#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
ADAMTSL3	57188	genome.wustl.edu	37	15	84373178	84373178	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr15:84373178C>T	ENST00000286744.5	+	3	331	c.107C>T	c.(106-108)cCc>cTc	p.P36L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.P36L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	36						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TATTTCCTTCCCGAGTTTGCA	0.463																																						dbGAP											0													190.0	193.0	192.0					15																	84373178		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.107C>T	15.37:g.84373178C>T	ENSP00000286744:p.Pro36Leu		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.P36L	ENST00000286744.5	37	c.107	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238060	0.79800	.	.	ENSG00000156218	ENST00000286744	T	0.64803	-0.12	5.56	5.56	0.83823	.	0.578355	0.15051	N	0.283304	T	0.77329	0.4114	L	0.51422	1.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.77422	-0.2594	10	0.87932	D	0	.	19.5451	0.95291	0.0:1.0:0.0:0.0	.	36;36	P82987-2;P82987	.;ATL3_HUMAN	L	36	ENSP00000286744:P36L	ENSP00000286744:P36L	P	+	2	0	ADAMTSL3	82164182	1.000000	0.71417	0.989000	0.46669	0.583000	0.36354	5.961000	0.70356	2.629000	0.89072	0.655000	0.94253	CCC	ADAMTSL3	-	NULL	ENSG00000156218		0.463	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	197	0.00	0	C	NM_207517		84373178	84373178	+1	no_errors	ENST00000286744	ensembl	human	known	69_37n	missense	242	10.04	27	SNP	1.000	T
ALPP	250	genome.wustl.edu	37	2	233246249	233246249	+	Missense_Mutation	SNP	A	A	G	rs1048994		TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr2:233246249A>G	ENST00000392027.2	+	11	1621	c.1352A>G	c.(1351-1353)gAa>gGa	p.E451G	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	451			E -> G (in dbSNP:rs1048994).		dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CCCCTGGACGAAGAGACCCAC	0.652																																						dbGAP											0													29.0	32.0	31.0					2																	233246249		2202	4300	6502	-	-	-	SO:0001583	missense	0			M14169	CCDS2490.1	2q37.1	2010-06-24	2010-06-24		ENSG00000163283	ENSG00000163283	3.1.3.1		439	protein-coding gene	gene with protein product	"""Regan isozyme"""	171800	"""alkaline phosphatase, placental (Regan isozyme)"""			3001717, 3461452	Standard	XM_005246439		Approved		uc002vsq.3	P05187	OTTHUMG00000133255	ENST00000392027.2:c.1352A>G	2.37:g.233246249A>G	ENSP00000375881:p.Glu451Gly		P05188|P06861|Q53S78|Q96DB7	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.E451G	ENST00000392027.2	37	c.1352	CCDS2490.1	2	.	.	.	.	.	.	.	.	.	.	A	9.569	1.120522	0.20877	.	.	ENSG00000163283	ENST00000392027	D	0.95788	-3.81	2.35	0.169	0.15017	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.915038	0.09277	N	0.824307	D	0.85204	0.5643	N	0.04297	-0.235	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.74137	-0.3762	10	0.27082	T	0.32	.	3.4287	0.07420	0.1752:0.5616:0.1571:0.1061	rs1048994;rs2678507;rs3189067;rs17416148	451	P05187	PPB1_HUMAN	G	451	ENSP00000375881:E451G	ENSP00000375881:E451G	E	+	2	0	ALPP	232954493	0.000000	0.05858	0.003000	0.11579	0.183000	0.23260	0.070000	0.14573	-0.126000	0.11682	0.254000	0.18369	GAA	ALPP	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase	ENSG00000163283		0.652	ALPP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPP	HGNC	protein_coding	OTTHUMT00000257032.3	19	0.00	0	A	NM_001632		233246249	233246249	+1	no_errors	ENST00000392027	ensembl	human	known	69_37n	missense	13	23.53	4	SNP	0.001	G
ANKRD12	23253	genome.wustl.edu	37	18	9211612	9211612	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr18:9211612C>T	ENST00000262126.4	+	6	722	c.482C>T	c.(481-483)aCg>aTg	p.T161M	ANKRD12_ENST00000540578.2_3'UTR|ANKRD12_ENST00000383440.2_Missense_Mutation_p.T138M|ANKRD12_ENST00000400020.3_Missense_Mutation_p.T138M	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	161						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TCACAAACAACGCCTGCCCAA	0.343																																						dbGAP											0													67.0	68.0	68.0					18																	9211612		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.482C>T	18.37:g.9211612C>T	ENSP00000262126:p.Thr161Met		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T161M	ENST00000262126.4	37	c.482	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943437	0.53079	.	.	ENSG00000101745	ENST00000383440;ENST00000546007;ENST00000262126;ENST00000540578	T;T	0.05717	3.47;3.4	5.83	5.83	0.93111	.	0.165039	0.53938	D	0.000053	T	0.14570	0.0352	N	0.19112	0.55	0.58432	D	0.999999	D;D;D	0.89917	0.999;1.0;1.0	P;D;P	0.63488	0.745;0.915;0.825	T	0.02661	-1.1127	10	0.87932	D	0	-22.9438	20.1162	0.97934	0.0:1.0:0.0:0.0	.	161;138;161	Q6PG48;Q6UB98-2;Q6UB98	.;.;ANR12_HUMAN	M	138;138;161;161	ENSP00000372932:T138M;ENSP00000262126:T161M	ENSP00000262126:T161M	T	+	2	0	ANKRD12	9201612	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.717000	0.68446	2.756000	0.94617	0.655000	0.94253	ACG	ANKRD12	-	NULL	ENSG00000101745		0.343	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	199	0.00	0	C	NM_015208		9211612	9211612	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	missense	123	34.92	66	SNP	1.000	T
AP4M1	9179	genome.wustl.edu	37	7	99701247	99701247	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr7:99701247A>G	ENST00000359593.4	+	6	633	c.475A>G	c.(475-477)Aca>Gca	p.T159A	AP4M1_ENST00000421755.1_Missense_Mutation_p.T159A|MCM7_ENST00000303887.5_5'Flank|AP4M1_ENST00000422582.1_Missense_Mutation_p.T31A|MCM7_ENST00000354230.3_5'Flank|MCM7_ENST00000343023.6_5'Flank|AP4M1_ENST00000429084.1_Missense_Mutation_p.T166A	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	159					Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGGGCTGAGACACAACAGAG	0.572																																					Pancreas(174;1182 2812 29595 49511)	dbGAP											0													161.0	182.0	175.0					7																	99701247		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.475A>G	7.37:g.99701247A>G	ENSP00000352603:p.Thr159Ala		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.T159A	ENST00000359593.4	37	c.475	CCDS5685.1	7	.	.	.	.	.	.	.	.	.	.	A	15.33	2.800638	0.50315	.	.	ENSG00000221838	ENST00000438383;ENST00000429084;ENST00000359593;ENST00000439416;ENST00000421755;ENST00000422582	T;T;T;T;T;T	0.77620	-1.09;-1.11;-1.11;-1.09;-1.11;-1.03	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.68604	0.3019	N	0.08118	0	0.58432	D	0.999999	P;D;D;D	0.67145	0.915;0.958;0.996;0.996	B;B;P;P	0.58266	0.344;0.341;0.836;0.836	T	0.64918	-0.6294	10	0.09590	T	0.72	-23.0994	12.1925	0.54278	1.0:0.0:0.0:0.0	.	115;111;166;159	C9JMG3;B4DKN7;C9JC87;O00189	.;.;.;AP4M1_HUMAN	A	91;166;159;115;159;31	ENSP00000401613:T91A;ENSP00000403663:T166A;ENSP00000352603:T159A;ENSP00000414286:T115A;ENSP00000412185:T159A;ENSP00000406676:T31A	ENSP00000352603:T159A	T	+	1	0	AP4M1	99539183	1.000000	0.71417	0.996000	0.52242	0.945000	0.59286	7.948000	0.87774	1.970000	0.57323	0.379000	0.24179	ACA	AP4M1	-	pirsf_Clathrin_mu	ENSG00000221838		0.572	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4M1	HGNC	protein_coding	OTTHUMT00000336772.4	158	0.00	0	A	NM_004722		99701247	99701247	+1	no_errors	ENST00000359593	ensembl	human	known	69_37n	missense	67	25.56	23	SNP	1.000	G
ASMTL	8623	genome.wustl.edu	37	X	1522340	1522340	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chrX:1522340T>G	ENST00000381317.3	-	13	1720	c.1688A>C	c.(1687-1689)aAg>aCg	p.K563T	ASMTL-AS1_ENST00000443929.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000381333.4_Missense_Mutation_p.K547T|ASMTL_ENST00000534940.1_Missense_Mutation_p.K505T|ASMTL-AS1_ENST00000419737.2_RNA|ASMTL_ENST00000416733.2_Missense_Mutation_p.K487T|ASMTL-AS1_ENST00000602357.1_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	563	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGCCACCCTCTTCTCCTCATC	0.647																																						dbGAP											0													69.0	76.0	74.0					X																	1522340		2105	4232	6337	-	-	-	SO:0001583	missense	0			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1688A>C	X.37:g.1522340T>G	ENSP00000370718:p.Lys563Thr		B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Missense_Mutation	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.K563T	ENST00000381317.3	37	c.1688	CCDS43917.1	X	.	.	.	.	.	.	.	.	.	.	t	9.006	0.981206	0.18812	.	.	ENSG00000169093	ENST00000416733;ENST00000534940;ENST00000381333;ENST00000381317	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	1.18	-2.36	0.06663	O-methyltransferase, family 2 (1);	1.291170	0.05913	U	0.632017	T	0.29389	0.0732	L	0.59436	1.845	0.20489	N	0.999898	D;P;P	0.53312	0.959;0.839;0.729	P;P;B	0.50049	0.629;0.497;0.297	T	0.22765	-1.0207	10	0.51188	T	0.08	.	2.7782	0.05353	0.0:0.2147:0.2626:0.5228	.	487;547;563	E7ER97;O95671-2;O95671	.;.;ASML_HUMAN	T	487;505;547;563	ENSP00000410578:K487T;ENSP00000446410:K505T;ENSP00000370734:K547T;ENSP00000370718:K563T	ENSP00000370718:K563T	K	-	2	0	ASMTL	1482340	0.003000	0.15002	0.000000	0.03702	0.167000	0.22549	0.280000	0.18790	-0.665000	0.05317	0.097000	0.15509	AAG	ASMTL	-	pfam_O_MeTrfase_2	ENSG00000169093		0.647	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	48	0.00	0	T	NM_004192		1522340	1522340	-1	no_errors	ENST00000381317	ensembl	human	known	69_37n	missense	15	37.50	9	SNP	0.000	G
ARAF	369	genome.wustl.edu	37	X	47430771	47430771	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chrX:47430771G>A	ENST00000377045.4	+	16	1930	c.1736G>A	c.(1735-1737)cGg>cAg	p.R579Q	ARAF_ENST00000470206.1_3'UTR	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	A-Raf proto-oncogene, serine/threonine kinase	579					cellular protein modification process (GO:0006464)|negative regulation of apoptotic process (GO:0043066)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|regulation of TOR signaling (GO:0032006)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	AAGATTGAGCGGAGTGCCTCG	0.657																																						dbGAP											0													74.0	51.0	59.0					X																	47430771		2203	4300	6503	-	-	-	SO:0001583	missense	0			X04790	CCDS35232.1, CCDS59164.1, CCDS75970.1	Xp11.3-p11.23	2014-06-26	2014-06-26	2005-01-19	ENSG00000078061	ENSG00000078061			646	protein-coding gene	gene with protein product		311010	"""v-raf murine sarcoma 3611 viral oncogene homolog 1"""	ARAF1			Standard	NM_001654		Approved		uc004dic.2	P10398	OTTHUMG00000021446	ENST00000377045.4:c.1736G>A	X.37:g.47430771G>A	ENSP00000366244:p.Arg579Gln		P07557|Q5H9B2|Q5H9B3	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R579Q	ENST00000377045.4	37	c.1736	CCDS35232.1	X	.	.	.	.	.	.	.	.	.	.	g	21.7	4.192913	0.78902	.	.	ENSG00000078061	ENST00000377045	T	0.62105	0.05	5.24	4.37	0.52481	Protein kinase-like domain (1);	0.066349	0.64402	D	0.000012	T	0.60779	0.2295	L	0.49778	1.585	0.80722	D	1	D	0.55800	0.973	P	0.47376	0.545	T	0.63937	-0.6524	10	0.72032	D	0.01	.	10.7871	0.46411	0.0953:0.0:0.9047:0.0	.	579	P10398	ARAF_HUMAN	Q	579	ENSP00000366244:R579Q	ENSP00000366244:R579Q	R	+	2	0	ARAF	47315715	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.422000	0.97458	1.119000	0.41883	0.519000	0.50382	CGG	ARAF	-	superfamily_Kinase-like_dom	ENSG00000078061		0.657	ARAF-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ARAF	HGNC	protein_coding	OTTHUMT00000056418.1	34	0.00	0	G			47430771	47430771	+1	no_errors	ENST00000377045	ensembl	human	known	69_37n	missense	11	57.69	15	SNP	1.000	A
AURKAIP1	54998	genome.wustl.edu	37	1	1309283	1309283	+	Splice_Site	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:1309283C>T	ENST00000338370.3	-	3	899		c.e3-1		AURKAIP1_ENST00000489799.1_5'Flank|AURKAIP1_ENST00000378853.3_Splice_Site|AURKAIP1_ENST00000321751.5_Splice_Site|AURKAIP1_ENST00000338338.5_Splice_Site			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1						negative regulation of mitosis (GO:0045839)|positive regulation of proteolysis (GO:0045862)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CGAACTTGATCTGCAAGACGC	0.592																																						dbGAP											0													53.0	58.0	57.0					1																	1309283		2203	4296	6499	-	-	-	SO:0001630	splice_region_variant	0				CCDS25.1	1p36.33	2014-02-12			ENSG00000175756	ENSG00000175756			24114	protein-coding gene	gene with protein product		609183				12244051	Standard	NM_017900		Approved	AKIP, AIP, FLJ20608	uc009vkb.1	Q9NWT8	OTTHUMG00000001413	ENST00000338370.3:c.499-1G>A	1.37:g.1309283C>T			Q5TA36|Q8TBD3	Splice_Site	SNP	-	e3-1	ENST00000338370.3	37	c.499-1	CCDS25.1	1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.525175	0.44969	.	.	ENSG00000175756	ENST00000338338;ENST00000338370;ENST00000321751;ENST00000378853	.	.	.	4.15	4.15	0.48705	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9698	0.64233	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	AURKAIP1	1299146	1.000000	0.71417	0.170000	0.22879	0.108000	0.19459	6.759000	0.74934	2.026000	0.59711	0.561000	0.74099	.	AURKAIP1	-	-	ENSG00000175756		0.592	AURKAIP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AURKAIP1	HGNC	protein_coding	OTTHUMT00000008273.1	36	0.00	0	C	NM_017900	Intron	1309283	1309283	-1	no_errors	ENST00000321751	ensembl	human	known	69_37n	splice_site	29	25.64	10	SNP	0.996	T
