#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AKT3	10000	genome.wustl.edu	37	1	243716076	243716076	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr1:243716076G>C	ENST00000366539.1	-	11	1318	c.1118C>G	c.(1117-1119)gCa>gGa	p.A373G	AKT3_ENST00000263826.5_Missense_Mutation_p.A373G|AKT3_ENST00000336199.5_Missense_Mutation_p.A373G|AKT3_ENST00000366540.1_Missense_Mutation_p.A373G			Q9Y243	AKT3_HUMAN	v-akt murine thymoma viral oncogene homolog 3	373	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitochondrial genome maintenance (GO:0000002)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|skin(3)|stomach(1)	26	all_cancers(71;0.000307)|all_epithelial(71;0.000374)|all_lung(81;0.0323)|Ovarian(71;0.0619)|all_neural(11;0.101)|Lung NSC(105;0.168)	all_cancers(173;0.0274)	all cancers(7;4.3e-08)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00196)			CAATGATTTTGCATCTGAAGA	0.353																																						dbGAP											0													97.0	97.0	97.0					1																	243716076		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124141	CCDS31076.1, CCDS31077.1	1q44	2013-07-09	2013-07-09		ENSG00000117020	ENSG00000117020	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	393	protein-coding gene	gene with protein product	"""protein kinase B, gamma"""	611223				10092583, 10208883	Standard	NM_005465		Approved	PKBG, RAC-gamma, PRKBG	uc001iab.2	Q9Y243	OTTHUMG00000039994	ENST00000366539.1:c.1118C>G	1.37:g.243716076G>C	ENSP00000355497:p.Ala373Gly		Q0VAA6|Q5VTI1|Q5VTI2|Q96QV3|Q9UFP5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom	p.A373G	ENST00000366539.1	37	c.1118	CCDS31077.1	1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.821113	0.71028	.	.	ENSG00000117020	ENST00000336199;ENST00000366540;ENST00000366539;ENST00000263826	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.38	5.38	0.77491	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.65943	0.2740	L	0.45137	1.4	0.80722	D	1	B;B	0.23442	0.085;0.034	B;B	0.32533	0.147;0.09	T	0.63825	-0.6549	10	0.54805	T	0.06	.	19.1357	0.93428	0.0:0.0:1.0:0.0	.	373;373	Q9Y243;Q9Y243-2	AKT3_HUMAN;.	G	373	ENSP00000336943:A373G;ENSP00000355498:A373G;ENSP00000355497:A373G;ENSP00000263826:A373G	ENSP00000263826:A373G	A	-	2	0	AKT3	241782699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.855000	0.99526	2.525000	0.85131	0.557000	0.71058	GCA	AKT3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000117020		0.353	AKT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKT3	HGNC	protein_coding	OTTHUMT00000096479.1	63	0.00	0	G	NM_181690		243716076	243716076	-1	no_errors	ENST00000263826	ensembl	human	known	69_37n	missense	55	12.70	8	SNP	1.000	C
AP3S1	1176	genome.wustl.edu	37	5	115177803	115177804	+	Splice_Site	INS	-	-	A	rs377617825		TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr5:115177803_115177804insA	ENST00000316788.7	+	1	626	c.69_69insA	c.(70-72)agt>agAt	p.S24fs	ATG12_ENST00000274459.4_5'Flank|ATG12_ENST00000509910.1_5'Flank|ATG12_ENST00000500945.2_5'Flank|ATG12_ENST00000509598.1_5'Flank	NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	24					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|insulin receptor signaling pathway (GO:0008286)|intracellular protein transport (GO:0006886)	AP-3 adaptor complex (GO:0030123)|AP-type membrane coat adaptor complex (GO:0030119)|Golgi apparatus (GO:0005794)|transport vesicle (GO:0030133)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		ACCAGCCCTACGTGAGTATCCA	0.683																																						dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			D63643	CCDS4123.1	5q22	2010-06-29			ENSG00000177879	ENSG00000177879			2013	protein-coding gene	gene with protein product		601507		CLAPS3		8697810, 9118953	Standard	NM_001284		Approved		uc003krl.3	Q92572	OTTHUMG00000128887	ENST00000316788.7:c.69+1->A	5.37:g.115177803_115177804insA			O00647|O00676|O00721|O00727|Q53XL4|Q6ICQ2	Frame_Shift_Ins	INS	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	p.S23fs	ENST00000316788.7	37	c.69_70	CCDS4123.1	5																																																																																			AP3S1	-	pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu	ENSG00000177879		0.683	AP3S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3S1	HGNC	protein_coding	OTTHUMT00000250847.2	9	0.00	0	-		Frame_Shift_Ins	115177803	115177804	+1	no_errors	ENST00000316788	ensembl	human	known	69_37n	frame_shift_ins	3	40.00	2	INS	1.000:1.000	A
BMPR2	659	genome.wustl.edu	37	2	203417599	203417599	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr2:203417599T>A	ENST00000374580.4	+	11	2113	c.1574T>A	c.(1573-1575)aTg>aAg	p.M525K	BMPR2_ENST00000374574.2_Missense_Mutation_p.M525K	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	525					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TCTACTGCTATGCAGAATGAA	0.403																																						dbGAP											0													103.0	93.0	97.0					2																	203417599		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1574T>A	2.37:g.203417599T>A	ENSP00000363708:p.Met525Lys		Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.M525K	ENST00000374580.4	37	c.1574	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	T	18.42	3.619854	0.66787	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.88509	-2.39;-2.33	5.48	5.48	0.80851	.	0.245141	0.49305	D	0.000144	T	0.78805	0.4341	N	0.08118	0	0.53688	D	0.999975	B;B	0.28470	0.213;0.058	B;B	0.20384	0.029;0.016	T	0.78125	-0.2326	10	0.59425	D	0.04	.	15.5618	0.76256	0.0:0.0:0.0:1.0	.	525;525	Q13161;Q13873	.;BMPR2_HUMAN	K	525	ENSP00000363708:M525K;ENSP00000363702:M525K	ENSP00000363702:M525K	M	+	2	0	BMPR2	203125844	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.841000	0.86834	2.077000	0.62373	0.402000	0.26972	ATG	BMPR2	-	NULL	ENSG00000204217		0.403	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	28	0.00	0	T	NM_001204		203417599	203417599	+1	no_errors	ENST00000374580	ensembl	human	known	69_37n	missense	16	15.79	3	SNP	1.000	A
CCZ1	51622	genome.wustl.edu	37	7	5944844	5944844	+	Missense_Mutation	SNP	G	G	C	rs143367105		TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr7:5944844G>C	ENST00000325974.6	+	7	708	c.642G>C	c.(640-642)gaG>gaC	p.E214D	CCZ1_ENST00000537980.1_Missense_Mutation_p.E71D	NM_015622.5	NP_056437.4	P86791	CCZ1_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog (S. cerevisiae)	214						lysosome (GO:0005764)|membrane (GO:0016020)				large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	6						ATAGAATGGAGGAAAGCCTGA	0.373																																						dbGAP											0													23.0	23.0	23.0					7																	5944844		2133	4264	6397	-	-	-	SO:0001583	missense	0			AF151801	CCDS34597.1	7p22.1	2014-02-13	2010-06-29	2010-06-29	ENSG00000122674	ENSG00000122674			21691	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 28A"""	C7orf28A		10810093, 20305638	Standard	NM_015622		Approved	CGI-43, CCZ1A	uc003spf.3	P86791	OTTHUMG00000155502	ENST00000325974.6:c.642G>C	7.37:g.5944844G>C	ENSP00000325681:p.Glu214Asp		A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.E214D	ENST00000325974.6	37	c.642	CCDS34597.1	7	.	