#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABHD2	11057	genome.wustl.edu	37	15	89698616	89698616	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr15:89698616T>A	ENST00000352732.5	+	5	909	c.389T>A	c.(388-390)aTc>aAc	p.I130N	ABHD2_ENST00000355100.3_Missense_Mutation_p.I130N|ABHD2_ENST00000565973.1_Missense_Mutation_p.I130N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	130					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ACCATGGTCATCTGCCCTGGA	0.453																																					Colon(11;252 417 24570 33239 41878)	dbGAP											0													159.0	131.0	141.0					15																	89698616		2200	4299	6499	-	-	-	SO:0001583	missense	0			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.389T>A	15.37:g.89698616T>A	ENSP00000268129:p.Ile130Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.I130N	ENST00000352732.5	37	c.389	CCDS10348.1	15	.	.	.	.	.	.	.	.	.	.	T	27.2	4.806616	0.90623	.	.	ENSG00000140526	ENST00000352732;ENST00000355100	T;T	0.45668	0.89;0.89	5.61	5.61	0.85477	.	0.045098	0.85682	D	0.000000	T	0.59918	0.2229	M	0.69823	2.125	0.80722	D	1	D	0.57899	0.981	P	0.57548	0.823	T	0.64584	-0.6373	10	0.87932	D	0	0.578	16.1025	0.81194	0.0:0.0:0.0:1.0	.	130	P08910	ABHD2_HUMAN	N	130	ENSP00000268129:I130N;ENSP00000347217:I130N	ENSP00000268129:I130N	I	+	2	0	ABHD2	87499620	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	7.913000	0.87471	2.254000	0.74563	0.533000	0.62120	ATC	ABHD2	-	pirsf_AB-Hydro_YheT	ENSG00000140526		0.453	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	210	0.00	0	T			89698616	89698616	+1	no_errors	ENST00000352732	ensembl	human	known	69_37n	missense	32	65.96	62	SNP	1.000	A
AK9	221264	genome.wustl.edu	37	6	109820402	109820402	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr6:109820402C>G	ENST00000424296.2	-	36	4967	c.4891G>C	c.(4891-4893)Gag>Cag	p.E1631Q	RP5-919F19.5_ENST00000423747.2_RNA	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1631					ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										GAAAGCAGCTCTTGAGGTGTG	0.388																																						dbGAP											0													55.0	54.0	54.0					6																	109820402		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.4891G>C	6.37:g.109820402C>G	ENSP00000410186:p.Glu1631Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Splice_Site	SNP	-	e2-1	ENST00000424296.2	37	c.93-1	CCDS55048.1	6	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	17.42|17.42|17.42	3.386023|3.386023|3.386023	0.61956|0.61956|0.61956	.|.|.	.|.|.	ENSG00000155085|ENSG00000155085|ENSG00000155085	ENST00000490722|ENST00000424296|ENST00000470564	.|T|.	.|0.70045|.	.|-0.45|.	5.41|5.41|5.41	4.55|4.55|4.55	0.56014|0.56014|0.56014	.|.|.	.|0.100586|.	.|0.64402|.	.|D|.	.|0.000002|.	.|T|T	.|0.62122|0.62122	.|0.2402|0.2402	M|M|M	0.66506|0.66506|0.66506	2.035|2.035|2.035	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.60160|.	.|0.987|.	.|P|.	.|0.50352|.	.|0.638|.	.|T|T	.|0.63892|0.63892	.|-0.6534|-0.6534	.|9|5	.|.|.	.|.|.	.|.|.	.|.|.	14.2353|14.2353|14.2353	0.65922|0.65922|0.65922	0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719|0.0:0.9281:0.0:0.0719	.|.|.	.|1631|.	.|Q5TCS8|.	.|AKD1_HUMAN|.	.|Q|N	-1|1631|468	.|ENSP00000410186:E1631Q|.	.|.|.	.|E|K	-|-|-	.|1|3	.|0|2	AKD1|AKD1|AKD1	109927095|109927095|109927095	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.053000|0.053000|0.053000	0.19242|0.19242|0.19242	0.891000|0.891000|0.891000	0.51852|0.51852|0.51852	5.460000|5.460000|5.460000	0.66691|0.66691|0.66691	1.408000|1.408000|1.408000	0.46895|0.46895|0.46895	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	.|GAG|AAG	AKD1	-	-	ENSG00000155085		0.388	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	AKD1	HGNC	protein_coding		150	0.00	0	C	NM_001145128		109820402	109820402	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000490722	ensembl	human	novel	69_37n	splice_site	21	77.42	72	SNP	0.999	G
ATHL1	80162	genome.wustl.edu	37	11	289924	289924	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr11:289924T>A	ENST00000409548.2	+	2	223	c.108T>A	c.(106-108)ttT>ttA	p.F36L	RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000533924.1_RNA|ATHL1_ENST00000409655.1_5'UTR|RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409479.1_Missense_Mutation_p.F36L	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	36					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CACGAGTGTTTCACGACACGC	0.677																																						dbGAP											0													68.0	70.0	70.0					11																	289924		692	1591	2283	-	-	-	SO:0001583	missense	0			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.108T>A	11.37:g.289924T>A	ENSP00000387185:p.Phe36Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.F36L	ENST00000409548.2	37	c.108	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	T	14.34	2.507447	0.44558	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	4.66	0.0399	0.14206	.	.	.	.	.	T	0.25827	0.0629	N	0.24115	0.695	0.23559	N	0.997419	B;B	0.18310	0.012;0.027	B;B	0.19148	0.002;0.024	T	0.26849	-1.0091	8	0.16896	T	0.51	.	10.0059	0.41957	0.0:0.6794:0.0:0.3206	.	36;36	Q32M88;E7EMA9	ATHL1_HUMAN;.	L	36	.	ENSP00000387099:F36L	F	+	3	2	ATHL1	279924	0.041000	0.20044	0.237000	0.24090	0.149000	0.21700	0.439000	0.21575	-0.385000	0.07833	0.402000	0.26972	TTT	ATHL1	-	NULL	ENSG00000142102		0.677	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	38	0.00	0	T	NM_025092		289924	289924	+1	no_errors	ENST00000409548	ensembl	human	known	69_37n	missense	18	35.71	10	SNP	0.753	A
ANKRD13D	338692	genome.wustl.edu	37	11	67057824	67057824	+	5'UTR	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr11:67057824C>T	ENST00000447274.2	+	0	1172				ANKRD13D_ENST00000514166.1_5'UTR|ANKRD13D_ENST00000511455.2_Silent_p.P86P|ANKRD13D_ENST00000308440.6_5'UTR			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D							endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGGAGACCCCGAGATGGTGC	0.662																																						dbGAP											0													49.0	37.0	41.0					11																	67057824		2183	4279	6462	-	-	-	SO:0001623	5_prime_UTR_variant	0			AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.-4C>T	11.37:g.67057824C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Silent	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.P86	ENST00000447274.2	37	c.258		11																																																																																			ANKRD13D	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000172932		0.662	ANKRD13D-001	KNOWN	basic	protein_coding	ANKRD13D	HGNC	protein_coding	OTTHUMT00000371067.2	53	0.00	0	C	NM_207354		67057824	67057824	+1	no_errors	ENST00000511455	ensembl	human	known	69_37n	silent	25	24.24	8	SNP	0.001	T
