#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
ALLC	55821	genome.wustl.edu	37	2	3729305	3729305	+	Splice_Site	SNP	T	T	C			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr2:3729305T>C	ENST00000252505.3	+	6	540		c.e6+2			NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase						allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)	p.?(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ATTGCTGAGGTACATCTCCCC	0.498										HNSCC(21;0.051)																												dbGAP											1	Unknown(1)	breast(1)											55.0	59.0	58.0					2																	3729305		1941	4134	6075	-	-	-	SO:0001630	splice_region_variant	0			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.378+2T>C	2.37:g.3729305T>C			Q53T95|Q5RL81|Q96RE6|Q9NZA7	Splice_Site	SNP	-	e5+2	ENST00000252505.3	37	c.378+2	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	T	9.423	1.083614	0.20309	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.221	0.48855	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALLC	3707180	0.997000	0.39634	0.883000	0.34634	0.021000	0.10359	2.940000	0.49003	2.206000	0.71126	0.528000	0.53228	.	ALLC	-	-	ENSG00000151360		0.498	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	134	0.00	0	T		Intron	3729305	3729305	+1	no_errors	ENST00000252505	ensembl	human	known	69_37n	splice_site	73	16.09	14	SNP	0.953	C
ANKRD2	26287	genome.wustl.edu	37	10	99337563	99337563	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr10:99337563C>T	ENST00000307518.5	+	2	442	c.175C>T	c.(175-177)Cga>Tga	p.R59*	ANKRD2_ENST00000298808.5_Nonsense_Mutation_p.R59*|ANKRD2_ENST00000455090.1_Nonsense_Mutation_p.R32*|ANKRD2_ENST00000370655.1_Nonsense_Mutation_p.R32*			Q9GZV1	ANKR2_HUMAN	ankyrin repeat domain 2 (stretch responsive muscle)	59	May mediate interaction with PML, p53/TP53 and YBX1.				muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|skeletal muscle cell differentiation (GO:0035914)	cytosol (GO:0005829)|euchromatin (GO:0000791)|I band (GO:0031674)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	protein kinase B binding (GO:0043422)|structural constituent of muscle (GO:0008307)	p.R59*(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7		all_hematologic(284;1.95e-06)|Colorectal(252;0.0163)		Epithelial(162;1.18e-94)|all cancers(201;9.31e-86)|BRCA - Breast invasive adenocarcinoma(275;0.0233)|STAD - Stomach adenocarcinoma(243;0.181)|KIRC - Kidney renal clear cell carcinoma(50;0.206)|Kidney(138;0.241)		CCAGAAACTCCGAGGAGACGC	0.607																																						dbGAP											1	Substitution - Nonsense(1)	breast(1)											41.0	30.0	34.0					10																	99337563		2195	4284	6479	-	-	-	SO:0001587	stop_gained	0			AJ304805	CCDS7466.1, CCDS44468.1	10q23	2013-01-10			ENSG00000165887	ENSG00000165887		"""Ankyrin repeat domain containing"""	495	protein-coding gene	gene with protein product		610734				10873377, 15136035, 15677738	Standard	NM_001129981		Approved	ARPP	uc001knw.3	Q9GZV1	OTTHUMG00000018860	ENST00000307518.5:c.175C>T	10.37:g.99337563C>T	ENSP00000306163:p.Arg59*		Q3B778|Q5T456|Q70EZ9|Q8WUD7|Q96MG0|Q9NQC9	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R59*	ENST00000307518.5	37	c.175	CCDS7466.1	10	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491235	0.84962	.	.	ENSG00000165887	ENST00000307518;ENST00000298808;ENST00000370655;ENST00000455090	.	.	.	4.65	4.65	0.58169	.	0.905221	0.09244	N	0.828791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.0141	11.8177	0.52220	0.1749:0.8251:0.0:0.0	.	.	.	.	X	59;59;32;32	.	ENSP00000298808:R59X	R	+	1	2	ANKRD2	99327553	0.373000	0.25073	0.305000	0.25099	0.262000	0.26303	1.596000	0.36718	2.406000	0.81754	0.561000	0.74099	CGA	ANKRD2	-	NULL	ENSG00000165887		0.607	ANKRD2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD2	HGNC	protein_coding		27	0.00	0	C			99337563	99337563	+1	no_errors	ENST00000307518	ensembl	human	known	69_37n	nonsense	24	22.58	7	SNP	0.160	T
DPH6	89978	genome.wustl.edu	37	15	35814394	35814394	+	Intron	SNP	G	G	A			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr15:35814394G>A	ENST00000256538.4	-	3	339				DPH6_ENST00000440392.2_Missense_Mutation_p.A133V	NM_080650.3	NP_542381.1	Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)	p.A133V(1)									GTAAACAATCGCCTGGCTGCC	0.408																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	76.0	79.0					15																	35814394		1566	3580	5146	-	-	-	SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000256538.4:c.312+16080C>T	15.37:g.35814394G>A			B3KWG1|Q96HJ6	Missense_Mutation	SNP	pfam_DUF71_ATP-bd_dom	p.A133V	ENST00000256538.4	37	c.398	CCDS10043.1	15	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559176	0.65538	.	