;0.888;0.912	D	0.90168	0.4233	10	0.87932	D	0	.	13.5225	0.61576	0.1562:0.8438:0.0:0.0	.	131;131;131	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	C	131	ENSP00000263713:R131C;ENSP00000393856:R131C;ENSP00000329687:R131C;ENSP00000393722:R131C;ENSP00000390439:R131C	ENSP00000263713:R131C	R	+	1	0	EPB41L5	120548208	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.085000	0.64468	2.558000	0.86282	0.655000	0.94253	CGT	EPB41L5	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000115109		0.333	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	49	0.00	0	C	NM_020909		120831738	120831738	+1	no_errors	ENST00000263713	ensembl	human	known	69_37n	missense	71	24.47	23	SNP	1.000	T
EPB41L5	57669	genome.wustl.edu	37	2	120831738	120831738	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:120831738C>T	ENST00000263713.5	+	5	605	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C	EPB41L5_ENST00000452780.1_Missense_Mutation_p.R131C|EPB41L5_ENST00000331393.4_Missense_Mutation_p.R131C|EPB41L5_ENST00000443124.1_Missense_Mutation_p.R131C|EPB41L5_ENST00000443902.2_Missense_Mutation_p.R131C	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	131	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actomyosin structure organization (GO:0031032)|apical constriction (GO:0003383)|axial mesoderm morphogenesis (GO:0048319)|cellular response to transforming growth factor beta stimulus (GO:0071560)|ectoderm development (GO:0007398)|embryonic foregut morphogenesis (GO:0048617)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|in utero embryonic development (GO:0001701)|left/right axis specification (GO:0070986)|mesoderm migration involved in gastrulation (GO:0007509)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of protein binding (GO:0032091)|neural plate morphogenesis (GO:0001839)|paraxial mesoderm development (GO:0048339)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein binding (GO:0032092)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of establishment of protein localization (GO:0070201)|somite rostral/caudal axis specification (GO:0032525)|substrate-dependent cell migration, cell attachment to substrate (GO:0006931)|unidimensional cell growth (GO:0009826)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						AAATAACCTTCGTGAGGAGCT	0.333																																						dbGAP											0													61.0	63.0	62.0					2																	120831738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK023019	CCDS2130.1, CCDS54392.1, CCDS54393.1	2q14.2	2009-07-28			ENSG00000115109	ENSG00000115109			19819	protein-coding gene	gene with protein product		611730					Standard	NM_001184937		Approved	KIAA1548, FLJ12957, BE37, YMO1	uc002tmg.3	Q9HCM4	OTTHUMG00000131433	ENST00000263713.5:c.391C>T	2.37:g.120831738C>T	ENSP00000263713:p.Arg131Cys		Q7Z5S1|Q8IZ12|Q9H975	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.R131C	ENST00000263713.5	37	c.391	CCDS2130.1	2	.	.	.	.	.	.	.	.	.	.	C	21.2	4.106304	0.77096	.	.	ENSG00000115109	ENST00000263713;ENST00000443902;ENST00000331393;ENST00000443124;ENST00000452780	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	5.13	5.13	0.70059	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.070044	0.53938	D	0.000050	D	0.88247	0.6385	M	0.88906	2.99	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	P;P;D	0.63192	0.857;0.888;0.912	D	0.90168	0.4233	10	0.87932	D	0	.	13.5225	0.61576	0.1562:0.8438:0.0:0.0	.	131;131;131	Q9HCM4-4;Q9HCM4-2;Q9HCM4	.;.;E41L5_HUMAN	C	131	ENSP00000263713:R131C;ENSP00000393856:R131C;ENSP00000329687:R131C;ENSP00000393722:R131C;ENSP00000390439:R131C	ENSP00000263713:R131C	R	+	1	0	EPB41L5	120548208	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	5.085000	0.64468	2.558000	0.86282	0.655000	0.94253	CGT	EPB41L5	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	ENSG00000115109		0.333	EPB41L5-001	KNOWN	basic|CCDS	protein_coding	EPB41L5	HGNC	protein_coding	OTTHUMT00000254230.2	49	0.00	0	C	NM_020909		120831738	120831738	+1	no_errors	ENST00000263713	ensembl	human	known	69_37n	missense	101	19.20	24	SNP	1.000	T
GLS	2744	genome.wustl.edu	37	2	191796362	191796362	+	Splice_Site	DEL	G	G	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:191796362delG	ENST00000320717.3	+	14	1907	c.1649delG	c.(1648-1650)agg>ag	p.R550fs	GLS_ENST00000338435.4_Splice_Site_p.R550fs|GLS_ENST00000471443.1_3'UTR|GLS_ENST00000409428.1_Splice_Site_p.R55fs|GLS_ENST00000409215.1_Splice_Site_p.R55fs|GLS_ENST00000409626.1_Splice_Site_p.R121fs	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	550					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate biosynthetic process (GO:0006537)|glutamate secretion (GO:0014047)|glutamine catabolic process (GO:0006543)|neurotransmitter secretion (GO:0007269)|protein homotetramerization (GO:0051289)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|small molecule metabolic process (GO:0044281)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamine(DB00130)	GGTGATCAAAGGGTAAGCAAA	0.303																																						dbGAP											0													50.0	51.0	51.0					2																	191796362		2202	4297	6499	-	-	-	SO:0001630	splice_region_variant	0			AB020645	CCDS2308.1, CCDS58744.1	2q32-q34	2013-01-10			ENSG00000115419	ENSG00000115419	3.5.1.2	"""Ankyrin repeat domain containing"""	4331	protein-coding gene	gene with protein product		138280				10048485	Standard	NM_014905		Approved	KIAA0838, GLS1	uc002usf.3	O94925	OTTHUMG00000132701	ENST00000320717.3:c.1650+1G>-	2.37:g.191796362delG			Q9UL05|Q9UL06|Q9UL07|Q9UN40	Frame_Shift_Del	DEL	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.V551fs	ENST00000320717.3	37	c.1649	CCDS2308.1	2																																																																																			GLS	-	NULL	ENSG00000115419		0.303	GLS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS	HGNC	protein_coding	OTTHUMT00000255999.2	41	0.00	0	G		Frame_Shift_Del	191796362	191796362	+1	no_errors	ENST00000320717	ensembl	human	known	69_37n	frame_shift_del	22	18.52	5	DEL	1.000	-
GPC3	2719	genome.wustl.edu	37	X	132826490	132826490	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chrX:132826490C>A	ENST00000370818.3	-	5	1644	c.1199G>T	c.(1198-1200)aGc>aTc	p.S400I	GPC3_ENST00000543339.1_Missense_Mutation_p.S346I|GPC3_ENST00000394299.2_Missense_Mutation_p.S423I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	400					anatomical structure morphogenesis (GO:0009653)|anterior/posterior axis specification (GO:0009948)|body morphogenesis (GO:0010171)|bone mineralization (GO:0030282)|branching involved in ureteric bud morphogenesis (GO:0001658)|carbohydrate metabolic process (GO:0005975)|cell proliferation involved in metanephros development (GO:0072203)|chondroitin sulfate metabolic process (GO:0030204)|coronary vasculature development (GO:0060976)|embryonic hindlimb morphogenesis (GO:0035116)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lung development (GO:0030324)|mesenchymal cell proliferation involved in ureteric bud development (GO:0072138)|mesonephric duct morphogenesis (GO:0072180)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of growth (GO:0045926)|negative regulation of smoothened signaling pathway (GO:0045879)|osteoclast differentiation (GO:0030316)|phototransduction, visible light (GO:0007603)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of endocytosis (GO:0045807)|positive regulation of glucose import (GO:0046326)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of plasma membrane (GO:0046658)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	peptidyl-dipeptidase inhibitor activity (GO:0060422)			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTATAGAAGCTGATGAAAGA	0.423			"""T, D, Mis, N, F, S"""			Wilms tumour			Simpson-Golabi-Behmel syndrome																													dbGAP	yes	Rec/X		Simpson-Golabi-Behmel syndrome	X	Xq26.1	2719	glypican 3		O	0													71.0	65.0	67.0					X																	132826490		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	SGBS	L47125	CCDS14638.1, CCDS55496.1	Xq26	2014-09-17			ENSG00000147257	ENSG00000147257		"""Proteoglycans / Cell Surface : Glypicans"""	4451	protein-coding gene	gene with protein product	"""glypican proteoglycan 3"""	300037		SDYS		8589713, 9787072	Standard	NM_004484		Approved	OCI-5, SGBS, SGBS1, SGB, DGSX	uc010nrn.2	P51654	OTTHUMG00000022448	ENST00000370818.3:c.1199G>T	X.37:g.132826490C>A	ENSP00000359854:p.Ser400Ile		C9JLE3|G3V1R0|Q2L880|Q2L882	Missense_Mutation	SNP	pfam_Glypican	p.S423I	ENST00000370818.3	37	c.1268	CCDS14638.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	16.61|16.61	3.172510|3.172510	0.57584|0.57584	.|.	.|.	ENSG00000147257|ENSG00000147257	ENST00000406757|ENST00000370818;ENST00000394299;ENST00000543339	.|T;T;T	.|0.52983	.|0.64;0.64;0.64	5.43|5.43	-1.9|-1.9	0.07665|0.07665	.|.	.|0.736003	.|0.14075	.|N	.|0.343124	T|T	0.33876|0.33876	0.0878|0.0878	L|L	0.27053|0.27053	0.805|0.805	0.22961|0.22961	N|N	0.998504|0.998504	.|B;B;B;B	.|0.25312	.|0.037;0.07;0.123;0.037	.|B;B;B;B	.|0.35655	.|0.088;0.161;0.207;0.088	T|T	0.40776|0.40776	-0.9545|-0.9545	5|10	.|0.72032	.|D	.|0.01	.|.	6.2166|6.2166	0.20658|0.20658	0.0:0.2329:0.15:0.6171|0.0:0.2329:0.15:0.6171	.|.	.|384;346;423;400	.|B4DTD8;G3V1R0;C9JLE3;P51654	.|.;.;.;GPC3_HUMAN	S|I	130|400;423;346	.|ENSP00000359854:S400I;ENSP00000377836:S423I;ENSP00000444222:S346I	.|ENSP00000359854:S400I	A|S	-|-	1|2	0|0	GPC3|GPC3	132654156|132654156	0.779000|0.779000	0.28652|0.28652	0.988000|0.988000	0.46212|0.46212	0.997000|0.997000	0.91878|0.91878	-0.339000|-0.339000	0.07832|0.07832	-0.399000|-0.399000	0.07668|0.07668	0.509000|0.509000	0.49947|0.49947	GCT|AGC	GPC3	-	pfam_Glypican	ENSG00000147257		0.423	GPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC3	HGNC	protein_coding	OTTHUMT00000058356.1	48	0.00	0	C	NM_004484		132826490	132826490	-1	no_errors	ENST00000394299	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.971	A
GPR112	139378	genome.wustl.edu	37	X	135430546	135430546	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chrX:135430546G>A	ENST00000394143.1	+	6	4972	c.4681G>A	c.(4681-4683)Gag>Aag	p.E1561K	GPR112_ENST00000287534.4_Missense_Mutation_p.E1498K|GPR112_ENST00000394141.1_Missense_Mutation_p.E1356K|GPR112_ENST00000370652.1_Missense_Mutation_p.E1561K|GPR112_ENST00000412101.1_Missense_Mutation_p.E1356K	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1561					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCCTATGTCTGAGATGTCCTC	0.413																																						dbGAP											0													132.0	126.0	128.0					X																	135430546		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.4681G>A	X.37:g.135430546G>A	ENSP00000377699:p.Glu1561Lys		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E1561K	ENST00000394143.1	37	c.4681	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	g	16.94	3.259482	0.59321	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40756	1.06;1.06;1.02;1.12;1.02	2.86	1.96	0.26148	.	.	.	.	.	T	0.46737	0.1408	L	0.34521	1.04	0.09310	N	1	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.75484	0.981;0.986;0.968	T	0.20773	-1.0265	9	0.66056	D	0.02	.	4.2896	0.10872	0.1976:0.0:0.8024:0.0	.	1498;1356;1561	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	K	1561;1561;1356;1498;1356	ENSP00000377699:E1561K;ENSP00000359686:E1561K;ENSP00000416526:E1356K;ENSP00000287534:E1498K;ENSP00000377697:E1356K	ENSP00000287534:E1498K	E	+	1	0	GPR112	135258212	1.000000	0.71417	0.187000	0.23214	0.367000	0.29736	2.920000	0.48844	1.390000	0.46547	0.287000	0.19450	GAG	GPR112	-	NULL	ENSG00000156920		0.413	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	52	0.00	0	G			135430546	135430546	+1	no_errors	ENST00000370652	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	0.336	A
GPR22	2845	genome.wustl.edu	37	7	107115253	107115253	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:107115253C>A	ENST00000304402.4	+	3	2091	c.748C>A	c.(748-750)Cag>Aag	p.Q250K	COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	250					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTCAACAGGGCAGAAGAAGAA	0.373																																						dbGAP											0													80.0	72.0	75.0					7																	107115253		2203	4298	6501	-	-	-	SO:0001583	missense	0			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.748C>A	7.37:g.107115253C>A	ENSP00000302676:p.Gln250Lys		O14554	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q250K	ENST00000304402.4	37	c.748	CCDS5744.1	7	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393294	0.25118	.	.	ENSG00000172209	ENST00000304402	T	0.34859	1.34	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.261197	0.39687	N	0.001291	T	0.29914	0.0748	L	0.38175	1.15	0.54753	D	0.999985	B	0.14805	0.011	B	0.19148	0.024	T	0.16453	-1.0402	10	0.06365	T	0.9	-0.4437	19.5126	0.95148	0.0:1.0:0.0:0.0	.	250	Q99680	GPR22_HUMAN	K	250	ENSP00000302676:Q250K	ENSP00000302676:Q250K	Q	+	1	0	GPR22	106902489	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.748000	0.62148	2.618000	0.88619	0.585000	0.79938	CAG	GPR22	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172209		0.373	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	HGNC	protein_coding	OTTHUMT00000337598.1	43	0.00	0	C			107115253	107115253	+1	no_errors	ENST00000304402	ensembl	human	known	69_37n	missense	29	64.20	52	SNP	1.000	A
GPR22	2845	genome.wustl.edu	37	7	107115253	107115253	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:107115253C>A	ENST00000304402.4	+	3	2091	c.748C>A	c.(748-750)Cag>Aag	p.Q250K	COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000347053.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	250					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						TTCAACAGGGCAGAAGAAGAA	0.373																																						dbGAP											0													80.0	72.0	75.0					7																	107115253		2203	4298	6501	-	-	-	SO:0001583	missense	0			U66581	CCDS5744.1	7q22-q31.1	2012-08-21			ENSG00000172209	ENSG00000172209		"""GPCR / Class A : Orphans"""	4477	protein-coding gene	gene with protein product		601910				9073069	Standard	NM_005295		Approved		uc003vef.3	Q99680	OTTHUMG00000154902	ENST00000304402.4:c.748C>A	7.37:g.107115253C>A	ENSP00000302676:p.Gln250Lys		O14554	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	p.Q250K	ENST00000304402.4	37	c.748	CCDS5744.1	7	.	.	.	.	.	.	.	.	.	.	C	10.59	1.393294	0.25118	.	.	ENSG00000172209	ENST00000304402	T	0.34859	1.34	5.56	5.56	0.83823	GPCR, rhodopsin-like superfamily (1);	0.261197	0.39687	N	0.001291	T	0.29914	0.0748	L	0.38175	1.15	0.54753	D	0.999985	B	0.14805	0.011	B	0.19148	0.024	T	0.16453	-1.0402	10	0.06365	T	0.9	-0.4437	19.5126	0.95148	0.0:1.0:0.0:0.0	.	250	Q99680	GPR22_HUMAN	K	250	ENSP00000302676:Q250K	ENSP00000302676:Q250K	Q	+	1	0	GPR22	106902489	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	4.748000	0.62148	2.618000	0.88619	0.585000	0.79938	CAG	GPR22	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172209		0.373	GPR22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR22	HGNC	protein_coding	OTTHUMT00000337598.1	43	0.00	0	C			107115253	107115253	+1	no_errors	ENST00000304402	ensembl	human	known	69_37n	missense	84	40.00	56	SNP	1.000	A