C15orf39	56905	genome.wustl.edu	37	15	75501096	75501096	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr15:75501096C>T	ENST00000360639.2	+	2	3027	c.2707C>T	c.(2707-2709)Cgc>Tgc	p.R903C	C15orf39_ENST00000567617.1_Missense_Mutation_p.R903C|RP11-69H7.3_ENST00000563568.1_RNA|C15orf39_ENST00000394987.4_Missense_Mutation_p.R903C			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	903						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACTGGCGCTGCGCCAGCTGCC	0.697																																						dbGAP											0													25.0	23.0	24.0					15																	75501096		2197	4293	6490	-	-	-	SO:0001583	missense	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2707C>T	15.37:g.75501096C>T	ENSP00000353854:p.Arg903Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.R903C	ENST00000360639.2	37	c.2707	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	C	19.14	3.768977	0.69992	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.23754	1.89;1.89	5.29	4.31	0.51392	.	0.088921	0.56097	D	0.000032	T	0.44201	0.1282	L	0.60455	1.87	0.53688	D	0.999977	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.989	T	0.35649	-0.9780	10	0.87932	D	0	-25.6474	10.8313	0.46663	0.3361:0.6639:0.0:0.0	.	465;903	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	C	903;903;301	ENSP00000353854:R903C;ENSP00000378438:R903C	ENSP00000353854:R903C	R	+	1	0	C15orf39	73288149	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	6.276000	0.72601	2.480000	0.83734	0.561000	0.74099	CGC	C15orf39	-	NULL	ENSG00000167173		0.697	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	25	0.00	0	C	NM_015492		75501096	75501096	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	missense	2	71.43	5	SNP	1.000	T
C19orf38	255809	genome.wustl.edu	37	19	10973880	10973880	+	Silent	SNP	C	C	G			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr19:10973880C>G	ENST00000397820.4	+	6	647	c.540C>G	c.(538-540)tcC>tcG	p.S180S	C19orf38_ENST00000592854.1_Silent_p.S180S	NM_001136482.1	NP_001129954.1	A8MVS5	HIDE1_HUMAN	chromosome 19 open reading frame 38	180						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)	2						TTACCGTCTCCGCGGTGAGTG	0.547																																						dbGAP											0													174.0	152.0	159.0					19																	10973880		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS45970.1	19p13.2	2011-08-02	2008-04-14		ENSG00000214212	ENSG00000214212			34073	protein-coding gene	gene with protein product	"""Highly expressed in immature dendritic cell transcript 1"""						Standard	NM_001136482		Approved	HIDE1	uc010dxm.1	A8MVS5		ENST00000397820.4:c.540C>G	19.37:g.10973880C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RXI3	Silent	SNP	NULL	p.S180	ENST00000397820.4	37	c.540	CCDS45970.1	19																																																																																			C19orf38	-	NULL	ENSG00000214212		0.547	C19orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf38	HGNC	protein_coding	OTTHUMT00000452622.1	407	0.00	0	C	NM_001136482		10973880	10973880	+1	no_errors	ENST00000397820	ensembl	human	known	69_37n	silent	242	37.31	144	SNP	0.003	G
DRC1	92749	genome.wustl.edu	37	2	26671656	26671656	+	Silent	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr2:26671656C>T	ENST00000288710.2	+	11	1568	c.1494C>T	c.(1492-1494)ctC>ctT	p.L498L		NM_145038.2	NP_659475.2	Q96MC2	DRC1_HUMAN	dynein regulatory complex subunit 1	498					axonemal dynein complex assembly (GO:0070286)|bacterial-type flagellum-dependent cell motility (GO:0071973)|cilium-dependent cell motility (GO:0060285)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)											TCCTGATGCTCCTGTGTGACG	0.602																																						dbGAP											0													80.0	95.0	90.0					2																	26671656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL833892	CCDS1723.1	2p23.3	2014-07-18	2014-07-18	2013-03-14	ENSG00000157856	ENSG00000157856			24245	protein-coding gene	gene with protein product		615288	"""chromosome 2 open reading frame 39"", ""coiled-coil domain containing 164"", ""dynein regulatory complex subunit 1 homolog (Chlamydomonas)"""	C2orf39, CCDC164		23354437	Standard	NM_145038		Approved	MGC16372, FLJ32660, CILD21	uc002rhg.2	Q96MC2	OTTHUMG00000125531	ENST00000288710.2:c.1494C>T	2.37:g.26671656C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1N8|Q53R91|Q53TA3|Q8NDI5	Silent	SNP	NULL	p.L498	ENST00000288710.2	37	c.1494	CCDS1723.1	2																																																																																			CCDC164	-	NULL	ENSG00000157856		0.602	DRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC164	HGNC	protein_coding	OTTHUMT00000246862.1	91	0.00	0	C	NM_145038		26671656	26671656	+1	no_errors	ENST00000288710	ensembl	human	known	69_37n	silent	37	13.95	6	SNP	0.012	T
CYP17A1	1586	genome.wustl.edu	37	10	104590523	104590523	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr10:104590523G>T	ENST00000369887.3	-	8	1634	c.1463C>A	c.(1462-1464)tCt>tAt	p.S488Y	CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'Flank	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1	488			Missing (in AH5). {ECO:0000269|PubMed:8345056}.		adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CACTTTGAAAGAGTCGATCAG	0.587																																						dbGAP											0													33.0	31.0	32.0					10																	104590523		2203	4300	6503	-	-	-	SO:0001583	missense	0			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.1463C>A	10.37:g.104590523G>T	ENSP00000358903:p.Ser488Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5TZV7	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.S488Y	ENST00000369887.3	37	c.1463	CCDS7541.1	10	.	.	.	.	.	.	.	.	.	.	G	17.81	3.479573	0.63849	.	.	ENSG00000148795	ENST00000369887	T	0.79749	-1.3	5.63	4.73	0.59995	.	0.924734	0.09439	N	0.801966	D	0.82314	0.5010	L	0.41573	1.285	0.23720	N	0.997028	D	0.55800	0.973	P	0.53266	0.722	T	0.71388	-0.4608	10	0.62326	D	0.03	.	12.8461	0.57831	0.0:0.0:0.563:0.437	.	488	P05093	CP17A_HUMAN	Y	488	ENSP00000358903:S488Y	ENSP00000358903:S488Y	S	-	2	0	CYP17A1	104580513	0.882000	0.30256	0.848000	0.33437	0.837000	0.47467	1.783000	0.38664	1.372000	0.46190	0.561000	0.74099	TCT	CYP17A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000148795		0.587	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1	HGNC	protein_coding	OTTHUMT00000050101.1	62	0.00	0	G	NM_000102		104590523	104590523	-1	no_errors	ENST00000369887	ensembl	human	known	69_37n	missense	25	28.57	10	SNP	0.892	T
FAM175B	23172	genome.wustl.edu	37	10	126523295	126523295	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr10:126523295C>T	ENST00000298492.5	+	9	1048	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	335					cellular response to freezing (GO:0071497)	BRISC complex (GO:0070552)|cytoplasm (GO:0005737)	polyubiquitin binding (GO:0031593)			NS(1)	1						GCCTCGACCTCAAGCTGTGGG	0.522																																						dbGAP											0													104.0	92.0	96.0					10																	126523295		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			D63877	CCDS31308.2	10q26.2	2013-01-24	2008-07-02	2008-07-02	ENSG00000165660	ENSG00000165660			28975	protein-coding gene	gene with protein product	"""Abraxas brother"""	611144	"""KIAA0157"""	KIAA0157		8590280	Standard	NM_032182		Approved	Em:AC068896.4, ABRO1	uc001lib.4	Q15018	OTTHUMG00000019218	ENST00000298492.5:c.1003C>T	10.37:g.126523295C>T	ENSP00000298492:p.Gln335*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DKR2|Q96H11	Nonsense_Mutation	SNP	prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175	p.Q335*	ENST00000298492.5	37	c.1003	CCDS31308.2	10	.	.	.	.	.	.	.	.	.	.	C	34	5.394241	0.96009	.	.	ENSG00000165660	ENST00000298492	.	.	.	5.97	5.97	0.96955	.	0.115453	0.64402	D	0.000015	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-17.8084	20.4388	0.99107	0.0:1.0:0.0:0.0	.	.	.	.	X	335	.	ENSP00000298492:Q335X	Q	+	1	0	FAM175B	126513285	1.000000	0.71417	0.990000	0.47175	0.984000	0.73092	6.372000	0.73123	2.836000	0.97738	0.655000	0.94253	CAA	FAM175B	-	NULL	ENSG00000165660		0.522	FAM175B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175B	HGNC	protein_coding	OTTHUMT00000050891.2	258	0.00	0	C	NM_032182		126523295	126523295	+1	no_errors	ENST00000298492	ensembl	human	known	69_37n	nonsense	104	23.53	32	SNP	1.000	T