.	.	.	.	.	.	.	.	.	G	20.6	4.012042	0.75046	.	.	ENSG00000122674	ENST00000325974;ENST00000537980	.	.	.	5.85	-1.28	0.09318	.	0.000000	0.85682	D	0.000000	T	0.60702	0.2289	L	0.46741	1.465	0.50813	D	0.999896	D	0.60575	0.988	P	0.62491	0.903	T	0.57106	-0.7868	9	0.35671	T	0.21	-24.4133	10.9601	0.47381	0.7898:0.0:0.2102:0.0	.	214	P86790	CCZ1L_HUMAN	D	214;71	.	ENSP00000325681:E214D	E	+	3	2	CCZ1	5911370	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	0.953000	0.29162	-0.118000	0.11851	0.650000	0.86243	GAG	CCZ1	-	pfam_DUF1712_fun	ENSG00000122674		0.373	CCZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1	HGNC	protein_coding	OTTHUMT00000340391.1	46	0.00	0	G	NM_015622		5944844	5944844	+1	no_errors	ENST00000325974	ensembl	human	known	69_37n	missense	25	16.67	5	SNP	0.994	C
CDH1	999	genome.wustl.edu	37	16	68835665	68835666	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	AA	AA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr16:68835665_68835666delAA	ENST00000261769.5	+	3	447_448	c.256_257delAA	c.(256-258)aaafs	p.K86fs	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Frame_Shift_Del_p.K86fs	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	86					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GATTACAGTCAAAAGGCCTCTA	0.48			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	2	Unknown(2)	breast(2)																																								-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.256_257delAA	16.37:g.68835667_68835668delAA	ENSP00000261769:p.Lys86fs		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Frame_Shift_Del	DEL	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R87fs	ENST00000261769.5	37	c.256_257	CCDS10869.1	16																																																																																			CDH1	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000039068		0.480	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	67	0.00	0	AA	NM_004360		68835665	68835666	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	frame_shift_del	41	10.87	5	DEL	1.000:0.727	-
FAM131C	348487	genome.wustl.edu	37	1	16386447	16386447	+	Missense_Mutation	SNP	G	G	C	rs11576236	byFrequency	TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr1:16386447G>C	ENST00000375662.4	-	5	551	c.368C>G	c.(367-369)cCg>cGg	p.P123R	FAM131C_ENST00000494078.1_5'UTR	NM_182623.2	NP_872429.2	Q96AQ9	F131C_HUMAN	family with sequence similarity 131, member C	123			P -> R (in dbSNP:rs11576236). {ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334}.							large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGCCTGCCGGCTGGGCACT	0.672													C|||	4587	0.915935	0.9531	0.9337	5008	,	,		9506	0.8185		0.9662	False		,,,				2504	0.9018					dbGAP											0													13.0	14.0	13.0					1																	16386447		2050	4166	6216	-	-	-	SO:0001583	missense	0				CCDS41270.1	1p36.13	2008-02-05	2007-03-20	2007-03-20	ENSG00000185519	ENSG00000185519			26717	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 117"""	C1orf117		12477932	Standard	NM_182623		Approved	FLJ36766	uc001axz.4	Q96AQ9	OTTHUMG00000009525	ENST00000375662.4:c.368C>G	1.37:g.16386447G>C	ENSP00000364814:p.Pro123Arg		Q5T5Q5|Q8N3X3|Q8N9P9	Missense_Mutation	SNP	superfamily_Chromodomain-like	p.P123R	ENST00000375662.4	37	c.368	CCDS41270.1	1	1925	0.8814102564102564	455	0.9247967479674797	328	0.9060773480662984	448	0.7832167832167832	694	0.9155672823218998	C	0.250	-1.007094	0.02112	.	.	ENSG00000185519	ENST00000375662	T	0.28454	1.61	4.72	-1.32	0.09201	.	