C19orf12	83636	genome.wustl.edu	37	19	30199322	30199322	+	Missense_Mutation	SNP	G	G	A	rs397514477		TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr19:30199322G>A	ENST00000392278.2	-	2	158	c.32C>T	c.(31-33)aCg>aTg	p.T11M	C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000592153.1_De_novo_Start_InFrame|C19orf12_ENST00000323670.9_De_novo_Start_InFrame	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	11			T -> M (in NBIA4). {ECO:0000269|PubMed:21981780}.		cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			GATAGTCATCGTGGCGGGCCT	0.517																																						dbGAP											0													71.0	71.0	71.0					19																	30199322		1970	4154	6124	-	-	-	SO:0001583	missense	0			AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.32C>T	19.37:g.30199322G>A	ENSP00000376103:p.Thr11Met		B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	NULL	p.T11M	ENST00000392278.2	37	c.32	CCDS42542.1	19	.	.	.	.	.	.	.	.	.	.	G	12.52	1.961398	0.34565	.	.	ENSG00000131943	ENST00000392278	D	0.87729	-2.29	6.08	-12.2	0.00006	.	.	.	.	.	T	0.69233	0.3088	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.14023	0.01	T	0.56739	-0.7929	9	0.46703	T	0.11	0.0625	2.8812	0.05648	0.1275:0.158:0.2602:0.4544	.	11	Q9NSK7-4	.	M	11	ENSP00000376103:T11M	ENSP00000376103:T11M	T	-	2	0	C19orf12	34891162	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.518000	0.06267	-2.948000	0.00294	-1.054000	0.02325	ACG	C19orf12	-	NULL	ENSG00000131943		0.517	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	C19orf12	HGNC	protein_coding	OTTHUMT00000313509.2	68	0.00	0	G	NM_031448		30199322	30199322	-1	no_errors	ENST00000392278	ensembl	human	known	69_37n	missense	34	32.00	16	SNP	0.000	A
C9	735	genome.wustl.edu	37	5	39288989	39288989	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr5:39288989delA	ENST00000263408.4	-	10	1576	c.1481delT	c.(1480-1482)ttgfs	p.L494fs		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	494	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|hemolysis by symbiont of host erythrocytes (GO:0019836)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane attack complex (GO:0005579)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			GGCTCTTTCCAAGTTTTGTTT	0.343																																						dbGAP											0													119.0	115.0	117.0					5																	39288989		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0				CCDS3929.1	5p14-p12	2014-09-17			ENSG00000113600	ENSG00000113600		"""Complement system"""	1358	protein-coding gene	gene with protein product		120940					Standard	NM_001737		Approved		uc003jlv.4	P02748	OTTHUMG00000094767	ENST00000263408.4:c.1481delT	5.37:g.39288989delA	ENSP00000263408:p.Leu494fs			Frame_Shift_Del	DEL	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.L494fs	ENST00000263408.4	37	c.1481	CCDS3929.1	5																																																																																			C9	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin	ENSG00000113600		0.343	C9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9	HGNC	protein_coding	OTTHUMT00000211576.3	285	0.00	0	A			39288989	39288989	-1	no_errors	ENST00000263408	ensembl	human	known	69_37n	frame_shift_del	400	14.41	68	DEL	1.000	-
CABIN1	23523	genome.wustl.edu	37	22	24468359	24468359	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr22:24468359C>T	ENST00000398319.2	+	18	2916	c.2531C>T	c.(2530-2532)tCa>tTa	p.S844L	CABIN1_ENST00000405822.2_Missense_Mutation_p.S794L|CABIN1_ENST00000263119.5_Missense_Mutation_p.S844L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	844					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CACGTCTCTTCAGTGCTACCC	0.577																																						dbGAP											0													135.0	95.0	108.0					22																	24468359		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.2531C>T	22.37:g.24468359C>T	ENSP00000381364:p.Ser844Leu		G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S844L	ENST00000398319.2	37	c.2531	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	20.4	3.991679	0.74703	.	.	ENSG00000099991	ENST00000263119;ENST00000405822;ENST00000398319	T;T;T	0.34667	1.35;1.35;1.35	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	T	0.35828	0.0945	L	0.50333	1.59	0.80722	D	1	P;B	0.35575	0.51;0.376	B;B	0.34536	0.185;0.09	T	0.38585	-0.9654	10	0.66056	D	0.02	.	16.8003	0.85612	0.0:1.0:0.0:0.0	.	794;844	G5E9F3;Q9Y6J0	.;CABIN_HUMAN	L	844;794;844	ENSP00000263119:S844L;ENSP00000384694:S794L;ENSP00000381364:S844L	ENSP00000263119:S844L	S	+	2	0	CABIN1	22798359	1.000000	0.71417	0.980000	0.43619	0.969000	0.65631	7.289000	0.78701	2.300000	0.77407	0.650000	0.86243	TCA	CABIN1	-	NULL	ENSG00000099991		0.577	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	41	0.00	0	C	NM_012295		24468359	24468359	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	missense	22	62.71	37	SNP	1.000	T
CD300A	11314	genome.wustl.edu	37	17	72470679	72470679	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr17:72470679T>A	ENST00000360141.3	+	3	676	c.388T>A	c.(388-390)Tca>Aca	p.S130T	CD300A_ENST00000310828.5_Missense_Mutation_p.S17T|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000392625.3_Missense_Mutation_p.S17T	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	130					cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGCATCAACGTCAATGACACC	0.512																																						dbGAP											0													198.0	153.0	168.0					17																	72470679		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.388T>A	17.37:g.72470679T>A	ENSP00000353259:p.Ser130Thr		A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S130T	ENST00000360141.3	37	c.388	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	T	12.13	1.845838	0.32606	.	.	ENSG00000167851	ENST00000360141;ENST00000392625;ENST00000310828	T;T	0.53857	4.36;0.6	3.09	-2.11	0.07187	.	.	.	.	.	T	0.31857	0.0810	N	0.13140	0.3	0.09310	N	0.999997	P;P;B	0.50819	0.939;0.939;0.053	P;P;B	0.45474	0.482;0.482;0.032	T	0.30268	-0.9984	9	0.13108	T	0.6	.	8.3033	0.32027	0.0:0.6429:0.0:0.3571	.	17;17;130	Q9UGN4-4;Q9UGN4-2;Q9UGN4	.;.;CLM8_HUMAN	T	130;17;17	ENSP00000353259:S130T;ENSP00000308188:S17T	ENSP00000308188:S17T	S	+	1	0	CD300A	69982274	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.466000	0.06672	-0.493000	0.06678	-0.366000	0.07423	TCA	CD300A	-	NULL	ENSG00000167851		0.512	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	66	0.00	0	T	NM_007261		72470679	72470679	+1	no_errors	ENST00000360141	ensembl	human	known	69_37n	missense	8	57.89	11	SNP	0.000	A
CDH12	1010	genome.wustl.edu	37	5	21817115	21817115	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr5:21817115C>T	ENST00000382254.1	-	9	2027	c.941G>A	c.(940-942)gGa>gAa	p.G314E	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G274E|CDH12_ENST00000504376.2_Missense_Mutation_p.G314E	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	314	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAACAAATTTCCCCCATCTCC	0.373										HNSCC(59;0.17)																												dbGAP											0													152.0	150.0	151.0					5																	21817115		2203	4300	6503	-	-	-	SO:0001583	missense	0			L33477	CCDS3890.1	5p14.3	2010-01-26			ENSG00000154162	ENSG00000154162		"""Cadherins / Major cadherins"""	1751	protein-coding gene	gene with protein product		600562				7731968	Standard	NM_004061		Approved	Br-cadherin, CDHB	uc003jgk.2	P55289	OTTHUMG00000090591	ENST00000382254.1:c.941G>A	5.37:g.21817115C>T	ENSP00000371689:p.Gly314Glu		B2RBT1|B7Z2U6|Q86UD2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.G314E	ENST00000382254.1	37	c.941	CCDS3890.1	5	.	.	.	.	.	.	.	.	.	.	C	14.14	2.445144	0.43429	.	.	ENSG00000154162	ENST00000504376;ENST00000382254;ENST00000522262	T;T;T	0.52295	0.67;0.67;0.67	4.97	4.97	0.65823	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	N	0.12569	0.235	0.80722	D	1	B;D	0.89917	0.03;1.0	B;D	0.97110	0.036;1.0	T	0.53173	-0.8476	10	0.27082	T	0.32	.	18.5819	0.91174	0.0:1.0:0.0:0.0	.	274;314	B7Z2U6;P55289	.;CAD12_HUMAN	E	314;314;274	ENSP00000423577:G314E;ENSP00000371689:G314E;ENSP00000428786:G274E	ENSP00000371689:G314E	G	-	2	0	CDH12	21852872	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.205000	0.77881	2.435000	0.82474	0.585000	0.79938	GGA	CDH12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000154162		0.373	CDH12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH12	HGNC	protein_coding	OTTHUMT00000207139.1	257	0.00	0	C	NM_004061		21817115	21817115	-1	no_errors	ENST00000382254	ensembl	human	known	69_37n	missense	419	17.45	89	SNP	1.000	T
CYP2C8	1558	genome.wustl.edu	37	10	96802742	96802742	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr10:96802742C>A	ENST00000371270.3	-	7	1148	c.1054G>T	c.(1054-1056)Gtg>Ttg	p.V352L	CYP2C8_ENST00000535898.1_Missense_Mutation_p.V250L|CYP2C8_ENST00000539050.1_Missense_Mutation_p.V266L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	352					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|omega-hydroxylase P450 pathway (GO:0097267)|organic acid metabolic process (GO:0006082)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|caffeine oxidase activity (GO:0034875)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Abiraterone(DB05812)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Almotriptan(DB00918)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bezafibrate(DB01393)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Buprenorphine(DB00921)|Bupropion(DB01156)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Candesartan(DB00796)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Cisapride(DB00604)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diltiazem(DB00343)|Domperidone(DB01184)|Eltrombopag(DB06210)|Enzalutamide(DB08899)|Erlotinib(DB00530)|Estradiol(DB00783)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Felodipine(DB01023)|Fenofibrate(DB01039)|Fluorouracil(DB00544)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Halofantrine(DB01218)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Irbesartan(DB01029)|Isoniazid(DB00951)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Liotrix(DB01583)|Loperamide(DB00836)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Medroxyprogesterone Acetate(DB00603)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Methadone(DB00333)|Metronidazole(DB00916)|Mirtazapine(DB00370)|Mometasone(DB00764)|Montelukast(DB00471)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Naloxone(DB01183)|Naproxen(DB00788)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Omeprazole(DB00338)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paramethadione(DB00617)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Perphenazine(DB00850)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Propafenone(DB01182)|Propofol(DB00818)|Pyrimethamine(DB00205)|Quinidine(DB00908)|Quinine(DB00468)|Raloxifene(DB00481)|Regorafenib(DB08896)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rifapentine(DB01201)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Salmeterol(DB00938)|Saquinavir(DB01232)|Secobarbital(DB00418)|Selegiline(DB01037)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Sorafenib(DB00398)|Spironolactone(DB00421)|Sulfadiazine(DB00359)|Sulfamethoxazole(DB01015)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Tazarotene(DB00799)|Temazepam(DB00231)|Terbinafine(DB00857)|Testosterone(DB00624)|Theophylline(DB00277)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Tolbutamide(DB01124)|Torasemide(DB00214)|Trametinib(DB08911)|Tretinoin(DB00755)|Triazolam(DB00897)|Trimethadione(DB00347)|Trimethoprim(DB00440)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vismodegib(DB08828)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zopiclone(DB01198)	ATCTCGTGCACTACAGCATCA	0.507																																						dbGAP											0													278.0	216.0	237.0					10																	96802742		2203	4300	6503	-	-	-	SO:0001583	missense	0			M17397	CCDS7438.1, CCDS55721.1, CCDS73166.1	10q24.1	2007-12-14	2003-01-14		ENSG00000138115	ENSG00000138115		"""Cytochrome P450s"""	2622	protein-coding gene	gene with protein product		601129	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 8"""			7841444	Standard	NM_001198853		Approved	CPC8	uc001kkb.3	P10632	OTTHUMG00000018804	ENST00000371270.3:c.1054G>T	10.37:g.96802742C>A	ENSP00000360317:p.Val352Leu		A8K9N8|B0AZN2|B7Z1F6|Q5VX93|Q8WWB1|Q9UCZ9	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.V352L	ENST00000371270.3	37	c.1054	CCDS7438.1	10	.	.	.	.	.	.	.	.	.	.	C	4.012	-0.000329	0.07819	.	.	ENSG00000138115	ENST00000371270;ENST00000535868;ENST00000535898;ENST00000539050	T;T;T	0.68903	-0.36;-0.36;-0.36	4.49	-8.97	0.00758	.	0.302815	0.24873	U	0.034917	T	0.33585	0.0868	N	0.11892	0.195	0.09310	N	1	B;B;B;B	0.10296	0.003;0.002;0.001;0.0	B;B;B;B	0.11329	0.005;0.003;0.006;0.003	T	0.07443	-1.0772	10	0.37606	T	0.19	.	3.335	0.07098	0.0846:0.2151:0.2533:0.447	.	266;250;320;352	F5H7Q9;B7Z1F6;B7Z8S1;P10632	.;.;.;CP2C8_HUMAN	L	352;319;250;266	ENSP00000360317:V352L;ENSP00000445062:V250L;ENSP00000442343:V266L	ENSP00000360317:V352L	V	-	1	0	CYP2C8	96792732	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.133000	0.00589	-3.091000	0.00247	-1.316000	0.01300	GTG	CYP2C8	-	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	ENSG00000138115		0.507	CYP2C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C8	HGNC	protein_coding	OTTHUMT00000049499.2	234	0.00	0	C	NM_000770		96802742	96802742	-1	no_errors	ENST00000371270	ensembl	human	known	69_37n	missense	71	59.43	104	SNP	0.029	A