FAT2	2196	genome.wustl.edu	37	5	150948446	150948446	+	Missense_Mutation	SNP	G	G	A	rs200899973		TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr5:150948446G>A	ENST00000261800.5	-	1	59	c.47C>T	c.(46-48)gCg>gTg	p.A16V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	16					epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCACAGGTCGCACAATGGAG	0.478													G|||	1	0.000199681	0.0	0.0	5008	,	,		19246	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													81.0	84.0	83.0					5																	150948446		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.47C>T	5.37:g.150948446G>A	ENSP00000261800:p.Ala16Val	Somatic		WXS	Illumina GAIIx	Phase_IV	O75091|Q9NSR7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.A16V	ENST00000261800.5	37	c.47	CCDS4317.1	5	.	.	.	.	.	.	.	.	.	.	G	3.587	-0.084437	0.07097	.	.	ENSG00000086570	ENST00000261800	T	0.70164	-0.46	5.46	-0.587	0.11690	.	1.087770	0.07055	N	0.832666	T	0.50752	0.1634	L	0.33485	1.01	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.25984	-1.0116	10	0.23302	T	0.38	.	6.1856	0.20495	0.6016:0.2691:0.1293:0.0	.	16	Q9NYQ8	FAT2_HUMAN	V	16	ENSP00000261800:A16V	ENSP00000261800:A16V	A	-	2	0	FAT2	150928639	0.000000	0.05858	0.002000	0.10522	0.113000	0.19764	-0.480000	0.06559	-0.334000	0.08463	-0.367000	0.07326	GCG	FAT2	-	NULL	ENSG00000086570		0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT2	HGNC	protein_coding	OTTHUMT00000252434.1	142	0.00	0	G	NM_001447		150948446	150948446	-1	no_errors	ENST00000261800	ensembl	human	known	69_37n	missense	25	67.95	53	SNP	0.000	A
FGFR2	2263	genome.wustl.edu	37	10	123239386	123239386	+	Silent	SNP	G	G	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr10:123239386G>A	ENST00000358487.5	-	18	2723	c.2451C>T	c.(2449-2451)ggC>ggT	p.G817G	FGFR2_ENST00000346997.2_Silent_p.G815G|FGFR2_ENST00000369059.1_Silent_p.G703G|FGFR2_ENST00000369060.4_Silent_p.G701G|FGFR2_ENST00000369061.4_Silent_p.G705G|FGFR2_ENST00000356226.4_Silent_p.G700G|FGFR2_ENST00000478859.1_Silent_p.G589G|FGFR2_ENST00000357555.5_Intron|FGFR2_ENST00000457416.2_Silent_p.G818G	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	817					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	TTTTAACACTGCCGTTTATGT	0.488		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													dbGAP		Dom	yes		10	10q26	2263	fibroblast growth factor receptor 2	yes	E	0													221.0	174.0	190.0					10																	123239386		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.2451C>T	10.37:g.123239386G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Silent	SNP	pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G818	ENST00000358487.5	37	c.2454	CCDS31298.1	10																																																																																			FGFR2	-	pirsf_Tyr_kinase_fibroblast_GF_rcpt	ENSG00000066468		0.488	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	FGFR2	HGNC	protein_coding	OTTHUMT00000050715.1	461	0.00	0	G	NM_022976, NM_000141		123239386	123239386	-1	no_errors	ENST00000457416	ensembl	human	known	69_37n	silent	160	49.53	157	SNP	1.000	A
FTMT	94033	genome.wustl.edu	37	5	121187842	121187842	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr5:121187842G>A	ENST00000321339.1	+	1	193	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	62					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TACCGGGCCCGCCGCCGGCCC	0.736																																						dbGAP											0													15.0	17.0	17.0					5																	121187842		2199	4299	6498	-	-	-	SO:0001583	missense	0			BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.184G>A	5.37:g.121187842G>A	ENSP00000313691:p.Ala62Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Ferritin_DPS_dom,superfamily_Ferritin/RR-like,pfscan_Ferritin-like_diiron	p.A62T	ENST00000321339.1	37	c.184	CCDS4128.1	5	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.939111	0.00484	.	.	ENSG00000181867	ENST00000321339	T	0.64260	-0.09	2.19	-4.39	0.03611	.	2.107230	0.03147	N	0.167519	T	0.38957	0.1060	N	0.17082	0.46	0.09310	N	1	B	0.13145	0.007	B	0.08055	0.003	T	0.48364	-0.9042	10	0.02654	T	1	.	7.4447	0.27205	0.5611:0.2954:0.1435:0.0	.	62	Q8N4E7	FTMT_HUMAN	T	62	ENSP00000313691:A62T	ENSP00000313691:A62T	A	+	1	0	FTMT	121215741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.662000	0.05305	-2.960000	0.00290	-1.648000	0.00760	GCC	FTMT	-	NULL	ENSG00000181867		0.736	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTMT	HGNC	protein_coding	OTTHUMT00000250884.1	18	0.00	0	G	NM_177478		121187842	121187842	+1	no_errors	ENST00000321339	ensembl	human	known	69_37n	missense	3	62.50	5	SNP	0.000	A
GPR142	350383	genome.wustl.edu	37	17	72368642	72368642	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr17:72368642A>G	ENST00000335666.4	+	4	1340	c.1292A>G	c.(1291-1293)gAt>gGt	p.D431G		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	431						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						GTCATCCACGATGCCTACCTG	0.612																																						dbGAP											0													64.0	57.0	59.0					17																	72368642		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1292A>G	17.37:g.72368642A>G	ENSP00000335158:p.Asp431Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A4CYJ8|Q86SL3	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	p.D431G	ENST00000335666.4	37	c.1292	CCDS11698.1	17	.	.	.	.	.	.	.	.	.	.	A	15.68	2.903951	0.52333	.	.	ENSG00000257008	ENST00000335666	T	0.67345	-0.26	3.89	2.82	0.32997	.	0.544964	0.18335	N	0.144367	T	0.46946	0.1419	L	0.27053	0.805	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.09377	0.004;0.003	T	0.22591	-1.0212	10	0.27082	T	0.32	-8.9498	5.3324	0.15940	0.7773:0.0:0.2227:0.0	.	431;1393	Q7Z601;Q8NGB0	GP142_HUMAN;.	G	431	ENSP00000335158:D431G	ENSP00000335158:D431G	D	+	2	0	GPR142	69880237	0.000000	0.05858	0.002000	0.10522	0.874000	0.50279	0.578000	0.23773	0.873000	0.35799	0.454000	0.30748	GAT	GPR142	-	NULL	ENSG00000257008		0.612	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	HGNC	protein_coding	OTTHUMT00000442545.1	25	0.00	0	A	NM_181790		72368642	72368642	+1	no_errors	ENST00000335666	ensembl	human	known	69_37n	missense	5	58.33	7	SNP	0.059	G
JPH4	84502	genome.wustl.edu	37	14	24040436	24040436	+	Frame_Shift_Del	DEL	C	C	-	rs144738828		TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr14:24040436delC	ENST00000397118.3	-	6	2406	c.1504delG	c.(1504-1506)gcafs	p.A502fs	JPH4_ENST00000356300.4_Frame_Shift_Del_p.A502fs|JPH4_ENST00000544177.1_Frame_Shift_Del_p.A167fs	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	502					calcium ion transport into cytosol (GO:0060402)|learning (GO:0007612)|neuromuscular process controlling balance (GO:0050885)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic plasticity (GO:0048167)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)		p.A502fs*12(2)|p.A502fs*8(1)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TGTGCGCCTGCCCCCCCCCAC	0.687																																						dbGAP											3	Insertion - Frameshift(2)|Deletion - Frameshift(1)	ovary(1)|lung(1)|pancreas(1)											75.0	82.0	80.0					14																	24040436		2203	4299	6502	-	-	-	SO:0001589	frameshift_variant	0			AB058734	CCDS9603.1	14q11	2004-05-28	2004-05-28	2004-05-28	ENSG00000092051	ENSG00000092051			20156	protein-coding gene	gene with protein product			"""junctophilin like 1"""	JPHL1		11347906	Standard	NM_032452		Approved	KIAA1831	uc001wkr.2	Q96JJ6	OTTHUMG00000028769	ENST00000397118.3:c.1504delG	14.37:g.24040436delC	ENSP00000380307:p.Ala502fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DS53|Q8ND44|Q96DQ0	Frame_Shift_Del	DEL	pfam_MORN,smart_MORN,pirsf_Junctophilin	p.A502fs	ENST00000397118.3	37	c.1504	CCDS9603.1	14																																																																																			JPH4	-	pirsf_Junctophilin	ENSG00000092051		0.687	JPH4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	JPH4	HGNC	protein_coding	OTTHUMT00000413853.1	14	0.00	0	C	NM_032452		24040436	24040436	-1	no_errors	ENST00000356300	ensembl	human	known	69_37n	frame_shift_del	22	15.38	4	DEL	0.057	-