1.181070	0.06103	N	0.665717	T	0.00012	0.0000	N	0.00677	-1.265	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.21895	-1.0232	9	0.09084	T	0.74	-0.301	6.6094	0.22743	0.0:0.321:0.1326:0.5464	rs61731128	123	Q96AQ9	F131C_HUMAN	R	123	ENSP00000364814:P123R	ENSP00000364814:P123R	P	-	2	0	FAM131C	16259034	0.000000	0.05858	0.001000	0.08648	0.507000	0.33981	-0.952000	0.03881	-0.406000	0.07588	-1.020000	0.02445	CCG	FAM131C	-	superfamily_Chromodomain-like	ENSG00000185519		0.672	FAM131C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM131C	HGNC	protein_coding	OTTHUMT00000026319.1	12	0.00	0	G	NM_182623		16386447	16386447	-1	no_errors	ENST00000375662	ensembl	human	known	69_37n	missense	4	60.00	6	SNP	0.000	C
GRM1	2911	genome.wustl.edu	37	6	146720188	146720188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr6:146720188C>A	ENST00000282753.1	+	7	2248	c.2013C>A	c.(2011-2013)tgC>tgA	p.C671*	GRM1_ENST00000392299.2_Nonsense_Mutation_p.C671*|GRM1_ENST00000361719.2_Nonsense_Mutation_p.C671*|GRM1_ENST00000492807.2_Nonsense_Mutation_p.C671*|GRM1_ENST00000355289.4_Nonsense_Mutation_p.C671*|GRM1_ENST00000507907.1_Nonsense_Mutation_p.C671*			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	671					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTGCGATGTGCTACTCTGCTT	0.532																																						dbGAP											0													300.0	281.0	288.0					6																	146720188		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.2013C>A	6.37:g.146720188C>A	ENSP00000282753:p.Cys671*		B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Nonsense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_1,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_5,pfscan_GPCR_3_C	p.C671*	ENST00000282753.1	37	c.2013	CCDS5209.1	6	.	.	.	.	.	.	.	.	.	.	C	42	9.733817	0.99251	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	.	.	.	5.51	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.393	0.44184	0.0:0.8501:0.0:0.1499	.	.	.	.	X	671	.	ENSP00000282753:C671X	C	+	3	2	GRM1	146761881	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.102000	0.57776	1.328000	0.45358	0.585000	0.79938	TGC	GRM1	-	pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C	ENSG00000152822		0.532	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM1	HGNC	protein_coding	OTTHUMT00000042574.1	58	0.00	0	C	NM_000838		146720188	146720188	+1	no_errors	ENST00000282753	ensembl	human	known	69_37n	nonsense	36	12.20	5	SNP	1.000	A
KRTAP4-7	100132476	genome.wustl.edu	37	17	39240627	39240627	+	Missense_Mutation	SNP	T	T	C	rs189343211		TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr17:39240627T>C	ENST00000391417.4	+	1	169	c.169T>C	c.(169-171)Tct>Cct	p.S57P		NM_033061.3	NP_149050.3	Q9BYR0	KRA47_HUMAN	keratin associated protein 4-7	57	31 X 5 AA repeats of C-C-[GIKRQVHEML]- [SPTRV]-[STVQRCP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.S57P(4)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						GTGCTGCCAGTCTGTGTGCTG	0.667																																						dbGAP											4	Substitution - Missense(4)	urinary_tract(2)|kidney(2)											18.0	28.0	25.0					17																	39240627		691	1590	2281	-	-	-	SO:0001583	missense	0			AJ406939	CCDS45673.1	17q21.2	2013-06-25			ENSG00000240871	ENSG00000240871		"""Keratin associated proteins"""	18898	protein-coding gene	gene with protein product						11279113	Standard	NM_033061		Approved	KAP4.7	uc010wfn.2	Q9BYR0	OTTHUMG00000133582	ENST00000391417.4:c.169T>C	17.37:g.39240627T>C	ENSP00000375236:p.Ser57Pro		A0AVM6|A8MQ08|A8MTL4	Missense_Mutation	SNP	pfam_Keratin-assoc	p.S57P	ENST00000391417.4	37	c.169	CCDS45673.1	17	.	