DLC1	10395	genome.wustl.edu	37	8	12947852	12947852	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr8:12947852C>A	ENST00000276297.4	-	15	4392	c.3983G>T	c.(3982-3984)tGt>tTt	p.C1328F	DLC1_ENST00000520226.1_Missense_Mutation_p.C817F|DLC1_ENST00000512044.2_Missense_Mutation_p.C925F|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000358919.2_Missense_Mutation_p.C891F	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1328	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCCATCCACACAGTCCTGGAG	0.498																																						dbGAP											0													112.0	108.0	110.0					8																	12947852		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.3983G>T	8.37:g.12947852C>A	ENSP00000276297:p.Cys1328Phe		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.C1328F	ENST00000276297.4	37	c.3983	CCDS5989.1	8	.	.	.	.	.	.	.	.	.	.	C	19.78	3.891116	0.72524	.	.	ENSG00000164741	ENST00000276297;ENST00000358919;ENST00000510318;ENST00000512044;ENST00000520226	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.32	4.44	0.53790	Lipid-binding START (3);START-like domain (1);	0.143577	0.64402	D	0.000009	T	0.80727	0.4678	L	0.54323	1.7	0.80722	D	1	P;B;D	0.54964	0.933;0.44;0.969	P;B;P	0.56648	0.803;0.348;0.558	T	0.81810	-0.0762	10	0.66056	D	0.02	.	9.8722	0.41182	0.0:0.7872:0.1407:0.0721	.	1328;925;891	Q96QB1;E9PDZ8;Q96QB1-1	RHG07_HUMAN;.;.	F	1328;891;267;925;817	ENSP00000276297:C1328F;ENSP00000351797:C891F;ENSP00000422595:C925F;ENSP00000428028:C817F	ENSP00000276297:C1328F	C	-	2	0	DLC1	12992223	1.000000	0.71417	0.993000	0.49108	0.976000	0.68499	3.718000	0.54919	1.603000	0.50134	0.655000	0.94253	TGT	DLC1	-	pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd	ENSG00000164741		0.498	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DLC1	HGNC	protein_coding	OTTHUMT00000207632.2	127	0.00	0	C	NM_182643, NM_006094		12947852	12947852	-1	no_errors	ENST00000276297	ensembl	human	known	69_37n	missense	73	23.96	23	SNP	1.000	A
FBXO2	26232	genome.wustl.edu	37	1	11708857	11708857	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:11708857G>C	ENST00000354287.4	-	6	1126	c.785C>G	c.(784-786)cCg>cGg	p.P262R	FBXO2_ENST00000475961.1_5'Flank	NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	262	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				cellular protein modification process (GO:0006464)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glycoprotein catabolic process (GO:0006516)|negative regulation of cell proliferation (GO:0008285)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of protein ubiquitination (GO:0031396)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|SCF ubiquitin ligase complex (GO:0019005)	beta-amyloid binding (GO:0001540)|carbohydrate binding (GO:0030246)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|large_intestine(1)|lung(4)	6	Ovarian(185;0.249)	Lung NSC(185;9.37e-06)|all_lung(284;1.39e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|BRCA - Breast invasive adenocarcinoma(304;1.88e-06)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|Lung(427;0.0146)|LUSC - Lung squamous cell carcinoma(448;0.0228)|READ - Rectum adenocarcinoma(331;0.0649)		GCGGACGCCCGGCCCGTAGTC	0.672																																						dbGAP											0													53.0	62.0	59.0					1																	11708857		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF174594	CCDS130.1	1p36.21	2010-04-21	2004-06-15		ENSG00000116661	ENSG00000116661		"""F-boxes /  ""other"""""	13581	protein-coding gene	gene with protein product		607112	"""F-box only protein 2"", ""organ of Corti protein 1"""	OCP1		10531035, 10531037	Standard	NM_012168		Approved	FBX2, Nfb42, Fbs1, Fbg1	uc001asj.3	Q9UK22	OTTHUMG00000002072	ENST00000354287.4:c.785C>G	1.37:g.11708857G>C	ENSP00000346240:p.Pro262Arg		B2R7K7|Q5TGY0|Q6FGJ7|Q8TB29|Q9UKC6	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.P262R	ENST00000354287.4	37	c.785	CCDS130.1	1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.465503	0.84425	.	.	ENSG00000116661	ENST00000354287	T	0.36520	1.25	4.64	4.64	0.57946	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.71206	2.165	0.54753	D	0.999985	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.60954	-0.7160	10	0.49607	T	0.09	.	14.6534	0.68814	0.0:0.0:1.0:0.0	.	230;262	A6NNP0;Q9UK22	.;FBX2_HUMAN	R	262	ENSP00000346240:P262R	ENSP00000346240:P262R	P	-	2	0	FBXO2	11631444	1.000000	0.71417	0.994000	0.49952	0.987000	0.75469	5.902000	0.69869	2.107000	0.64212	0.561000	0.74099	CCG	FBXO2	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000116661		0.672	FBXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO2	HGNC	protein_coding	OTTHUMT00000005764.1	29	0.00	0	G	NM_012168		11708857	11708857	-1	no_errors	ENST00000354287	ensembl	human	known	69_37n	missense	14	30.00	6	SNP	0.998	C
FBXO30	84085	genome.wustl.edu	37	6	146127358	146127358	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr6:146127358T>G	ENST00000237281.4	-	2	350	c.184A>C	c.(184-186)Aat>Cat	p.N62H		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	62							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		AAGTCACTATTTAAGCAAGGC	0.408																																						dbGAP											0													214.0	198.0	204.0					6																	146127358		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.184A>C	6.37:g.146127358T>G	ENSP00000237281:p.Asn62His		Q9BXZ7	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF	p.N62H	ENST00000237281.4	37	c.184	CCDS5208.1	6	.	.	.	.	.	.	.	.	.	.	T	17.65	3.443238	0.63067	.	.	ENSG00000118496	ENST00000237281	T	0.36157	1.27	5.76	5.76	0.90799	Zinc finger, TRAF-type (1);TRAF-like (1);Seven In Absentia Homolog-type (1);	0.000000	0.85682	D	0.000000	T	0.57475	0.2056	M	0.82716	2.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.65397	-0.6178	10	0.87932	D	0	-26.3269	16.0724	0.80943	0.0:0.0:0.0:1.0	.	62	Q8TB52	FBX30_HUMAN	H	62	ENSP00000237281:N62H	ENSP00000237281:N62H	N	-	1	0	FBXO30	146169051	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.040000	0.89188	2.189000	0.69895	0.528000	0.53228	AAT	FBXO30	-	superfamily_TRAF-like,pfscan_Znf_TRAF	ENSG00000118496		0.408	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO30	HGNC	protein_coding	OTTHUMT00000042570.2	153	0.00	0	T			146127358	146127358	-1	no_errors	ENST00000237281	ensembl	human	known	69_37n	missense	94	38.56	59	SNP	1.000	G
FOXP2	93986	genome.wustl.edu	37	7	114066679	114066679	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr7:114066679G>A	ENST00000393494.2	+	2	392	c.113G>A	c.(112-114)gGt>gAt	p.G38D	FOXP2_ENST00000408937.3_Missense_Mutation_p.G38D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G38D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G38D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G37D|FOXP2_ENST00000462331.1_Missense_Mutation_p.G38D|FOXP2_ENST00000403559.4_Missense_Mutation_p.G38D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G38D|FOXP2_ENST00000459666.1_3'UTR|FOXP2_ENST00000393500.3_5'UTR|FOXP2_ENST00000393489.3_5'UTR|FOXP2_ENST00000350908.4_Missense_Mutation_p.G38D			O15409	FOXP2_HUMAN	forkhead box P2	38					camera-type eye development (GO:0043010)|caudate nucleus development (GO:0021757)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|growth (GO:0040007)|lung alveolus development (GO:0048286)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of mesenchymal cell proliferation (GO:0002053)|post-embryonic development (GO:0009791)|putamen development (GO:0021758)|righting reflex (GO:0060013)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|vocal learning (GO:0042297)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGATCAAGTGGTGACACCAGC	0.428																																						dbGAP											0													117.0	103.0	107.0					7																	114066679		2203	4300	6503	-	-	-	SO:0001583	missense	0			U80741	CCDS5760.1, CCDS5761.1, CCDS43635.1, CCDS5761.2, CCDS55154.1	7q31	2008-07-18			ENSG00000128573	ENSG00000128573		"""Forkhead boxes"""	13875	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 10"", ""forkhead/winged-helix transcription factor"", ""speech and language disorder 1"", ""CAG repeat protein 44"""	605317		TNRC10, SPCH1		11586359, 9225980	Standard	NM_014491		Approved	CAGH44	uc003vgz.3	O15409	OTTHUMG00000023131	ENST00000393494.2:c.113G>A	7.37:g.114066679G>A	ENSP00000377132:p.Gly38Asp		A0AUV6|A4D0U8|A6NNW4|B4DLD9|Q6ZND1|Q75MJ3|Q8IZE0|Q8N0W2|Q8N6B7|Q8N6B8|Q8NFQ1|Q8NFQ2|Q8NFQ3|Q8NFQ4|Q8TD74	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.G38D	ENST00000393494.2	37	c.113	CCDS5760.1	7	.	.	.	.	.	.	.	.	.	.	G	17.49	3.402589	0.62288	.	.	ENSG00000128573	ENST00000324462;ENST00000393494;ENST00000462331;ENST00000408937;ENST00000403559;ENST00000350908;ENST00000393498;ENST00000378237;ENST00000360232;ENST00000452963;ENST00000393495;ENST00000390668	T;T;D;T;T;T;T;T	0.92595	1.29;0.13;-3.07;1.61;1.29;1.29;1.29;-0.3	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.95020	0.8388	L	0.52573	1.65	0.80722	D	1	D;B;B;P;D;D;D	0.89917	1.0;0.306;0.432;0.846;1.0;1.0;0.961	D;B;B;B;D;D;P	0.85130	0.987;0.129;0.253;0.362;0.987;0.997;0.483	D	0.95341	0.8438	10	0.87932	D	0	.	19.2355	0.93856	0.0:0.0:1.0:0.0	.	38;38;38;37;38;38;38	B7ZLK5;B4DLD9;O15409-6;Q8N6B5;O15409;O15409-4;O15409-5	.;.;.;.;FOXP2_HUMAN;.;.	D	38;38;38;38;38;38;38;38;38;38;38;37	ENSP00000377132:G38D;ENSP00000418100:G38D;ENSP00000386200:G38D;ENSP00000385069:G38D;ENSP00000265436:G38D;ENSP00000367482:G38D;ENSP00000353367:G38D;ENSP00000375084:G37D	ENSP00000319424:G38D	G	+	2	0	FOXP2	113853915	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.358000	0.97109	2.622000	0.88805	0.591000	0.81541	GGT	FOXP2	-	NULL	ENSG00000128573		0.428	FOXP2-014	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	FOXP2	HGNC	protein_coding	OTTHUMT00000317366.1	87	0.00	0	G	NM_014491		114066679	114066679	+1	no_errors	ENST00000408937	ensembl	human	known	69_37n	missense	45	13.46	7	SNP	1.000	A
GBP1P1	400759	genome.wustl.edu	37	1	89885865	89885865	+	RNA	SNP	A	A	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:89885865A>G	ENST00000513638.1	+	0	405					NR_003133.2				guanylate binding protein 1, interferon-inducible pseudogene 1																		AGGGTCTGGGAGATGTAGAGA	0.463																																						dbGAP											0																																										-	-	-			0					1p22.2	2011-03-09			ENSG00000225492	ENSG00000225492			39561	pseudogene	pseudogene							Standard	NR_003133		Approved		uc009wcy.1		OTTHUMG00000010128		1.37:g.89885865A>G				RNA	SNP	-	NULL	ENST00000513638.1	37	NULL		1																																																																																			GBP1P1	-	-	ENSG00000225492		0.463	GBP1P1-002	KNOWN	basic	processed_transcript	GBP1P1	HGNC	pseudogene	OTTHUMT00000360073.1	117	0.00	0	A	NR_003133		89885865	89885865	+1	no_errors	ENST00000513638	ensembl	human	known	69_37n	rna	64	41.28	45	SNP	0.986	G
GHR	2690	genome.wustl.edu	37	5	42695133	42695133	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr5:42695133C>G	ENST00000230882.4	+	5	571	c.381C>G	c.(379-381)atC>atG	p.I127M	GHR_ENST00000537449.1_5'UTR|GHR_ENST00000357703.3_Missense_Mutation_p.I105M	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	127					2-oxoglutarate metabolic process (GO:0006103)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPK activity (GO:0000187)|allantoin metabolic process (GO:0000255)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|endocytosis (GO:0006897)|fatty acid metabolic process (GO:0006631)|growth hormone receptor signaling pathway (GO:0060396)|insulin-like growth factor receptor signaling pathway (GO:0048009)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|multicellular organismal metabolic process (GO:0044236)|oxaloacetate metabolic process (GO:0006107)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|receptor internalization (GO:0031623)|regulation of multicellular organism growth (GO:0040014)|response to cycloheximide (GO:0046898)|response to estradiol (GO:0032355)|succinate metabolic process (GO:0006105)|taurine metabolic process (GO:0019530)|valine metabolic process (GO:0006573)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|growth hormone receptor complex (GO:0070195)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cytokine receptor activity (GO:0004896)|growth factor binding (GO:0019838)|peptide hormone binding (GO:0017046)|proline-rich region binding (GO:0070064)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	CTTATTGTATCAAGCTAACTA	0.368																																						dbGAP											0													124.0	116.0	119.0					5																	42695133		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3940.1, CCDS56364.1, CCDS75239.1, CCDS75240.1	5p14-p12	2013-03-25			ENSG00000112964	ENSG00000112964		"""Fibronectin type III domain containing"""	4263	protein-coding gene	gene with protein product	"""growth hormone binding protein"""	600946					Standard	NM_001242460		Approved	GHBP	uc003jmt.3	P10912	OTTHUMG00000094791	ENST00000230882.4:c.381C>G	5.37:g.42695133C>G	ENSP00000230882:p.Ile127Met		Q9HCX2	Nonsense_Mutation	SNP	NULL	p.S84*	ENST00000230882.4	37	c.251	CCDS3940.1	5	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967044	0.74131	.	.	ENSG00000112964	ENST00000230882;ENST00000357703;ENST00000356276	D;D	0.87179	-2.22;-2.22	5.02	2.19	0.27852	Fibronectin, type III (1);Growth hormone/erythropoietin receptor, ligand binding (1);Immunoglobulin-like fold (1);	0.305504	0.40222	N	0.001142	D	0.88314	0.6403	L	0.42581	1.335	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.83695	0.0179	10	0.23302	T	0.38	-6.0834	9.3545	0.38157	0.0:0.6832:0.0:0.3168	.	127	P10912	GHR_HUMAN	M	127;105;127	ENSP00000230882:I127M;ENSP00000350335:I105M	ENSP00000230882:I127M	I	+	3	3	GHR	42730890	0.980000	0.34600	1.000000	0.80357	0.996000	0.88848	0.028000	0.13644	0.595000	0.29777	0.650000	0.86243	ATC	GHR	-	NULL	ENSG00000112964		0.368	GHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GHR	HGNC	protein_coding	OTTHUMT00000211605.2	235	0.00	0	C	NM_000163		42695133	42695133	+1	no_errors	ENST00000511135	ensembl	human	known	69_37n	nonsense	320	19.19	76	SNP	0.999	G