.	ENSG00000134146	ENST00000440392	T	0.50001	0.76	4.96	4.96	0.65561	.	.	.	.	.	T	0.68924	0.3054	.	.	.	0.54753	D	0.999981	D	0.89917	1.0	D	0.69479	0.964	T	0.73424	-0.3987	8	0.87932	D	0	.	16.5688	0.84606	0.0:0.0:1.0:0.0	.	133	B3KWG1	.	V	133	ENSP00000406976:A133V	ENSP00000406976:A133V	A	-	2	0	ATPBD4	33601686	0.996000	0.38824	0.999000	0.59377	0.996000	0.88848	1.945000	0.40273	2.580000	0.87095	0.655000	0.94253	GCG	ATPBD4	-	NULL	ENSG00000134146		0.408	DPH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATPBD4	HGNC	protein_coding	OTTHUMT00000251973.1	163	0.00	0	G	NM_080650		35814394	35814394	-1	no_errors	ENST00000440392	ensembl	human	known	69_37n	missense	48	25.00	16	SNP	1.000	A
CD164	8763	genome.wustl.edu	37	6	109703447	109703448	+	In_Frame_Ins	INS	-	-	GCCGAG			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr6:109703447_109703448insGCCGAG	ENST00000310786.4	-	1	199_200	c.134_135insCTCGGC	c.(133-135)gcg>gcCTCGGCg	p.45_45A>ASA	CD164_ENST00000324953.5_In_Frame_Ins_p.45_45A>ASA|CD164_ENST00000275080.7_In_Frame_Ins_p.45_45A>ASA|RP11-425D10.10_ENST00000563105.1_RNA|CD164_ENST00000504373.1_5'Flank|CD164_ENST00000368961.5_In_Frame_Ins_p.45_45A>ASA|CD164_ENST00000512821.1_In_Frame_Ins_p.45_45A>ASA|CD164_ENST00000506649.1_5'Flank|CD164_ENST00000413644.2_In_Frame_Ins_p.45_45A>ASA	NM_001142404.1|NM_006016.4	NP_001135876.1|NP_006007.2	Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	45					cell adhesion (GO:0007155)|hemopoiesis (GO:0030097)|heterophilic cell-cell adhesion (GO:0007157)|immune response (GO:0006955)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|signal transduction (GO:0007165)	endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.A45_P46insSA(1)		breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		ACGTCACCGGCGCCGAGGTTAC	0.708																																						dbGAP											1	Insertion - In frame(1)	breast(1)																																								-	-	-	SO:0001652	inframe_insertion	0			AF106518	CCDS5073.1, CCDS47462.1, CCDS47463.1, CCDS47464.1, CCDS47465.1	6q21	2014-09-05	2006-03-28		ENSG00000135535	ENSG00000135535		"""CD molecules"""	1632	protein-coding gene	gene with protein product		603356	"""CD164 antigen, sialomucin"""			9680353, 9763543	Standard	NM_006016		Approved	MUC-24, MGC-24	uc003pte.3	Q04900	OTTHUMG00000015339	ENST00000310786.4:c.129_134dupCTCGGC	6.37:g.109703448_109703453dupGCCGAG	ENSP00000309376:p.SerAla45dup		B4DQ85|E1P5E7|E1P5E8|E1P5E9|O95413|Q5JSU6|Q9BPV0|Q9NR26	In_Frame_Ins	INS	pfam_CD164_MGC24,prints_CD164_MGC24	p.46in_frame_insSA	ENST00000310786.4	37	c.135_134	CCDS5073.1	6																																																																																			CD164	-	pfam_CD164_MGC24	ENSG00000135535		0.708	CD164-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD164	HGNC	protein_coding	OTTHUMT00000041742.1	56	0.00	0	-	NM_006016		109703447	109703448	-1	no_errors	ENST00000310786	ensembl	human	known	69_37n	in_frame_ins	24	11.11	3	INS	0.002:0.000	GCCGAG
CEP128	145508	genome.wustl.edu	37	14	81223281	81223282	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr14:81223281_81223282insC	ENST00000555265.1	-	18	2942_2943	c.2567_2568insG	c.(2566-2568)ggtfs	p.G856fs	CEP128_ENST00000281129.3_Frame_Shift_Ins_p.G856fs			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	856						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.P857fs*2(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						GTATATCAGGACCAGATGAAAA	0.302																																						dbGAP											1	Insertion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.2568dupG	14.37:g.81223283_81223283dupC	ENSP00000451162:p.Gly856fs		B9EK52|Q86X97|Q96ML4	Frame_Shift_Ins	INS	NULL	p.P857fs	ENST00000555265.1	37	c.2568_2567	CCDS32130.1	14																																																																																			CEP128	-	NULL	ENSG00000100629		0.302	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	152	0.00	0	-	NM_152446		81223281	81223282	-1	no_errors	ENST00000281129	ensembl	human	known	69_37n	frame_shift_ins	98	19.01	23	INS	0.512:0.495	C