GPRC5C	55890	genome.wustl.edu	37	17	72436047	72436047	+	Silent	SNP	C	C	T	rs200618668		TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:72436047C>T	ENST00000481232.1	+	2	778	c.267C>T	c.(265-267)gaC>gaT	p.D89D	GPRC5C_ENST00000392629.2_Silent_p.D56D|GPRC5C_ENST00000392627.1_Silent_p.D89D|GPRC5C_ENST00000342648.5_Intron			Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, class C, group 5, member C	44					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)|vesicle (GO:0031982)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						ACCTGTGTGACCGCTCTGGGG	0.662																																						dbGAP											0													64.0	60.0	61.0					17																	72436047		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AF207989	CCDS11699.1, CCDS42378.1	17q25	2014-01-30	2014-01-30		ENSG00000170412	ENSG00000170412		"""GPCR / Class C : Orphans"""	13309	protein-coding gene	gene with protein product		605949	"""G protein-coupled receptor, family C, group 5, member C"""			10945465	Standard	NM_022036		Approved	RAIG-3	uc002jkr.3	Q9NQ84	OTTHUMG00000067613	ENST00000481232.1:c.267C>T	17.37:g.72436047C>T			B5BUN4|Q2NL85|Q9NZG5	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C	p.P64S	ENST00000481232.1	37	c.190		17																																																																																			GPRC5C	-	NULL	ENSG00000170412		0.662	GPRC5C-002	PUTATIVE	basic|exp_conf	protein_coding	GPRC5C	HGNC	protein_coding	OTTHUMT00000145095.2	19	0.00	0	C			72436047	72436047	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000392628	ensembl	human	putative	69_37n	missense	16	42.86	12	SNP	1.000	T
GPRIN2	9721	genome.wustl.edu	37	10	46999608	46999608	+	Frame_Shift_Del	DEL	C	C	-	rs374420863		TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr10:46999608delC	ENST00000374317.1	+	3	1001	c.728delC	c.(727-729)gctfs	p.A243fs	GPRIN2_ENST00000374314.4_Frame_Shift_Del_p.A243fs	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	243										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGGTGAGGGCTGGTGGCTGC	0.632																																						dbGAP											0													53.0	57.0	56.0					10																	46999608		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.728delC	10.37:g.46999608delC	ENSP00000363436:p.Ala243fs		Q5SVF0	Frame_Shift_Del	DEL	NULL	p.A243fs	ENST00000374317.1	37	c.728	CCDS31192.1	10																																																																																			GPRIN2	-	NULL	ENSG00000204175		0.632	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	24	0.00	0	C	NM_014696		46999608	46999608	+1	no_errors	ENST00000374314	ensembl	human	known	69_37n	frame_shift_del	38	14.00	7	DEL	0.001	-
GREB1	9687	genome.wustl.edu	37	2	11716525	11716525	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:11716525C>A	ENST00000381486.2	+	5	801	c.501C>A	c.(499-501)taC>taA	p.Y167*	GREB1_ENST00000381483.2_Nonsense_Mutation_p.Y167*|GREB1_ENST00000263834.5_Nonsense_Mutation_p.Y167*|GREB1_ENST00000234142.5_Nonsense_Mutation_p.Y167*|GREB1_ENST00000389825.3_Nonsense_Mutation_p.Y57*	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	167						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCTTCTGTTACTTCACGGAAT	0.393																																					Ovarian(39;850 945 2785 23371 33093)	dbGAP											0													138.0	144.0	142.0					2																	11716525		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.501C>A	2.37:g.11716525C>A	ENSP00000370896:p.Tyr167*		A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Nonsense_Mutation	SNP	NULL	p.Y167*	ENST00000381486.2	37	c.501	CCDS42655.1	2	.	.	.	.	.	.	.	.	.	.	C	37	6.454510	0.97581	.	.	ENSG00000196208	ENST00000381486;ENST00000263834;ENST00000389825;ENST00000381483;ENST00000234142	.	.	.	4.88	3.06	0.35304	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-28.343	7.6963	0.28596	0.0:0.7422:0.0:0.2578	.	.	.	.	X	167;167;57;167;167	.	ENSP00000234142:Y167X	Y	+	3	2	GREB1	11633976	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	0.866000	0.27954	0.635000	0.30488	0.655000	0.94253	TAC	GREB1	-	NULL	ENSG00000196208		0.393	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GREB1	HGNC	protein_coding	OTTHUMT00000280490.1	50	0.00	0	C	NM_014668		11716525	11716525	+1	no_errors	ENST00000234142	ensembl	human	known	69_37n	nonsense	49	10.91	6	SNP	1.000	A
GRIN2D	2906	genome.wustl.edu	37	19	48945083	48945083	+	Silent	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:48945083C>T	ENST00000263269.3	+	11	2398	c.2310C>T	c.(2308-2310)gaC>gaT	p.D770D		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	770					adult locomotory behavior (GO:0008344)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|regulation of sensory perception of pain (GO:0051930)|signal transduction (GO:0007165)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CCCGCAAGGACGAGGGCTGCA	0.627																																						dbGAP											0													67.0	53.0	58.0					19																	48945083		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U77783	CCDS12719.1	19q13.33	2012-08-29			ENSG00000105464	ENSG00000105464		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4588	protein-coding gene	gene with protein product	"""N-methyl-d-aspartate receptor subunit 2D"""	602717		NMDAR2D		9480759, 9418891	Standard	NM_000836		Approved	GluN2D, EB11, NR2D	uc002pjc.4	O15399		ENST00000263269.3:c.2310C>T	19.37:g.48945083C>T				Silent	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.D770	ENST00000263269.3	37	c.2310	CCDS12719.1	19																																																																																			GRIN2D	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt	ENSG00000105464		0.627	GRIN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2D	HGNC	protein_coding	OTTHUMT00000466121.1	13	0.00	0	C			48945083	48945083	+1	no_errors	ENST00000263269	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	0.944	T
HS3ST5	222537	genome.wustl.edu	37	6	114378876	114378876	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr6:114378876C>T	ENST00000312719.5	-	5	1774	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.V196M			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCCTCTAGCACCTGAGTATAA	0.408																																						dbGAP											0													242.0	245.0	244.0					6																	114378876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.586G>A	6.37:g.114378876C>T	ENSP00000427888:p.Val196Met		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.V196M	ENST00000312719.5	37	c.586	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746898	0.69418	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.82344	-1.6;-1.6	5.91	5.91	0.95273	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.56163	0.793	T	0.80600	-0.1310	10	0.41790	T	0.15	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	196	Q8IZT8	HS3S5_HUMAN	M	196	ENSP00000427888:V196M;ENSP00000440332:V196M	ENSP00000427888:V196M	V	-	1	0	HS3ST5	114485569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GTG	HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.408	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	72	0.00	0	C	NM_153612		114378876	114378876	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	1.000	T
HS3ST5	222537	genome.wustl.edu	37	6	114378876	114378876	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr6:114378876C>T	ENST00000312719.5	-	5	1774	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	RP3-399L15.3_ENST00000519104.1_RNA|RP3-399L15.3_ENST00000519270.1_RNA|RP3-399L15.3_ENST00000523087.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.V196M			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	196					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		CCCTCTAGCACCTGAGTATAA	0.408																																						dbGAP											0													242.0	245.0	244.0					6																	114378876		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.586G>A	6.37:g.114378876C>T	ENSP00000427888:p.Val196Met		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.V196M	ENST00000312719.5	37	c.586	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746898	0.69418	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	D;D	0.82344	-1.6;-1.6	5.91	5.91	0.95273	Sulfotransferase domain (1);	0.000000	0.85682	D	0.000000	T	0.81851	0.4910	L	0.34521	1.04	0.80722	D	1	D	0.64830	0.994	P	0.56163	0.793	T	0.80600	-0.1310	10	0.41790	T	0.15	.	20.2983	0.98569	0.0:1.0:0.0:0.0	.	196	Q8IZT8	HS3S5_HUMAN	M	196	ENSP00000427888:V196M;ENSP00000440332:V196M	ENSP00000427888:V196M	V	-	1	0	HS3ST5	114485569	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GTG	HS3ST5	-	pfam_Sulfotransferase_dom	ENSG00000249853		0.408	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	72	0.00	0	C	NM_153612		114378876	114378876	-1	no_errors	ENST00000312719	ensembl	human	known	69_37n	missense	110	20.86	29	SNP	1.000	T
HIVEP2	3097	genome.wustl.edu	37	6	143091359	143091359	+	Missense_Mutation	SNP	T	T	C			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr6:143091359T>C	ENST00000367604.1	-	4	5156	c.4517A>G	c.(4516-4518)gAt>gGt	p.D1506G	HIVEP2_ENST00000367603.2_Missense_Mutation_p.D1506G|HIVEP2_ENST00000012134.2_Missense_Mutation_p.D1506G			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1506					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(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGCAAGCCATCTTTTGGCTC	0.552																																					Esophageal Squamous(107;843 1510 13293 16805 42198)	dbGAP											0													100.0	109.0	106.0					6																	143091359		2067	4193	6260	-	-	-	SO:0001583	missense	0			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.4517A>G	6.37:g.143091359T>C	ENSP00000356576:p.Asp1506Gly		Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D1506G	ENST00000367604.1	37	c.4517	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	T	14.46	2.543394	0.45280	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.03035	4.07;4.07;4.07	6.17	6.17	0.99709	.	0.402823	0.31427	N	0.007666	T	0.07052	0.0179	M	0.65498	2.005	0.80722	D	1	D	0.59767	0.986	P	0.52710	0.707	T	0.07908	-1.0748	10	0.52906	T	0.07	-21.63	16.8222	0.85835	0.0:0.0:0.0:1.0	.	1506	P31629	ZEP2_HUMAN	G	1506	ENSP00000356576:D1506G;ENSP00000356575:D1506G;ENSP00000012134:D1506G	ENSP00000012134:D1506G	D	-	2	0	HIVEP2	143133052	1.000000	0.71417	0.995000	0.50966	0.979000	0.70002	3.735000	0.55044	2.371000	0.80710	0.533000	0.62120	GAT	HIVEP2	-	NULL	ENSG00000010818		0.552	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	54	0.00	0	T			143091359	143091359	-1	no_errors	ENST00000012134	ensembl	human	known	69_37n	missense	66	13.16	10	SNP	1.000	C
HUWE1	10075	genome.wustl.edu	37	X	53616739	53616739	+	Missense_Mutation	SNP	G	G	T	rs200500110		TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chrX:53616739G>T	ENST00000342160.3	-	35	4686	c.4229C>A	c.(4228-4230)gCt>gAt	p.A1410D	HUWE1_ENST00000262854.6_Missense_Mutation_p.A1410D|HUWE1_ENST00000218328.8_Missense_Mutation_p.A1410D			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1410					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTTTTCCCGAGCTTTCCGTTC	0.488																																						dbGAP											0													89.0	73.0	79.0					X																	53616739		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.4229C>A	X.37:g.53616739G>T	ENSP00000340648:p.Ala1410Asp		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.A1410D	ENST00000342160.3	37	c.4229	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.8|20.8	4.052549|4.052549	0.75960|0.75960	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328|ENST00000427052	T;T;T|.	0.46063|.	1.17;1.17;0.88|.	5.93|5.93	5.93|5.93	0.95920|0.95920	Armadillo-like helical (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50633|0.50633	0.1627|0.1627	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	P;D|.	0.76494|.	0.801;0.999|.	B;D|.	0.80764|.	0.34;0.994|.	T|T	0.46359|0.46359	-0.9197|-0.9197	10|5	0.59425|.	D|.	0.04|.	.|.	17.9436|17.9436	0.89032|0.89032	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1410;1410|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	D|R	1410|443	ENSP00000340648:A1410D;ENSP00000262854:A1410D;ENSP00000218328:A1410D|.	ENSP00000218328:A1410D|.	A|S	-|-	2|3	0|2	HUWE1|HUWE1	53633464|53633464	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.090000|9.090000	0.94144|0.94144	2.513000|2.513000	0.84729|0.84729	0.600000|0.600000	0.82982|0.82982	GCT|AGC	HUWE1	-	NULL	ENSG00000086758		0.488	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	36	0.00	0	G	XM_497119		53616739	53616739	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
IFNG	3458	genome.wustl.edu	37	12	68551735	68551735	+	Missense_Mutation	SNP	G	G	C			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr12:68551735G>C	ENST00000229135.3	-	3	455	c.324C>G	c.(322-324)aaC>aaG	p.N108K	IFNG-AS1_ENST00000536914.1_RNA	NM_000619.2	NP_000610.2	P01579	IFNG_HUMAN	interferon, gamma	108					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|apoptotic process (GO:0006915)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell cycle arrest (GO:0007050)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to interleukin-18 (GO:0071351)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|extrinsic apoptotic signaling pathway (GO:0097191)|humoral immune response (GO:0006959)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003340)|negative regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072308)|negative regulation of myelination (GO:0031642)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neutrophil apoptotic process (GO:0001781)|neutrophil chemotaxis (GO:0030593)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity (GO:0060550)|positive regulation of fructose 1,6-bisphosphate metabolic process (GO:0060552)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-23 production (GO:0032747)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production (GO:2000309)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of vitamin D biosynthetic process (GO:0060557)|protein import into nucleus, translocation (GO:0000060)|regulation of insulin secretion (GO:0050796)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of the force of heart contraction (GO:0002026)|response to drug (GO:0042493)|response to virus (GO:0009615)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|interferon-gamma receptor binding (GO:0005133)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Olsalazine(DB01250)	GTTTCTTTTTGTTGCTATTGA	0.348																																						dbGAP											0													163.0	161.0	162.0					12																	68551735		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8980.1	12q14	2007-10-17			ENSG00000111537	ENSG00000111537		"""Interferons"""	5438	protein-coding gene	gene with protein product		147570					Standard	NM_000619		Approved		uc001stw.1	P01579	OTTHUMG00000169113	ENST00000229135.3:c.324C>G	12.37:g.68551735G>C	ENSP00000229135:p.Asn108Lys		B5BU88|Q53ZV4	Missense_Mutation	SNP	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	p.N108K	ENST00000229135.3	37	c.324	CCDS8980.1	12	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676966	0.47886	.	.	ENSG00000111537	ENST00000229135	T	0.45276	0.9	5.38	0.129	0.14739	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.511250	0.24070	N	0.041830	T	0.27765	0.0683	L	0.29908	0.895	0.09310	N	1	P	0.49253	0.921	B	0.42959	0.403	T	0.19451	-1.0305	9	.	.	.	-2.2586	8.7012	0.34327	0.4469:0.0:0.5531:0.0	.	108	P01579	IFNG_HUMAN	K	108	ENSP00000229135:N108K	.	N	-	3	2	IFNG	66838002	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.309000	0.08145	0.044000	0.15775	0.655000	0.94253	AAC	IFNG	-	pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma	ENSG00000111537		0.348	IFNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNG	HGNC	protein_coding	OTTHUMT00000402301.1	77	0.00	0	G			68551735	68551735	-1	no_errors	ENST00000229135	ensembl	human	known	69_37n	missense	97	28.15	38	SNP	0.000	C