.	.	.	.	.	.	.	.	.	.	0.387	-0.925721	0.02377	.	.	ENSG00000240871;ENSG00000212722	ENST00000391417;ENST00000377734	T	0.01272	5.07	3.6	-0.386	0.12466	.	1.254490	0.05892	N	0.628448	T	0.00695	0.0023	.	.	.	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.43572	-0.9383	9	0.02654	T	1	.	4.4551	0.11639	0.0:0.4346:0.1731:0.3923	.	57	Q9BYR0	KRA47_HUMAN	P	57	ENSP00000375236:S57P	ENSP00000375236:S57P	S	+	1	0	KRTAP4-9;KRTAP4-7	36494153	0.000000	0.05858	0.033000	0.17914	0.157000	0.22087	-0.806000	0.04525	0.004000	0.14682	0.374000	0.22700	TCT	KRTAP4-7	-	pfam_Keratin-assoc	ENSG00000240871		0.667	KRTAP4-7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP4-7	HGNC	protein_coding	OTTHUMT00000257686.1	44	0.00	0	T			39240627	39240627	+1	no_errors	ENST00000391417	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.032	C
MAP3K1	4214	genome.wustl.edu	37	5	56176593	56176594	+	Frame_Shift_Ins	INS	-	-	GA			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr5:56176593_56176594insGA	ENST00000399503.3	+	12	2143_2144	c.2143_2144insGA	c.(2143-2145)ggafs	p.G715fs		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	715					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AGGCCAAGCAGGAGAGTTGGCA	0.401																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2146_2147dupGA	5.37:g.56176596_56176597dupGA	ENSP00000382423:p.Gly715fs			Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.L717fs	ENST00000399503.3	37	c.2143_2144	CCDS43318.1	5																																																																																			MAP3K1	-	superfamily_ARM-type_fold	ENSG00000095015		0.401	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	76	0.00	0	-	XM_042066		56176593	56176594	+1	no_errors	ENST00000399503	ensembl	human	novel	69_37n	frame_shift_ins	66	13.16	10	INS	1.000:1.000	GA
PDE4DIP	9659	genome.wustl.edu	37	1	145075903	145075903	+	5'UTR	SNP	C	C	T	rs2596336	byFrequency	TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr1:145075903C>T	ENST00000369348.3	-	0	283				PDE4DIP_ENST00000530740.1_5'Flank|PDE4DIP_ENST00000369359.4_5'Flank|PDE4DIP_ENST00000369345.4_5'UTR	NM_022359.5	NP_071754.3	Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCTACGGTTCCTGCTTGTTT	0.657			T	PDGFRB	MPD								C|||	1626	0.324681	0.1051	0.4179	5008	,	,		56085	0.4256		0.3986	False		,,,				2504	0.3753					dbGAP		Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													20.0	23.0	22.0					1																	145075903		2192	4287	6479	-	-	-	SO:0001623	5_prime_UTR_variant	0			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369348.3:c.-41G>A	1.37:g.145075903C>T			A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	RNA	SNP	-	NULL	ENST00000369348.3	37	NULL	CCDS30827.1	1																																																																																			PDE4DIP	-	-	ENSG00000178104		0.657	PDE4DIP-008	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038863.3	11	0.00	0	C	NM_022359		145075903	145075903	-1	no_errors	ENST00000528552	ensembl	human	known	69_37n	rna	12	25.00	4	SNP	0.002	T