NAMPTL	646309	genome.wustl.edu	37	10	36812539	36812539	+	5'Flank	SNP	A	A	G			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr10:36812539A>G	ENST00000543053.1	-	0	0									nicotinamide phosphoribosyltransferase-like											biliary_tract(1)|breast(3)|lung(9)|stomach(1)	14						AATATTTTTTATTTAGAGCAA	0.433																																						dbGAP											0																																										-	-	-	SO:0001631	upstream_gene_variant	0					10p11.21	2013-03-27	2008-11-06	2008-11-06	ENSG00000229644	ENSG00000229644			17633	other	unknown			"""pre-B-cell colony enhancing factor 2"""	PBEF2		8289818	Standard	NG_005593		Approved	bA92J19.4			OTTHUMG00000017964		10.37:g.36812539A>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase	p.N208	ENST00000543053.1	37	c.624		10																																																																																			NAMPTL	-	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nicotinamide_PRibTrfase	ENSG00000229644		0.433	NAMPTL-201	KNOWN	basic|appris_principal	protein_coding	NAMPTL	HGNC	protein_coding		167	0.00	0	A	NG_005593		36812539	36812539	-1	no_start_codon	ENST00000440465	ensembl	human	known	69_37n	silent	149	23.98	47	SNP	0.999	G
NAV3	89795	genome.wustl.edu	37	12	78388624	78388624	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr12:78388624T>C	ENST00000397909.2	+	6	886	c.713T>C	c.(712-714)aTt>aCt	p.I238T	NAV3_ENST00000266692.7_Missense_Mutation_p.I238T|NAV3_ENST00000536525.2_Missense_Mutation_p.I238T|NAV3_ENST00000228327.6_Missense_Mutation_p.I238T			Q8IVL0	NAV3_HUMAN	neuron navigator 3	238						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CACAGTGGAATTGCAACCAGT	0.348										HNSCC(70;0.22)																												dbGAP											0													140.0	131.0	134.0					12																	78388624		1825	4094	5919	-	-	-	SO:0001583	missense	0			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.713T>C	12.37:g.78388624T>C	ENSP00000381007:p.Ile238Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.I238T	ENST00000397909.2	37	c.713		12	.	.	.	.	.	.	.	.	.	.	T	19.04	3.750400	0.69533	.	.	ENSG00000067798	ENST00000549464;ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692	T;T;T;T;T	0.39787	1.06;1.06;1.06;1.06;1.06	5.95	5.95	0.96441	.	0.419009	0.16790	U	0.199422	T	0.50871	0.1641	N	0.19112	0.55	0.80722	D	1	B;D	0.67145	0.361;0.996	B;D	0.77557	0.068;0.99	T	0.48502	-0.9030	10	0.37606	T	0.19	-18.5013	16.4237	0.83790	0.0:0.0:0.0:1.0	.	238;238	Q8IVL0;Q8IVL0-2	NAV3_HUMAN;.	T	238	ENSP00000446628:I238T;ENSP00000446132:I238T;ENSP00000381007:I238T;ENSP00000228327:I238T;ENSP00000266692:I238T	ENSP00000228327:I238T	I	+	2	0	NAV3	76912755	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.048000	0.76606	2.279000	0.76181	0.533000	0.62120	ATT	NAV3	-	NULL	ENSG00000067798		0.348	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	551	0.00	0	T	NM_001024383		78388624	78388624	+1	no_errors	ENST00000397909	ensembl	human	known	69_37n	missense	315	38.83	200	SNP	1.000	C
NDUFS7	374291	genome.wustl.edu	37	19	1387829	1387829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr19:1387829delC	ENST00000233627.9	+	2	332	c.36delC	c.(34-36)ttcfs	p.F12fs	NDUFS7_ENST00000313408.7_Frame_Shift_Del_p.F12fs|NDUFS7_ENST00000539480.1_Frame_Shift_Del_p.F12fs|NDUFS7_ENST00000540530.1_3'UTR|NDUFS7_ENST00000414651.2_Frame_Shift_Del_p.F12fs|NDUFS7_ENST00000546283.1_Frame_Shift_Del_p.F12fs	NM_024407.4	NP_077718.3	O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	12					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|mitochondrial respiratory chain complex I assembly (GO:0032981)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|synaptic membrane (GO:0097060)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|quinone binding (GO:0048038)			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Doxorubicin(DB00997)	TGCGCGGCTTCCGGATCCTTG	0.711																																						dbGAP											0													41.0	40.0	40.0					19																	1387829		2202	4300	6502	-	-	-	SO:0001589	frameshift_variant	0			AF115969	CCDS12063.1	19p13	2011-07-04	2002-08-29		ENSG00000115286	ENSG00000115286		"""Mitochondrial respiratory chain complex / Complex I"""	7714	protein-coding gene	gene with protein product	"""complex I 20kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 7, mitochondrial"""	601825	"""NADH dehydrogenase (ubiquinone) Fe-S protein 7 (20kD) (NADH-coenzyme Q reductase)"""			8938450	Standard	NM_024407		Approved	PSST, FLJ46880, FLJ45860, CI-20	uc002lse.4	O75251	OTTHUMG00000168077	ENST00000233627.9:c.36delC	19.37:g.1387829delC	ENSP00000233627:p.Phe12fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KRI2|Q2T9H7|Q9BV17	Frame_Shift_Del	DEL	pfam_NADH_UbQ_OxRdtase-like_20kDa,tigrfam_NADH_UQ_OxRdtase_20Kd_su	p.R13fs	ENST00000233627.9	37	c.36	CCDS12063.1	19																																																																																			NDUFS7	-	NULL	ENSG00000115286		0.711	NDUFS7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFS7	HGNC	protein_coding	OTTHUMT00000397984.1	38	0.00	0	C	NM_024407		1387829	1387829	+1	no_errors	ENST00000233627	ensembl	human	known	69_37n	frame_shift_del	11	15.38	2	DEL	0.000	-
NEDD9	4739	genome.wustl.edu	37	6	11193886	11193886	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr6:11193886C>T	ENST00000379446.5	-	3	665	c.499G>A	c.(499-501)Gag>Aag	p.E167K	NEDD9_ENST00000504387.1_Missense_Mutation_p.E167K|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	167	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GATGGGTACTCGTATACGTAG	0.512																																						dbGAP											0													174.0	141.0	152.0					6																	11193886		2203	4300	6503	-	-	-	SO:0001583	missense	0			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.499G>A	6.37:g.11193886C>T	ENSP00000368759:p.Glu167Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.E167K	ENST00000379446.5	37	c.499	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	c	22.6	4.307382	0.81247	.	.	ENSG00000111859	ENST00000379446;ENST00000504387	T;T	0.40225	1.04;1.17	5.86	5.86	0.93980	.	0.384557	0.25817	U	0.028111	T	0.57621	0.2066	M	0.76002	2.32	0.80722	D	1	D;D;D	0.76494	0.999;0.977;0.998	D;B;P	0.64144	0.922;0.432;0.736	T	0.46978	-0.9152	10	0.31617	T	0.26	-41.5666	20.5678	0.99360	0.0:1.0:0.0:0.0	.	167;167;167	G5E9Y9;A8K9G7;Q14511	.;.;CASL_HUMAN	K	167	ENSP00000368759:E167K;ENSP00000422871:E167K	ENSP00000368759:E167K	E	-	1	0	NEDD9	11301872	1.000000	0.71417	0.998000	0.56505	0.429000	0.31625	4.886000	0.63149	2.937000	0.99478	0.651000	0.88453	GAG	NEDD9	-	NULL	ENSG00000111859		0.512	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	201	0.00	0	C	NM_006403		11193886	11193886	-1	no_errors	ENST00000379446	ensembl	human	known	69_37n	missense	212	28.38	84	SNP	1.000	T