KRTAP9-1	728318	genome.wustl.edu	37	17	39346593	39346595	+	In_Frame_Del	DEL	CCT	CCT	-	rs377187211|rs148036927|rs11283848	byFrequency	TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:39346593_39346595delCCT	ENST00000398470.1	+	1	455_457	c.455_457delCCT	c.(454-459)acctgc>agc	p.152_153TC>S	KRTAP9-1_ENST00000318329.5_In_Frame_Del_p.69_70TC>S|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	152	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)		p.T152_C153>S(2)		breast(1)|lung(3)	4						TGCCAGCCCACCTGCTGTGGGTC	0.581																																						dbGAP											2	Complex - deletion inframe(2)	breast(2)																																								-	-	-	SO:0001651	inframe_deletion	0			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.455_457delCCT	17.37:g.39346593_39346595delCCT	ENSP00000381488:p.Thr152_Cys153delinsSer			In_Frame_Del	DEL	NULL	p.TC152in_frame_delS	ENST00000398470.1	37	c.455_457	CCDS56029.1	17																																																																																			KRTAP9-1	-	NULL	ENSG00000240542		0.581	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-1	HGNC	protein_coding	OTTHUMT00000257781.1	18	0.00	0	CCT			39346593	39346595	+1	no_errors	ENST00000398470	ensembl	human	known	69_37n	in_frame_del	61	30.68	27	DEL	0.001:0.010:0.140	-
LARS	51520	genome.wustl.edu	37	5	145531429	145531429	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr5:145531429T>A	ENST00000394434.2	-	14	1587	c.1421A>T	c.(1420-1422)gAg>gTg	p.E474V	LARS_ENST00000545646.1_Missense_Mutation_p.E428V|LARS_ENST00000510191.1_Missense_Mutation_p.E420V|LARS_ENST00000274562.9_Missense_Mutation_p.E447V	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	474	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACTTACACCCTCATAAAATCC	0.303																																						dbGAP											0													125.0	141.0	136.0					5																	145531429		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1421A>T	5.37:g.145531429T>A	ENSP00000377954:p.Glu474Val		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.E474V	ENST00000394434.2	37	c.1421	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460055	0.63401	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.14	5.14	0.70334	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.220111	0.45867	D	0.000338	T	0.79924	0.4530	M	0.84082	2.675	0.80722	D	1	B;P;B	0.38420	0.109;0.63;0.05	B;B;B	0.37198	0.174;0.243;0.05	T	0.83198	-0.0080	10	0.62326	D	0.03	-7.3252	15.2521	0.73556	0.0:0.0:0.0:1.0	.	447;428;474	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	V	474;428;420;447	ENSP00000377954:E474V;ENSP00000437791:E428V;ENSP00000426005:E420V;ENSP00000274562:E447V	ENSP00000274562:E447V	E	-	2	0	LARS	145511622	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	7.860000	0.86993	2.070000	0.61991	0.460000	0.39030	GAG	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.303	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	68	0.00	0	T	NM_020117		145531429	145531429	-1	no_errors	ENST00000394434	ensembl	human	known	69_37n	missense	24	27.27	9	SNP	1.000	A
LARS	51520	genome.wustl.edu	37	5	145531429	145531429	+	Missense_Mutation	SNP	T	T	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr5:145531429T>A	ENST00000394434.2	-	14	1587	c.1421A>T	c.(1420-1422)gAg>gTg	p.E474V	LARS_ENST00000545646.1_Missense_Mutation_p.E428V|LARS_ENST00000510191.1_Missense_Mutation_p.E420V|LARS_ENST00000274562.9_Missense_Mutation_p.E447V	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	474	Editing domain.				gene expression (GO:0010467)|leucyl-tRNA aminoacylation (GO:0006429)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|leucine-tRNA ligase activity (GO:0004823)			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	ACTTACACCCTCATAAAATCC	0.303																																						dbGAP											0													125.0	141.0	136.0					5																	145531429		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF151026	CCDS34265.1	5q32	2012-10-02			ENSG00000133706	ENSG00000133706	6.1.1.4	"""Aminoacyl tRNA synthetases / Class I"""	6512	protein-coding gene	gene with protein product	"""leucine tRNA ligase 1, cytoplasmic"""	151350				6933703	Standard	NM_020117		Approved	HSPC192, FLJ10595, FLJ21788, LARS1, LEUS, RNTLS	uc003lnx.1	Q9P2J5	OTTHUMG00000163429	ENST00000394434.2:c.1421A>T	5.37:g.145531429T>A	ENSP00000377954:p.Glu474Val		A2RRR4|A7E266|B4DJ10|Q2TU79|Q9NSE1	Missense_Mutation	SNP	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,tigrfam_Leu-tRNA-synth_Ia_arc/euk	p.E474V	ENST00000394434.2	37	c.1421	CCDS34265.1	5	.	.	.	.	.	.	.	.	.	.	T	17.72	3.460055	0.63401	.	.	ENSG00000133706	ENST00000394434;ENST00000545646;ENST00000510191;ENST00000274562	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	5.14	5.14	0.70334	Valyl/Leucyl/Isoleucyl-tRNA synthetase, class Ia, editing domain (2);Aminoacyl-tRNA synthetase, class Ia (1);	0.220111	0.45867	D	0.000338	T	0.79924	0.4530	M	0.84082	2.675	0.80722	D	1	B;P;B	0.38420	0.109;0.63;0.05	B;B;B	0.37198	0.174;0.243;0.05	T	0.83198	-0.0080	10	0.62326	D	0.03	-7.3252	15.2521	0.73556	0.0:0.0:0.0:1.0	.	447;428;474	B4DER1;F5H698;Q9P2J5	.;.;SYLC_HUMAN	V	474;428;420;447	ENSP00000377954:E474V;ENSP00000437791:E428V;ENSP00000426005:E420V;ENSP00000274562:E447V	ENSP00000274562:E447V	E	-	2	0	LARS	145511622	1.000000	0.71417	0.995000	0.50966	0.892000	0.51952	7.860000	0.86993	2.070000	0.61991	0.460000	0.39030	GAG	LARS	-	pfam_aa-tRNA-synth_Ia,tigrfam_Leu-tRNA-synth_Ia_arc/euk	ENSG00000133706		0.303	LARS-001	KNOWN	basic|CCDS	protein_coding	LARS	HGNC	protein_coding	OTTHUMT00000373367.1	68	0.00	0	T	NM_020117		145531429	145531429	-1	no_errors	ENST00000394434	ensembl	human	known	69_37n	missense	111	27.92	43	SNP	1.000	A
LILRB3	11025	genome.wustl.edu	37	19	54725992	54725992	+	Silent	SNP	G	G	A	rs148339740	byFrequency	TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:54725992G>A	ENST00000391750.1	-	5	502	c.366C>T	c.(364-366)agC>agT	p.S122S	LILRB3_ENST00000407860.2_Silent_p.S122S|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000245620.9_Silent_p.S122S|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000469273.1_5'Flank|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000346401.6_Silent_p.S122S|LILRB3_ENST00000424807.1_Silent_p.S122S|CTB-83J4.1_ENST00000601161.1_lincRNA|LILRA6_ENST00000419410.2_Intron			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	122	Ig-like C2-type 2.		S -> N (in dbSNP:rs3826750). {ECO:0000269|PubMed:9278324}.		cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)	integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTGGGTTTGCTGTAGGCTC	0.592													.|||	959	0.191494	0.1029	0.1744	5008	,	,		13407	0.1071		0.2495	False		,,,				2504	0.3507					dbGAP											0													62.0	40.0	48.0					19																	54725992		2132	3919	6051	-	-	-	SO:0001819	synonymous_variant	0			U91928	CCDS33105.1, CCDS46175.1	19q13.4	2013-01-11			ENSG00000204577	ENSG00000204577		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6607	protein-coding gene	gene with protein product		604820				9278324, 9382880	Standard	NM_006864		Approved	LIR-3, HL9, ILT5, LIR3, CD85a	uc002qee.1	O75022	OTTHUMG00000066626	ENST00000391750.1:c.366C>T	19.37:g.54725992G>A			C9J1P3|C9JIP1|O15471|Q86U49	Silent	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S122	ENST00000391750.1	37	c.366	CCDS33105.1	19																																																																																			LILRB3	-	NULL	ENSG00000204577		0.592	LILRB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LILRB3	HGNC	protein_coding	OTTHUMT00000142844.5	19	0.00	0	G	NM_006864		54725992	54725992	-1	no_errors	ENST00000407860	ensembl	human	known	69_37n	silent	41	32.26	20	SNP	0.000	A
LRCH3	84859	genome.wustl.edu	37	3	197566213	197566213	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr3:197566213G>A	ENST00000425562.2	+	10	1273	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	LRCH3_ENST00000438796.2_Missense_Mutation_p.A425T|LRCH3_ENST00000334859.4_Missense_Mutation_p.A425T|LRCH3_ENST00000536618.1_Missense_Mutation_p.A20T|LRCH3_ENST00000414675.2_Missense_Mutation_p.A397T|LRCH3_ENST00000441090.2_Missense_Mutation_p.A271T			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	425						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAAGCCAGTAGCCATTAGGGA	0.333																																						dbGAP											0													52.0	53.0	53.0					3																	197566213		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1273G>A	3.37:g.197566213G>A	ENSP00000393579:p.Ala425Thr		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.A425T	ENST00000425562.2	37	c.1273		3	.	.	.	.	.	.	.	.	.	.	G	11.59	1.682980	0.29872	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.44482	2.16;1.53;2.11;2.4;2.18;0.92	5.74	2.91	0.33838	.	0.371383	0.29501	N	0.011961	T	0.23649	0.0572	N	0.14661	0.345	0.22240	N	0.999261	B;B;B;B;B	0.31949	0.054;0.236;0.052;0.054;0.348	B;B;B;B;B	0.32980	0.05;0.05;0.075;0.05;0.156	T	0.19128	-1.0315	10	0.10902	T	0.67	-0.0471	11.7902	0.52065	0.0:0.5848:0.3295:0.0857	.	271;397;425;425;425	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	T	425;271;397;425;425;20	ENSP00000399751:A425T;ENSP00000394609:A271T;ENSP00000394965:A397T;ENSP00000334375:A425T;ENSP00000393579:A425T;ENSP00000439083:A20T	ENSP00000334375:A425T	A	+	1	0	LRCH3	199050610	0.304000	0.24472	0.413000	0.26509	0.581000	0.36288	0.873000	0.28052	0.418000	0.25898	-0.182000	0.12963	GCC	LRCH3	-	NULL	ENSG00000186001		0.333	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	36	0.00	0	G	NM_032773		197566213	197566213	+1	no_errors	ENST00000438796	ensembl	human	known	69_37n	missense	60	18.92	14	SNP	0.680	A
MEGF8	1954	genome.wustl.edu	37	19	42841015	42841015	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:42841015C>T	ENST00000251268.6	+	7	1301	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	MEGF8_ENST00000334370.4_Missense_Mutation_p.T434M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	434					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.T434M(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CATGTGTGGACGACGCTGAAG	0.602																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											94.0	85.0	88.0					19																	42841015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1301C>T	19.37:g.42841015C>T	ENSP00000251268:p.Thr434Met		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.T434M	ENST00000251268.6	37	c.1301		19	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384927	0.61956	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.69435	-0.4;-0.4	5.04	5.04	0.67666	.	.	.	.	.	T	0.80544	0.4643	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.82564	-0.0394	9	0.87932	D	0	-6.4587	15.9045	0.79412	0.0:1.0:0.0:0.0	.	434	Q7Z7M0-2	.	M	434	ENSP00000334219:T434M;ENSP00000251268:T434M	ENSP00000251268:T434M	T	+	2	0	MEGF8	47532855	0.999000	0.42202	0.961000	0.40146	0.402000	0.30811	3.894000	0.56250	2.623000	0.88846	0.561000	0.74099	ACG	MEGF8	-	NULL	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	26	0.00	0	C	NM_001410		42841015	42841015	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	51	23.88	16	SNP	0.987	T
MEGF8	1954	genome.wustl.edu	37	19	42841015	42841015	+	Missense_Mutation	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:42841015C>T	ENST00000251268.6	+	7	1301	c.1301C>T	c.(1300-1302)aCg>aTg	p.T434M	MEGF8_ENST00000334370.4_Missense_Mutation_p.T434M	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	434					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)	p.T434M(2)		breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CATGTGTGGACGACGCTGAAG	0.602																																						dbGAP											2	Substitution - Missense(2)	large_intestine(2)											94.0	85.0	88.0					19																	42841015		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.1301C>T	19.37:g.42841015C>T	ENSP00000251268:p.Thr434Met		A8KAY0|O75097	Missense_Mutation	SNP	pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin	p.T434M	ENST00000251268.6	37	c.1301		19	.	.	.	.	.	.	.	.	.	.	C	17.42	3.384927	0.61956	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.69435	-0.4;-0.4	5.04	5.04	0.67666	.	.	.	.	.	T	0.80544	0.4643	M	0.72118	2.19	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	T	0.82564	-0.0394	9	0.87932	D	0	-6.4587	15.9045	0.79412	0.0:1.0:0.0:0.0	.	434	Q7Z7M0-2	.	M	434	ENSP00000334219:T434M;ENSP00000251268:T434M	ENSP00000251268:T434M	T	+	2	0	MEGF8	47532855	0.999000	0.42202	0.961000	0.40146	0.402000	0.30811	3.894000	0.56250	2.623000	0.88846	0.561000	0.74099	ACG	MEGF8	-	NULL	ENSG00000105429		0.602	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	MEGF8	HGNC	protein_coding	OTTHUMT00000463854.1	26	0.00	0	C	NM_001410		42841015	42841015	+1	no_errors	ENST00000251268	ensembl	human	known	69_37n	missense	13	43.48	10	SNP	0.987	T