GPR64	10149	genome.wustl.edu	37	X	19021075	19021075	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chrX:19021075C>G	ENST00000379869.3	-	24	2282	c.2119G>C	c.(2119-2121)Gtc>Ctc	p.V707L	GPR64_ENST00000354791.3_Missense_Mutation_p.V691L|GPR64_ENST00000379878.3_Missense_Mutation_p.V691L|GPR64_ENST00000379873.2_Missense_Mutation_p.V707L|GPR64_ENST00000357991.3_Missense_Mutation_p.V704L|GPR64_ENST00000360279.4_Missense_Mutation_p.V685L|GPR64_ENST00000340581.3_Missense_Mutation_p.V588L|GPR64_ENST00000357544.3_Missense_Mutation_p.V677L|GPR64_ENST00000379876.1_Missense_Mutation_p.V683L|GPR64_ENST00000356606.4_Missense_Mutation_p.V693L	NM_001079858.2|NM_005756.3	NP_001073327.1|NP_005747.2	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	707					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)|spermatogenesis (GO:0007283)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					GTGAATGAGACCAAGAGAAAA	0.423																																						dbGAP											0													83.0	77.0	79.0					X																	19021075		2203	4300	6503	-	-	-	SO:0001583	missense	0			X81892	CCDS14191.1, CCDS43921.1, CCDS43922.1, CCDS43923.1, CCDS55376.1, CCDS55377.1, CCDS55378.1, CCDS55379.1	Xp22.13	2014-08-08			ENSG00000173698	ENSG00000173698		"""-"", ""GPCR / Class B : Orphans"""	4516	protein-coding gene	gene with protein product	"""epididymal protein 6"""	300572				9739419, 9150425	Standard	NM_005756		Approved	HE6, TM7LN2, EDDM6	uc004cyx.3	Q8IZP9	OTTHUMG00000021223	ENST00000379869.3:c.2119G>C	X.37:g.19021075C>G	ENSP00000369198:p.Val707Leu		B1AWB3|B1AWB4|B1AWB6|B1AWB7|O00406|Q14CE0|Q8IWT2|Q8IZE4|Q8IZE5|Q8IZE6|Q8IZE7|Q8IZP3|Q8IZP4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.V707L	ENST00000379869.3	37	c.2119	CCDS43923.1	X	.	.	.	.	.	.	.	.	.	.	C	26.9	4.780889	0.90282	.	.	ENSG00000173698	ENST00000379873;ENST00000379878;ENST00000354791;ENST00000379876;ENST00000357544;ENST00000379869;ENST00000360279;ENST00000357991;ENST00000356606;ENST00000340581	T;T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.36	5.36	0.76844	GPCR, family 2-like (1);	0.000000	0.47455	D	0.000237	T	0.62684	0.2448	M	0.77103	2.36	0.58432	D	0.999996	P;P;D;P;P;D;D;D;D;P;D	0.69078	0.869;0.917;0.996;0.923;0.923;0.992;0.996;0.982;0.982;0.937;0.997	P;P;D;P;P;D;D;D;D;P;D	0.71184	0.853;0.835;0.953;0.835;0.835;0.931;0.953;0.915;0.915;0.898;0.972	T	0.67681	-0.5608	10	0.72032	D	0.01	.	18.1922	0.89810	0.0:1.0:0.0:0.0	.	588;669;677;683;691;707;685;693;704;707;691	Q14CE0;Q8IZP9-8;Q8IZP9-7;Q8IZP9-5;Q8IZP9-3;Q8IZP9-9;Q8IZP9-6;Q8IZP9-4;Q8IZP9-2;Q8IZP9;Q14CE1	.;.;.;.;.;.;.;.;.;GPR64_HUMAN;.	L	707;691;691;683;677;707;685;704;693;588	ENSP00000369202:V707L;ENSP00000369207:V691L;ENSP00000346845:V691L;ENSP00000369205:V683L;ENSP00000350152:V677L;ENSP00000369198:V707L;ENSP00000353421:V685L;ENSP00000350680:V704L;ENSP00000349015:V693L;ENSP00000344972:V588L	ENSP00000344972:V588L	V	-	1	0	GPR64	18930996	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.569000	0.60865	2.233000	0.73108	0.544000	0.68410	GTC	GPR64	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	ENSG00000173698		0.423	GPR64-003	KNOWN	basic|CCDS	protein_coding	GPR64	HGNC	protein_coding	OTTHUMT00000055970.2	125	0.00	0	C			19021075	19021075	-1	no_errors	ENST00000379869	ensembl	human	known	69_37n	missense	53	38.37	33	SNP	1.000	G
HIVEP3	59269	genome.wustl.edu	37	1	42047320	42047320	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:42047320G>A	ENST00000372583.1	-	4	4034	c.3149C>T	c.(3148-3150)tCt>tTt	p.S1050F	HIVEP3_ENST00000429157.2_Missense_Mutation_p.S1050F|HIVEP3_ENST00000247584.5_Missense_Mutation_p.S1050F|HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000372584.1_Missense_Mutation_p.S1050F	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1050	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CCTGCTCAGAGAGGCCTGTCT	0.592																																						dbGAP											0													47.0	51.0	50.0					1																	42047320		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.3149C>T	1.37:g.42047320G>A	ENSP00000361664:p.Ser1050Phe		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1050F	ENST00000372583.1	37	c.3149	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894103	0.72639	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.57907	0.37;0.37;0.37;0.37	4.89	4.89	0.63831	.	0.000000	0.47852	D	0.000211	T	0.73233	0.3561	M	0.74467	2.265	0.51012	D	0.9999	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.996	T	0.76940	-0.2773	10	0.87932	D	0	0.1096	17.8472	0.88733	0.0:0.0:1.0:0.0	.	1050;1050	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	F	1050	ENSP00000361665:S1050F;ENSP00000361664:S1050F;ENSP00000247584:S1050F;ENSP00000410828:S1050F	ENSP00000247584:S1050F	S	-	2	0	HIVEP3	41819907	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	7.748000	0.85085	2.538000	0.85594	0.462000	0.41574	TCT	HIVEP3	-	NULL	ENSG00000127124		0.592	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	69	0.00	0	G	NM_024503		42047320	42047320	-1	no_errors	ENST00000247584	ensembl	human	known	69_37n	missense	33	43.10	25	SNP	1.000	A
HEATR1	55127	genome.wustl.edu	37	1	236738059	236738059	+	Nonsense_Mutation	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:236738059C>A	ENST00000366582.3	-	23	3343	c.3229G>T	c.(3229-3231)Gag>Tag	p.E1077*	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1077					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTCGGATCCTCATTTAAAAGG	0.423																																						dbGAP											0													67.0	70.0	69.0					1																	236738059		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.3229G>T	1.37:g.236738059C>A	ENSP00000355541:p.Glu1077*		Q5T3Q8|Q6P197|Q9NW23	Nonsense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.E1077*	ENST00000366582.3	37	c.3229	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	43	9.999665	0.99314	.	.	ENSG00000119285	ENST00000366582	.	.	.	5.84	4.72	0.59763	.	0.263332	0.41823	D	0.000820	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0176	0.30389	0.0:0.0686:0.1353:0.7962	.	.	.	.	X	1077	.	ENSP00000355541:E1077X	E	-	1	0	HEATR1	234804682	1.000000	0.71417	0.997000	0.53966	0.817000	0.46193	2.617000	0.46385	1.023000	0.39654	-0.294000	0.09567	GAG	HEATR1	-	superfamily_ARM-type_fold	ENSG00000119285		0.423	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	150	0.00	0	C	XM_375853		236738059	236738059	-1	no_errors	ENST00000366582	ensembl	human	known	69_37n	nonsense	89	29.92	38	SNP	1.000	A
IGF2R	3482	genome.wustl.edu	37	6	160496980	160496980	+	Silent	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr6:160496980C>T	ENST00000356956.1	+	36	5416	c.5268C>T	c.(5266-5268)ttC>ttT	p.F1756F		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1756					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	ACAAGCATTTCAACTACACCT	0.473																																						dbGAP											0													187.0	166.0	173.0					6																	160496980		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.5268C>T	6.37:g.160496980C>T			Q7Z7G9|Q96PT5	Silent	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.F1756	ENST00000356956.1	37	c.5268	CCDS5273.1	6																																																																																			IGF2R	-	superfamily_Man6P_isomerase_rcpt-bd_dom	ENSG00000197081		0.473	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	136	0.00	0	C	NM_000876		160496980	160496980	+1	no_errors	ENST00000356956	ensembl	human	known	69_37n	silent	78	32.17	37	SNP	0.998	T
KDM3A	55818	genome.wustl.edu	37	2	86707459	86707459	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr2:86707459G>A	ENST00000409556.1	+	17	2851	c.2486G>A	c.(2485-2487)aGc>aAc	p.S829N	KDM3A_ENST00000542128.1_Missense_Mutation_p.S777N|KDM3A_ENST00000312912.5_Missense_Mutation_p.S829N|KDM3A_ENST00000409064.1_Missense_Mutation_p.S829N			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	829					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GACCTAACCAGCGGGAATGTC	0.532																																					NSCLC(96;1150 1523 6936 46253 49736)	dbGAP											0													92.0	106.0	101.0					2																	86707459		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2486G>A	2.37:g.86707459G>A	ENSP00000386660:p.Ser829Asn		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S829N	ENST00000409556.1	37	c.2486	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955639	0.73902	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.59502	0.26;0.26;0.26;0.26	5.86	5.86	0.93980	.	0.262288	0.41500	D	0.000876	T	0.61751	0.2372	L	0.59436	1.845	0.29442	N	0.859083	P;P	0.46952	0.887;0.885	P;P	0.51415	0.669;0.468	T	0.59048	-0.7527	10	0.22109	T	0.4	.	12.129	0.53932	0.0783:0.0:0.9217:0.0	.	777;829	F5H070;Q9Y4C1	.;KDM3A_HUMAN	N	829;829;829;829;777	ENSP00000386660:S829N;ENSP00000323659:S829N;ENSP00000386516:S829N;ENSP00000438324:S777N	ENSP00000323659:S829N	S	+	2	0	KDM3A	86560970	0.998000	0.40836	0.877000	0.34402	0.982000	0.71751	2.895000	0.48648	2.781000	0.95711	0.650000	0.86243	AGC	KDM3A	-	NULL	ENSG00000115548		0.532	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	113	0.00	0	G	NM_018433		86707459	86707459	+1	no_errors	ENST00000312912	ensembl	human	known	69_37n	missense	93	32.12	44	SNP	0.916	A
INPP5D	3635	genome.wustl.edu	37	2	233986963	233986963	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr2:233986963C>A	ENST00000359570.5	+	3	345	c.345C>A	c.(343-345)gaC>gaA	p.D115E	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.D115E			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	115					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|determination of adult lifespan (GO:0008340)|immunoglobulin mediated immune response (GO:0016064)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of bone resorption (GO:0045779)|negative regulation of immune response (GO:0050777)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of neutrophil differentiation (GO:0045659)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of signal transduction (GO:0009968)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of erythrocyte differentiation (GO:0045648)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|membrane (GO:0016020)	inositol-polyphosphate 5-phosphatase activity (GO:0004445)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CTGAGGAGGACACAGGTAGGG	0.547																																					NSCLC(82;1215 1426 16163 20348 41018)	dbGAP											0													39.0	45.0	43.0					2																	233986963		2054	4185	6239	-	-	-	SO:0001583	missense	0			U57650	CCDS74672.1	2q37.1	2013-02-14	2002-08-29		ENSG00000168918	ENSG00000168918		"""SH2 domain containing"""	6079	protein-coding gene	gene with protein product		601582	"""inositol polyphosphate-5-phosphatase, 145kD"""			8643691, 8874179	Standard	NM_001017915		Approved	SHIP, hp51CN	uc010zmp.2	Q92835	OTTHUMG00000133688	ENST00000359570.5:c.345C>A	2.37:g.233986963C>A	ENSP00000352575:p.Asp115Glu		O00145|Q13544|Q13545|Q6P5A4|Q92656|Q9UE80	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,pfam_SH2,superfamily_Endo/exonuclease/phosphatase,smart_SH2,smart_IPPc,prints_SH2,pfscan_SH2	p.D115E	ENST00000359570.5	37	c.345		2	.	.	.	.	.	.	.	.	.	.	c	11.29	1.596483	0.28445	.	.	ENSG00000168918	ENST00000422935;ENST00000451407;ENST00000359570;ENST00000538935	D;D;D;D	0.96168	-2.89;-2.91;-3.93;-3.9	5.06	-2.57	0.06248	.	0.771098	0.12775	N	0.440197	D	0.87446	0.6179	.	.	.	0.24198	N	0.995528	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.75294	-0.3368	9	0.30078	T	0.28	.	2.6835	0.05101	0.2312:0.4694:0.1182:0.1811	.	115;115	Q92835-2;Q92835	.;SHIP1_HUMAN	E	115	ENSP00000409018:D115E;ENSP00000415253:D115E;ENSP00000352575:D115E;ENSP00000441010:D115E	ENSP00000352575:D115E	D	+	3	2	INPP5D	233695207	0.037000	0.19845	0.949000	0.38748	0.989000	0.77384	0.026000	0.13599	-0.356000	0.08187	0.645000	0.84053	GAC	INPP5D	-	NULL	ENSG00000168918		0.547	INPP5D-201	KNOWN	basic|appris_principal	protein_coding	INPP5D	HGNC	protein_coding		55	0.00	0	C	NM_001017915		233986963	233986963	+1	no_errors	ENST00000359570	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	0.954	A