NOX1	27035	genome.wustl.edu	37	X	100103700	100103700	+	Missense_Mutation	SNP	A	A	C			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chrX:100103700A>C	ENST00000372966.3	-	12	1692	c.1487T>G	c.(1486-1488)gTg>gGg	p.V496G	NOX1_ENST00000372960.4_Missense_Mutation_p.V459G|NOX1_ENST00000372964.1_Intron|NOX1_ENST00000217885.5_Missense_Mutation_p.V447G	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	496	Interaction with NOXO1.				angiogenesis (GO:0001525)|cell migration (GO:0016477)|cellular response to hyperoxia (GO:0071455)|cellular stress response to acidic pH (GO:1990451)|extracellular matrix organization (GO:0030198)|hydrogen peroxide metabolic process (GO:0042743)|inflammatory response (GO:0006954)|intracellular pH elevation (GO:0051454)|NADP metabolic process (GO:0006739)|oxidation-reduction process (GO:0055114)|oxygen metabolic process (GO:0072592)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of JNK cascade (GO:0046330)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation vascular endothelial growth factor production (GO:0010575)|proton transport (GO:0015992)|regulation of blood pressure (GO:0008217)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|respiratory burst (GO:0045730)|signal transduction (GO:0007165)|superoxide anion generation (GO:0042554)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|early endosome (GO:0005769)|integral component of membrane (GO:0016021)|invadopodium membrane (GO:0071438)|NADPH oxidase complex (GO:0043020)	metal ion binding (GO:0046872)|NADP binding (GO:0050661)|Rac GTPase binding (GO:0048365)|superoxide-generating NADPH oxidase activity (GO:0016175)|voltage-gated proton channel activity (GO:0030171)			cervix(1)|lung(3)|ovary(1)|skin(2)	7						CAGACCTGTCACGATGTCAGT	0.448																																						dbGAP											0													166.0	151.0	156.0					X																	100103700		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF127763	CCDS14474.1, CCDS14475.1, CCDS65298.1	Xq22	2008-08-01			ENSG00000007952	ENSG00000007952			7889	protein-coding gene	gene with protein product	"""mitogenic oxidase (pyridine nucleotide-dependent superoxide-generating)"", ""NADPH oxidase homolog-1"", ""NADPH oxidase 1 variant NOH-1L"""	300225				10485709, 10615049	Standard	NM_007052		Approved	NOH1, NOH-1, MOX1, GP91-2	uc004egj.3	Q9Y5S8	OTTHUMG00000022007	ENST00000372966.3:c.1487T>G	X.37:g.100103700A>C	ENSP00000362057:p.Val496Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K836|O95691|Q2PP02	Missense_Mutation	SNP	pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.V496G	ENST00000372966.3	37	c.1487	CCDS14474.1	X	.	.	.	.	.	.	.	.	.	.	a	17.28	3.350591	0.61183	.	.	ENSG00000007952	ENST00000372966;ENST00000217885;ENST00000372960	D;D;D	0.95756	-3.8;-3.8;-3.8	4.68	3.48	0.39840	Ferric reductase, NAD binding (1);	0.301679	0.21950	U	0.066743	D	0.96956	0.9006	M	0.84326	2.69	0.52501	D	0.999959	P;P;P	0.49253	0.896;0.816;0.921	P;P;P	0.61658	0.583;0.828;0.892	D	0.95872	0.8892	10	0.62326	D	0.03	0.019	9.1733	0.37096	0.8351:0.0:0.0:0.1649	.	459;447;496	A6NGA6;Q9Y5S8-3;Q9Y5S8	.;.;NOX1_HUMAN	G	496;447;459	ENSP00000362057:V496G;ENSP00000217885:V447G;ENSP00000362051:V459G	ENSP00000217885:V447G	V	-	2	0	NOX1	99990356	1.000000	0.71417	0.996000	0.52242	0.807000	0.45602	7.533000	0.81994	0.608000	0.30000	0.424000	0.28305	GTG	NOX1	-	pfam_Fe_red_NAD-bd_6	ENSG00000007952		0.448	NOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX1	HGNC	protein_coding	OTTHUMT00000057495.1	398	0.25	1	A	NM_007052		100103700	100103700	-1	no_errors	ENST00000372966	ensembl	human	known	69_37n	missense	208	41.29	147	SNP	0.975	C
PIK3CA	5290	genome.wustl.edu	37	3	178922328	178922328	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr3:178922328C>G	ENST00000263967.3	+	6	1254	c.1097C>G	c.(1096-1098)cCc>cGc	p.P366R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	366	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)			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)	GGAGGAGAACCCTTATGTGAC	0.353		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"""	0													227.0	185.0	198.0					3																	178922328		1844	4096	5940	-	-	-	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.1097C>G	3.37:g.178922328C>G	ENSP00000263967:p.Pro366Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.P366R	ENST00000263967.3	37	c.1097	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729802	0.48833	.	.	ENSG00000121879	ENST00000263967	T	0.77489	-1.1	5.53	5.53	0.82687	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.109140	0.64402	D	0.000004	T	0.75228	0.3821	L	0.58583	1.82	0.58432	D	0.999993	B	0.21147	0.052	B	0.20384	0.029	T	0.69914	-0.5016	10	0.16420	T	0.52	-18.0931	19.431	0.94765	0.0:1.0:0.0:0.0	.	366	P42336	PK3CA_HUMAN	R	366	ENSP00000263967:P366R	ENSP00000263967:P366R	P	+	2	0	PIK3CA	180405022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.578000	0.53892	2.600000	0.87896	0.655000	0.94253	CCC	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	375	0.00	0	C			178922328	178922328	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	317	38.57	199	SNP	1.000	G
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	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	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	232	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	124	40.95	86	SNP	1.000	G
PIPSL	266971	genome.wustl.edu	37	10	95721080	95721080	+	RNA	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr10:95721080C>T	ENST00000480546.1	-	0	217					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GGTTGTCCCTCCTGAGGAATC	0.507																																						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.95721080C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.507	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	174	0.00	0	C	NR_002319		95721080	95721080	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	188	17.54	40	SNP	0.993	T
PLXNA4	91584	genome.wustl.edu	37	7	131870086	131870086	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr7:131870086G>A	ENST00000359827.3	-	16	4092	c.3130C>T	c.(3130-3132)Cgg>Tgg	p.R1044W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1044W			Q9HCM2	PLXA4_HUMAN	plexin A4	1044	IPT/TIG 3.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)	p.R1044W(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGCTCAATCCGCACGATGGTG	0.547																																						dbGAP											2	Substitution - Missense(2)	endometrium(2)											110.0	115.0	113.0					7																	131870086		2048	4195	6243	-	-	-	SO:0001583	missense	0			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.3130C>T	7.37:g.131870086G>A	ENSP00000352882:p.Arg1044Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R1044W	ENST00000359827.3	37	c.3130	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	G	17.24	3.338361	0.60963	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.77620	-1.11;-1.11	5.6	3.62	0.41486	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.052478	0.85682	D	0.000000	D	0.85864	0.5796	M	0.74258	2.255	0.40135	D	0.976769	D	0.69078	0.997	D	0.70227	0.968	D	0.87529	0.2451	10	0.66056	D	0.02	.	12.1362	0.53972	0.0:0.0:0.4196:0.5804	.	1044	Q9HCM2	PLXA4_HUMAN	W	1044	ENSP00000323194:R1044W;ENSP00000352882:R1044W	ENSP00000323194:R1044W	R	-	1	2	PLXNA4	131520626	1.000000	0.71417	0.998000	0.56505	0.455000	0.32408	3.180000	0.50895	1.377000	0.46286	-0.268000	0.10319	CGG	PLXNA4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	ENSG00000221866		0.547	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	183	0.00	0	G	NM_181775		131870086	131870086	-1	no_errors	ENST00000321063	ensembl	human	known	69_37n	missense	78	39.06	50	SNP	1.000	A