PTEN	5728	genome.wustl.edu	37	10	89711975	89711975	+	Missense_Mutation	SNP	T	T	A			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr10:89711975T>A	ENST00000371953.3	+	6	1950	c.593T>A	c.(592-594)aTg>aAg	p.M198K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	198	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.M198del(3)|p.Y27fs*1(2)|p.M198K(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTCACAAGATGATGTTTGAA	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	56	Whole gene deletion(37)|Deletion - Frameshift(10)|Deletion - In frame(4)|Unknown(4)|Substitution - Missense(1)	central_nervous_system(16)|prostate(16)|skin(8)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)											156.0	155.0	155.0					10																	89711975		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.593T>A	10.37:g.89711975T>A	ENSP00000361021:p.Met198Lys		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.M198K	ENST00000371953.3	37	c.593	CCDS31238.1	10	.	.	.	.	.	.	.	.	.	.	T	21.0	4.084611	0.76642	.	.	ENSG00000171862	ENST00000371953	D	0.85484	-1.99	5.85	5.85	0.93711	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.068551	0.85682	D	0.000000	D	0.83348	0.5235	L	0.44542	1.39	0.80722	D	1	B	0.30937	0.301	B	0.38921	0.285	T	0.79969	-0.1579	9	.	.	.	-3.5893	16.2416	0.82411	0.0:0.0:0.0:1.0	.	198	P60484	PTEN_HUMAN	K	198	ENSP00000361021:M198K	.	M	+	2	0	PTEN	89701955	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.615000	0.83006	2.241000	0.73720	0.477000	0.44152	ATG	PTEN	-	pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom	ENSG00000171862		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	57	0.00	0	T	NM_000314		89711975	89711975	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	missense	39	15.22	7	SNP	1.000	A
QRICH1	54870	genome.wustl.edu	37	3	49095083	49095083	+	Missense_Mutation	SNP	C	C	T	rs531085975		TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr3:49095083C>T	ENST00000395443.2	-	3	1022	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	QRICH1_ENST00000424300.1_Missense_Mutation_p.E184K|QRICH1_ENST00000479449.1_Intron|QRICH1_ENST00000357496.2_Missense_Mutation_p.E184K	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	184	Gln-rich.					nucleus (GO:0005634)		p.E184*(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TCCGGGATTTCTGCAGCCTGG	0.602																																						dbGAP											1	Substitution - Nonsense(1)	lung(1)											92.0	92.0	92.0					3																	49095083		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.550G>A	3.37:g.49095083C>T	ENSP00000378830:p.Glu184Lys		Q4G0F7|Q7L621|Q8TEA5	Missense_Mutation	SNP	pfam_DUF3504,superfamily_DEATH-like	p.E184K	ENST00000395443.2	37	c.550	CCDS2787.1	3	.	.	.	.	.	.	.	.	.	.	C	16.29	3.080798	0.55753	.	.	ENSG00000198218	ENST00000395443;ENST00000357496;ENST00000424300	.	.	.	5.89	5.89	0.94794	.	0.139527	0.64402	D	0.000004	T	0.50497	0.1619	N	0.14661	0.345	0.47905	D	0.999541	B	0.09022	0.002	B	0.04013	0.001	T	0.43097	-0.9412	9	0.59425	D	0.04	-4.615	20.2527	0.98410	0.0:1.0:0.0:0.0	.	184	Q2TAL8	QRIC1_HUMAN	K	184	.	ENSP00000350094:E184K	E	-	1	0	QRICH1	49070087	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.759000	0.55227	2.788000	0.95919	0.557000	0.71058	GAA	QRICH1	-	NULL	ENSG00000198218		0.602	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QRICH1	HGNC	protein_coding	OTTHUMT00000345669.1	44	0.00	0	C	NM_017730		49095083	49095083	-1	no_errors	ENST00000357496	ensembl	human	known	69_37n	missense	25	13.79	4	SNP	1.000	T