KIAA0368	23392	genome.wustl.edu	37	9	114176803	114176803	+	Silent	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr9:114176803C>A	ENST00000338205.5	-	18	2112	c.1893G>T	c.(1891-1893)ggG>ggT	p.G631G	KIAA0368_ENST00000259335.4_Silent_p.G809G|RNA5SP294_ENST00000411306.1_RNA			Q5VYK3	ECM29_HUMAN	KIAA0368	637					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	centrosome (GO:0005813)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle (GO:0030134)|late endosome (GO:0005770)|membrane (GO:0016020)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|proteasome complex (GO:0000502)				NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GTGCCATCTGCCCGCTTGACA	0.552																																						dbGAP											0													150.0	145.0	147.0					9																	114176803		2007	4168	6175	-	-	-	SO:0001819	synonymous_variant	0			AK025689	CCDS48006.1	9q32	2012-11-29	2006-11-23	2006-11-23	ENSG00000136813	ENSG00000136813			29020	protein-coding gene	gene with protein product	"""ECM29 homolog (S. cerevisiae)"""					9205841, 15496406, 20682791	Standard	NM_001080398		Approved	FLJ22036, ECM29	uc004bfe.1	Q5VYK3	OTTHUMG00000020489	ENST00000338205.5:c.1893G>T	9.37:g.114176803C>A			O15074|Q8WU82	Silent	SNP	superfamily_ARM-type_fold	p.G809	ENST00000338205.5	37	c.2427		9																																																																																			KIAA0368	-	superfamily_ARM-type_fold	ENSG00000136813		0.552	KIAA0368-001	NOVEL	basic|appris_candidate	protein_coding	KIAA0368	HGNC	protein_coding	OTTHUMT00000053637.2	85	0.00	0	C	NM_014686		114176803	114176803	-1	no_errors	ENST00000259335	ensembl	human	known	69_37n	silent	56	34.88	30	SNP	0.894	A
KIAA1109	84162	genome.wustl.edu	37	4	123109213	123109213	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr4:123109213G>T	ENST00000264501.4	+	9	1164	c.791G>T	c.(790-792)aGt>aTt	p.S264I	KIAA1109_ENST00000388738.3_Missense_Mutation_p.S264I|KIAA1109_ENST00000455637.1_Missense_Mutation_p.S264I			Q2LD37	K1109_HUMAN	KIAA1109	264					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CTTGTTCCTAGTCCAAGATAT	0.303																																						dbGAP											0													83.0	74.0	77.0					4																	123109213		1822	4081	5903	-	-	-	SO:0001583	missense	0			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.791G>T	4.37:g.123109213G>T	ENSP00000264501:p.Ser264Ile		Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S264I	ENST00000264501.4	37	c.791	CCDS43267.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.8|27.8	4.863875|4.863875	0.91511|0.91511	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637|ENST00000424425	D;D;D|.	0.96427|.	-4.01;-4.01;-4.01|.	5.44|5.44	5.44|5.44	0.79542|0.79542	.|.	0.443144|.	0.15979|.	U|.	0.235414|.	T|.	0.71728|.	0.3374|.	L|L	0.55213|0.55213	1.73|1.73	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.75484|.	0.986|.	T|.	0.68349|.	-0.5432|.	10|.	0.59425|.	D|.	0.04|.	.|.	19.2572|19.2572	0.93951|0.93951	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	264|.	Q2LD37|.	K1109_HUMAN|.	I|Y	264|96	ENSP00000264501:S264I;ENSP00000373390:S264I;ENSP00000389925:S264I|.	ENSP00000264501:S264I|.	S|X	+|+	2|3	0|2	KIAA1109|KIAA1109	123328663|123328663	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.755000|9.755000	0.98912|0.98912	2.554000|2.554000	0.86153|0.86153	0.561000|0.561000	0.74099|0.74099	AGT|TAG	KIAA1109	-	NULL	ENSG00000138688		0.303	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	140	0.00	0	G	NM_020797		123109213	123109213	+1	no_errors	ENST00000264501	ensembl	human	known	69_37n	missense	24	71.76	61	SNP	1.000	T
KIAA1429	25962	genome.wustl.edu	37	8	95541412	95541412	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr8:95541412C>T	ENST00000297591.5	-	7	841	c.766G>A	c.(766-768)Gat>Aat	p.D256N	KIAA1429_ENST00000437199.1_Missense_Mutation_p.D256N|KIAA1429_ENST00000421249.2_Missense_Mutation_p.D256N	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	256	Glu-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			tcctctacatccacatcatct	0.448																																						dbGAP											0													447.0	335.0	373.0					8																	95541412		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.766G>A	8.37:g.95541412C>T	ENSP00000297591:p.Asp256Asn		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D256N	ENST00000297591.5	37	c.766	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	C	21.4	4.144369	0.77888	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.45276	0.91;0.9;0.9	5.23	5.23	0.72850	.	0.374189	0.27526	N	0.018968	T	0.34106	0.0886	N	0.24115	0.695	0.45762	D	0.998658	B;B	0.25609	0.13;0.13	B;B	0.27170	0.077;0.047	T	0.08249	-1.0731	10	0.34782	T	0.22	-18.0082	18.7752	0.91908	0.0:1.0:0.0:0.0	.	256;256	Q69YN4-4;Q69YN4	.;VIR_HUMAN	N	256	ENSP00000297591:D256N;ENSP00000395600:D256N;ENSP00000398390:D256N	ENSP00000297591:D256N	D	-	1	0	KIAA1429	95610588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.258000	0.65479	2.595000	0.87683	0.591000	0.81541	GAT	KIAA1429	-	NULL	ENSG00000164944		0.448	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	852	0.12	1	C	NM_015496		95541412	95541412	-1	no_errors	ENST00000297591	ensembl	human	known	69_37n	missense	781	30.08	336	SNP	1.000	T
KIAA1462	57608	genome.wustl.edu	37	10	30317146	30317146	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr10:30317146C>T	ENST00000375377.1	-	3	2032	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	644					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GAACTCCGTTCTCCCACCCAT	0.502																																						dbGAP											0													117.0	113.0	114.0					10																	30317146		1953	4149	6102	-	-	-	SO:0001583	missense	0			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1931G>A	10.37:g.30317146C>T	ENSP00000364526:p.Arg644Lys		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	NULL	p.R644K	ENST00000375377.1	37	c.1931	CCDS41500.1	10	.	.	.	.	.	.	.	.	.	.	C	11.26	1.585643	0.28268	.	.	ENSG00000165757	ENST00000375377	T	0.12039	2.72	5.62	0.1	0.14510	.	0.517995	0.23178	N	0.051055	T	0.08088	0.0202	L	0.41824	1.3	0.09310	N	1	B	0.17038	0.02	B	0.13407	0.009	T	0.33471	-0.9867	10	0.16420	T	0.52	-11.4429	3.7744	0.08654	0.1847:0.2734:0.0:0.5419	.	644	Q9P266	K1462_HUMAN	K	644	ENSP00000364526:R644K	ENSP00000364526:R644K	R	-	2	0	KIAA1462	30357152	0.192000	0.23301	0.000000	0.03702	0.029000	0.11900	1.170000	0.31883	0.339000	0.23719	0.561000	0.74099	AGA	KIAA1462	-	NULL	ENSG00000165757		0.502	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1462	HGNC	protein_coding	OTTHUMT00000047409.1	221	0.00	0	C	NM_020848		30317146	30317146	-1	no_errors	ENST00000375377	ensembl	human	known	69_37n	missense	209	27.93	81	SNP	0.011	T
LRRC34	151827	genome.wustl.edu	37	3	169524690	169524690	+	Silent	SNP	G	G	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr3:169524690G>T	ENST00000316515.7	-	5	711	c.435C>A	c.(433-435)ctC>ctA	p.L145L	LRRC34_ENST00000522526.2_Silent_p.L158L|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522830.1_Silent_p.L97L|LRRC34_ENST00000446859.1_Silent_p.L158L	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	145										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CATTAAACATGAGGTTTAAGT	0.289																																						dbGAP											0													74.0	75.0	74.0					3																	169524690		2203	4295	6498	-	-	-	SO:0001819	synonymous_variant	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.435C>A	3.37:g.169524690G>T			B4DEJ7|E9PBH2|G5E9T7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L158	ENST00000316515.7	37	c.474		3																																																																																			LRRC34	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171757		0.289	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		194	0.00	0	G	NM_153353		169524690	169524690	-1	no_errors	ENST00000446859	ensembl	human	known	69_37n	silent	110	33.73	56	SNP	0.994	T
KCNK7	10089	genome.wustl.edu	37	11	65365763	65365763	+	5'Flank	SNP	C	C	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr11:65365763C>G	ENST00000340313.4	-	0	0				MAP3K11_ENST00000309100.3_Nonstop_Mutation_p.*848S|MAP3K11_ENST00000530153.1_Nonstop_Mutation_p.*591S|KCNK7_ENST00000342202.4_5'Flank|KCNK7_ENST00000394216.2_5'Flank|KCNK7_ENST00000394217.2_5'Flank|MAP3K11_ENST00000532507.1_Nonstop_Mutation_p.*264S|MAP3K11_ENST00000534432.1_5'Flank	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7						potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			endometrium(1)|liver(1)|lung(1)	3						CTGGCCCACTCAAGGCCCCGC	0.667																																						dbGAP											0													6.0	7.0	7.0					11																	65365763		2141	4236	6377	-	-	-	SO:0001631	upstream_gene_variant	0			AF110522	CCDS8106.1, CCDS31608.1, CCDS41673.1	11q13	2012-03-07			ENSG00000173338	ENSG00000173338		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6282	protein-coding gene	gene with protein product		603940				10206991, 11256078, 16382106	Standard	NM_033347		Approved	K2p7.1	uc001oes.3	Q9Y2U2	OTTHUMG00000166528		11.37:g.65365763C>G	Exception_encountered		Q3SYI2|Q9Y2U3|Q9Y2U4	Nonstop_Mutation	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.*848S	ENST00000340313.4	37	c.2543	CCDS31608.1	11	.	.	.	.	.	.	.	.	.	.	C	8.326	0.825450	0.16749	.	.	ENSG00000173327	ENST00000309100;ENST00000532507;ENST00000530153	.	.	.	5.39	3.51	0.40186	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.5834	0.33644	0.0:0.82:0.0:0.18	.	.	.	.	S	848;264;591	.	.	X	-	2	2	MAP3K11	65122339	0.594000	0.26849	0.609000	0.28983	0.458000	0.32498	1.419000	0.34793	0.754000	0.32968	0.655000	0.94253	TGA	MAP3K11	-	NULL	ENSG00000173327		0.667	KCNK7-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390206.1	18	0.00	0	C	NM_005714		65365763	65365763	-1	no_errors	ENST00000309100	ensembl	human	known	69_37n	nonstop	3	70.00	7	SNP	0.074	G
MOB1B	92597	genome.wustl.edu	37	4	71840935	71840935	+	Missense_Mutation	SNP	A	A	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr4:71840935A>G	ENST00000309395.2	+	4	542	c.341A>G	c.(340-342)tAt>tGt	p.Y114C	MOB1B_ENST00000511449.1_Intron|MOB1B_ENST00000396051.2_Missense_Mutation_p.Y119C	NM_001244766.1|NM_173468.3	NP_001231695.1|NP_775739.1	Q7L9L4	MOB1B_HUMAN	MOB kinase activator 1B	114					hippo signaling (GO:0035329)|positive regulation of phosphorylation (GO:0042327)|protein autophosphorylation (GO:0046777)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	kinase activator activity (GO:0019209)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)										GCACCAAAGTATATTGATTAC	0.363																																						dbGAP											0													104.0	105.0	105.0					4																	71840935		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC038112	CCDS34002.1, CCDS58903.1	4q13.3	2011-09-28	2011-09-28	2011-09-27	ENSG00000173542	ENSG00000173542		"""MOB kinase activators"""	29801	protein-coding gene	gene with protein product	"""Mob4A protein"""	609282	"""MOB1, Mps One Binder kinase activator-like 1A (yeast)"", ""MOB1 Mps One Binder homolog B (yeast)"""	MOBKL1A		15067004	Standard	NM_173468		Approved	MOB4A	uc003hfw.3	Q7L9L4	OTTHUMG00000160844	ENST00000309395.2:c.341A>G	4.37:g.71840935A>G	ENSP00000310189:p.Tyr114Cys		B2R8U6|B4DRY3|Q8IY23	Missense_Mutation	SNP	pfam_Mob1_phocein,superfamily_Mob1_phocein	p.Y114C	ENST00000309395.2	37	c.341	CCDS34002.1	4	.	.	.	.	.	.	.	.	.	.	A	26.5	4.745508	0.89663	.	.	ENSG00000173542	ENST00000502869;ENST00000309395;ENST00000396051	.	.	.	6.04	6.04	0.98038	.	0.000000	0.85682	D	0.000000	D	0.90386	0.6991	H	0.98256	4.185	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.93780	0.7083	9	0.87932	D	0	-45.5477	16.5763	0.84648	1.0:0.0:0.0:0.0	.	119;114;114	B4DRY3;Q7L9L4;B3KSH6	.;MOB1B_HUMAN;.	C	119;114;119	.	ENSP00000310189:Y114C	Y	+	2	0	MOBKL1A	72059799	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.157000	0.94714	2.317000	0.78254	0.459000	0.35465	TAT	MOB1B	-	pfam_Mob1_phocein,superfamily_Mob1_phocein	ENSG00000173542		0.363	MOB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOB1B	HGNC	protein_coding	OTTHUMT00000362634.1	213	0.00	0	A	NM_173468		71840935	71840935	+1	no_errors	ENST00000309395	ensembl	human	known	69_37n	missense	123	50.20	125	SNP	1.000	G
MPDZ	8777	genome.wustl.edu	37	9	13192136	13192136	+	Silent	SNP	T	T	C			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr9:13192136T>C	ENST00000319217.7	-	15	2209	c.1962A>G	c.(1960-1962)acA>acG	p.T654T	MPDZ_ENST00000381022.2_Silent_p.T654T|MPDZ_ENST00000447879.1_Silent_p.T654T|MPDZ_ENST00000546205.1_Silent_p.T654T|MPDZ_ENST00000541718.1_Silent_p.T654T|MPDZ_ENST00000536827.1_Silent_p.T654T|MPDZ_ENST00000381015.4_Silent_p.T654T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	654					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		ATACCTTTTCTGTTAGCTCAA	0.378																																						dbGAP											0													116.0	107.0	110.0					9																	13192136		1902	4133	6035	-	-	-	SO:0001819	synonymous_variant	0			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1962A>G	9.37:g.13192136T>C			A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.T654	ENST00000319217.7	37	c.1962		9																																																																																			MPDZ	-	NULL	ENSG00000107186		0.378	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	376	0.00	0	T	NM_003829		13192136	13192136	-1	no_errors	ENST00000319217	ensembl	human	known	69_37n	silent	84	59.62	124	SNP	0.416	C