PPEF1	5475	genome.wustl.edu	37	X	18824537	18824537	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chrX:18824537C>T	ENST00000361511.4	+	15	1762	c.1268C>T	c.(1267-1269)tCt>tTt	p.S423F	PPEF1_ENST00000543630.1_Intron|PPEF1_ENST00000349874.5_Missense_Mutation_p.S361F|PPEF1_ENST00000359763.6_Missense_Mutation_p.S370F|PPEF1_ENST00000544635.1_Missense_Mutation_p.S358F	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	423	Catalytic.				detection of stimulus involved in sensory perception (GO:0050906)|phototransduction, visible light (GO:0007603)|protein dephosphorylation (GO:0006470)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					ACTATATTTTCTGCTTCTAAT	0.368																																						dbGAP											0													130.0	129.0	129.0					X																	18824537		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC036026	CCDS14188.1, CCDS43920.1	Xp22	2013-01-10			ENSG00000086717	ENSG00000086717		"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"", ""EF-hand domain containing"""	9243	protein-coding gene	gene with protein product	"""protein phosphatase 7, catalytic subunit, alpha isozyme"""	300109		PPEF		9215685, 9326663	Standard	NM_152224		Approved	PPP7CA	uc004cyq.3	O14829	OTTHUMG00000021219	ENST00000361511.4:c.1268C>T	X.37:g.18824537C>T	ENSP00000354871:p.Ser423Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NHP4|A8K348|O15253|Q9NU21|Q9UJH0	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase	p.S423F	ENST00000361511.4	37	c.1268	CCDS14188.1	X	.	.	.	.	.	.	.	.	.	.	c	16.70	3.196440	0.58126	.	.	ENSG00000086717	ENST00000361511;ENST00000359763;ENST00000349874;ENST00000544635	T;T;T;T	0.28895	1.59;1.59;1.59;1.59	5.57	5.57	0.84162	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);	0.397724	0.23189	N	0.050933	T	0.67144	0.2862	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75889	-0.3158	10	0.72032	D	0.01	-7.5314	18.5563	0.91086	0.0:1.0:0.0:0.0	.	361;423;395	O14829-5;O14829;O14829-3	.;PPE1_HUMAN;.	F	423;370;361;358	ENSP00000354871:S423F;ENSP00000352806:S370F;ENSP00000341892:S361F;ENSP00000441289:S358F	ENSP00000341892:S361F	S	+	2	0	PPEF1	18734458	1.000000	0.71417	1.000000	0.80357	0.172000	0.22775	7.356000	0.79445	2.324000	0.78689	0.509000	0.49947	TCT	PPEF1	-	smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase	ENSG00000086717		0.368	PPEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPEF1	HGNC	protein_coding	OTTHUMT00000055953.3	217	0.00	0	C	NM_006240		18824537	18824537	+1	no_errors	ENST00000361511	ensembl	human	known	69_37n	missense	202	28.11	79	SNP	1.000	T
PPP1R12B	4660	genome.wustl.edu	37	1	202318211	202318211	+	Silent	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr1:202318211C>T	ENST00000608999.1	+	1	385	c.232C>T	c.(232-234)Ctg>Ttg	p.L78L	PPP1R12B_ENST00000356764.2_Silent_p.L78L|PPP1R12B_ENST00000480184.1_Silent_p.L78L|PPP1R12B_ENST00000336894.4_Silent_p.L78L	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	78					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			GAGAAAGCTTCTGGCAAGAGG	0.612																																						dbGAP											0													43.0	39.0	40.0					1																	202318211		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.232C>T	1.37:g.202318211C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L78	ENST00000608999.1	37	c.232	CCDS1426.1	1																																																																																			PPP1R12B	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt-contain_dom	ENSG00000077157		0.612	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	19	0.00	0	C	NM_032105		202318211	202318211	+1	no_errors	ENST00000336894	ensembl	human	known	69_37n	silent	11	38.89	7	SNP	0.965	T
RYR2	6262	genome.wustl.edu	37	1	237656376	237656376	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr1:237656376C>A	ENST00000366574.2	+	19	2267	c.1950C>A	c.(1948-1950)aaC>aaA	p.N650K	RYR2_ENST00000360064.6_Missense_Mutation_p.N648K|RYR2_ENST00000542537.1_Missense_Mutation_p.N634K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	650	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTCTTGTGAACCATGTCAGCA	0.433																																						dbGAP											0													110.0	106.0	108.0					1																	237656376		1980	4171	6151	-	-	-	SO:0001583	missense	0			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.1950C>A	1.37:g.237656376C>A	ENSP00000355533:p.Asn650Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.N648K	ENST00000366574.2	37	c.1944	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	19.48	3.834810	0.71373	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.95069	-3.6;-3.6;-3.6	6.16	0.102	0.14522	Intracellular calcium-release channel (1);B30.2/SPRY domain (1);	0.075857	0.50627	D	0.000101	D	0.94128	0.8117	M	0.80982	2.52	0.80722	D	1	P	0.39443	0.674	P	0.44673	0.457	D	0.91970	0.5586	10	0.87932	D	0	.	9.9742	0.41772	0.0:0.598:0.0:0.402	.	650	Q92736	RYR2_HUMAN	K	650;648;634	ENSP00000355533:N650K;ENSP00000353174:N648K;ENSP00000443798:N634K	ENSP00000353174:N648K	N	+	3	2	RYR2	235722999	1.000000	0.71417	0.995000	0.50966	0.869000	0.49853	0.996000	0.29719	0.118000	0.18165	0.650000	0.86243	AAC	RYR2	-	pfam_Ca-rel_channel,pfscan_B30.2/SPRY	ENSG00000198626		0.433	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	260	0.00	0	C	NM_001035		237656376	237656376	+1	no_errors	ENST00000360064	ensembl	human	known	69_37n	missense	125	49.39	122	SNP	1.000	A
SHROOM4	57477	genome.wustl.edu	37	X	50350796	50350796	+	Missense_Mutation	SNP	G	G	A	rs200144471		TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chrX:50350796G>A	ENST00000289292.7	-	6	3629	c.3346C>T	c.(3346-3348)Cgt>Tgt	p.R1116C	SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1000C|SHROOM4_ENST00000376020.2_Missense_Mutation_p.R1116C			Q9ULL8	SHRM4_HUMAN	shroom family member 4	1116					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					tgGGCTGCACGAAAGAGCCTG	0.567													G|||	4	0.0010596	0.0	0.0	3775	,	,		11946	0.004		0.0	False		,,,				2504	0.0					dbGAP											0													28.0	25.0	26.0					X																	50350796		2202	4299	6501	-	-	-	SO:0001583	missense	0			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.3346C>T	X.37:g.50350796G>A	ENSP00000289292:p.Arg1116Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R1116C	ENST00000289292.7	37	c.3346	CCDS35277.1	X	2	0.0012055455093429777	0	0.0	0	0.0	3	0.005244755244755245	0	0.0	G	12.79	2.043907	0.36085	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.18810	2.61;2.61;2.19	5.35	3.51	0.40186	.	2100.830000	0.00166	N	0.000000	T	0.28001	0.0690	L	0.29908	0.895	0.29698	N	0.840389	D	0.89917	1.0	D	0.65987	0.94	T	0.12682	-1.0538	10	0.87932	D	0	.	8.087	0.30777	0.0916:0.0:0.7463:0.162	.	1116	Q9ULL8	SHRM4_HUMAN	C	1116;1116;1000	ENSP00000289292:R1116C;ENSP00000365188:R1116C;ENSP00000421450:R1000C	ENSP00000289292:R1116C	R	-	1	0	SHROOM4	50367536	0.896000	0.30565	0.866000	0.34008	0.957000	0.61999	2.158000	0.42329	1.112000	0.41740	0.513000	0.50165	CGT	SHROOM4	-	NULL	ENSG00000158352		0.567	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	29	0.00	0	G	NM_020717		50350796	50350796	-1	no_errors	ENST00000289292	ensembl	human	known	69_37n	missense	35	16.67	7	SNP	0.256	A