COL7A1	1294	genome.wustl.edu	37	3	48629346	48629346	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr3:48629346A>G	ENST00000328333.8	-	10	1449	c.1342T>C	c.(1342-1344)Tgg>Cgg	p.W448R	COL7A1_ENST00000454817.1_Missense_Mutation_p.W448R	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	448	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.W448R(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACGCCGCCATTCCAACCGG	0.632																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	74.0	71.0					3																	48629346		2203	4300	6503	-	-	-	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.1342T>C	3.37:g.48629346A>G	ENSP00000332371:p.Trp448Arg		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.W448R	ENST00000328333.8	37	c.1342	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	A	11.34	1.609079	0.28623	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57752	0.38;0.38	4.44	4.44	0.53790	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.39909	N	0.001221	T	0.70762	0.3261	M	0.79123	2.44	0.41254	D	0.986734	D	0.89917	1.0	D	0.91635	0.999	T	0.72874	-0.4160	10	0.42905	T	0.14	.	12.5955	0.56468	1.0:0.0:0.0:0.0	.	448	Q02388	CO7A1_HUMAN	R	448	ENSP00000332371:W448R;ENSP00000412569:W448R	ENSP00000332371:W448R	W	-	1	0	COL7A1	48604350	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.100000	0.64560	1.779000	0.52309	0.379000	0.24179	TGG	COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.632	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	92	0.00	0	A	NM_000094		48629346	48629346	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	missense	56	22.22	16	SNP	1.000	G
CXorf65	158830	genome.wustl.edu	37	X	70324242	70324242	+	Missense_Mutation	SNP	A	A	G			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chrX:70324242A>G	ENST00000374251.5	-	5	380	c.332T>C	c.(331-333)aTa>aCa	p.I111T		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65	111								p.I111T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						ATCACATTGTATGCGCAGTGC	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											63.0	47.0	53.0					X																	70324242		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC144434	CCDS35324.1	Xq13.1	2009-03-06			ENSG00000204165	ENSG00000204165			33713	protein-coding gene	gene with protein product							Standard	NM_001025265		Approved		uc011mpo.2	A6NEN9	OTTHUMG00000021785	ENST00000374251.5:c.332T>C	X.37:g.70324242A>G	ENSP00000363369:p.Ile111Thr			Missense_Mutation	SNP	NULL	p.I111T	ENST00000374251.5	37	c.332	CCDS35324.1	X	.	.	.	.	.	.	.	.	.	.	A	1.014	-0.687058	0.03328	.	.	ENSG00000204165	ENST00000374251;ENST00000438526	T;T	0.41400	1.0;1.0	3.91	3.0	0.34707	.	0.694197	0.14066	N	0.343706	T	0.10937	0.0267	N	0.00621	-1.32	0.20926	N	0.999825	B	0.06786	0.001	B	0.04013	0.001	T	0.33137	-0.9880	10	0.02654	T	1	-6.5579	6.6896	0.23163	0.1381:0.0:0.8619:0.0	.	111	A6NEN9	CX065_HUMAN	T	111	ENSP00000363369:I111T;ENSP00000411354:I111T	ENSP00000363369:I111T	I	-	2	0	CXorf65	70240967	0.970000	0.33590	0.988000	0.46212	0.390000	0.30446	1.864000	0.39469	0.775000	0.33450	-0.233000	0.12211	ATA	CXorf65	-	NULL	ENSG00000204165		0.468	CXorf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf65	HGNC	protein_coding	OTTHUMT00000057089.2	81	0.00	0	A	NM_001025265		70324242	70324242	-1	no_errors	ENST00000374251	ensembl	human	known	69_37n	missense	141	20.79	37	SNP	0.731	G
DIO2	1734	genome.wustl.edu	37	14	80672615	80672619	+	Frame_Shift_Del	DEL	TATAA	TATAA	-			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	TATAA	TATAA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr14:80672615_80672619delTATAA	ENST00000555750.1	-	2	312_316	c.285_289delTTATA	c.(283-291)gcttataaafs	p.YK96fs	DIO2_ENST00000422005.3_Intron|DIO2_ENST00000438257.4_Intron|DIO2_ENST00000557010.1_Intron|DIO2_ENST00000557125.1_Intron	NM_001007023.3	NP_001007024.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	74					cellular nitrogen compound metabolic process (GO:0034641)|hormone biosynthetic process (GO:0042446)|selenocysteine incorporation (GO:0001514)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|thyroid hormone metabolic process (GO:0042403)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	selenium binding (GO:0008430)|thyroxine 5'-deiodinase activity (GO:0004800)|ubiquitin protein ligase binding (GO:0031625)	p.Y96fs*18(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGTCTGCTTTTATAAGCTTCATATA	0.288																																						dbGAP											1	Deletion - Frameshift(1)	breast(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF007144	CCDS45146.1, CCDS55934.1	14q24.2-q24.3	2014-05-02			ENSG00000211448	ENSG00000211448	1.97.1.10		2884	protein-coding gene	gene with protein product	"""thyroxine deiodinase, type II"", ""deiodonase-2"", ""deiodinase-2"""	601413				8755651, 10343107	Standard	NM_001007023		Approved	TXDI2, SelY	uc021rxb.1	Q92813	OTTHUMG00000171443	ENST00000555750.1:c.285_289delTTATA	14.37:g.80672615_80672619delTATAA	ENSP00000450980:p.Tyr96fs		B9EGK0|G3V315|Q6B0A3|Q9HCP8|Q9P1W4|Q9UDZ1	Frame_Shift_Del	DEL	pfam_Iodothyronine_deiodinase,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold	p.Y96fs	ENST00000555750.1	37	c.289_285	CCDS55934.1	14																																																																																			DIO2	-	NULL	ENSG00000211448		0.288	DIO2-003	KNOWN	basic|CCDS|seleno	protein_coding	DIO2	HGNC	protein_coding	OTTHUMT00000413752.1	234	0.00	0	TATAA			80672615	80672619	-1	pseudogene	ENST00000555750	ensembl	human	known	69_37n	frame_shift_del	160	20.67	43	DEL	0.034:0.001:0.001:0.000:0.001	-