OR4C16	219428	genome.wustl.edu	37	11	55339821	55339821	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr11:55339821C>A	ENST00000314634.3	+	1	218	c.218C>A	c.(217-219)aCt>aAt	p.T73N		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	73						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TGCCTCTCTACTTCCATAACC	0.408																																						dbGAP											0													263.0	243.0	250.0					11																	55339821		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.218C>A	11.37:g.55339821C>A	ENSP00000324913:p.Thr73Asn		Q6IEV8	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T73N	ENST00000314634.3	37	c.218	CCDS31502.1	11	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984107	0.53827	.	.	ENSG00000181935	ENST00000314634	T	0.05081	3.5	4.98	4.03	0.46877	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000003	T	0.23886	0.0578	M	0.80183	2.485	0.09310	N	1	D	0.63880	0.993	D	0.67382	0.951	T	0.01294	-1.1393	10	0.72032	D	0.01	.	13.338	0.60528	0.0:0.8413:0.1587:0.0	.	73	Q8NGL9	OR4CG_HUMAN	N	73	ENSP00000324913:T73N	ENSP00000324913:T73N	T	+	2	0	OR4C16	55096397	0.006000	0.16342	0.258000	0.24420	0.574000	0.36063	2.228000	0.42981	2.595000	0.87683	0.549000	0.68633	ACT	OR4C16	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000181935		0.408	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	267	0.00	0	C	NM_001004701		55339821	55339821	+1	no_errors	ENST00000314634	ensembl	human	known	69_37n	missense	238	10.86	29	SNP	0.109	A
PCDHB11	56125	genome.wustl.edu	37	5	140581431	140581431	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr5:140581431C>A	ENST00000354757.3	+	1	2084	c.2084C>A	c.(2083-2085)gCc>gAc	p.A695D	PCDHB11_ENST00000536699.1_Missense_Mutation_p.A330D	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN	protocadherin beta 11	695					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGGCGTTGGCCTCGGTGTCT	0.692																																						dbGAP											0													88.0	89.0	89.0					5																	140581431		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF152490	CCDS4253.1	5q31	2010-01-26			ENSG00000197479	ENSG00000197479		"""Cadherins / Protocadherins : Clustered"""	8682	other	protocadherin	"""cadherin ME2"""	606337				10380929	Standard	NM_018931		Approved	PCDH-BETA11, ME2	uc003liy.3	Q9Y5F2	OTTHUMG00000129618	ENST00000354757.3:c.2084C>A	5.37:g.140581431C>A	ENSP00000346802:p.Ala695Asp		B4DSF7|Q2M223	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A695D	ENST00000354757.3	37	c.2084	CCDS4253.1	5	.	.	.	.	.	.	.	.	.	.	c	24.8	4.571414	0.86542	.	.	ENSG00000197479	ENST00000536699;ENST00000354757	T;T	0.39056	1.1;1.1	2.64	2.64	0.31445	.	.	.	.	.	T	0.74989	0.3789	H	0.98407	4.225	0.35809	D	0.823694	D	0.58620	0.983	D	0.65233	0.933	D	0.87717	0.2570	9	0.87932	D	0	.	13.3378	0.60528	0.0:1.0:0.0:0.0	.	695	Q9Y5F2	PCDBB_HUMAN	D	330;695	ENSP00000440344:A330D;ENSP00000346802:A695D	ENSP00000346802:A695D	A	+	2	0	PCDHB11	140561615	0.000000	0.05858	0.139000	0.22197	0.755000	0.42902	-0.140000	0.10342	1.481000	0.48307	0.449000	0.29647	GCC	PCDHB11	-	NULL	ENSG00000197479		0.692	PCDHB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB11	HGNC	protein_coding	OTTHUMT00000251813.1	27	0.00	0	C	NM_018931		140581431	140581431	+1	no_errors	ENST00000354757	ensembl	human	known	69_37n	missense	22	24.14	7	SNP	0.972	A
PDE3A	5139	genome.wustl.edu	37	12	20803395	20803395	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr12:20803395G>A	ENST00000359062.3	+	14	2826	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	929	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GATGATGTTGGAATAGATTGG	0.294																																						dbGAP											0													141.0	139.0	139.0					12																	20803395		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2786G>A	12.37:g.20803395G>A	ENSP00000351957:p.Gly929Glu		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.G929E	ENST00000359062.3	37	c.2786	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	25.5	4.640184	0.87760	.	.	ENSG00000172572	ENST00000359062	T	0.76448	-1.02	5.78	5.78	0.91487	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.858811	0.10451	N	0.673039	D	0.86096	0.5851	L	0.39633	1.23	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83641	0.0150	10	0.62326	D	0.03	.	20.0203	0.97492	0.0:0.0:1.0:0.0	.	929	Q14432	PDE3A_HUMAN	E	929	ENSP00000351957:G929E	ENSP00000351957:G929E	G	+	2	0	PDE3A	20694662	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.587000	0.82613	2.730000	0.93505	0.655000	0.94253	GGA	PDE3A	-	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	ENSG00000172572		0.294	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	348	0.00	0	G			20803395	20803395	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	177	37.23	105	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73432884	73432884	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr3:73432884C>T	ENST00000263666.4	-	10	2947	c.2833G>A	c.(2833-2835)Gag>Aag	p.E945K	PDZRN3_ENST00000462146.2_Missense_Mutation_p.E602K|PDZRN3_ENST00000479530.1_Missense_Mutation_p.E662K|PDZRN3_ENST00000535920.1_Missense_Mutation_p.E667K|PDZRN3_ENST00000466780.1_Missense_Mutation_p.E602K|PDZRN3_ENST00000466348.1_5'Flank	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	945					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		AGGGCGCGCTCCCGCAGCAGG	0.677																																						dbGAP											0													38.0	39.0	39.0					3																	73432884		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.2833G>A	3.37:g.73432884C>T	ENSP00000263666:p.Glu945Lys		A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Missense_Mutation	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.E945K	ENST00000263666.4	37	c.2833	CCDS33789.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.681267|4.681267	0.88542|0.88542	.|.	.|.	ENSG00000121440|ENSG00000121440	ENST00000263666;ENST00000535920;ENST00000462146;ENST00000466780;ENST00000479530|ENST00000416926	T;T;T;T;T|.	0.41400|.	1.0;1.0;1.0;1.0;1.0|.	5.27|5.27	5.27|5.27	0.74061|0.74061	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72669|0.72669	0.3489|0.3489	L|L	0.55834|0.55834	1.745|1.745	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	0.962;0.999;1.0;0.999|.	P;D;D;D|.	0.91635|.	0.9;0.993;0.999;0.991|.	T|T	0.74237|0.74237	-0.3730|-0.3730	10|6	0.49607|0.59425	T|D	0.09|0.04	.|.	18.5104|18.5104	0.90914|0.90914	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	667;662;662;945|.	F5H8I9;B7ZAG0;B7Z5X9;Q9UPQ7|.	.;.;.;PZRN3_HUMAN|.	K|E	945;667;602;602;662|664	ENSP00000263666:E945K;ENSP00000442026:E667K;ENSP00000418168:E602K;ENSP00000418484:E602K;ENSP00000418624:E662K|.	ENSP00000263666:E945K|ENSP00000392657:G664E	E|G	-|-	1|2	0|0	PDZRN3|PDZRN3	73515574|73515574	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.810000|0.810000	0.45777|0.45777	7.455000|7.455000	0.80726|0.80726	2.452000|2.452000	0.82932|0.82932	0.563000|0.563000	0.77884|0.77884	GAG|GGA	PDZRN3	-	NULL	ENSG00000121440		0.677	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	33	0.00	0	C	XM_041363		73432884	73432884	-1	no_errors	ENST00000263666	ensembl	human	known	69_37n	missense	13	50.00	13	SNP	1.000	T
POLR2F	5435	genome.wustl.edu	37	22	38355468	38355468	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr22:38355468G>A	ENST00000442738.2	+	3	331	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	POLR2F_ENST00000407936.1_Missense_Mutation_p.R69Q|POLR2F_ENST00000405557.1_Missense_Mutation_p.R69Q|POLR2F_ENST00000488684.1_3'UTR|POLR2F_ENST00000460648.1_Intron|POLR2F_ENST00000606538.1_Missense_Mutation_p.R69Q|POLR2F_ENST00000470701.1_Missense_Mutation_p.R64Q	NM_021974.3	NP_068809.1	P61218	RPAB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide F	69					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of type I interferon production (GO:0032481)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase II, core complex (GO:0005665)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|urinary_tract(2)	3	Melanoma(58;0.045)					CTGGGCACCCGAGCGCTCCAG	0.597																																						dbGAP											0													132.0	119.0	124.0					22																	38355468		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13963.1	22q13.1	2013-01-21			ENSG00000100142	ENSG00000100142		"""RNA polymerase subunits"""	9193	protein-coding gene	gene with protein product	"""DNA directed RNA polymerase II 14.4 kda polypeptide"""	604414				8786150	Standard	XR_112241		Approved	RPB6, HRBP14.4	uc010gxi.3	P61218	OTTHUMG00000151160	ENST00000442738.2:c.206G>A	22.37:g.38355468G>A	ENSP00000403852:p.Arg69Gln		P41584|Q6IAY3	Missense_Mutation	SNP	pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2	p.R69Q	ENST00000442738.2	37	c.206	CCDS13963.1	22	.	.	.	.	.	.	.	.	.	.	G	35	5.425197	0.96131	.	.	ENSG00000100142	ENST00000442738;ENST00000407936;ENST00000405557	.	.	.	4.61	4.61	0.57282	RNA polymerase subunit, RPB6/omega (1);DNA-directed RNA polymerase, 14-18kDa subunit, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.90889	0.7137	H	0.99026	4.405	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94921	0.8073	9	0.87932	D	0	.	17.8084	0.88608	0.0:0.0:1.0:0.0	.	69	P61218	RPAB2_HUMAN	Q	69	.	ENSP00000384112:R69Q	R	+	2	0	POLR2F	36685414	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.311000	0.96282	2.280000	0.76307	0.563000	0.77884	CGA	POLR2F	-	pfam_RNA_poly_omega/K/RPABC2,superfamily_RNA_poly_omega/K/RPABC2	ENSG00000100142		0.597	POLR2F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2F	HGNC	protein_coding	OTTHUMT00000321570.1	43	0.00	0	G	NM_021974		38355468	38355468	+1	no_errors	ENST00000442738	ensembl	human	known	69_37n	missense	30	40.00	20	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130832042	130832042	+	Silent	SNP	G	G	A	rs62165869	byFrequency	TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr2:130832042G>A	ENST00000409914.2	-	17	3402	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G	POTEF_ENST00000357462.5_Silent_p.G1001G	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	1001	Actin-like.				retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGGTGGTGCCGCCAGACAGCA	0.537																																						dbGAP											0													1.0	1.0	1.0					2																	130832042		145	436	581	-	-	-	SO:0001819	synonymous_variant	0			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.3003C>T	2.37:g.130832042G>A			A6NC34	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,prints_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.G1001	ENST00000409914.2	37	c.3003	CCDS46409.1	2																																																																																			POTEF	-	pfam_Actin-like,smart_Actin-like	ENSG00000196604		0.537	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	9	0.00	0	G	NM_001099771		130832042	130832042	-1	no_errors	ENST00000357462	ensembl	human	known	69_37n	silent	2	71.43	5	SNP	1.000	A
PPFIA2	8499	genome.wustl.edu	37	12	81678036	81678036	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr12:81678036G>A	ENST00000549396.1	-	25	3132	c.2972C>T	c.(2971-2973)gCa>gTa	p.A991V	RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.A991V|PPFIA2_ENST00000407050.4_Intron|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000549325.1_Missense_Mutation_p.A976V|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.A976V|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550584.2_Missense_Mutation_p.A991V|PPFIA2_ENST00000550359.2_Missense_Mutation_p.A838V|PPFIA2_ENST00000443686.3_Missense_Mutation_p.A892V|PPFIA2_ENST00000552948.1_Intron	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	991					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCTGGAGCTGCAAGATTTTC	0.463																																						dbGAP											0													97.0	95.0	96.0					12																	81678036		1929	4135	6064	-	-	-	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2972C>T	12.37:g.81678036G>A	ENSP00000450337:p.Ala991Val		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A991V	ENST00000549396.1	37	c.2972	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.137299	0.77775	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686	T;T;T;T;T	0.25579	2.16;2.17;2.17;2.12;1.79	5.48	5.48	0.80851	.	0.058231	0.64402	D	0.000002	T	0.31888	0.0811	M	0.65975	2.015	0.80722	D	1	B	0.22541	0.071	B	0.11329	0.006	T	0.05402	-1.0887	10	0.35671	T	0.21	-10.429	19.3529	0.94398	0.0:0.0:1.0:0.0	.	991	O75334	LIPA2_HUMAN	V	991;976;1002;976;991;892	ENSP00000450337:A991V;ENSP00000450298:A976V;ENSP00000327416:A976V;ENSP00000449338:A991V;ENSP00000388373:A892V	ENSP00000327416:A976V	A	-	2	0	PPFIA2	80202167	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.664000	0.98607	2.575000	0.86900	0.585000	0.79938	GCA	PPFIA2	-	NULL	ENSG00000139220		0.463	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	242	0.00	0	G			81678036	81678036	-1	no_errors	ENST00000549396	ensembl	human	known	69_37n	missense	159	38.37	99	SNP	1.000	A