MPHOSPH9	10198	genome.wustl.edu	37	12	123679140	123679140	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr12:123679140C>A	ENST00000606320.1	-	13	2240	c.2034G>T	c.(2032-2034)ttG>ttT	p.L678F	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L526F|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L648F|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L526F			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	678						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		AGCGTTCTCTCAAATCATTCT	0.383																																						dbGAP											0													83.0	72.0	75.0					12																	123679140		2203	4300	6503	-	-	-	SO:0001583	missense	0			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.2034G>T	12.37:g.123679140C>A	ENSP00000475489:p.Leu678Phe		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E339*	ENST00000606320.1	37	c.1015		12	.	.	.	.	.	.	.	.	.	.	C	9.546	1.114740	0.20795	.	.	ENSG00000051825	ENST00000302349;ENST00000541076	T;T	0.78924	-1.22;-1.22	5.67	1.75	0.24633	.	0.272258	0.32204	N	0.006436	T	0.52175	0.1718	N	0.05510	-0.035	0.35595	D	0.807418	B	0.12630	0.006	B	0.10450	0.005	T	0.35748	-0.9776	10	0.30078	T	0.28	-2.7014	4.5855	0.12280	0.227:0.5307:0.1651:0.0772	.	526	Q99550	MPP9_HUMAN	F	526	ENSP00000303597:L526F;ENSP00000445859:L526F	ENSP00000303597:L526F	L	-	3	2	MPHOSPH9	122245093	1.000000	0.71417	0.984000	0.44739	0.972000	0.66771	1.080000	0.30779	0.049000	0.15920	0.655000	0.94253	TTG	MPHOSPH9	-	superfamily_Prefoldin	ENSG00000051825		0.383	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	58	0.00	0	C			123679140	123679140	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000539024	ensembl	human	known	69_37n	nonsense	62	12.68	9	SNP	1.000	A
MUC12	10071	genome.wustl.edu	37	7	100645455	100645456	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:100645455_100645456insG	ENST00000379442.3	+	5	12040_12041	c.12040_12041insG	c.(12040-12042)acafs	p.T4014fs	MUC12_ENST00000536621.1_Frame_Shift_Ins_p.T3871fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4014	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						GTTACCTGCCACACTCACAACC	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	Exception_encountered	7.37:g.100645455_100645456insG	ENSP00000368755:p.Thr4014fs		A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Ins	INS	pfam_SEA	p.T4014fs	ENST00000379442.3	37	c.12040_12041		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.584	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	8	0.00	0	-	XM_379904		100645455	100645456	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_ins	11	35.29	6	INS	0.008:0.004	G
MUC12	10071	genome.wustl.edu	37	7	100645459	100645459	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:100645459delT	ENST00000379442.3	+	5	12044	c.12044delT	c.(12043-12045)ctcfs	p.L4015fs	MUC12_ENST00000536621.1_Frame_Shift_Del_p.L3872fs			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	4015	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCTGCCACACTCACAACCGCA	0.587																																						dbGAP											0													1.0	2.0	2.0					7																	100645459		135	511	646	-	-	-	SO:0001589	frameshift_variant	0			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.12044delT	7.37:g.100645459delT	ENSP00000368755:p.Leu4015fs		A6ND38|F5GWV9|Q9UKN0	Frame_Shift_Del	DEL	pfam_SEA	p.L4015fs	ENST00000379442.3	37	c.12044		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.587	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	8	0.00	0	T	XM_379904		100645459	100645459	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	frame_shift_del	11	35.29	6	DEL	0.002	-
MUC2	4583	genome.wustl.edu	37	11	1075766	1075766	+	Silent	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr11:1075766C>T	ENST00000441003.2	+	2	219	c.192C>T	c.(190-192)gcC>gcT	p.A64A	MUC2_ENST00000359061.5_Silent_p.A64A	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	64	VWFD 1. {ECO:0000255|PROSITE- ProRule:PRU00580}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi lumen (GO:0005796)|inner mucus layer (GO:0070702)|outer mucus layer (GO:0070703)				NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACAACTTCGCCTCCGACTGCC	0.647																																						dbGAP											0													21.0	26.0	25.0					11																	1075766		2032	4178	6210	-	-	-	SO:0001819	synonymous_variant	0			L21998		11p15.5	2011-01-28	2006-03-14		ENSG00000198788	ENSG00000198788		"""Mucins"""	7512	protein-coding gene	gene with protein product		158370	"""mucin 2, intestinal/tracheal"""			15081123	Standard	NM_002457		Approved		uc001lsx.1	Q02817	OTTHUMG00000156800	ENST00000441003.2:c.192C>T	11.37:g.1075766C>T			Q14878	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.A64	ENST00000441003.2	37	c.192		11																																																																																			MUC2	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000198788		0.647	MUC2-001	KNOWN	basic|appris_principal	protein_coding	MUC2	HGNC	protein_coding	OTTHUMT00000345894.2	8	0.00	0	C	NM_002457		1075766	1075766	+1	no_errors	ENST00000441003	ensembl	human	known	69_37n	silent	24	25.00	8	SNP	1.000	T
MYBPC2	4606	genome.wustl.edu	37	19	50939080	50939080	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:50939080G>A	ENST00000357701.5	+	3	208	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	53	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V53I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCACCGGCGTTTTCCTGAA	0.662																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											21.0	23.0	22.0					19																	50939080		1881	4102	5983	-	-	-	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.157G>A	19.37:g.50939080G>A	ENSP00000350332:p.Val53Ile		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V53I	ENST00000357701.5	37	c.157	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	6.567	0.472894	0.12461	.	.	ENSG00000086967	ENST00000357701	T	0.68903	-0.36	4.6	-9.19	0.00685	Immunoglobulin-like fold (1);	.	.	.	.	T	0.34803	0.0910	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	9	0.25106	T	0.35	.	8.5286	0.33319	0.1909:0.4591:0.35:0.0	.	53	Q14324	MYPC2_HUMAN	I	53	ENSP00000350332:V53I	ENSP00000350332:V53I	V	+	1	0	MYBPC2	55630892	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-2.122000	0.01321	-1.955000	0.01023	-0.483000	0.04790	GTT	MYBPC2	-	pfam_Ig_I-set	ENSG00000086967		0.662	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	32	0.00	0	G	NM_004533		50939080	50939080	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	missense	31	27.91	12	SNP	0.001	A
MYBPC2	4606	genome.wustl.edu	37	19	50939080	50939080	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:50939080G>A	ENST00000357701.5	+	3	208	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	53	Ig-like C2-type 1.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.V53I(1)		breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCCCACCGGCGTTTTCCTGAA	0.662																																						dbGAP											1	Substitution - Missense(1)	large_intestine(1)											21.0	23.0	22.0					19																	50939080		1881	4102	5983	-	-	-	SO:0001583	missense	0				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.157G>A	19.37:g.50939080G>A	ENSP00000350332:p.Val53Ile		A1L4G9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V53I	ENST00000357701.5	37	c.157	CCDS46152.1	19	.	.	.	.	.	.	.	.	.	.	.	6.567	0.472894	0.12461	.	.	ENSG00000086967	ENST00000357701	T	0.68903	-0.36	4.6	-9.19	0.00685	Immunoglobulin-like fold (1);	.	.	.	.	T	0.34803	0.0910	N	0.04508	-0.205	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.25745	-1.0123	9	0.25106	T	0.35	.	8.5286	0.33319	0.1909:0.4591:0.35:0.0	.	53	Q14324	MYPC2_HUMAN	I	53	ENSP00000350332:V53I	ENSP00000350332:V53I	V	+	1	0	MYBPC2	55630892	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	-2.122000	0.01321	-1.955000	0.01023	-0.483000	0.04790	GTT	MYBPC2	-	pfam_Ig_I-set	ENSG00000086967		0.662	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	32	0.00	0	G	NM_004533		50939080	50939080	+1	no_errors	ENST00000357701	ensembl	human	known	69_37n	missense	27	38.64	17	SNP	0.001	A
NEK10	152110	genome.wustl.edu	37	3	27243933	27243933	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr3:27243933delA	ENST00000429845.2	-	25	2568	c.2206delT	c.(2206-2208)tccfs	p.S736fs	NEK10_ENST00000357467.2_Frame_Shift_Del_p.S133fs|NEK10_ENST00000295720.6_Frame_Shift_Del_p.S48fs|NEK10_ENST00000383770.3_Frame_Shift_Del_p.S48fs|NEK10_ENST00000383771.4_Frame_Shift_Del_p.S48fs			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	736					positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein autophosphorylation (GO:0031954)|protein phosphorylation (GO:0006468)|regulation of cell cycle G2/M phase transition (GO:1902749)|regulation of ERK1 and ERK2 cascade (GO:0070372)	protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GTAGCCAAGGACAGCATGTTA	0.453																																						dbGAP											0													82.0	73.0	76.0					3																	27243933		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AK123061, AK057247	CCDS46781.1	3p24.1	2012-11-15	2012-11-15		ENSG00000163491	ENSG00000163491			18592	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)- related kinase 10"""			15289607	Standard	NM_199347		Approved	FLJ32685	uc003cdt.2	Q6ZWH5	OTTHUMG00000130571	ENST00000429845.2:c.2206delT	3.37:g.27243933delA	ENSP00000395849:p.Ser736fs		A8MWG1|B9ZVR0|Q45VJ4|Q6ZR11|Q7Z671|Q86XB1|Q96MB3	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	p.S48fs	ENST00000429845.2	37	c.142		3																																																																																			NEK10	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom	ENSG00000163491		0.453	NEK10-016	NOVEL	basic|appris_principal	protein_coding	NEK10	HGNC	protein_coding	OTTHUMT00000438156.1	33	0.00	0	A	NM_152534		27243933	27243933	-1	no_errors	ENST00000383771	ensembl	human	known	69_37n	frame_shift_del	16	11.11	2	DEL	1.000	-
NTRK3	4916	genome.wustl.edu	37	15	88690632	88690632	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr15:88690632delT	ENST00000360948.2	-	5	559	c.398delA	c.(397-399)aacfs	p.N133fs	NTRK3_ENST00000317501.3_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000558676.1_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000355254.2_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000540489.2_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000357724.2_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000394480.2_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000557856.1_Frame_Shift_Del_p.N133fs|NTRK3_ENST00000542733.2_Frame_Shift_Del_p.N35fs	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	133					activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			ACTTGACAGGTTTCTGCAAGA	0.433			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																												dbGAP		Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	0													61.0	55.0	57.0					15																	88690632		2201	4299	6500	-	-	-	SO:0001589	frameshift_variant	0			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.398delA	15.37:g.88690632delT	ENSP00000354207:p.Asn133fs		B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Frame_Shift_Del	DEL	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom	p.N133fs	ENST00000360948.2	37	c.398	CCDS32322.1	15																																																																																			NTRK3	-	NULL	ENSG00000140538		0.433	NTRK3-204	KNOWN	basic|CCDS	protein_coding	NTRK3	HGNC	protein_coding		22	0.00	0	T			88690632	88690632	-1	no_errors	ENST00000360948	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000	-
NWD1	284434	genome.wustl.edu	37	19	16926010	16926010	+	Nonsense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:16926010G>A	ENST00000552788.1	+	18	4565	c.4565G>A	c.(4564-4566)tGg>tAg	p.W1522*	NWD1_ENST00000549814.1_Nonsense_Mutation_p.W1480*|NWD1_ENST00000523826.1_Nonsense_Mutation_p.W1316*|NWD1_ENST00000524140.2_3'UTR|NWD1_ENST00000339803.6_Nonsense_Mutation_p.W1387*|NWD1_ENST00000379808.3_3'UTR			Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1522							ATP binding (GO:0005524)			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAGGCAATGTGGATGGTCAAA	0.517																																						dbGAP											0													78.0	71.0	74.0					19																	16926010		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX648940	CCDS32945.1, CCDS32945.2	19p13.11	2013-01-09				ENSG00000188039		"""WD repeat domain containing"""	27619	protein-coding gene	gene with protein product							Standard	NM_001007525		Approved		uc002neu.4	Q149M9		ENST00000552788.1:c.4565G>A	19.37:g.16926010G>A	ENSP00000447224:p.Trp1522*		C9J021|Q68CT3	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W1387*	ENST00000552788.1	37	c.4160		19	.	.	.	.	.	.	.	.	.	.	G	42	9.180337	0.99091	.	.	ENSG00000188039	ENST00000420818;ENST00000549814;ENST00000523826;ENST00000552788;ENST00000339803	.	.	.	4.86	3.8	0.43715	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.5933	0.50957	0.0904:0.0:0.9096:0.0	.	.	.	.	X	1387;1480;1316;1522;1387	.	ENSP00000340159:W1387X	W	+	2	0	NWD1	16787010	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.898000	0.48672	1.161000	0.42604	0.650000	0.86243	TGG	NWD1	-	NULL	ENSG00000188039		0.517	NWD1-005	NOVEL	basic|appris_candidate_longest	protein_coding	NWD1	HGNC	protein_coding	OTTHUMT00000403569.1	35	0.00	0	G	NM_001007525		16926010	16926010	+1	no_errors	ENST00000339803	ensembl	human	known	69_37n	nonsense	46	17.86	10	SNP	1.000	A
PAFAH1B3	5050	genome.wustl.edu	37	19	42801444	42801445	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:42801444_42801445insC	ENST00000262890.3	-	5	742_743	c.481_482insG	c.(481-483)gcgfs	p.A161fs	PAFAH1B3_ENST00000538771.1_Frame_Shift_Ins_p.A161fs	NM_002573.3	NP_002564.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	161					brain development (GO:0007420)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-alkyl-2-acetylglycerophosphocholine esterase activity (GO:0003847)			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				AGCCAGTGCCGCCCGTACCAGC	0.599																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			D63391	CCDS12602.1	19q13.1	2011-10-24	2010-02-10			ENSG00000079462			8576	protein-coding gene	gene with protein product	"""PAF-AH1b alpha 1 subunit"""	603074	"""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit (29kD)"", ""platelet-activating factor acetylhydrolase, isoform Ib, gamma subunit 29kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 3 (29kDa)"""			7669037	Standard	NM_002573		Approved		uc010xwj.1	Q15102		ENST00000262890.3:c.482dupG	19.37:g.42801447_42801447dupC	ENSP00000262890:p.Ala161fs		Q53X88	Frame_Shift_Ins	INS	superfamily_Esterase_SGNH_hydro-type	p.A161fs	ENST00000262890.3	37	c.482_481	CCDS12602.1	19																																																																																			PAFAH1B3	-	superfamily_Esterase_SGNH_hydro-type	ENSG00000079462		0.599	PAFAH1B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B3	HGNC	protein_coding	OTTHUMT00000463726.1	13	0.00	0	-	NM_002573		42801444	42801445	-1	no_errors	ENST00000262890	ensembl	human	known	69_37n	frame_shift_ins	22	15.38	4	INS	0.398:0.962	C