GBP6	163351	genome.wustl.edu	37	1	89844123	89844123	+	Missense_Mutation	SNP	C	C	A			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr1:89844123C>A	ENST00000370456.4	+	5	669	c.576C>A	c.(574-576)caC>caA	p.H192Q	GBP6_ENST00000535065.1_Missense_Mutation_p.H62Q	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	192	GB1/RHD3-type G.|GTPase domain (Globular). {ECO:0000250}.				cellular response to interferon-gamma (GO:0071346)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)	extracellular vesicular exosome (GO:0070062)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.H192Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		TGAACGGTCACCCTATCACAG	0.493																																						dbGAP											1	Substitution - Missense(1)	breast(1)											119.0	123.0	122.0					1																	89844123		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX537949	CCDS723.1	1p22	2008-02-05			ENSG00000183347	ENSG00000183347			25395	protein-coding gene	gene with protein product		612467					Standard	NM_198460		Approved	DKFZp686G0786	uc001dnf.2	Q6ZN66	OTTHUMG00000010123	ENST00000370456.4:c.576C>A	1.37:g.89844123C>A	ENSP00000359485:p.His192Gln		A2RRM3|Q6ZN86|Q7Z3F0	Missense_Mutation	SNP	pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C	p.H192Q	ENST00000370456.4	37	c.576	CCDS723.1	1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.037917	0.00402	.	.	ENSG00000183347	ENST00000544311;ENST00000370456;ENST00000535065	T;T	0.73047	-0.71;-0.71	4.97	-6.97	0.01616	Guanylate-binding protein, N-terminal (1);	1.026010	0.07733	N	0.945626	T	0.18718	0.0449	L	0.28649	0.875	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.11817	-1.0572	10	0.02654	T	1	2.5569	2.54	0.04723	0.099:0.2304:0.2299:0.4407	.	192	Q6ZN66	GBP6_HUMAN	Q	163;192;62	ENSP00000359485:H192Q;ENSP00000442530:H62Q	ENSP00000359485:H192Q	H	+	3	2	GBP6	89616711	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.217000	0.01220	-1.312000	0.02306	-0.966000	0.02617	CAC	GBP6	-	pfam_Guanylate-bd_N	ENSG00000183347		0.493	GBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBP6	HGNC	protein_coding	OTTHUMT00000028001.1	188	0.00	0	C	NM_198460		89844123	89844123	+1	no_errors	ENST00000370456	ensembl	human	known	69_37n	missense	105	26.39	38	SNP	0.000	A
FMN2	56776	genome.wustl.edu	37	1	240492411	240492411	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr1:240492411G>C	ENST00000319653.9	+	9	4481	c.4251G>C	c.(4249-4251)aaG>aaC	p.K1417N	FMN2_ENST00000545751.1_Missense_Mutation_p.K13N	NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1417	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)	p.K1560N(1)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			AAATAGAAAAGCATGGCCGAT	0.413																																						dbGAP											1	Substitution - Missense(1)	breast(1)											102.0	99.0	100.0					1																	240492411		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.4251G>C	1.37:g.240492411G>C	ENSP00000318884:p.Lys1417Asn		B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.K1417N	ENST00000319653.9	37	c.4251	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696248	0.48202	.	.	ENSG00000155816	ENST00000319653;ENST00000441342;ENST00000545751;ENST00000537355	T;T;T	0.63255	0.97;-0.03;0.97	5.68	2.82	0.32997	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.64402	D	0.000004	T	0.67050	0.2852	L	0.35593	1.075	0.80722	D	1	P;B;D;P	0.89917	0.942;0.079;1.0;0.563	P;B;D;B	0.91635	0.658;0.105;0.999;0.355	T	0.65651	-0.6116	10	0.62326	D	0.03	.	10.2311	0.43256	0.3268:0.0:0.6732:0.0	.	13;63;46;1417	B4DP05;F5H2C1;B4DN09;Q9NZ56	.;.;.;FMN2_HUMAN	N	1417;63;13;44	ENSP00000318884:K1417N;ENSP00000388922:K63N;ENSP00000437918:K13N	ENSP00000318884:K1417N	K	+	3	2	FMN2	238559034	1.000000	0.71417	0.995000	0.50966	0.526000	0.34562	1.257000	0.32932	0.345000	0.23873	0.655000	0.94253	AAG	FMN2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	ENSG00000155816		0.413	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	130	0.00	0	G	XM_371352		240492411	240492411	+1	no_errors	ENST00000319653	ensembl	human	known	69_37n	missense	141	14.97	25	SNP	1.000	C