RPTOR	57521	genome.wustl.edu	37	17	78865584	78865584	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr17:78865584T>C	ENST00000306801.3	+	18	2410	c.2048T>C	c.(2047-2049)cTg>cCg	p.L683P	RPTOR_ENST00000544334.2_Missense_Mutation_p.L525P|RPTOR_ENST00000575542.1_3'UTR	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	683					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						ACCGTGGCCCTGCAGTTCATA	0.547																																						dbGAP											0													157.0	133.0	141.0					17																	78865584		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2048T>C	17.37:g.78865584T>C	ENSP00000307272:p.Leu683Pro		B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.L683P	ENST00000306801.3	37	c.2048	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	T	19.39	3.818019	0.71028	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.50001	0.8;0.76	4.69	3.62	0.41486	Armadillo-like helical (1);Armadillo-type fold (1);	0.087845	0.42682	D	0.000664	T	0.59004	0.2162	L	0.49126	1.545	0.80722	D	1	D;D	0.69078	0.997;0.997	D;P	0.80764	0.994;0.795	T	0.56860	-0.7909	10	0.48119	T	0.1	.	10.1179	0.42603	0.0:0.079:0.0:0.921	.	525;683	F5H7J5;Q8N122	.;RPTOR_HUMAN	P	683;525	ENSP00000307272:L683P;ENSP00000442479:L525P	ENSP00000307272:L683P	L	+	2	0	RPTOR	76480179	1.000000	0.71417	0.977000	0.42913	0.987000	0.75469	5.707000	0.68370	0.835000	0.34877	0.482000	0.46254	CTG	RPTOR	-	superfamily_ARM-type_fold	ENSG00000141564		0.547	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	33	0.00	0	T	NM_020761		78865584	78865584	+1	no_errors	ENST00000306801	ensembl	human	known	69_37n	missense	36	10.00	4	SNP	1.000	C
STK39	27347	genome.wustl.edu	37	2	168869176	168869176	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr2:168869176G>T	ENST00000355999.4	-	16	2171	c.1466C>A	c.(1465-1467)gCt>gAt	p.A489D	STK39_ENST00000487143.1_5'UTR	NM_013233.2	NP_037365.2	Q9UEW8	STK39_HUMAN	serine threonine kinase 39	489					cellular hypotonic response (GO:0071476)|intracellular signal transduction (GO:0035556)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of rubidium ion transmembrane transporter activity (GO:2000687)|negative regulation of rubidium ion transport (GO:2000681)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of potassium ion transport (GO:0043268)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|response to stress (GO:0006950)|signal transduction by phosphorylation (GO:0023014)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	13						CACCAAGCCAGCAGAGAAGAG	0.353																																						dbGAP											0													80.0	77.0	78.0					2																	168869176		1922	4155	6077	-	-	-	SO:0001583	missense	0			AF099989	CCDS42770.1	2q24.3	2010-06-25	2010-06-25		ENSG00000198648	ENSG00000198648			17717	protein-coding gene	gene with protein product	"""STE20/SPS1 homolog (yeast)"""	607648				10980603	Standard	NM_013233		Approved	DCHT, SPAK	uc002uea.3	Q9UEW8	OTTHUMG00000133745	ENST00000355999.4:c.1466C>A	2.37:g.168869176G>T	ENSP00000348278:p.Ala489Asp		O14774|Q53S90|Q53SL7|Q53SS1|Q9UER4|X5D9C8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A489D	ENST00000355999.4	37	c.1466	CCDS42770.1	2	.	.	.	.	.	.	.	.	.	.	G	21.8	4.205808	0.79127	.	.	ENSG00000198648	ENST00000355999	T	0.31510	1.49	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	T	0.60301	0.2258	M	0.80183	2.485	0.58432	D	0.999998	D	0.76494	0.999	D	0.72625	0.978	T	0.61758	-0.6997	10	0.72032	D	0.01	-15.0391	18.7754	0.91910	0.0:0.0:1.0:0.0	.	489	Q9UEW8	STK39_HUMAN	D	489	ENSP00000348278:A489D	ENSP00000348278:A489D	A	-	2	0	STK39	168577422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.125000	0.89590	2.873000	0.98535	0.563000	0.77884	GCT	STK39	-	NULL	ENSG00000198648		0.353	STK39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK39	HGNC	protein_coding	OTTHUMT00000258112.2	48	0.00	0	G	NM_013233		168869176	168869176	-1	no_errors	ENST00000355999	ensembl	human	known	69_37n	missense	39	13.33	6	SNP	1.000	T