PALM2	114299	genome.wustl.edu	37	9	112704980	112704980	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr9:112704980G>A	ENST00000374531.2	+	7	489	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	PALM2_ENST00000448454.2_Missense_Mutation_p.E173K|AKAP2_ENST00000555236.1_Intron|PALM2-AKAP2_ENST00000302798.7_Intron|PALM2_ENST00000483909.1_Missense_Mutation_p.E137K|AKAP2_ENST00000510514.5_Intron|PALM2_ENST00000314527.4_Missense_Mutation_p.E171K|PALM2-AKAP2_ENST00000374530.3_Intron	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2	139					regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						GTACGCCATGGAAATTAATGT	0.403																																						dbGAP											0													60.0	58.0	59.0					9																	112704980		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.415G>A	9.37:g.112704980G>A	ENSP00000363656:p.Glu139Lys		A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin	p.E173K	ENST00000374531.2	37	c.517	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	G	26.0	4.694665	0.88830	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654	ENST00000374531;ENST00000448454;ENST00000483909;ENST00000314527;ENST00000497711;ENST00000413420	T;T;T;T;T;T	0.45668	1.92;1.16;1.92;1.16;0.89;1.08	6.17	6.17	0.99709	.	.	.	.	.	T	0.64594	0.2612	M	0.72353	2.195	0.80722	D	1	D;D	0.76494	0.999;0.98	D;P	0.69654	0.965;0.779	T	0.56402	-0.7985	9	0.31617	T	0.26	.	19.8676	0.96824	0.0:0.0:1.0:0.0	.	139;173	Q8IXS6;D3YTA4	PALM2_HUMAN;.	K	139;173;137;171;157;171	ENSP00000363656:E139K;ENSP00000400206:E173K;ENSP00000417525:E137K;ENSP00000323805:E171K;ENSP00000419747:E157K;ENSP00000397839:E171K	ENSP00000397839:E171K	E	+	1	0	PALM2-AKAP2;PALM2	111744801	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.727000	0.98787	2.941000	0.99782	0.655000	0.94253	GAA	PALM2	-	pfam_Paralemmin	ENSG00000243444		0.403	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2	HGNC	protein_coding	OTTHUMT00000053604.1	38	0.00	0	G	NM_001037293		112704980	112704980	+1	no_errors	ENST00000448454	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	1.000	A
PDE4B	5142	genome.wustl.edu	37	1	66798131	66798131	+	Intron	SNP	C	C	A	rs375930120		TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:66798131C>A	ENST00000329654.4	+	8	821				PDE4B_ENST00000423207.2_Intron|PDE4B_ENST00000371049.3_Intron|PDE4B_ENST00000371045.5_Missense_Mutation_p.S20Y	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific						cAMP catabolic process (GO:0006198)|cellular response to drug (GO:0035690)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to lipopolysaccharide (GO:0071222)|leukocyte migration (GO:0050900)|negative regulation of relaxation of cardiac muscle (GO:1901898)|neutrophil chemotaxis (GO:0030593)|neutrophil homeostasis (GO:0001780)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 production (GO:0032743)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of high voltage-gated calcium channel activity (GO:1901841)|T cell receptor signaling pathway (GO:0050852)	cell periphery (GO:0071944)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Dyphylline(DB00651)|Enprofylline(DB00824)|Ibudilast(DB05266)|Iloprost(DB01088)|Ketotifen(DB00920)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Roflumilast(DB01656)|Theobromine(DB01412)|Theophylline(DB00277)	AGCGGTGACTCTGCTATGGAC	0.527																																						dbGAP											0													92.0	93.0	92.0					1																	66798131		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			L20971	CCDS632.1, CCDS30742.1, CCDS30743.1, CCDS72802.1	1p31	2010-06-24	2010-06-24		ENSG00000184588	ENSG00000184588		"""Phosphodiesterases"""	8781	protein-coding gene	gene with protein product	"""phosphodiesterase E4 dunce homolog (Drosophila)"""	600127	"""phosphodiesterase 4B, cAMP-specific (dunce (Drosophila)-homolog phosphodiesterase E4)"", ""phosphodiesterase 4B, cAMP-specific (phosphodiesterase E4 dunce homolog, Drosophila)"""	DPDE4			Standard	XM_005270925		Approved		uc001dco.3	Q07343	OTTHUMG00000009088	ENST00000329654.4:c.635-60C>A	1.37:g.66798131C>A			A5YW33|O15443|Q13945|Q5TEK4|Q5TEK5|Q5TEK6	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.S20Y	ENST00000329654.4	37	c.59	CCDS632.1	1	.	.	.	.	.	.	.	.	.	.	C	15.28	2.786067	0.49997	.	.	ENSG00000184588	ENST00000371045	T	0.65732	-0.17	4.97	4.06	0.47325	.	.	.	.	.	T	0.37999	0.1024	L	0.29908	0.895	0.32022	N	0.600627	B	0.27229	0.172	B	0.28011	0.085	T	0.33904	-0.9850	9	0.59425	D	0.04	.	17.6146	0.88064	0.0:0.8736:0.1264:0.0	.	62	Q13945	.	Y	20	ENSP00000360084:S20Y	ENSP00000360084:S20Y	S	+	2	0	PDE4B	66570719	0.007000	0.16637	0.532000	0.27989	0.878000	0.50629	2.175000	0.42491	0.819000	0.34492	-1.268000	0.01426	TCT	PDE4B	-	NULL	ENSG00000184588		0.527	PDE4B-001	KNOWN	basic|CCDS	protein_coding	PDE4B	HGNC	protein_coding	OTTHUMT00000025188.3	29	0.00	0	C	NM_002600		66798131	66798131	+1	no_errors	ENST00000371045	ensembl	human	known	69_37n	missense	27	12.90	4	SNP	0.240	A
PIP	5304	genome.wustl.edu	37	7	142829239	142829239	+	Silent	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:142829239C>T	ENST00000291009.3	+	1	70	c.30C>T	c.(28-30)gcC>gcT	p.A10A		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGTTCAGGGCCAGCCCTGCCA	0.552																																						dbGAP											0													221.0	213.0	216.0					7																	142829239		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.30C>T	7.37:g.142829239C>T			A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.A10	ENST00000291009.3	37	c.30	CCDS34768.1	7																																																																																			PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.552	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	19	0.00	0	C	NM_002652		142829239	142829239	+1	no_errors	ENST00000291009	ensembl	human	known	69_37n	silent	23	37.84	14	SNP	0.000	T
PIP	5304	genome.wustl.edu	37	7	142829239	142829239	+	Silent	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr7:142829239C>T	ENST00000291009.3	+	1	70	c.30C>T	c.(28-30)gcC>gcT	p.A10A		NM_002652.2	NP_002643.1	P12273	PIP_HUMAN	prolactin-induced protein	10					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of T cell apoptotic process (GO:0070233)|positive regulation of gene expression (GO:0010628)|proteolysis (GO:0006508)|regulation of immune system process (GO:0002682)|retina homeostasis (GO:0001895)	apical plasma membrane (GO:0016324)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	actin binding (GO:0003779)|aspartic-type endopeptidase activity (GO:0004190)|glycoprotein binding (GO:0001948)|IgG binding (GO:0019864)|protein dimerization activity (GO:0046983)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		TGTTCAGGGCCAGCCCTGCCA	0.552																																						dbGAP											0													221.0	213.0	216.0					7																	142829239		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS34768.1	7q34	2013-09-19			ENSG00000159763	ENSG00000159763			8993	protein-coding gene	gene with protein product	"""prolactin-inducible protein"""	176720				2727805, 1955075	Standard	NM_002652		Approved	GCDFP-15, GCDFP15, GPIP4	uc003wcf.1	P12273	OTTHUMG00000152635	ENST00000291009.3:c.30C>T	7.37:g.142829239C>T			A0A963|A0A9C3|A0A9F3|A4D2I1	Silent	SNP	pfam_SV_autoAg,pirsf_SV_autoAg	p.A10	ENST00000291009.3	37	c.30	CCDS34768.1	7																																																																																			PIP	-	pfam_SV_autoAg,pirsf_SV_autoAg	ENSG00000159763		0.552	PIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP	HGNC	protein_coding	OTTHUMT00000327089.1	19	0.00	0	C	NM_002652		142829239	142829239	+1	no_errors	ENST00000291009	ensembl	human	known	69_37n	silent	30	33.33	15	SNP	0.000	T
PIPSL	266971	genome.wustl.edu	37	10	95720748	95720748	+	RNA	SNP	C	C	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr10:95720748C>T	ENST00000480546.1	-	0	549					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ATGAACTCATCGTCGCTGGAC	0.483																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720748C>T			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.483	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	58	0.00	0	C	NR_002319		95720748	95720748	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	65	23.53	20	SNP	1.000	T
PIPSL	266971	genome.wustl.edu	37	10	95720748	95720748	+	RNA	SNP	C	C	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr10:95720748C>T	ENST00000480546.1	-	0	549					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										ATGAACTCATCGTCGCTGGAC	0.483																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720748C>T			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.483	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	58	0.00	0	C	NR_002319		95720748	95720748	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	94	20.34	24	SNP	1.000	T
PKD1L2	114780	genome.wustl.edu	37	16	81213324	81213324	+	RNA	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr16:81213324C>A	ENST00000527937.1	-	0	244				PKD1L2_ENST00000531391.1_RNA|PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000337114.4_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGAGGTGTTGCTCTGGAGGAG	0.577																																						dbGAP											0													79.0	83.0	82.0					16																	81213324		1974	4150	6124	-	-	-			0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81213324C>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like	p.S729I	ENST00000527937.1	37	c.2186		16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.57|12.57	1.977056|1.977056	0.34848|0.34848	.|.	.|.	ENSG00000166473|ENSG00000166473	ENST00000526632|ENST00000531391;ENST00000337114;ENST00000527937	.|T;T;T	.|0.71103	.|-0.54;-0.54;2.0	5.02|5.02	4.06|4.06	0.47325|0.47325	.|Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	.|0.453593	.|0.25233	.|N	.|0.032160	T|T	0.79173|0.79173	0.4401|0.4401	.|.	.|.	.|.	0.21290|0.21290	N|N	0.99973|0.99973	.|D;P;B	.|0.76494	.|0.999;0.616;0.347	.|D;P;B	.|0.65010	.|0.931;0.502;0.432	T|T	0.69654|0.69654	-0.5087|-0.5087	4|9	.|0.87932	.|D	.|0	-15.4549|-15.4549	9.9937|9.9937	0.41887|0.41887	0.0:0.9052:0.0:0.0948|0.0:0.9052:0.0:0.0948	.|.	.|44;729;729	.|Q7Z442-6;Q7Z442-3;Q7Z442	.|.;.;PK1L2_HUMAN	D|I	256|44;729;44	.|ENSP00000436309:S44I;ENSP00000337397:S729I;ENSP00000432818:S44I	.|ENSP00000337397:S729I	E|S	-|-	3|2	2|0	PKD1L2|PKD1L2	79770825|79770825	1.000000|1.000000	0.71417|0.71417	0.410000|0.410000	0.26471|0.26471	0.009000|0.009000	0.06853|0.06853	1.112000|1.112000	0.31172|0.31172	2.340000|2.340000	0.79590|0.79590	0.462000|0.462000	0.41574|0.41574	GAG|AGC	PKD1L2	-	pfam_PKD/REJ-like,pfscan_REJ-like	ENSG00000166473		0.577	PKD1L2-007	KNOWN	basic|exp_conf	protein_coding	PKD1L2	HGNC	polymorphic_pseudogene	OTTHUMT00000387978.1	42	0.00	0	C			81213324	81213324	-1	no_errors	ENST00000337114	ensembl	human	known	69_37n	missense	36	12.20	5	SNP	0.702	A
PLCL1	5334	genome.wustl.edu	37	2	198953775	198953775	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:198953775C>A	ENST00000428675.1	+	3	3307	c.2909C>A	c.(2908-2910)gCt>gAt	p.A970D	PLCL1_ENST00000437704.2_Missense_Mutation_p.A872D	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	970					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATGCTGACTGCTTATGATCTG	0.428																																						dbGAP											0													110.0	114.0	113.0					2																	198953775		2203	4300	6503	-	-	-	SO:0001583	missense	0			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2909C>A	2.37:g.198953775C>A	ENSP00000402861:p.Ala970Asp		Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.A970D	ENST00000428675.1	37	c.2909	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703781	0.88924	.	.	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.18174	2.23;2.25	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000017	T	0.31575	0.0801	M	0.72118	2.19	0.58432	D	0.999999	D;P	0.54772	0.968;0.937	P;P	0.49561	0.615;0.615	T	0.03268	-1.1054	9	.	.	.	.	18.7752	0.91908	0.0:1.0:0.0:0.0	.	970;896	Q15111;B4DYZ4	PLCL1_HUMAN;.	D	970;872	ENSP00000402861:A970D;ENSP00000414138:A872D	.	A	+	2	0	PLCL1	198662020	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	5.875000	0.69660	2.661000	0.90470	0.650000	0.86243	GCT	PLCL1	-	NULL	ENSG00000115896		0.428	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	HGNC	protein_coding	OTTHUMT00000340210.1	48	0.00	0	C	NM_006226		198953775	198953775	+1	no_errors	ENST00000428675	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	A
POLR2C	5432	genome.wustl.edu	37	16	57504903	57504903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr16:57504903G>T	ENST00000219252.5	+	9	1038	c.700G>T	c.(700-702)Gag>Tag	p.E234*		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	234					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CTACAATGTGGAGTCCTGTGG	0.527																																						dbGAP											0													123.0	111.0	115.0					16																	57504903		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.700G>T	16.37:g.57504903G>T	ENSP00000219252:p.Glu234*		O15161	Nonsense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.E234*	ENST00000219252.5	37	c.700	CCDS10782.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.743134	0.98465	.	.	ENSG00000102978	ENST00000219252	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5726	0.91142	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000219252:E234X	E	+	1	0	POLR2C	56062404	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.357000	0.97099	2.619000	0.88677	0.655000	0.94253	GAG	POLR2C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000102978		0.527	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	50	0.00	0	G	NM_032940		57504903	57504903	+1	no_errors	ENST00000219252	ensembl	human	known	69_37n	nonsense	63	10.00	7	SNP	1.000	T
POLR2C	5432	genome.wustl.edu	37	16	57504903	57504903	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr16:57504903G>T	ENST00000219252.5	+	9	1038	c.700G>T	c.(700-702)Gag>Tag	p.E234*		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	234					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CTACAATGTGGAGTCCTGTGG	0.527																																						dbGAP											0													123.0	111.0	115.0					16																	57504903		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.700G>T	16.37:g.57504903G>T	ENSP00000219252:p.Glu234*		O15161	Nonsense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_insert,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.E234*	ENST00000219252.5	37	c.700	CCDS10782.1	16	.	.	.	.	.	.	.	.	.	.	G	39	7.743134	0.98465	.	.	ENSG00000102978	ENST00000219252	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.5726	0.91142	0.0:0.0:1.0:0.0	.	.	.	.	X	234	.	ENSP00000219252:E234X	E	+	1	0	POLR2C	56062404	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	9.357000	0.97099	2.619000	0.88677	0.655000	0.94253	GAG	POLR2C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	ENSG00000102978		0.527	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2C	HGNC	protein_coding	OTTHUMT00000257340.3	50	0.00	0	G	NM_032940		57504903	57504903	+1	no_errors	ENST00000219252	ensembl	human	known	69_37n	nonsense	74	12.94	11	SNP	1.000	T