PPFIA2	8499	genome.wustl.edu	37	12	82147913	82147913	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr12:82147913G>T	ENST00000549396.1	-	3	248	c.88C>A	c.(88-90)Cat>Aat	p.H30N	PPFIA2_ENST00000548586.1_Missense_Mutation_p.H30N|PPFIA2_ENST00000549325.1_Missense_Mutation_p.H30N|PPFIA2_ENST00000333447.7_Missense_Mutation_p.H30N|PPFIA2_ENST00000550584.2_Missense_Mutation_p.H30N|PPFIA2_ENST00000552948.1_Missense_Mutation_p.H30N	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	30					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TGCTCAAAATGGGAGTCTGAG	0.502																																						dbGAP											0													53.0	53.0	53.0					12																	82147913		1930	4137	6067	-	-	-	SO:0001583	missense	0			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.88C>A	12.37:g.82147913G>T	ENSP00000450337:p.His30Asn		B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.H30N	ENST00000549396.1	37	c.88	CCDS55857.1	12	.	.	.	.	.	.	.	.	.	.	G	7.142	0.581990	0.13749	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000552948;ENST00000551442;ENST00000547623	T;T;T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33;1.33;1.33	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.24851	0.0603	N	0.17838	0.53	0.80722	D	1	B	0.25105	0.118	B	0.21917	0.037	T	0.11690	-1.0577	10	0.02654	T	1	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	30	O75334	LIPA2_HUMAN	N	30;30;41;30;30;30;30;30	ENSP00000450337:H30N;ENSP00000450298:H30N;ENSP00000327416:H30N;ENSP00000449338:H30N;ENSP00000447868:H30N;ENSP00000449469:H30N;ENSP00000447918:H30N	ENSP00000327416:H30N	H	-	1	0	PPFIA2	80672044	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.863000	0.87023	2.821000	0.97095	0.650000	0.86243	CAT	PPFIA2	-	NULL	ENSG00000139220		0.502	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA2	HGNC	protein_coding	OTTHUMT00000408030.1	126	0.00	0	G			82147913	82147913	-1	no_errors	ENST00000549396	ensembl	human	known	69_37n	missense	51	40.00	34	SNP	1.000	T
PUM2	23369	genome.wustl.edu	37	2	20455818	20455818	+	Silent	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr2:20455818G>A	ENST00000361078.2	-	16	2626	c.2604C>T	c.(2602-2604)ttC>ttT	p.F868F	PUM2_ENST00000403432.1_Silent_p.F866F|PUM2_ENST00000338086.5_Silent_p.F866F|PUM2_ENST00000536417.1_Silent_p.F810F|PUM2_ENST00000319801.5_Silent_p.F789F			Q8TB72	PUM2_HUMAN	pumilio RNA-binding family member 2	868	PUM-HD. {ECO:0000255|PROSITE- ProRule:PRU00318}.				regulation of translation (GO:0006417)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear membrane (GO:0031965)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATCAATGATGAACTGTAGTG	0.363																																						dbGAP											0													217.0	193.0	201.0					2																	20455818		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF315591	CCDS1698.1, CCDS74486.1, CCDS74487.1	2p22-p21	2013-09-02	2013-09-02		ENSG00000055917	ENSG00000055917			14958	protein-coding gene	gene with protein product		607205	"""pumilio (Drosphila) homolog 2"", ""pumilio homolog 2 (Drosophila)"""			9039502, 12459267, 12511597	Standard	XM_005262607		Approved	PUMH2, KIAA0235	uc002rds.1	Q8TB72	OTTHUMG00000122098	ENST00000361078.2:c.2604C>T	2.37:g.20455818G>A			B3KSL0|B4E2B6|D6W527|O00234|Q53TV7|Q8WY43|Q9HAN2	Silent	SNP	pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	p.F868	ENST00000361078.2	37	c.2604		2																																																																																			PUM2	-	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt	ENSG00000055917		0.363	PUM2-202	KNOWN	basic|appris_candidate_longest	protein_coding	PUM2	HGNC	protein_coding		269	0.00	0	G	NM_015317		20455818	20455818	-1	no_errors	ENST00000361078	ensembl	human	known	69_37n	silent	165	30.08	71	SNP	1.000	A
RYR3	6263	genome.wustl.edu	37	15	34023837	34023837	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr15:34023837C>T	ENST00000389232.4	+	48	7436	c.7366C>T	c.(7366-7368)Cgt>Tgt	p.R2456C	RYR3_ENST00000415757.3_Missense_Mutation_p.R2456C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2456	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCCAAGGGACGTTCCCTCAC	0.463																																						dbGAP											0													90.0	85.0	87.0					15																	34023837		1994	4186	6180	-	-	-	SO:0001583	missense	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.7366C>T	15.37:g.34023837C>T	ENSP00000373884:p.Arg2456Cys		O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,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,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R2456C	ENST00000389232.4	37	c.7366	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	22.9	4.347495	0.82022	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.97404	-4.37;-4.37	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	D	0.97682	0.9240	L	0.46157	1.445	0.80722	D	1	D;B	0.89917	1.0;0.113	D;B	0.87578	0.998;0.026	D	0.97044	0.9759	10	0.35671	T	0.21	.	19.3333	0.94303	0.0:1.0:0.0:0.0	.	2456;2456	Q15413-2;Q15413	.;RYR3_HUMAN	C	2456	ENSP00000373884:R2456C;ENSP00000399610:R2456C	ENSP00000354735:R2456C	R	+	1	0	RYR3	31811129	1.000000	0.71417	0.120000	0.21714	0.966000	0.64601	5.862000	0.69560	2.793000	0.96121	0.655000	0.94253	CGT	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.463	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	140	0.00	0	C			34023837	34023837	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	missense	60	32.58	29	SNP	0.999	T
SERPINB12	89777	genome.wustl.edu	37	18	61233851	61233851	+	Missense_Mutation	SNP	A	A	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr18:61233851A>T	ENST00000269491.1	+	7	825	c.825A>T	c.(823-825)aaA>aaT	p.K275N	SERPINB12_ENST00000382768.1_Missense_Mutation_p.K295N	NM_080474.1	NP_536722.1	Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	275					hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of protein catabolic process (GO:0042177)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTGAAAGGAAAATCACCTATG	0.458																																						dbGAP											0													133.0	138.0	136.0					18																	61233851		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF411191	CCDS11984.1	18q21.33	2014-02-18	2005-08-18		ENSG00000166634	ENSG00000166634		"""Serine (or cysteine) peptidase inhibitors"""	14220	protein-coding gene	gene with protein product		615662	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 12"""			24172014	Standard	NM_080474		Approved	YUKOPIN	uc010xen.2	Q96P63	OTTHUMG00000132789	ENST00000269491.1:c.825A>T	18.37:g.61233851A>T	ENSP00000269491:p.Lys275Asn		Q3SYB4	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.K275N	ENST00000269491.1	37	c.825	CCDS11984.1	18	.	.	.	.	.	.	.	.	.	.	A	4.945	0.175582	0.09391	.	.	ENSG00000166634	ENST00000269491;ENST00000382768	D;D	0.85556	-2.0;-2.0	5.91	-9.94	0.00449	Serpin domain (3);	0.612418	0.16857	N	0.196664	T	0.58963	0.2159	N	0.12831	0.26	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.48198	-0.9056	10	0.27082	T	0.32	.	4.0059	0.09600	0.1991:0.4534:0.1757:0.1718	.	295;275	Q3SYB4;Q96P63	.;SPB12_HUMAN	N	275;295	ENSP00000269491:K275N;ENSP00000372218:K295N	ENSP00000269491:K275N	K	+	3	2	SERPINB12	59384831	0.000000	0.05858	0.007000	0.13788	0.006000	0.05464	-1.980000	0.01492	-1.160000	0.02804	-1.119000	0.02030	AAA	SERPINB12	-	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	ENSG00000166634		0.458	SERPINB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB12	HGNC	protein_coding	OTTHUMT00000256197.1	116	0.00	0	A	NM_080474		61233851	61233851	+1	no_errors	ENST00000269491	ensembl	human	known	69_37n	missense	140	10.19	16	SNP	0.000	T
SGSM1	129049	genome.wustl.edu	37	22	25294156	25294156	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr22:25294156C>T	ENST00000400359.4	+	20	2412	c.2405C>T	c.(2404-2406)aCg>aTg	p.T802M	SGSM1_ENST00000400358.4_Missense_Mutation_p.T747M|SNORD56_ENST00000362913.1_RNA	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	802	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.		T -> P (in dbSNP:rs6004350).			Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						AACACCCCCACGGTGCTGCGA	0.632																																						dbGAP											0													51.0	63.0	59.0					22																	25294156		2134	4261	6395	-	-	-	SO:0001583	missense	0			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2405C>T	22.37:g.25294156C>T	ENSP00000383212:p.Thr802Met		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.T802M	ENST00000400359.4	37	c.2405	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	C	2.694	-0.272495	0.05716	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.07021	3.23;3.23	5.24	0.205	0.15204	Rab-GAP/TBC domain (2);	0.597033	0.15795	U	0.244222	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B;P;P;B	0.37612	0.214;0.454;0.602;0.167	B;B;B;B	0.30495	0.026;0.103;0.116;0.016	T	0.37934	-0.9684	10	0.48119	T	0.1	-11.8193	1.3802	0.02229	0.1526:0.4146:0.1506:0.2821	.	747;802;819;802	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	M	802;747;802	ENSP00000383211:T747M;ENSP00000383212:T802M	ENSP00000383211:T747M	T	+	2	0	SGSM1	23624156	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.041000	0.13927	0.541000	0.28827	-0.282000	0.10007	ACG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	ENSG00000167037		0.632	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	33	0.00	0	C	XM_059318		25294156	25294156	+1	no_errors	ENST00000400359	ensembl	human	known	69_37n	missense	29	19.44	7	SNP	0.000	T
SSH2	85464	genome.wustl.edu	37	17	27959760	27959760	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr17:27959760C>G	ENST00000269033.3	-	15	2522	c.2371G>C	c.(2371-2373)Gag>Cag	p.E791Q	SSH2_ENST00000540801.1_Missense_Mutation_p.E818Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	791					actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGGGCCCTCTCAAGGAGCAGC	0.512																																						dbGAP											0													116.0	103.0	107.0					17																	27959760		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2371G>C	17.37:g.27959760C>G	ENSP00000269033:p.Glu791Gln		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.E791Q	ENST00000269033.3	37	c.2371	CCDS11253.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.487602	0.84854	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.55413	0.52;0.52	5.66	5.66	0.87406	.	0.784041	0.11874	N	0.521155	T	0.73575	0.3604	M	0.64997	1.995	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.922	T	0.70673	-0.4807	10	0.56958	D	0.05	-16.057	19.7597	0.96309	0.0:1.0:0.0:0.0	.	818;791	F5H527;Q76I76	.;SSH2_HUMAN	Q	791;818	ENSP00000269033:E791Q;ENSP00000444743:E818Q	ENSP00000269033:E791Q	E	-	1	0	SSH2	24983886	0.998000	0.40836	0.961000	0.40146	0.556000	0.35491	5.513000	0.67037	2.680000	0.91292	0.655000	0.94253	GAG	SSH2	-	NULL	ENSG00000141298		0.512	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH2	HGNC	protein_coding	OTTHUMT00000256116.1	246	0.00	0	C	NM_033389		27959760	27959760	-1	no_errors	ENST00000269033	ensembl	human	known	69_37n	missense	292	25.45	100	SNP	0.990	G
TARS2	80222	genome.wustl.edu	37	1	150476814	150476814	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:150476814G>C	ENST00000369064.3	+	14	1655	c.1621G>C	c.(1621-1623)Gac>Cac	p.D541H	TARS2_ENST00000606933.1_Missense_Mutation_p.D459H|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Missense_Mutation_p.D411H	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	541					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CCTGTAGATTGACGTGCACCT	0.527																																						dbGAP											0													73.0	56.0	62.0					1																	150476814		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1621G>C	1.37:g.150476814G>C	ENSP00000358060:p.Asp541His		Q53GW7|Q96I50|Q9H9V2	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	p.D541H	ENST00000369064.3	37	c.1621	CCDS952.1	1	.	.	.	.	.	.	.	.	.	.	G	19.15	3.771223	0.69992	.	.	ENSG00000143374	ENST00000369054;ENST00000369064;ENST00000369051;ENST00000369052	.	.	.	5.05	5.05	0.67936	Aminoacyl-tRNA synthetase, class II (1);	0.000000	0.85682	D	0.000000	D	0.89361	0.6693	H	0.98068	4.14	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	D	0.92886	0.6327	9	0.87932	D	0	-12.1777	17.1459	0.86766	0.0:0.0:1.0:0.0	.	411;266;541	Q9H9V2;E7EVR9;Q9BW92	.;.;SYTM_HUMAN	H	411;541;266;266	.	ENSP00000358047:D266H	D	+	1	0	TARS2	148743438	1.000000	0.71417	0.984000	0.44739	0.301000	0.27625	9.315000	0.96313	2.634000	0.89283	0.655000	0.94253	GAC	TARS2	-	pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	ENSG00000143374		0.527	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	61	0.00	0	G	NM_025150		150476814	150476814	+1	no_errors	ENST00000369064	ensembl	human	known	69_37n	missense	15	54.55	18	SNP	1.000	C