GOLGA6L1	283767	genome.wustl.edu	37	15	22743097	22743097	+	Missense_Mutation	SNP	G	G	C			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr15:22743097G>C	ENST00000560659.2	+	8	1332	c.1332G>C	c.(1330-1332)gaG>gaC	p.E444D	GOLGA6L1_ENST00000316397.3_Missense_Mutation_p.E494D			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	488								p.E494D(1)		NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						ggaagcaggaggagaaggtgt	0.552																																						dbGAP											1	Substitution - Missense(1)	breast(1)											4.0	3.0	3.0					15																	22743097		997	1429	2426	-	-	-	SO:0001583	missense	0			AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.1332G>C	15.37:g.22743097G>C	ENSP00000452626:p.Glu444Asp			Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.E494D	ENST00000560659.2	37	c.1482		15	.	.	.	.	.	.	.	.	.	.	.	4.746	0.138734	0.09083	.	.	ENSG00000197414	ENST00000316397;ENST00000355145	T	0.11930	2.73	.	.	.	.	.	.	.	.	T	0.10680	0.0261	L	0.36672	1.1	0.09310	N	1	.	.	.	.	.	.	T	0.39333	-0.9619	5	0.21014	T	0.42	.	.	.	.	.	.	.	.	D	494	ENSP00000320207:E494D	ENSP00000320207:E494D	E	+	3	2	GOLGA6L1	20294461	0.011000	0.17503	0.086000	0.20670	0.087000	0.18053	0.865000	0.27940	0.149000	0.19098	0.152000	0.16155	GAG	GOLGA6L1	-	NULL	ENSG00000197414		0.552	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	GOLGA6L1	HGNC	protein_coding	OTTHUMT00000415616.2	369	0.00	0	G	NM_001001413		22743097	22743097	+1	no_errors	ENST00000316397	ensembl	human	known	69_37n	missense	46	24.19	15	SNP	0.098	C
HLA-B	3106	genome.wustl.edu	37	6	31322932	31322933	+	Frame_Shift_Ins	INS	-	-	AG	rs41555623		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr6:31322932_31322933insAG	ENST00000412585.2	-	5	991_992	c.963_964insCT	c.(961-966)gtggtcfs	p.V322fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	322					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCTCCGATGACCACAACTGCTA	0.604									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.963_964insCT	6.37:g.31322932_31322933insAG	ENSP00000399168:p.Val322fs		Q29764	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.V321fs	ENST00000412585.2	37	c.964_963	CCDS34394.1	6																																																																																			HLA-B	-	NULL	ENSG00000234745		0.604	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	40	0.00	0	-	NM_005514		31322932	31322933	-1	no_errors	ENST00000412585	ensembl	human	known	69_37n	frame_shift_ins	38	11.63	5	INS	0.000:0.000	AG
HLA-B	3106	genome.wustl.edu	37	6	31322933	31322934	+	Frame_Shift_Ins	INS	-	-	T	rs41555623		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr6:31322933_31322934insT	ENST00000412585.2	-	5	990_991	c.962_963insA	c.(961-963)gtgfs	p.V321fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	321					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CTCCGATGACCACAACTGCTAG	0.609									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.962_963insA	6.37:g.31322933_31322934insT	ENSP00000399168:p.Val321fs		Q29764	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.V322fs	ENST00000412585.2	37	c.963_962	CCDS34394.1	6																																																																																			HLA-B	-	NULL	ENSG00000234745		0.609	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	41	0.00	0	-	NM_005514		31322933	31322934	-1	no_errors	ENST00000412585	ensembl	human	known	69_37n	frame_shift_ins	39	11.36	5	INS	0.000:0.000	T
IARS2	55699	genome.wustl.edu	37	1	220269535	220269535	+	Silent	SNP	C	C	T			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr1:220269535C>T	ENST00000302637.5	+	2	461	c.357C>T	c.(355-357)aaC>aaT	p.N119N	IARS2_ENST00000366922.1_Silent_p.N47N	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	119					gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)	p.N119N(1)		NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	CTTATGCAAACGGTGACCCTC	0.313																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											83.0	79.0	80.0					1																	220269535		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.357C>T	1.37:g.220269535C>T			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	Silent	SNP	pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	p.N119	ENST00000302637.5	37	c.357	CCDS1523.1	1																																																																																			IARS2	-	pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt	ENSG00000067704		0.313	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		233	0.00	0	C	NM_018060		220269535	220269535	+1	no_errors	ENST00000302637	ensembl	human	known	69_37n	silent	134	16.15	26	SNP	0.999	T