SLC17A6	57084	genome.wustl.edu	37	11	22360147	22360147	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr11:22360147C>T	ENST00000263160.3	+	1	505	c.68C>T	c.(67-69)tCa>tTa	p.S23L	CTD-2140G10.2_ENST00000528009.1_RNA|CTD-2140G10.2_ENST00000530569.1_RNA|CTD-2140G10.2_ENST00000531304.1_RNA	NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	23					ion transport (GO:0006811)|neurotransmitter uptake (GO:0001504)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.S23L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GCTGGAAAATCACTCGGCCAG	0.468																																						dbGAP											1	Substitution - Missense(1)	lung(1)											64.0	68.0	66.0					11																	22360147		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB032435	CCDS7856.1	11p14.3	2013-07-18	2013-07-18		ENSG00000091664	ENSG00000091664		"""Solute carriers"""	16703	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 2"", ""differentiation-associated Na-dependent inorganic phosphate cotransporter"""	607563	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6"""			11306821	Standard	NM_020346		Approved	DNPI, VGLUT2	uc001mqk.3	Q9P2U8	OTTHUMG00000166063	ENST00000263160.3:c.68C>T	11.37:g.22360147C>T	ENSP00000263160:p.Ser23Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NKS2	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.S23L	ENST00000263160.3	37	c.68	CCDS7856.1	11	.	.	.	.	.	.	.	.	.	.	C	17.58	3.425250	0.62733	.	.	ENSG00000091664	ENST00000263160	T	0.63417	-0.04	5.27	5.27	0.74061	.	0.106857	0.64402	D	0.000004	T	0.58509	0.2127	L	0.39898	1.24	0.52099	D	0.999942	B	0.22909	0.077	B	0.26614	0.071	T	0.57171	-0.7857	10	0.56958	D	0.05	.	18.9139	0.92496	0.0:1.0:0.0:0.0	.	23	Q9P2U8	VGLU2_HUMAN	L	23	ENSP00000263160:S23L	ENSP00000263160:S23L	S	+	2	0	SLC17A6	22316723	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.463000	0.80869	2.465000	0.83290	0.655000	0.94253	TCA	SLC17A6	-	NULL	ENSG00000091664		0.468	SLC17A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A6	HGNC	protein_coding	OTTHUMT00000387671.1	174	0.00	0	C	NM_020346		22360147	22360147	+1	no_errors	ENST00000263160	ensembl	human	known	69_37n	missense	183	24.07	58	SNP	1.000	T
SLC25A36	55186	genome.wustl.edu	37	3	140695183	140695184	+	Missense_Mutation	DNP	AA	AA	GT			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr3:140695183_140695184AA>GT	ENST00000324194.6	+	7	992_993	c.824_825AA>GT	c.(823-825)gAA>gGT	p.E275G	SLC25A36_ENST00000453248.2_Missense_Mutation_p.E249G|SLC25A36_ENST00000446041.2_Missense_Mutation_p.E274G			Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	275					response to estradiol (GO:0032355)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GTTCAAGAAGAAGGTTATGGGT	0.386																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			AK001480	CCDS3114.1, CCDS46927.1	3q23	2013-05-22	2012-03-29		ENSG00000114120	ENSG00000114120		"""Solute carriers"""	25554	protein-coding gene	gene with protein product			"""solute carrier family 25, member 36"""				Standard	NM_001104647		Approved	FLJ10618, PNC2	uc003etr.2	Q96CQ1	OTTHUMG00000160260	Exception_encountered	3.37:g.140695183_140695184delinsGT	ENSP00000320688:p.Glu275Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYF7|Q05CY1|Q9H0G8|Q9NVN5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling	p.E275G|p.E275D	ENST00000324194.6	37	c.824|c.825	CCDS46927.1	3																																																																																			SLC25A36	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	ENSG00000114120		0.386	SLC25A36-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A36	HGNC	protein_coding	OTTHUMT00000359929.1	450|449	0.00	0	A	NM_018155		140695183|140695184	140695183|140695184	+1	no_errors	ENST00000324194	ensembl	human	known	69_37n	missense	295|292	41.85|42.01	213	SNP	1.000	G|T
SLC30A10	55532	genome.wustl.edu	37	1	220089131	220089131	+	Missense_Mutation	SNP	G	G	A	rs202111121		TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr1:220089131G>A	ENST00000366926.3	-	4	1279	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	SLC30A10_ENST00000484079.1_5'UTR|SLC30A10_ENST00000536446.1_Missense_Mutation_p.A128V	NM_018713.2	NP_061183.2	Q6XR72	ZNT10_HUMAN	solute carrier family 30, member 10	373					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	13				GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.209)		GTGGATTCCCGCATGGTGGAA	0.468																																					Colon(76;360 1614 43677 51136)	dbGAP											0													125.0	121.0	122.0					1																	220089131		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY212919	CCDS31026.1	1q41	2013-05-22			ENSG00000196660	ENSG00000196660		"""Solute carriers"""	25355	protein-coding gene	gene with protein product	"""zinc transporter 8"""	611146				15154973	Standard	NR_046437		Approved	DKFZp547M236, ZnT-10, ZRC1, ZNT8	uc001hlw.3	Q6XR72	OTTHUMG00000037434	ENST00000366926.3:c.1118C>T	1.37:g.220089131G>A	ENSP00000355893:p.Ala373Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q49AL9|Q9NPW0	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.A373V	ENST00000366926.3	37	c.1118	CCDS31026.1	1	.	.	.	.	.	.	.	.	.	.	G	0.694	-0.793504	0.02862	.	.	ENSG00000196660	ENST00000366926;ENST00000536446	T;T	0.53206	0.63;0.63	6.02	3.13	0.36017	.	0.180238	0.46758	N	0.000262	T	0.24470	0.0593	N	0.16166	0.38	0.25690	N	0.985705	B	0.27656	0.184	B	0.20577	0.03	T	0.11518	-1.0584	9	.	.	.	-14.6587	6.8382	0.23947	0.1944:0.0:0.6837:0.122	.	373	Q6XR72	ZNT10_HUMAN	V	373;128	ENSP00000355893:A373V;ENSP00000439489:A128V	.	A	-	2	0	SLC30A10	218155754	0.045000	0.20229	0.007000	0.13788	0.026000	0.11368	0.455000	0.21843	0.883000	0.36040	0.650000	0.86243	GCG	SLC30A10	-	pfam_Cation_efflux,tigrfam_Cation_efflux	ENSG00000196660		0.468	SLC30A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A10	HGNC	protein_coding	OTTHUMT00000357709.1	104	0.94	1	G	NM_018713		220089131	220089131	-1	no_errors	ENST00000366926	ensembl	human	known	69_37n	missense	75	36.44	43	SNP	0.048	A
SNX1	6642	genome.wustl.edu	37	15	64428587	64428587	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr15:64428587G>A	ENST00000559844.1	+	13	1438	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q	SNX1_ENST00000560829.1_Missense_Mutation_p.R257Q|SNX1_ENST00000353874.4_Missense_Mutation_p.R427Q|SNX1_ENST00000261889.5_Missense_Mutation_p.R475Q|SNX1_ENST00000561026.1_Missense_Mutation_p.R410Q			Q13596	SNX1_HUMAN	sorting nexin 1	475	BAR.				early endosome to Golgi transport (GO:0034498)|intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|protein complex (GO:0043234)|retromer complex (GO:0030904)	epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|leptin receptor binding (GO:1990460)|phosphatidylinositol binding (GO:0035091)|transferrin receptor binding (GO:1990459)			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACAGTGGTCCGAAAAGAAGTG	0.443																																						dbGAP											0													141.0	136.0	138.0					15																	64428587		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC000357	CCDS32266.1, CCDS32268.1, CCDS58371.1	15q22.31	2011-05-03			ENSG00000028528	ENSG00000028528		"""Sorting nexins"""	11172	protein-coding gene	gene with protein product		601272				8638121	Standard	NM_003099		Approved	SNX1A, MGC8664, HsT17379, Vps5	uc010uio.2	Q13596		ENST00000559844.1:c.1424G>A	15.37:g.64428587G>A	ENSP00000453785:p.Arg475Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NM19|A8K6T7|H0Y2M5|O60750|O60751|Q6ZRJ8	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.R475Q	ENST00000559844.1	37	c.1424	CCDS32266.1	15	.	.	.	.	.	.	.	.	.	.	G	26.2	4.710862	0.89112	.	.	ENSG00000028528	ENST00000380285;ENST00000353874;ENST00000261889	T	0.43294	0.95	6.02	5.11	0.69529	Vps5 C-terminal (1);	0.052573	0.85682	D	0.000000	T	0.51873	0.1700	L	0.55481	1.735	0.58432	D	0.999998	D;P;D;D;P;D	0.60575	0.988;0.922;0.964;0.964;0.87;0.964	P;P;P;P;B;P	0.54238	0.746;0.474;0.73;0.627;0.328;0.73	T	0.53165	-0.8477	10	0.49607	T	0.09	-14.989	14.359	0.66757	0.0703:0.0:0.9297:0.0	.	475;385;475;410;427;475	Q6ZRJ8;Q59GU6;Q53GY8;Q13596-2;A6NKH4;Q13596	.;.;.;.;.;SNX1_HUMAN	Q	475;427;410	ENSP00000326668:R427Q	ENSP00000261889:R410Q	R	+	2	0	SNX1	62215640	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.940000	0.87693	1.570000	0.49709	-0.136000	0.14681	CGA	SNX1	-	pfam_Vps5_C	ENSG00000028528		0.443	SNX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX1	HGNC	protein_coding	OTTHUMT00000418559.1	338	0.29	1	G	NM_003099		64428587	64428587	+1	no_errors	ENST00000559844	ensembl	human	known	69_37n	missense	73	63.50	127	SNP	1.000	A