TBKBP1	9755	genome.wustl.edu	37	17	45773639	45773639	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr17:45773639G>A	ENST00000361722.3	+	1	1010	c.161G>A	c.(160-162)cGg>cAg	p.R54Q		NM_014726.2	NP_055541.1			TBK1 binding protein 1											endometrium(5)|kidney(1)|lung(1)	7						ATCAAGGAACGGCTGGGGGGC	0.622																																						dbGAP											0													58.0	64.0	62.0					17																	45773639		2011	4166	6177	-	-	-	SO:0001583	missense	0			AB018318	CCDS45722.1	17q21.32	2012-05-17				ENSG00000198933			30140	protein-coding gene	gene with protein product		608476				14743216, 19481056	Standard	NM_014726		Approved	ProSAPiP2, KIAA0775	uc002ilu.3	A7MCY6		ENST00000361722.3:c.161G>A	17.37:g.45773639G>A	ENSP00000354777:p.Arg54Gln			Missense_Mutation	SNP	NULL	p.R54Q	ENST00000361722.3	37	c.161	CCDS45722.1	17	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884044	0.72410	.	.	ENSG00000198933	ENST00000361722;ENST00000537587	T;T	0.42513	0.97;0.97	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.60392	0.2265	L	0.52011	1.625	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.62388	-0.6865	10	0.72032	D	0.01	-30.8878	18.0979	0.89497	0.0:0.0:1.0:0.0	.	54	A7MCY6	TBKB1_HUMAN	Q	54	ENSP00000354777:R54Q;ENSP00000446365:R54Q	ENSP00000354777:R54Q	R	+	2	0	TBKBP1	43128638	1.000000	0.71417	0.977000	0.42913	0.959000	0.62525	9.046000	0.93817	2.628000	0.89032	0.561000	0.74099	CGG	TBKBP1	-	NULL	ENSG00000198933		0.622	TBKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBKBP1	HGNC	protein_coding	OTTHUMT00000441363.1	22	0.00	0	G	NM_014726		45773639	45773639	+1	no_errors	ENST00000361722	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	1.000	A
TGFBR3	7049	genome.wustl.edu	37	1	92161237	92161237	+	Missense_Mutation	SNP	G	G	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr1:92161237G>T	ENST00000525962.1	-	15	2490	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y	TGFBR3_ENST00000370399.2_Missense_Mutation_p.S809Y|TGFBR3_ENST00000212355.4_Missense_Mutation_p.S810Y			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	810					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		ACCTGTGTGAGAATAGATGTA	0.478																																						dbGAP											0													125.0	105.0	112.0					1																	92161237		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2429C>A	1.37:g.92161237G>T	ENSP00000436127:p.Ser810Tyr		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr	p.S810Y	ENST00000525962.1	37	c.2429	CCDS30770.1	1	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952242	0.92660	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.38	5.38	0.77491	.	0.173402	0.52532	D	0.000070	T	0.54382	0.1855	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.987;0.998;0.99	T	0.58211	-0.7676	10	0.87932	D	0	-19.65	19.1385	0.93438	0.0:0.0:1.0:0.0	.	810;809;810	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	Y	810;809;810;809	ENSP00000212355:S810Y;ENSP00000359426:S809Y;ENSP00000436127:S810Y;ENSP00000432638:S809Y	ENSP00000212355:S810Y	S	-	2	0	TGFBR3	91933825	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.006000	0.93592	2.525000	0.85131	0.563000	0.77884	TCT	TGFBR3	-	NULL	ENSG00000069702		0.478	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TGFBR3	HGNC	protein_coding	OTTHUMT00000382308.1	77	0.00	0	G	NM_003243		92161237	92161237	-1	no_errors	ENST00000212355	ensembl	human	known	69_37n	missense	39	39.06	25	SNP	1.000	T
THSD1	55901	genome.wustl.edu	37	13	52971733	52971733	+	Silent	SNP	G	G	A			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr13:52971733G>A	ENST00000258613.4	-	3	833	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	THSD1_ENST00000544466.1_Intron|THSD1_ENST00000349258.4_Silent_p.L219L|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	219					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		AGCAGCTTCAGCACCACGGTG	0.522																																						dbGAP											0													80.0	68.0	72.0					13																	52971733		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.655C>T	13.37:g.52971733G>A			A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L219	ENST00000258613.4	37	c.655	CCDS9432.1	13																																																																																			THSD1	-	NULL	ENSG00000136114		0.522	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD1	HGNC	protein_coding	OTTHUMT00000045058.3	45	0.00	0	G			52971733	52971733	-1	no_errors	ENST00000258613	ensembl	human	known	69_37n	silent	34	10.53	4	SNP	0.784	A
TP53	7157	genome.wustl.edu	37	17	7577547	7577547	+	Missense_Mutation	SNP	C	C	T	rs121912656|rs397516437		TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr17:7577547C>T	ENST00000269305.4	-	7	923	c.734G>A	c.(733-735)gGc>gAc	p.G245D	TP53_ENST00000359597.4_Missense_Mutation_p.G245D|TP53_ENST00000445888.2_Missense_Mutation_p.G245D|TP53_ENST00000413465.2_Missense_Mutation_p.G245D|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.G245D|TP53_ENST00000420246.2_Missense_Mutation_p.G245D	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	245	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1978757}.|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2259385}.|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575). {ECO:0000269|PubMed:8829627}.|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:2263646}.		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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)	CCGGTTCATGCCGCCCATGCA	0.582		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"""	219	Substitution - Missense(191)|Whole gene deletion(8)|Deletion - Frameshift(7)|Complex - deletion inframe(5)|Unknown(5)|Deletion - In frame(3)	large_intestine(37)|lung(32)|oesophagus(23)|breast(22)|ovary(18)|upper_aerodigestive_tract(16)|haematopoietic_and_lymphoid_tissue(15)|liver(9)|prostate(7)|stomach(6)|central_nervous_system(6)|skin(6)|biliary_tract(5)|urinary_tract(5)|bone(5)|pancreas(4)|cervix(1)|vulva(1)|endometrium(1)	GRCh37	CM010464|CM900209	TP53	M	rs121912656						151.0	113.0	126.0					17																	7577547		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.734G>A	17.37:g.7577547C>T	ENSP00000269305:p.Gly245Asp		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.G245D	ENST00000269305.4	37	c.734	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.5	4.838149	0.91117	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99900	-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62;-7.62	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.91920	3.255	0.80722	A	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0;1.0	D	0.96045	0.9027	9	0.87932	D	0	-19.4293	15.3618	0.74483	0.0:1.0:0.0:0.0	.	245;245;152;245;245;245	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	D	245;245;245;245;245;245;234;152;113;152	ENSP00000410739:G245D;ENSP00000352610:G245D;ENSP00000269305:G245D;ENSP00000398846:G245D;ENSP00000391127:G245D;ENSP00000391478:G245D;ENSP00000425104:G113D;ENSP00000423862:G152D	ENSP00000269305:G245D	G	-	2	0	TP53	7518272	1.000000	0.71417	0.997000	0.53966	0.973000	0.67179	7.609000	0.82925	2.564000	0.86499	0.462000	0.41574	GGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	77	0.00	0	C	NM_000546		7577547	7577547	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	12	75.00	36	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179498336	179498336	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr2:179498336C>G	ENST00000591111.1	-	182	38051	c.37827G>C	c.(37825-37827)ttG>ttC	p.L12609F	TTN_ENST00000342992.6_Missense_Mutation_p.L11682F|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000418062.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L14250F|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L5377F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L5310F|TTN_ENST00000460472.2_Missense_Mutation_p.L5185F|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12609	Ig-like 84.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCACACTTCAAAGTAATCT	0.408																																						dbGAP											0													75.0	71.0	72.0					2																	179498336		1899	4127	6026	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.37827G>C	2.37:g.179498336C>G	ENSP00000465570:p.Leu12609Phe		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L11682F	ENST00000591111.1	37	c.35046		2	.	.	.	.	.	.	.	.	.	.	C	0.897	-0.723501	0.03158	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.67865	-0.29;-0.29;-0.29;-0.29	5.99	-4.43	0.03568	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65481	0.2695	L	0.38838	1.175	0.23681	N	0.99713	D;D;D;D	0.56968	0.978;0.978;0.978;0.978	P;P;P;P	0.58721	0.844;0.844;0.844;0.844	T	0.62840	-0.6769	9	0.87932	D	0	.	9.5452	0.39277	0.217:0.2676:0.4634:0.052	.	5185;5310;5377;12609	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	F	11682;5185;5377;5310;5185	ENSP00000343764:L11682F;ENSP00000434586:L5185F;ENSP00000340554:L5377F;ENSP00000352154:L5310F	ENSP00000340554:L5377F	L	-	3	2	TTN	179206581	0.001000	0.12720	0.616000	0.29078	0.096000	0.18686	-1.443000	0.02405	-0.672000	0.05266	0.655000	0.94253	TTG	TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000155657		0.408	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	160	0.00	0	C	NM_133378		179498336	179498336	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	83	34.65	44	SNP	0.057	G
UBA7	7318	genome.wustl.edu	37	3	49847551	49847551	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr3:49847551T>G	ENST00000333486.3	-	14	1857	c.1699A>C	c.(1699-1701)Acc>Ccc	p.T567P	UBA7_ENST00000494212.1_5'Flank	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	567	2 approximate repeats.				cellular protein modification process (GO:0006464)|cytokine-mediated signaling pathway (GO:0019221)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination (GO:0016567)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ISG15 activating enzyme activity (GO:0019782)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGCCCCAGGTGCCCGATGTG	0.607																																						dbGAP											0													48.0	42.0	44.0					3																	49847551		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC006378	CCDS2805.1	3p21	2007-11-30	2007-11-30	2007-11-30	ENSG00000182179	ENSG00000182179		"""Ubiquitin-like modifier activating enzymes"""	12471	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog B (yeast)"", ""UBA7, ubiquitin-activating enzyme E1"""	191325	"""ubiquitin-activating enzyme E1-like"""	UBE1L		8327486	Standard	NM_003335		Approved	D8, UBE2, UBA1B	uc003cxr.3	P41226	OTTHUMG00000158267	ENST00000333486.3:c.1699A>C	3.37:g.49847551T>G	ENSP00000333266:p.Thr567Pro		Q9BRB2	Missense_Mutation	SNP	pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.T567P	ENST00000333486.3	37	c.1699	CCDS2805.1	3	.	.	.	.	.	.	.	.	.	.	T	14.75	2.627440	0.46944	.	.	ENSG00000182179	ENST00000333486	T	0.46063	0.88	5.8	5.8	0.92144	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.320649	0.36665	N	0.002470	T	0.49932	0.1586	M	0.65320	2	0.50171	D	0.999853	P	0.50066	0.931	P	0.52758	0.708	T	0.55438	-0.8141	10	0.87932	D	0	-16.5467	7.4992	0.27507	0.0:0.1242:0.0:0.8758	.	567	P41226	UBA7_HUMAN	P	567	ENSP00000333266:T567P	ENSP00000333266:T567P	T	-	1	0	UBA7	49822555	1.000000	0.71417	0.967000	0.41034	0.016000	0.09150	2.637000	0.46553	2.224000	0.72417	0.533000	0.62120	ACC	UBA7	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1	ENSG00000182179		0.607	UBA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA7	HGNC	protein_coding	OTTHUMT00000350503.1	18	0.00	0	T	NM_003335		49847551	49847551	-1	no_errors	ENST00000333486	ensembl	human	known	69_37n	missense	10	37.50	6	SNP	1.000	G
ZNF583	147949	genome.wustl.edu	37	19	56925731	56925731	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A03V-01A-11D-A10Y-09	TCGA-AO-A03V-10A-01D-A110-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d88c365f-366a-49d5-9860-b930aab3eb1b	95a2e03d-1cc6-4565-b63f-99c7f2165c4d	g.chr19:56925731C>T	ENST00000333201.9	+	4	364	c.154C>T	c.(154-156)Cca>Tca	p.P52S	ZNF583_ENST00000291598.7_Missense_Mutation_p.P52S	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	52	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTTTCTAAGCCAGATGTGAT	0.433																																						dbGAP											0													100.0	109.0	106.0					19																	56925731		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK055592	CCDS12943.1	19q13.43	2013-09-20			ENSG00000198440	ENSG00000198440		"""Zinc fingers, C2H2-type"", ""-"""	26427	protein-coding gene	gene with protein product							Standard	NM_152478		Approved	FLJ31030	uc010ygl.1	Q96ND8	OTTHUMG00000168874	ENST00000333201.9:c.154C>T	19.37:g.56925731C>T	ENSP00000388502:p.Pro52Ser		O14850|Q2NKK3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.P52S	ENST00000333201.9	37	c.154	CCDS12943.1	19	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837425	0.71373	.	.	ENSG00000198440	ENST00000537943;ENST00000291598;ENST00000333201;ENST00000391778;ENST00000436972	T;T;T;T	0.00966	5.49;5.49;5.49;5.49	4.72	4.72	0.59763	Krueppel-associated box (3);	0.000000	0.39544	N	0.001333	T	0.02767	0.0083	M	0.88450	2.955	0.33138	D	0.544031	P	0.48407	0.91	B	0.42462	0.388	T	0.04140	-1.0974	10	0.72032	D	0.01	.	13.3909	0.60823	0.0:1.0:0.0:0.0	.	52	Q96ND8	ZN583_HUMAN	S	52	ENSP00000444291:P52S;ENSP00000291598:P52S;ENSP00000388502:P52S;ENSP00000375657:P52S	ENSP00000291598:P52S	P	+	1	0	ZNF583	61617543	0.221000	0.23642	0.590000	0.28732	0.996000	0.88848	2.819000	0.48049	2.636000	0.89361	0.467000	0.42956	CCA	ZNF583	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	ENSG00000198440		0.433	ZNF583-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF583	HGNC	protein_coding	OTTHUMT00000401453.1	254	0.00	0	C	NM_152478		56925731	56925731	+1	no_errors	ENST00000291598	ensembl	human	known	69_37n	missense	470	28.68	189	SNP	0.784	T