LRRK1	79705	genome.wustl.edu	37	15	101565085	101565085	+	Silent	SNP	G	G	A			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr15:101565085G>A	ENST00000388948.3	+	16	2504	c.2145G>A	c.(2143-2145)acG>acA	p.T715T	LRRK1_ENST00000284395.5_Silent_p.T712T	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1									p.T727T(1)|p.T715T(1)		breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTTCTTCACGGACAAGGCCC	0.612																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											137.0	149.0	145.0					15																	101565085		2041	4188	6229	-	-	-	SO:0001819	synonymous_variant	0			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.2145G>A	15.37:g.101565085G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom	p.T715	ENST00000388948.3	37	c.2145	CCDS42086.1	15																																																																																			LRRK1	-	pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase	ENSG00000154237		0.612	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	HGNC	protein_coding	OTTHUMT00000384567.2	67	0.00	0	G	NM_024652		101565085	101565085	+1	no_errors	ENST00000388948	ensembl	human	known	69_37n	silent	26	22.86	8	SNP	0.018	A
MUC12	10071	genome.wustl.edu	37	7	100645121	100645121	+	Silent	SNP	T	T	C	rs147541791	byFrequency	TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr7:100645121T>C	ENST00000379442.3	+	5	11706	c.11706T>C	c.(11704-11706)agT>agC	p.S3902S	MUC12_ENST00000536621.1_Silent_p.S3759S			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	3902	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						CACCTGCCAGTATGACAAGCC	0.572																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_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.11706T>C	7.37:g.100645121T>C			A6ND38|F5GWV9|Q9UKN0	Silent	SNP	pfam_SEA	p.S3902	ENST00000379442.3	37	c.11706		7																																																																																			MUC12	-	NULL	ENSG00000205277		0.572	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	28	0.00	0	T	XM_379904		100645121	100645121	+1	no_errors	ENST00000379442	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	0.000	C
NEK1	4750	genome.wustl.edu	37	4	170506525	170506525	+	Missense_Mutation	SNP	C	C	A	rs200161705	byFrequency	TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr4:170506525C>A	ENST00000439128.2	-	9	1422	c.782G>T	c.(781-783)cGc>cTc	p.R261L	NEK1_ENST00000507142.1_Missense_Mutation_p.R261L|NEK1_ENST00000511633.1_Missense_Mutation_p.R261L|NEK1_ENST00000510533.1_Missense_Mutation_p.R261L|NEK1_ENST00000512193.1_Missense_Mutation_p.R261L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	261					cellular response to DNA damage stimulus (GO:0006974)|cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.R261L(2)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTTTTCAATGCGTTTGGCTAT	0.388																																						dbGAP											2	Substitution - Missense(2)	breast(2)											72.0	68.0	69.0					4																	170506525		1828	4084	5912	-	-	-	SO:0001583	missense	0			AB067488	CCDS47162.1, CCDS56348.1, CCDS56349.1, CCDS56350.1, CCDS56351.1	4q32.3	2012-11-15	2012-11-15		ENSG00000137601	ENSG00000137601			7744	protein-coding gene	gene with protein product		604588	"""NIMA (never in mitosis gene a)-related kinase 1"""			1382974, 8274451	Standard	NM_012224		Approved	NY-REN-55, KIAA1901	uc003isd.2	Q96PY6	OTTHUMG00000160963	ENST00000439128.2:c.782G>T	4.37:g.170506525C>A	ENSP00000408020:p.Arg261Leu		G5E9Z3|Q05DG5|Q14CB7|Q5H9T1|Q6PIB8|Q96SS2|Q9H6P7|Q9Y594	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R261L	ENST00000439128.2	37	c.782	CCDS47162.1	4	.	.	.	.	.	.	.	.	.	.	C	16.05	3.013627	0.54468	.	.	ENSG00000137601	ENST00000439128;ENST00000511633;ENST00000510533;ENST00000507142;ENST00000512193	T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99	5.82	5.82	0.92795	Protein kinase-like domain (1);	0.000000	0.64402	D	0.000004	T	0.37785	0.1016	L	0.37466	1.105	0.80722	D	1	B;D;D;D;D;D	0.89917	0.299;0.989;1.0;1.0;0.986;1.0	B;D;D;D;P;D	0.97110	0.342;0.959;1.0;1.0;0.812;1.0	T	0.01834	-1.1264	10	0.18276	T	0.48	.	20.0909	0.97817	0.0:1.0:0.0:0.0	.	261;261;261;261;261;261	Q96PY6-5;Q96PY6-4;G5E9Z3;Q96PY6-3;Q96PY6-2;Q96PY6	.;.;.;.;.;NEK1_HUMAN	L	261	ENSP00000408020:R261L;ENSP00000423332:R261L;ENSP00000427653:R261L;ENSP00000424757:R261L;ENSP00000424938:R261L	ENSP00000408020:R261L	R	-	2	0	NEK1	170743100	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.709000	0.84645	2.756000	0.94617	0.591000	0.81541	CGC	NEK1	-	superfamily_Kinase-like_dom	ENSG00000137601		0.388	NEK1-001	KNOWN	basic|CCDS	protein_coding	NEK1	HGNC	protein_coding	OTTHUMT00000363157.3	179	0.00	0	C			170506525	170506525	-1	no_errors	ENST00000507142	ensembl	human	known	69_37n	missense	74	13.95	12	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	125	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	107	15.75	20	SNP	1.000	A