PRAME	23532	genome.wustl.edu	37	22	22890545	22890545	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr22:22890545delC	ENST00000398741.1	-	6	1780	c.1474delG	c.(1474-1476)gacfs	p.D492fs	PRAME_ENST00000539862.1_Frame_Shift_Del_p.D476fs|PRAME_ENST00000405655.3_Frame_Shift_Del_p.D492fs|PRAME_ENST00000398743.2_Frame_Shift_Del_p.D492fs|PRAME_ENST00000424204.2_Frame_Shift_Del_p.D476fs|PRAME_ENST00000485532.1_5'Flank|PRAME_ENST00000543184.1_Frame_Shift_Del_p.D492fs|PRAME_ENST00000402697.1_Frame_Shift_Del_p.D492fs	NM_206955.1	NP_996838.1	P78395	PRAME_HUMAN	preferentially expressed antigen in melanoma	492	Mediates interaction with RARA.				apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	retinoic acid receptor binding (GO:0042974)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		AAGGTTCTGTCCCCACAGTGA	0.557																																					Melanoma(73;1707 1838 15168 27201)	dbGAP											0													144.0	138.0	140.0					22																	22890545		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			U65011	CCDS13801.1	22q11.22	2013-01-17			ENSG00000185686	ENSG00000185686		"""-"""	9336	protein-coding gene	gene with protein product	"""cancer/testis antigen 130"""	606021		MAPE		9047241, 10591208	Standard	XM_006725402		Approved	CT130	uc002zwj.3	P78395	OTTHUMG00000151172	ENST00000398741.1:c.1474delG	22.37:g.22890545delC	ENSP00000381726:p.Asp492fs		B2R6Y7|O43481|Q8IXN8	Frame_Shift_Del	DEL	NULL	p.D492fs	ENST00000398741.1	37	c.1474	CCDS13801.1	22																																																																																			PRAME	-	NULL	ENSG00000185686		0.557	PRAME-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAME	HGNC	protein_coding	OTTHUMT00000321644.1	27	0.00	0	C	NM_206953		22890545	22890545	-1	no_errors	ENST00000398741	ensembl	human	known	69_37n	frame_shift_del	18	10.00	2	DEL	0.003	-
PRAMEF4	400735	genome.wustl.edu	37	1	12939659	12939659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:12939659delC	ENST00000235349.5	-	4	1213	c.1143delG	c.(1141-1143)gagfs	p.E381fs		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	381					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGTTGAGCTCAAAGCAGC	0.507																																						dbGAP											0													82.0	84.0	83.0					1																	12939659		1497	2675	4172	-	-	-	SO:0001589	frameshift_variant	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1143delG	1.37:g.12939659delC	ENSP00000235349:p.Glu381fs		Q5LJB5	Frame_Shift_Del	DEL	NULL	p.E381fs	ENST00000235349.5	37	c.1143	CCDS30592.1	1																																																																																			PRAMEF4	-	NULL	ENSG00000243073		0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	72	0.00	0	C	NM_001009611		12939659	12939659	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	frame_shift_del	76	33.06	40	DEL	0.021	-
PRAMEF4	400735	genome.wustl.edu	37	1	12939659	12939659	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:12939659delC	ENST00000235349.5	-	4	1213	c.1143delG	c.(1141-1143)gagfs	p.E381fs		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	381					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGGTGTTGAGCTCAAAGCAGC	0.507																																						dbGAP											0													82.0	84.0	83.0					1																	12939659		1497	2675	4172	-	-	-	SO:0001589	frameshift_variant	0				CCDS30592.1	1p36.21	2013-01-17			ENSG00000243073	ENSG00000243073		"""-"""	31971	protein-coding gene	gene with protein product							Standard	NM_001009611		Approved	RP5-845O24.6	uc001aun.2	O60810	OTTHUMG00000001987	ENST00000235349.5:c.1143delG	1.37:g.12939659delC	ENSP00000235349:p.Glu381fs		Q5LJB5	Frame_Shift_Del	DEL	NULL	p.E381fs	ENST00000235349.5	37	c.1143	CCDS30592.1	1																																																																																			PRAMEF4	-	NULL	ENSG00000243073		0.507	PRAMEF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF4	HGNC	protein_coding	OTTHUMT00000005518.1	72	0.00	0	C	NM_001009611		12939659	12939659	-1	no_errors	ENST00000235349	ensembl	human	known	69_37n	frame_shift_del	120	24.54	40	DEL	0.021	-
PTEN	5728	genome.wustl.edu	37	10	89690810	89690811	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr10:89690810_89690811delGA	ENST00000371953.3	+	4	1574_1575	c.217_218delGA	c.(217-219)gaafs	p.E73fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	73	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73*(1)|p.E73V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGTTGTGCTGAAAGACATTAT	0.307		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	59	Whole gene deletion(37)|Deletion - Frameshift(14)|Unknown(6)|Substitution - Nonsense(1)|Substitution - Missense(1)	prostate(16)|central_nervous_system(14)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.217_218delGA	10.37:g.89690810_89690811delGA	ENSP00000361021:p.Glu73fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E73fs	ENST00000371953.3	37	c.217_218	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.307	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	42	0.00	0	GA	NM_000314		89690810	89690811	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_del	46	38.75	31	DEL	1.000:1.000	-
PTEN	5728	genome.wustl.edu	37	10	89690810	89690811	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr10:89690810_89690811delGA	ENST00000371953.3	+	4	1574_1575	c.217_218delGA	c.(217-219)gaafs	p.E73fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	73	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.E73*(1)|p.E73V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGTTGTGCTGAAAGACATTAT	0.307		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	59	Whole gene deletion(37)|Deletion - Frameshift(14)|Unknown(6)|Substitution - Nonsense(1)|Substitution - Missense(1)	prostate(16)|central_nervous_system(14)|breast(6)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.217_218delGA	10.37:g.89690810_89690811delGA	ENSP00000361021:p.Glu73fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.E73fs	ENST00000371953.3	37	c.217_218	CCDS31238.1	10																																																																																			PTEN	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.307	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	42	0.00	0	GA	NM_000314		89690810	89690811	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_del	24	33.33	13	DEL	1.000:1.000	-
RBM41	55285	genome.wustl.edu	37	X	106310811	106310811	+	Silent	SNP	C	C	G			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chrX:106310811C>G	ENST00000372479.3	-	7	1218	c.1188G>C	c.(1186-1188)gcG>gcC	p.A396A	RBM41_ENST00000372487.1_Silent_p.A396A	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	396							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAGAGAAGTCGCTTGGAGAT	0.378																																						dbGAP											0													221.0	208.0	212.0					X																	106310811		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006986	CCDS14526.1, CCDS55472.1	Xq22.3	2013-02-12			ENSG00000089682	ENSG00000089682		"""RNA binding motif (RRM) containing"""	25617	protein-coding gene	gene with protein product						12477932	Standard	NM_001171080		Approved	FLJ11016	uc004emz.3	Q96IZ5	OTTHUMG00000022156	ENST00000372479.3:c.1188G>C	X.37:g.106310811C>G			Q5JSN7|Q5JSN8|Q9H8F7|Q9NV04	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A396	ENST00000372479.3	37	c.1188	CCDS14526.1	X																																																																																			RBM41	-	NULL	ENSG00000089682		0.378	RBM41-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM41	HGNC	protein_coding	OTTHUMT00000057819.1	52	0.00	0	C	NM_018301		106310811	106310811	-1	no_errors	ENST00000372479	ensembl	human	known	69_37n	silent	141	14.55	24	SNP	0.000	G
RFC1	5981	genome.wustl.edu	37	4	39347084	39347084	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr4:39347084G>A	ENST00000381897.1	-	3	278	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	RFC1_ENST00000349703.2_Missense_Mutation_p.R49C|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	49					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCTCTTTACGGGAGCTATTT	0.318																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													94.0	90.0	91.0					4																	39347084		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.145C>T	4.37:g.39347084G>A	ENSP00000371321:p.Arg49Cys		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.R49C	ENST00000381897.1	37	c.145	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	g	9.907	1.208432	0.22205	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.34072	1.38;1.38	5.26	1.46	0.22682	.	0.896444	0.09961	N	0.733495	T	0.08891	0.0220	N	0.00436	-1.5	0.23669	N	0.997159	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22941	-1.0202	10	0.38643	T	0.18	0.6268	0.8167	0.01104	0.49:0.1663:0.1834:0.1603	.	49;49	P35251;P35251-2	RFC1_HUMAN;.	C	49;49;21	ENSP00000371321:R49C;ENSP00000261424:R49C	ENSP00000261424:R49C	R	-	1	0	RFC1	39023479	0.041000	0.20044	0.981000	0.43875	0.874000	0.50279	-0.230000	0.09083	0.379000	0.24794	-0.391000	0.06502	CGT	RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.318	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	71	0.00	0	G	NM_002913		39347084	39347084	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	missense	53	19.40	13	SNP	0.753	A
RFC1	5981	genome.wustl.edu	37	4	39347084	39347084	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr4:39347084G>A	ENST00000381897.1	-	3	278	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	RFC1_ENST00000349703.2_Missense_Mutation_p.R49C|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	49					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TCCTCTTTACGGGAGCTATTT	0.318																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	dbGAP											0													94.0	90.0	91.0					4																	39347084		2203	4300	6503	-	-	-	SO:0001583	missense	0			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.145C>T	4.37:g.39347084G>A	ENSP00000371321:p.Arg49Cys		A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom	p.R49C	ENST00000381897.1	37	c.145	CCDS56329.1	4	.	.	.	.	.	.	.	.	.	.	g	9.907	1.208432	0.22205	.	.	ENSG00000035928	ENST00000381897;ENST00000349703;ENST00000503784	T;T	0.34072	1.38;1.38	5.26	1.46	0.22682	.	0.896444	0.09961	N	0.733495	T	0.08891	0.0220	N	0.00436	-1.5	0.23669	N	0.997159	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.22941	-1.0202	10	0.38643	T	0.18	0.6268	0.8167	0.01104	0.49:0.1663:0.1834:0.1603	.	49;49	P35251;P35251-2	RFC1_HUMAN;.	C	49;49;21	ENSP00000371321:R49C;ENSP00000261424:R49C	ENSP00000261424:R49C	R	-	1	0	RFC1	39023479	0.041000	0.20044	0.981000	0.43875	0.874000	0.50279	-0.230000	0.09083	0.379000	0.24794	-0.391000	0.06502	CGT	RFC1	-	pirsf_DNA_replication_fac_C_lsu	ENSG00000035928		0.318	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RFC1	HGNC	protein_coding	OTTHUMT00000216808.1	71	0.00	0	G	NM_002913		39347084	39347084	-1	no_errors	ENST00000381897	ensembl	human	known	69_37n	missense	120	20.00	30	SNP	0.753	A
RIN3	79890	genome.wustl.edu	37	14	93119104	93119105	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr14:93119104_93119105insC	ENST00000216487.7	+	6	1869_1870	c.1710_1711insC	c.(1711-1713)cccfs	p.P571fs	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	571					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TGAAGAAGAAGCCCTCCATGAT	0.594																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1713dupC	14.37:g.93119107_93119107dupC	ENSP00000216487:p.Pro571fs		Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Frame_Shift_Ins	INS	pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9	p.S571fs	ENST00000216487.7	37	c.1710_1711	CCDS32144.1	14																																																																																			RIN3	-	NULL	ENSG00000100599		0.594	RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN3	HGNC	protein_coding	OTTHUMT00000412269.1	26	0.00	0	-			93119104	93119105	+1	no_errors	ENST00000216487	ensembl	human	known	69_37n	frame_shift_ins	10	16.67	2	INS	0.604:0.346	C
RNF213	57674	genome.wustl.edu	37	17	78263481	78263481	+	Missense_Mutation	SNP	C	C	A	rs368929895		TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:78263481C>A	ENST00000582970.1	+	6	1100	c.957C>A	c.(955-957)gaC>gaA	p.D319E	RNF213_ENST00000508628.2_Missense_Mutation_p.D368E|RNF213_ENST00000319921.4_Missense_Mutation_p.D319E|RNF213_ENST00000456466.1_Missense_Mutation_p.D319E	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	319					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGACCAAGGACGAGATGGCTG	0.483																																						dbGAP											0													58.0	64.0	62.0					17																	78263481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.957C>A	17.37:g.78263481C>A	ENSP00000464087:p.Asp319Glu		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.D319E	ENST00000582970.1	37	c.957	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	8.396	0.840880	0.16891	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	T;T	0.40756	1.02;1.02	4.4	0.973	0.19710	.	37.415900	0.00972	U	0.003258	T	0.39009	0.1062	L	0.34521	1.04	0.09310	N	1	P;D	0.56035	0.901;0.974	P;P	0.52481	0.653;0.7	T	0.36866	-0.9730	10	0.09338	T	0.73	-5.5628	3.6648	0.08252	0.1659:0.5729:0.162:0.0992	.	319;319	Q9HCF4;Q9HCF4-2	ALO17_HUMAN;.	E	319;368;319;319	ENSP00000392123:D319E;ENSP00000324392:D319E	ENSP00000324392:D319E	D	+	3	2	RNF213	75878076	0.000000	0.05858	0.000000	0.03702	0.071000	0.16799	-0.148000	0.10219	0.400000	0.25396	-0.244000	0.11960	GAC	RNF213	-	NULL	ENSG00000173821		0.483	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	41	0.00	0	C	NM_020914		78263481	78263481	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	62	11.43	8	SNP	0.000	A