SOCS6	9306	genome.wustl.edu	37	18	67992682	67992682	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr18:67992682C>T	ENST00000397942.3	+	2	1094	c.778C>T	c.(778-780)Cgc>Tgc	p.R260C	SOCS6_ENST00000582322.1_Missense_Mutation_p.R260C	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	260					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				AGTGGGAGGGCGCGCTTTCCC	0.542																																					Melanoma(84;1024 1361 24382 36583 42651)	dbGAP											0													106.0	88.0	94.0					18																	67992682		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.778C>T	18.37:g.67992682C>T	ENSP00000381034:p.Arg260Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WUM3	Missense_Mutation	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R260C	ENST00000397942.3	37	c.778	CCDS11998.1	18	.	.	.	.	.	.	.	.	.	.	C	5.082	0.200694	0.09652	.	.	ENSG00000170677	ENST00000397942	T	0.22945	1.93	5.12	-5.18	0.02840	.	1.325450	0.05013	N	0.471331	T	0.13114	0.0318	N	0.08118	0	0.09310	N	1	B	0.28998	0.23	B	0.27796	0.083	T	0.35301	-0.9794	10	0.62326	D	0.03	-0.6151	10.0782	0.42373	0.2917:0.151:0.5573:0.0	.	260	O14544	SOCS6_HUMAN	C	260	ENSP00000381034:R260C	ENSP00000381034:R260C	R	+	1	0	SOCS6	66143662	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.256000	0.18351	-1.082000	0.03101	-0.305000	0.09177	CGC	SOCS6	-	NULL	ENSG00000170677		0.542	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	128	0.00	0	C			67992682	67992682	+1	no_errors	ENST00000397942	ensembl	human	known	69_37n	missense	40	47.44	37	SNP	0.000	T
TMEM80	283232	genome.wustl.edu	37	11	700143	700143	+	Splice_Site	SNP	T	T	C			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr11:700143T>C	ENST00000608174.1	+	3	253	c.116T>C	c.(115-117)cTc>cCc	p.L39P	TMEM80_ENST00000397512.3_Splice_Site_p.L31P|TMEM80_ENST00000397510.3_Splice_Site_p.L87P	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	39						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTCACCAGCTCTCTTCAGTT	0.512																																						dbGAP											0													161.0	120.0	134.0					11																	700143		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.115-1T>C	11.37:g.700143T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.L39P	ENST00000608174.1	37	c.116	CCDS41587.1	11	.	.	.	.	.	.	.	.	.	.	T	15.30	2.792472	0.50102	.	.	ENSG00000177042	ENST00000397510;ENST00000397512;ENST00000526170	D;D	0.90563	-2.69;-1.7	2.72	1.56	0.23342	.	0.000000	0.24554	U	0.037530	D	0.90373	0.6987	L	0.29908	0.895	0.44798	D	0.997808	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.97;0.998;0.996	D	0.88297	0.2947	10	0.72032	D	0.01	-11.7478	8.3829	0.32483	0.0:0.0:0.2165:0.7835	.	14;31;39	E9PQJ9;Q96HE8-2;Q96HE8	.;.;TMM80_HUMAN	P	39;31;14	ENSP00000380646:L39P;ENSP00000380648:L31P	ENSP00000380646:L39P	L	+	2	0	TMEM80	690143	1.000000	0.71417	0.998000	0.56505	0.865000	0.49528	3.207000	0.51106	0.444000	0.26612	0.402000	0.26972	CTC	TMEM80	-	NULL	ENSG00000177042		0.512	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	184	0.00	0	T	NM_174940	Missense_Mutation	700143	700143	+1	no_errors	ENST00000397510	ensembl	human	known	69_37n	missense	84	39.13	54	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	rs587780068		TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr17:7578458G>C	ENST00000269305.4	-	5	661	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000420246.2_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GCCATGGCGCGGACGCGGGTG	0.622		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"""	98	Substitution - Missense(38)|Deletion - Frameshift(26)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Complex - frameshift(2)|Insertion - Frameshift(1)	lung(25)|central_nervous_system(21)|stomach(7)|large_intestine(6)|haematopoietic_and_lymphoid_tissue(6)|skin(6)|upper_aerodigestive_tract(5)|breast(4)|oesophagus(4)|bone(4)|urinary_tract(3)|ovary(2)|pancreas(2)|liver(2)|soft_tissue(1)	GRCh37	CM004341	TP53	M							51.0	52.0	51.0					17																	7578458		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.472C>G	17.37:g.7578458G>C	ENSP00000269305:p.Arg158Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.R158G	ENST00000269305.4	37	c.472	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	G	14.45	2.539522	0.45176	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.59	3.57	0.40892	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99851	0.9931	M	0.92026	3.265	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.999;0.992;0.994;0.998;0.996;0.994;1.0	D	0.97453	1.0029	10	0.87932	D	0	-10.4795	9.778	0.40632	0.0776:0.1408:0.7816:0.0	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	G	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158G;ENSP00000352610:R158G;ENSP00000269305:R158G;ENSP00000398846:R158G;ENSP00000391127:R158G;ENSP00000391478:R158G;ENSP00000425104:R26G;ENSP00000423862:R65G;ENSP00000424104:R158G	ENSP00000269305:R158G	R	-	1	0	TP53	7519183	1.000000	0.71417	0.034000	0.17996	0.178000	0.23041	2.597000	0.46214	0.818000	0.34468	0.655000	0.94253	CGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.622	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	72	0.00	0	G	NM_000546		7578458	7578458	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	12	82.89	63	SNP	0.981	C
ZAN	7455	genome.wustl.edu	37	7	100344246	100344249	+	RNA	DEL	CTGT	CTGT	-			TCGA-BH-A0BT-01A-11D-A12Q-09	TCGA-BH-A0BT-11A-21D-A12Q-09	CTGT	CTGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	2299036e-7099-4b53-9143-5935442c3310	24fe7169-ca64-498d-8445-4fd23dff34a8	g.chr7:100344246_100344249delCTGT	ENST00000348028.3	+	0	1017_1020				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGTCCTCTGGCTGTCTGAGCTTTT	0.554																																						dbGAP											0																																										-	-	-			0			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100344246_100344249delCTGT		Somatic		WXS	Illumina GAIIx	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Frame_Shift_Del	DEL	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom	p.C285fs	ENST00000348028.3	37	c.852_855		7																																																																																			ZAN	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl,smart_MAM_dom,pfscan_MAM_dom	ENSG00000146839		0.554	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	156	0.00	0	CTGT	NM_003386		100344246	100344249	+1	no_errors	ENST00000546292	ensembl	human	known	69_37n	frame_shift_del	79	25.93	28	DEL	0.998:1.000:1.000:0.988	-