PTPN23	25930	genome.wustl.edu	37	3	47451454	47451454	+	Silent	SNP	C	C	T			TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr3:47451454C>T	ENST00000265562.4	+	20	2243	c.2166C>T	c.(2164-2166)gcC>gcT	p.A722A	PTPN23_ENST00000431726.1_Silent_p.A596A	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	722	Pro-rich.				cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A722A(1)		breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCCACAGCCCCAAAGCCGC	0.682																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											17.0	21.0	20.0					3																	47451454		2197	4294	6491	-	-	-	SO:0001819	synonymous_variant	0			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.2166C>T	3.37:g.47451454C>T			A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Silent	SNP	pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A722	ENST00000265562.4	37	c.2166	CCDS2754.1	3																																																																																			PTPN23	-	NULL	ENSG00000076201		0.682	PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN23	HGNC	protein_coding	OTTHUMT00000257492.2	28	0.00	0	C	NM_015466		47451454	47451454	+1	no_errors	ENST00000265562	ensembl	human	known	69_37n	silent	26	23.53	8	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178952074	178952074	+	Missense_Mutation	SNP	G	G	A	rs121913283		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr3:178952074G>A	ENST00000263967.3	+	21	3286	c.3129G>A	c.(3127-3129)atG>atA	p.M1043I	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		M -> I (in MCAP and CRC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.M1043I(66)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAACAAATGAATGATGCAC	0.368		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	66	Substitution - Missense(66)	large_intestine(36)|endometrium(11)|breast(6)|urinary_tract(4)|lung(4)|cervix(2)|thyroid(1)|central_nervous_system(1)|ovary(1)											98.0	88.0	91.0					3																	178952074		1907	4120	6027	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3129G>A	3.37:g.178952074G>A	ENSP00000263967:p.Met1043Ile		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.M1043I	ENST00000263967.3	37	c.3129	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	15.94	2.979751	0.53827	.	.	ENSG00000121879	ENST00000263967	T	0.75260	-0.92	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.42944	0.1225	N	0.00500	-1.43	0.80722	D	1	B	0.25955	0.138	B	0.19666	0.026	T	0.58662	-0.7597	10	0.02654	T	1	-20.5202	20.6721	0.99693	0.0:0.0:1.0:0.0	.	1043	P42336	PK3CA_HUMAN	I	1043	ENSP00000263967:M1043I	ENSP00000263967:M1043I	M	+	3	0	PIK3CA	180434768	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.367000	0.97148	2.894000	0.99253	0.591000	0.81541	ATG	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.368	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	134	0.00	0	G			178952074	178952074	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	41	21.82	12	SNP	1.000	A
RBM15	64783	genome.wustl.edu	37	1	110883275	110883281	+	Frame_Shift_Del	DEL	CGGCTTT	CGGCTTT	-	rs375971671		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	CGGCTTT	CGGCTTT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr1:110883275_110883281delCGGCTTT	ENST00000369784.3	+	1	2148_2154	c.1248_1254delCGGCTTT	c.(1246-1254)tacggctttfs	p.YGF416fs	RBM15_ENST00000487146.2_Frame_Shift_Del_p.YGF416fs|RP5-1074L1.1_ENST00000449169.1_RNA|RBM15_ENST00000602849.1_Frame_Shift_Del_p.YGF416fs	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	416	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		CTAGTACTTACGGCTTTCTCAAATTTG	0.411			T	MKL1	acute megakaryocytic leukemia																																	dbGAP		Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0																																										-	-	-	SO:0001589	frameshift_variant	0			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.1248_1254delCGGCTTT	1.37:g.110883275_110883281delCGGCTTT	ENSP00000358799:p.Tyr416fs		A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Frame_Shift_Del	DEL	pfam_SPOC_C,pfam_RRM_dom,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.G417fs	ENST00000369784.3	37	c.1248_1254	CCDS822.1	1																																																																																			RBM15	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	ENSG00000162775		0.411	RBM15-001	KNOWN	basic|CCDS	protein_coding	RBM15	HGNC	protein_coding	OTTHUMT00000031114.2	78	0.00	0	CGGCTTT	NM_022768		110883275	110883281	+1	no_errors	ENST00000369784	ensembl	human	known	69_37n	frame_shift_del	38	14.89	7	DEL	1.000:1.000:1.000:0.753:1.000:1.000:0.998	-