SERPINA7	6906	genome.wustl.edu	37	X	105278233	105278233	+	Missense_Mutation	SNP	A	A	T	rs113057755		TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chrX:105278233A>T	ENST00000327674.4	-	3	1372	c.1037T>A	c.(1036-1038)cTt>cAt	p.L346H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L346H|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	346					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TACATTGGAAAGTTTCAGACC	0.363																																						dbGAP											0													78.0	69.0	72.0					X																	105278233		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1037T>A	X.37:g.105278233A>T	ENSP00000329374:p.Leu346His		D3DUX1	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.L346H	ENST00000327674.4	37	c.1037	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988862	0.53934	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.86366	-2.11;-2.11	4.84	3.66	0.41972	Serpin domain (3);	0.386929	0.21674	N	0.070826	D	0.93782	0.8012	M	0.91140	3.18	0.33003	D	0.526531	D	0.76494	0.999	D	0.81914	0.995	D	0.94337	0.7567	10	0.87932	D	0	.	9.3517	0.38142	0.8217:0.1783:0.0:0.0	.	346	P05543	THBG_HUMAN	H	346	ENSP00000329374:L346H;ENSP00000361644:L346H	ENSP00000329374:L346H	L	-	2	0	SERPINA7	105164889	1.000000	0.71417	0.996000	0.52242	0.685000	0.39939	5.493000	0.66899	0.617000	0.30160	-0.354000	0.07668	CTT	SERPINA7	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000123561		0.363	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	36	0.00	0	A	NM_000354		105278233	105278233	-1	no_errors	ENST00000327674	ensembl	human	known	69_37n	missense	30	26.83	11	SNP	1.000	T
SERPINA7	6906	genome.wustl.edu	37	X	105278233	105278233	+	Missense_Mutation	SNP	A	A	T	rs113057755		TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chrX:105278233A>T	ENST00000327674.4	-	3	1372	c.1037T>A	c.(1036-1038)cTt>cAt	p.L346H	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L346H|SERPINA7_ENST00000487487.1_5'UTR			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	346					aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TACATTGGAAAGTTTCAGACC	0.363																																						dbGAP											0													78.0	69.0	72.0					X																	105278233		2203	4300	6503	-	-	-	SO:0001583	missense	0			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000327674.4:c.1037T>A	X.37:g.105278233A>T	ENSP00000329374:p.Leu346His		D3DUX1	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom,prints_Prot_inh_Lserp2	p.L346H	ENST00000327674.4	37	c.1037	CCDS14518.1	X	.	.	.	.	.	.	.	.	.	.	A	15.97	2.988862	0.53934	.	.	ENSG00000123561	ENST00000327674;ENST00000372563	D;D	0.86366	-2.11;-2.11	4.84	3.66	0.41972	Serpin domain (3);	0.386929	0.21674	N	0.070826	D	0.93782	0.8012	M	0.91140	3.18	0.33003	D	0.526531	D	0.76494	0.999	D	0.81914	0.995	D	0.94337	0.7567	10	0.87932	D	0	.	9.3517	0.38142	0.8217:0.1783:0.0:0.0	.	346	P05543	THBG_HUMAN	H	346	ENSP00000329374:L346H;ENSP00000361644:L346H	ENSP00000329374:L346H	L	-	2	0	SERPINA7	105164889	1.000000	0.71417	0.996000	0.52242	0.685000	0.39939	5.493000	0.66899	0.617000	0.30160	-0.354000	0.07668	CTT	SERPINA7	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000123561		0.363	SERPINA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057790.1	36	0.00	0	A	NM_000354		105278233	105278233	-1	no_errors	ENST00000327674	ensembl	human	known	69_37n	missense	71	21.98	20	SNP	1.000	T
SLC15A2	6565	genome.wustl.edu	37	3	121616242	121616243	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	GA	GA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr3:121616242_121616243delGA	ENST00000489711.1	+	3	589_590	c.201_202delGA	c.(199-204)ctgatcfs	p.I68fs	SLC15A2_ENST00000295605.2_Frame_Shift_Del_p.I68fs	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	68					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CAGCTGTGCTGATCCTGTATTT	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.201_202delGA	3.37:g.121616242_121616243delGA	ENSP00000417085:p.Ile68fs		A8K1A5|B4E2A7	Frame_Shift_Del	DEL	pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport	p.I68fs	ENST00000489711.1	37	c.201_202	CCDS3007.1	3																																																																																			SLC15A2	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_Pep_H_symport	ENSG00000163406		0.411	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	23	0.00	0	GA	NM_021082		121616242	121616243	+1	no_errors	ENST00000489711	ensembl	human	known	69_37n	frame_shift_del	21	17.50	7	DEL	1.000:1.000	-
SLC17A7	57030	genome.wustl.edu	37	19	49935885	49935885	+	Silent	SNP	G	G	C			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr19:49935885G>C	ENST00000221485.3	-	9	1212	c.1041C>G	c.(1039-1041)ccC>ccG	p.P347P	SLC17A7_ENST00000600601.1_Silent_p.P280P|SLC17A7_ENST00000543531.1_Silent_p.P335P	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	347					glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGACCAGGTGGGGCAGCGCGG	0.672																																						dbGAP											0													33.0	32.0	32.0					19																	49935885		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7		ENST00000221485.3:c.1041C>G	19.37:g.49935885G>C			B4DFR9|B4DG46|Q6PCD0	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P347	ENST00000221485.3	37	c.1041	CCDS12764.1	19																																																																																			SLC17A7	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000104888		0.672	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A7	HGNC	protein_coding	OTTHUMT00000465367.2	14	0.00	0	G			49935885	49935885	-1	no_errors	ENST00000221485	ensembl	human	known	69_37n	silent	23	23.33	7	SNP	0.603	C
SLC6A10P	386757	genome.wustl.edu	37	16	32893876	32893876	+	RNA	SNP	T	T	C	rs375167306	byFrequency	TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr16:32893876T>C	ENST00000330048.5	-	0	1381					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		GACAGGGGACTGGCGGTCAGC	0.612													.|||	1546	0.308706	0.4402	0.1988	5008	,	,		27697	0.2063		0.2624	False		,,,				2504	0.362					dbGAP											0																																										-	-	-			0			U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32893876T>C				RNA	SNP	-	NULL	ENST00000330048.5	37	NULL		16																																																																																			SLC6A10P	-	-	ENSG00000214617		0.612	SLC6A10P-002	KNOWN	basic	processed_transcript	SLC6A10P	HGNC	pseudogene	OTTHUMT00000432081.2	13	0.00	0	T			32893876	32893876	-1	no_errors	ENST00000330048	ensembl	human	known	69_37n	rna	29	35.56	16	SNP	0.959	C
SMAD9	4093	genome.wustl.edu	37	13	37453577	37453577	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr13:37453577G>A	ENST00000399275.2	-	1	389	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SMAD9_ENST00000379826.4_Missense_Mutation_p.R84C|SMAD9_ENST00000350148.5_Missense_Mutation_p.R84C|SMAD9_ENST00000483941.1_5'Flank			O15198	SMAD9_HUMAN	SMAD family member 9	84	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGGCCCTTGCGGTGGGACACC	0.657																																						dbGAP											0													37.0	41.0	40.0					13																	37453577		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.250C>T	13.37:g.37453577G>A	ENSP00000382216:p.Arg84Cys		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R84C	ENST00000399275.2	37	c.250	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907640	0.72868	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.78595	-1.19;-1.19;-1.19	5.53	4.66	0.58398	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.92647	0.6129	10	0.87932	D	0	.	14.8853	0.70564	0.0:0.0:0.8564:0.1436	.	84;84	O15198-2;O15198	.;SMAD9_HUMAN	C	84	ENSP00000382216:R84C;ENSP00000239885:R84C;ENSP00000369154:R84C	ENSP00000239885:R84C	R	-	1	0	SMAD9	36351577	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	3.755000	0.55197	2.599000	0.87857	0.563000	0.77884	CGC	SMAD9	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000120693		0.657	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	17	0.00	0	G	NM_005905		37453577	37453577	-1	no_errors	ENST00000379826	ensembl	human	known	69_37n	missense	29	35.56	16	SNP	1.000	A
SMAD9	4093	genome.wustl.edu	37	13	37453577	37453577	+	Missense_Mutation	SNP	G	G	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr13:37453577G>A	ENST00000399275.2	-	1	389	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SMAD9_ENST00000379826.4_Missense_Mutation_p.R84C|SMAD9_ENST00000350148.5_Missense_Mutation_p.R84C|SMAD9_ENST00000483941.1_5'Flank			O15198	SMAD9_HUMAN	SMAD family member 9	84	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				BMP signaling pathway (GO:0030509)|bone development (GO:0060348)|cartilage development (GO:0051216)|cellular response to organic cyclic compound (GO:0071407)|hindbrain development (GO:0030902)|intracellular signal transduction (GO:0035556)|midbrain development (GO:0030901)|Mullerian duct regression (GO:0001880)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|response to hypoxia (GO:0001666)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ureteric bud development (GO:0001657)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity (GO:0030618)			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGGCCCTTGCGGTGGGACACC	0.657																																						dbGAP											0													37.0	41.0	40.0					13																	37453577		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS9360.1, CCDS45032.1	13q12-q14	2014-09-17	2006-11-06	2004-05-26	ENSG00000120693	ENSG00000120693		"""SMADs"""	6774	protein-coding gene	gene with protein product		603295	"""MAD, mothers against decapentaplegic homolog 9 (Drosophila)"", ""SMAD, mothers against DPP homolog 9 (Drosophila)"""	MADH6, MADH9		9205116	Standard	NM_001127217		Approved		uc001uvw.3	O15198	OTTHUMG00000016740	ENST00000399275.2:c.250C>T	13.37:g.37453577G>A	ENSP00000382216:p.Arg84Cys		A2A2Y6|O14989|Q5TBA1	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.R84C	ENST00000399275.2	37	c.250	CCDS45032.1	13	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907640	0.72868	.	.	ENSG00000120693	ENST00000399275;ENST00000350148;ENST00000379826	T;T;T	0.78595	-1.19;-1.19;-1.19	5.53	4.66	0.58398	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (2);	0.000000	0.85682	D	0.000000	D	0.90508	0.7026	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.982	D	0.92647	0.6129	10	0.87932	D	0	.	14.8853	0.70564	0.0:0.0:0.8564:0.1436	.	84;84	O15198-2;O15198	.;SMAD9_HUMAN	C	84	ENSP00000382216:R84C;ENSP00000239885:R84C;ENSP00000369154:R84C	ENSP00000239885:R84C	R	-	1	0	SMAD9	36351577	1.000000	0.71417	1.000000	0.80357	0.576000	0.36127	3.755000	0.55197	2.599000	0.87857	0.563000	0.77884	CGC	SMAD9	-	pfam_MAD_homology1_Dwarfin-type,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1	ENSG00000120693		0.657	SMAD9-002	KNOWN	basic|CCDS	protein_coding	SMAD9	HGNC	protein_coding	OTTHUMT00000044525.2	17	0.00	0	G	NM_005905		37453577	37453577	-1	no_errors	ENST00000379826	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	A
CAPN15	6650	genome.wustl.edu	37	16	597208	597208	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr16:597208G>T	ENST00000219611.2	+	4	733	c.370G>T	c.(370-372)Gag>Tag	p.E124*	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	124	Glu-rich.				proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GGGGCAGTGCgaggacaagga	0.706																																						dbGAP											0																																										-	-	-	SO:0001587	stop_gained	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.370G>T	16.37:g.597208G>T	ENSP00000219611:p.Glu124*		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Nonsense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.E124*	ENST00000219611.2	37	c.370	CCDS10410.1	16	.	.	.	.	.	.	.	.	.	.	g	15.95	2.985118	0.53934	.	.	ENSG00000103326	ENST00000219611;ENST00000397687	.	.	.	4.68	0.348	0.16026	.	6.014410	0.00824	U	0.001607	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	11.6014	0.51006	0.2602:0.0:0.7398:0.0	.	.	.	.	X	124	.	ENSP00000219611:E124X	E	+	1	0	SOLH	537209	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.674000	0.25218	-0.010000	0.14271	-2.392000	0.00227	GAG	SOLH	-	NULL	ENSG00000103326		0.706	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOLH	HGNC	protein_coding	OTTHUMT00000239271.1	9	0.00	0	G	NM_005632		597208	597208	+1	no_errors	ENST00000219611	ensembl	human	known	69_37n	nonsense	7	36.36	4	SNP	0.001	T
STX2	2054	genome.wustl.edu	37	12	131306288	131306288	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr12:131306288C>G	ENST00000392373.2	-	3	245	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	STX2_ENST00000261653.6_Missense_Mutation_p.E51Q	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	51					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TTTACTTCTTCAACATATTGA	0.388																																						dbGAP											0													204.0	182.0	189.0					12																	131306288		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.151G>C	12.37:g.131306288C>G	ENSP00000376178:p.Glu51Gln		Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E51Q	ENST00000392373.2	37	c.151	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082143	0.76528	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.20200	2.09;2.09	4.48	4.48	0.54585	t-SNARE (1);Syntaxin, N-terminal (2);	0.106321	0.64402	D	0.000006	T	0.37652	0.1011	L	0.58925	1.835	0.42674	D	0.993524	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.63033	0.91;0.91;0.899	T	0.04400	-1.0954	10	0.23891	T	0.37	-12.2177	15.0451	0.71822	0.0:1.0:0.0:0.0	.	51;51;51	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	Q	51	ENSP00000261653:E51Q;ENSP00000376178:E51Q	ENSP00000261653:E51Q	E	-	1	0	STX2	129872241	1.000000	0.71417	0.052000	0.19188	0.255000	0.26057	5.589000	0.67523	2.494000	0.84150	0.655000	0.94253	GAA	STX2	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000111450		0.388	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	95	0.00	0	C	NM_194356		131306288	131306288	-1	no_errors	ENST00000392373	ensembl	human	known	69_37n	missense	53	20.90	14	SNP	0.734	G
STX2	2054	genome.wustl.edu	37	12	131306288	131306288	+	Missense_Mutation	SNP	C	C	G			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr12:131306288C>G	ENST00000392373.2	-	3	245	c.151G>C	c.(151-153)Gaa>Caa	p.E51Q	STX2_ENST00000261653.6_Missense_Mutation_p.E51Q	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	51					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TTTACTTCTTCAACATATTGA	0.388																																						dbGAP											0													204.0	182.0	189.0					12																	131306288		2203	4300	6503	-	-	-	SO:0001583	missense	0			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.151G>C	12.37:g.131306288C>G	ENSP00000376178:p.Glu51Gln		Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.E51Q	ENST00000392373.2	37	c.151	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	C	21.0	4.082143	0.76528	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.20200	2.09;2.09	4.48	4.48	0.54585	t-SNARE (1);Syntaxin, N-terminal (2);	0.106321	0.64402	D	0.000006	T	0.37652	0.1011	L	0.58925	1.835	0.42674	D	0.993524	D;D;D	0.76494	0.999;0.999;0.993	D;D;P	0.63033	0.91;0.91;0.899	T	0.04400	-1.0954	10	0.23891	T	0.37	-12.2177	15.0451	0.71822	0.0:1.0:0.0:0.0	.	51;51;51	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	Q	51	ENSP00000261653:E51Q;ENSP00000376178:E51Q	ENSP00000261653:E51Q	E	-	1	0	STX2	129872241	1.000000	0.71417	0.052000	0.19188	0.255000	0.26057	5.589000	0.67523	2.494000	0.84150	0.655000	0.94253	GAA	STX2	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N	ENSG00000111450		0.388	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	95	0.00	0	C	NM_194356		131306288	131306288	-1	no_errors	ENST00000392373	ensembl	human	known	69_37n	missense	128	25.15	43	SNP	0.734	G