ZNF676	163223	genome.wustl.edu	37	19	22363737	22363737	+	Missense_Mutation	SNP	C	C	G	rs572031376	byFrequency	TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr19:22363737C>G	ENST00000397121.2	-	3	1099	c.782G>C	c.(781-783)gGa>gCa	p.G261A		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GCTACTAAATCCTTTGCCACA	0.393													G|||	17	0.00339457	0.0015	0.0029	5008	,	,		24868	0.0089		0.003	False		,,,				2504	0.001					dbGAP											0													89.0	96.0	93.0					19																	22363737		2158	4274	6432	-	-	-	SO:0001583	missense	0			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.782G>C	19.37:g.22363737C>G	ENSP00000380310:p.Gly261Ala		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G261A	ENST00000397121.2	37	c.782	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	0.001	-3.455683	0.00012	.	.	ENSG00000196109	ENST00000397121	T	0.35236	1.32	0.81	-1.62	0.08372	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.09247	0.0228	N	0.00788	-1.185	0.09310	N	1	B	0.11235	0.004	B	0.14023	0.01	T	0.28996	-1.0026	9	0.02654	T	1	.	8.4431	0.32826	0.0:0.685:0.315:0.0	.	261	Q8N7Q3	ZN676_HUMAN	A	261	ENSP00000380310:G261A	ENSP00000380310:G261A	G	-	2	0	ZNF676	22155577	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.024000	0.12435	-1.409000	0.02038	-1.398000	0.01145	GGA	ZNF676	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000196109		0.393	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	43	0.00	0	C	NM_001001411		22363737	22363737	-1	no_errors	ENST00000397121	ensembl	human	known	69_37n	missense	43	12.24	6	SNP	0.018	G
ZNF223	7766	genome.wustl.edu	37	19	44570584	44570584	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A2FF-01A-11D-A17D-09	TCGA-AC-A2FF-11A-13D-A17D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	81c6c068-2e8f-4130-a49d-099bdcf5f9f7	b5158fe2-6b24-4c31-907f-651d80f35943	g.chr19:44570584G>C	ENST00000434772.3	+	5	858	c.603G>C	c.(601-603)gaG>gaC	p.E201D	ZNF223_ENST00000591793.1_Missense_Mutation_p.E311D	NM_013361.4	NP_037493.3	Q9UK11	ZN223_HUMAN	zinc finger protein 223	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				ACCTGGGAGAGAAACTCTTTA	0.428																																						dbGAP											0													131.0	132.0	132.0					19																	44570584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF187989	CCDS12635.1	19q13.2	2013-01-08				ENSG00000178386		"""Zinc fingers, C2H2-type"", ""-"""	13016	protein-coding gene	gene with protein product							Standard	XM_006723365		Approved		uc002oyf.1	Q9UK11		ENST00000434772.3:c.603G>C	19.37:g.44570584G>C	ENSP00000401947:p.Glu201Asp		Q15736|Q8TBJ3|Q9HCA9	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E311D	ENST00000434772.3	37	c.933	CCDS12635.1	19	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136924	0.56936	.	.	ENSG00000178386	ENST00000434772	T	0.26810	1.71	2.46	1.39	0.22231	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.23688	0.0573	L	0.58925	1.835	0.80722	D	1	B	0.02656	0.0	B	0.10450	0.005	T	0.06267	-1.0836	9	0.54805	T	0.06	.	8.0151	0.30376	0.1348:0.0:0.8652:0.0	.	201	Q9UK11	ZN223_HUMAN	D	201	ENSP00000401947:E201D	ENSP00000401947:E201D	E	+	3	2	ZNF223	49262424	0.152000	0.22762	0.023000	0.16930	0.950000	0.60333	-0.020000	0.12525	0.352000	0.24053	0.313000	0.20887	GAG	AC084219.2	-	pfscan_Znf_C2H2	ENSG00000267022		0.428	ZNF223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF223	Clone_based_vega_gene	protein_coding	OTTHUMT00000460469.2	42	0.00	0	G			44570584	44570584	+1	no_errors	ENST00000591793	ensembl	human	known	69_37n	missense	46	14.81	8	SNP	1.000	C