VPS4B	9525	genome.wustl.edu	37	18	61071018	61071018	+	Missense_Mutation	SNP	C	C	T	rs142699030		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr18:61071018C>T	ENST00000238497.5	-	5	609	c.406G>A	c.(406-408)Gtt>Att	p.V136I	VPS4B_ENST00000591383.1_5'UTR	NM_004869.3	NP_004860.2	O75351	VPS4B_HUMAN	vacuolar protein sorting 4 homolog B (S. cerevisiae)	136					ATP catabolic process (GO:0006200)|cell cycle (GO:0007049)|cell division (GO:0051301)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|intracellular cholesterol transport (GO:0032367)|membrane organization (GO:0061024)|positive regulation of viral release from host cell (GO:1902188)|potassium ion transport (GO:0006813)|protein transport (GO:0015031)|regulation of viral process (GO:0050792)|response to lipid (GO:0033993)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|nucleus (GO:0005634)|vacuolar membrane (GO:0005774)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)	p.V136I(1)		breast(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	13						AGTCCAGCAACGTCACTCCAT	0.348													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19244	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	breast(1)											80.0	72.0	75.0					18																	61071018		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF038960	CCDS11983.1	18q21.33	2010-04-21	2006-04-04	2002-06-14	ENSG00000119541	ENSG00000119541		"""ATPases / AAA-type"""	10895	protein-coding gene	gene with protein product		609983	"""suppressor of K+ transport defect 1"", ""vacuolar protein sorting 4B (yeast)"""	SKD1		11563910	Standard	XM_006722582		Approved	VPS4-2, SKD1B	uc002lix.3	O75351	OTTHUMG00000132790	ENST00000238497.5:c.406G>A	18.37:g.61071018C>T	ENSP00000238497:p.Val136Ile		Q69HW4|Q9GZS7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase	p.V136I	ENST00000238497.5	37	c.406	CCDS11983.1	18	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	17.98	3.521031	0.64747	.	.	ENSG00000119541	ENST00000238497	D	0.95103	-3.61	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.88518	0.6458	N	0.16656	0.425	0.80722	D	1	B;B;B	0.34399	0.452;0.452;0.452	B;B;B	0.27076	0.076;0.076;0.076	D	0.86392	0.1736	10	0.18276	T	0.48	-26.6222	19.8193	0.96586	0.0:1.0:0.0:0.0	.	136;136;136	A8K5D8;A8K4G7;O75351	.;.;VPS4B_HUMAN	I	136	ENSP00000238497:V136I	ENSP00000238497:V136I	V	-	1	0	VPS4B	59221998	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.792000	0.85828	2.699000	0.92147	0.650000	0.86243	GTT	VPS4B	-	NULL	ENSG00000119541		0.348	VPS4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS4B	HGNC	protein_coding	OTTHUMT00000256198.2	174	0.00	0	C	NM_004869		61071018	61071018	-1	no_errors	ENST00000238497	ensembl	human	known	69_37n	missense	92	15.45	17	SNP	1.000	T
ZNF548	147694	genome.wustl.edu	37	19	57910903	57910903	+	Silent	SNP	G	G	A	rs201107624		TCGA-A2-A0T7-01A-21D-A099-09	TCGA-A2-A0T7-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	3ea4d98d-f8d9-433e-94f1-b0199bfdb198	605ddfcb-4ee9-4dd3-bc87-4460cb63662f	g.chr19:57910903G>A	ENST00000366197.5	+	3	1498	c.1248G>A	c.(1246-1248)acG>acA	p.T416T	ZNF548_ENST00000336128.7_Silent_p.T428T|AC004076.7_ENST00000597410.1_Intron|AC003002.6_ENST00000600421.1_Intron|AC003002.6_ENST00000596400.1_Intron	NM_152909.3	NP_690873.2	Q8NEK5	ZN548_HUMAN	zinc finger protein 548	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.T428T(1)		breast(1)	1		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGTCCACACGGGAGAAAGGC	0.448													g|||	1	0.000199681	0.0	0.0	5008	,	,		21036	0.001		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	breast(1)											61.0	62.0	62.0					19																	57910903		2200	4300	6500	-	-	-	SO:0001819	synonymous_variant	0			AK057494	CCDS46209.1, CCDS54324.1	19q13.43	2013-01-08				ENSG00000188785		"""Zinc fingers, C2H2-type"", ""-"""	26561	protein-coding gene	gene with protein product						12477932	Standard	NM_152909		Approved	FLJ32932	uc002qon.3	Q8NEK5		ENST00000366197.5:c.1248G>A	19.37:g.57910903G>A			Q96M05	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T428	ENST00000366197.5	37	c.1284	CCDS46209.1	19																																																																																			ZNF548	-	pfscan_Znf_C2H2	ENSG00000188785		0.448	ZNF548-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF548	HGNC	protein_coding	OTTHUMT00000465937.1	82	0.00	0	G	NM_152909		57910903	57910903	+1	no_errors	ENST00000336128	ensembl	human	known	69_37n	silent	48	25.00	16	SNP	0.893	A