TMEM104	54868	genome.wustl.edu	37	17	72832376	72832376	+	Silent	SNP	C	C	T	rs144943526		TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:72832376C>T	ENST00000335464.5	+	10	1203	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.V347V	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	347						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCTGTGACGTCGTGGGCCTGG	0.612													c|||	1	0.000199681	0.0	0.0	5008	,	,		18587	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													295.0	232.0	253.0					17																	72832376		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1041C>T	17.37:g.72832376C>T			Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.V347	ENST00000335464.5	37	c.1041	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM	ENSG00000109066		0.612	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	37	0.00	0	C	NM_017728		72832376	72832376	+1	no_errors	ENST00000335464	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	0.496	T
TMEM131	23505	genome.wustl.edu	37	2	98451125	98451125	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:98451125G>T	ENST00000186436.5	-	10	1199	c.971C>A	c.(970-972)tCc>tAc	p.S324Y	TMEM131_ENST00000425805.2_Missense_Mutation_p.S275Y	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	324						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TTCAGTTGAGGAATAAATTCC	0.294																																						dbGAP											0													35.0	31.0	32.0					2																	98451125		1783	4056	5839	-	-	-	SO:0001583	missense	0			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.971C>A	2.37:g.98451125G>T	ENSP00000186436:p.Ser324Tyr			Missense_Mutation	SNP	pfam_DUF3651_TMEM131	p.S324Y	ENST00000186436.5	37	c.971	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345828	0.82022	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	T	0.35236	1.32	5.5	5.5	0.81552	PapD-like (1);	0.000000	0.85682	D	0.000000	T	0.62036	0.2395	M	0.70275	2.135	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.60510	-0.7249	10	0.49607	T	0.09	-13.4419	19.76	0.96311	0.0:0.0:1.0:0.0	.	324	Q92545	TM131_HUMAN	Y	324;275	ENSP00000186436:S324Y	ENSP00000186436:S324Y	S	-	2	0	TMEM131	97817557	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.752000	0.94435	0.650000	0.86243	TCC	TMEM131	-	NULL	ENSG00000075568		0.294	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	41	0.00	0	G	XM_371542		98451125	98451125	-1	no_errors	ENST00000186436	ensembl	human	known	69_37n	missense	50	10.71	6	SNP	1.000	T
TMEM165	55858	genome.wustl.edu	37	4	56283411	56283412	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr4:56283411_56283412delAG	ENST00000381334.5	+	3	839_840	c.606_607delAG	c.(604-609)gaagaafs	p.EE202fs	TMEM165_ENST00000514904.1_3'UTR|TMEM165_ENST00000506198.1_Intron|TMEM165_ENST00000542052.1_Frame_Shift_Del_p.EE139fs	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	202					cellular calcium ion homeostasis (GO:0006874)|Golgi calcium ion transport (GO:0032472)|protein N-linked glycosylation (GO:0006487)|regulation of lysosomal lumen pH (GO:0035751)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|trans-Golgi network membrane (GO:0032588)				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			AGAAAGATGAAGAAGTAAGCCA	0.441																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF183409	CCDS3499.1	4q12	2014-03-13			ENSG00000134851	ENSG00000134851			30760	protein-coding gene	gene with protein product	"""TPA regulated locus"""	614726				3202867, 22683087, 23575229	Standard	NM_018475		Approved	TMPT27, TPARL, GDT1	uc003hax.3	Q9HC07	OTTHUMG00000128735	ENST00000381334.5:c.606_607delAG	4.37:g.56283411_56283412delAG	ENSP00000370736:p.Glu202fs		A8K3P8|B4DHW1|Q9BTN9|Q9NZ34	Frame_Shift_Del	DEL	pfam_UPF0016	p.E203fs	ENST00000381334.5	37	c.606_607	CCDS3499.1	4																																																																																			TMEM165	-	NULL	ENSG00000134851		0.441	TMEM165-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM165	HGNC	protein_coding	OTTHUMT00000250646.4	29	0.00	0	AG	NM_018475		56283411	56283412	+1	no_errors	ENST00000381334	ensembl	human	known	69_37n	frame_shift_del	17	10.53	2	DEL	1.000:1.000	-
TNFAIP6	7130	genome.wustl.edu	37	2	152236039	152236039	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:152236039C>A	ENST00000243347.3	+	6	901	c.826C>A	c.(826-828)Cac>Aac	p.H276N		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	276					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|inflammatory response (GO:0006954)|signal transduction (GO:0007165)		hyaluronic acid binding (GO:0005540)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)	Hyaluronan(DB08818)	AAGATTTAGCCACTTATAAAA	0.294																																						dbGAP											0													34.0	40.0	38.0					2																	152236039		2199	4300	6499	-	-	-	SO:0001583	missense	0				CCDS2193.1	2q23.3	2008-11-18			ENSG00000123610	ENSG00000123610			11898	protein-coding gene	gene with protein product		600410				1730767, 8568267, 15060082	Standard	NM_007115		Approved	TSG6, TSG-6	uc002txk.3	P98066	OTTHUMG00000131884	ENST00000243347.3:c.826C>A	2.37:g.152236039C>A	ENSP00000243347:p.His276Asn		Q53TI7|Q8WWI9	Missense_Mutation	SNP	pfam_CUB,pfam_Link,superfamily_CUB,superfamily_C-type_lectin_fold,smart_Link,smart_CUB,pfscan_CUB,pfscan_Link,prints_Link	p.H276N	ENST00000243347.3	37	c.826	CCDS2193.1	2	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178531	0.38511	.	.	ENSG00000123610	ENST00000243347	T	0.18502	2.21	5.56	4.67	0.58626	.	0.225743	0.34777	N	0.003697	T	0.09730	0.0239	N	0.24115	0.695	0.25878	N	0.983624	P	0.43826	0.818	B	0.32211	0.142	T	0.13926	-1.0491	10	0.36615	T	0.2	.	11.8111	0.52183	0.383:0.617:0.0:0.0	.	276	P98066	TSG6_HUMAN	N	276	ENSP00000243347:H276N	ENSP00000243347:H276N	H	+	1	0	TNFAIP6	151944285	0.996000	0.38824	0.996000	0.52242	0.077000	0.17291	1.637000	0.37155	1.290000	0.44636	0.655000	0.94253	CAC	TNFAIP6	-	NULL	ENSG00000123610		0.294	TNFAIP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFAIP6	HGNC	protein_coding	OTTHUMT00000254834.2	28	0.00	0	C	NM_007115		152236039	152236039	+1	no_errors	ENST00000243347	ensembl	human	known	69_37n	missense	10	28.57	4	SNP	0.998	A
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(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.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49.0	49.0	49.0					17																	7578403		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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		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.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	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	32	0.00	0	C	NM_000546		7578403	7578403	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	18	28.00	7	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A			TCGA-A7-A26F-01A-21D-A167-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	fc73db72-d0ac-48d0-b809-2f7540482ec5	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:7578403C>A	ENST00000269305.4	-	5	716	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F|TP53_ENST00000420246.2_Missense_Mutation_p.C176F	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	176	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:8829627, ECO:0000269|PubMed:9450901}.|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation).|CP -> FS (in a sporadic cancer; 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.C176F(129)|p.C176Y(63)|p.C83F(9)|p.C44F(9)|p.C176S(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.C44Y(3)|p.C83Y(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(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.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.C176del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H178fs*3(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)	ATGGTGGGGGCAGCGCCTCAC	0.652		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"""	267	Substitution - Missense(224)|Deletion - Frameshift(18)|Deletion - In frame(13)|Whole gene deletion(8)|Complex - deletion inframe(3)|Insertion - Frameshift(1)	lung(42)|large_intestine(38)|upper_aerodigestive_tract(36)|oesophagus(26)|breast(26)|liver(20)|ovary(19)|haematopoietic_and_lymphoid_tissue(13)|stomach(10)|central_nervous_system(9)|bone(9)|urinary_tract(7)|genital_tract(2)|skin(2)|pancreas(2)|prostate(2)|adrenal_gland(1)|vulva(1)|biliary_tract(1)|endometrium(1)											49.0	49.0	49.0					17																	7578403		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.527G>T	17.37:g.7578403C>A	ENSP00000269305:p.Cys176Phe		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.C176F	ENST00000269305.4	37	c.527	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433429	0.83776	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99982	-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61;-10.61	5.59	4.61	0.57282	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.092184	0.85682	D	0.000000	D	0.99981	0.9994	M	0.92923	3.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.91635	0.999;0.994;0.996;0.998;0.997;0.995;0.997	D	0.96187	0.9135	10	0.87932	D	0	-18.1821	13.8336	0.63395	0.1543:0.8457:0.0:0.0	.	137;176;176;83;176;176;176	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	176;176;176;176;176;176;165;83;44;83;44	ENSP00000410739:C176F;ENSP00000352610:C176F;ENSP00000269305:C176F;ENSP00000398846:C176F;ENSP00000391127:C176F;ENSP00000391478:C176F;ENSP00000425104:C44F;ENSP00000423862:C83F	ENSP00000269305:C176F	C	-	2	0	TP53	7519128	1.000000	0.71417	0.999000	0.59377	0.851000	0.48451	7.775000	0.85489	1.472000	0.48140	0.655000	0.94253	TGC	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	32	0.00	0	C	NM_000546		7578403	7578403	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	32	30.43	14	SNP	1.000	A
VEZF1	7716	genome.wustl.edu	37	17	56056604	56056605	+	In_Frame_Ins	INS	-	-	TGC	rs61731354|rs57786397|rs138088904|rs369163670	byFrequency	TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr17:56056604_56056605insTGC	ENST00000581208.1	-	5	1086_1087	c.1046_1047insGCA	c.(1045-1047)caa>caGCAa	p.349_349Q>QQ	VEZF1_ENST00000584396.1_In_Frame_Ins_p.340_340Q>QQ	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	349	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						gttgttgttgttgctgctgctg	0.465																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046dupGCA	17.37:g.56056611_56056613dupTGC	ENSP00000462337:p.Gln354dup			In_Frame_Ins	INS	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.353in_frame_insQ	ENST00000581208.1	37	c.1047_1046	CCDS32687.1	17																																																																																			VEZF1	-	NULL	ENSG00000136451		0.465	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VEZF1	HGNC	protein_coding	OTTHUMT00000443321.1	56	0.00	0	-			56056604	56056605	-1	no_errors	ENST00000581208	ensembl	human	known	69_37n	in_frame_ins	58	17.14	12	INS	0.934:0.940	TGC
ZBTB40	9923	genome.wustl.edu	37	1	22817082	22817082	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr1:22817082delC	ENST00000375647.4	+	2	848	c.641delC	c.(640-642)tccfs	p.S214fs	ZBTB40_ENST00000404138.1_Frame_Shift_Del_p.S214fs|ZBTB40_ENST00000374651.4_Frame_Shift_Del_p.S214fs	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	214					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		GAAGCTTGTTCCCCCTCCCCT	0.473																																						dbGAP											0													54.0	61.0	59.0					1																	22817082		2195	4296	6491	-	-	-	SO:0001589	frameshift_variant	0			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.641delC	1.37:g.22817082delC	ENSP00000364798:p.Ser214fs		O75066|Q5TFU5|Q8N1R1	Frame_Shift_Del	DEL	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S216fs	ENST00000375647.4	37	c.641	CCDS224.1	1																																																																																			ZBTB40	-	NULL	ENSG00000184677		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	12	0.00	0	C	NM_014870		22817082	22817082	+1	no_errors	ENST00000375647	ensembl	human	known	69_37n	frame_shift_del	9	18.18	2	DEL	0.005	-
ZNF638	27332	genome.wustl.edu	37	2	71651095	71651095	+	Missense_Mutation	SNP	G	G	T			TCGA-A7-A26F-01B-04D-A22N-09	TCGA-A7-A26F-10A-01D-A167-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	7923054e-1127-4d95-b439-10098d49cb58	7d94bbca-3e31-4a95-819a-def4981d43e8	g.chr2:71651095G>T	ENST00000409544.1	+	22	5081	c.4451G>T	c.(4450-4452)aGa>aTa	p.R1484I	ZNF638_ENST00000409407.1_Missense_Mutation_p.R424I|ZNF638_ENST00000355812.3_Intron|ZNF638_ENST00000264447.4_Missense_Mutation_p.R1484I	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1484					regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGGATTACAGAGATATAACA	0.458																																						dbGAP											0													56.0	54.0	55.0					2																	71651095		2203	4300	6503	-	-	-	SO:0001583	missense	0			D83032	CCDS1917.1	2p13.1	2013-02-12	2004-07-29	2004-07-30	ENSG00000075292	ENSG00000075292		"""RNA binding motif (RRM) containing"""	17894	protein-coding gene	gene with protein product		614349	"""zinc finger, matrin-like"""	ZFML		8647861	Standard	NM_014497		Approved	NP220, MGC26130, Zfp638	uc002shy.3	Q14966	OTTHUMG00000129735	ENST00000409544.1:c.4451G>T	2.37:g.71651095G>T	ENSP00000386433:p.Arg1484Ile		B5MDV1|B7ZLD1|Q53R34|Q5XJ05|Q68DP3|Q6P2H2|Q7Z3T7|Q8NF92|Q8TCA1|Q9H2G1|Q9NP37	Missense_Mutation	SNP	pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom	p.R1484I	ENST00000409544.1	37	c.4451	CCDS1917.1	2	.	.	.	.	.	.	.	.	.	.	G	17.46	3.395520	0.62066	.	.	ENSG00000075292	ENST00000264447;ENST00000409544;ENST00000409407;ENST00000462695	T;T;T	0.39229	1.09;1.09;1.49	5.29	3.28	0.37604	.	0.251362	0.28104	N	0.016581	T	0.35038	0.0918	L	0.32530	0.975	0.80722	D	1	P;P;P	0.48911	0.917;0.729;0.895	P;B;P	0.47470	0.451;0.372;0.548	T	0.09751	-1.0660	10	0.66056	D	0.02	-2.3727	6.3194	0.21208	0.301:0.0:0.699:0.0	.	1484;1484;1484	A8K583;Q14966-3;Q14966	.;.;ZN638_HUMAN	I	1484;1484;424;424	ENSP00000264447:R1484I;ENSP00000386433:R1484I;ENSP00000386813:R424I	ENSP00000264447:R1484I	R	+	2	0	ZNF638	71504603	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	2.304000	0.43655	0.436000	0.26393	0.563000	0.77884	AGA	ZNF638	-	NULL	ENSG00000075292		0.458	ZNF638-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF638	HGNC	protein_coding	OTTHUMT00000327431.1	23	0.00	0	G	NM_014497		71651095	71651095	+1	no_errors	ENST00000264447	ensembl	human	known	69_37n	missense	15	21.05	4	SNP	1.000	T
