#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
ADAMTS17	170691	genome.wustl.edu	37	15	100672248	100672248	+	Missense_Mutation	SNP	C	C	T	rs202203873		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr15:100672248C>T	ENST00000268070.4	-	12	1790	c.1685G>A	c.(1684-1686)gGa>gAa	p.G562E	RP11-90E5.1_ENST00000560128.1_RNA	NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	562	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GAAGCGGGCTCCCGTCCCACA	0.642											OREG0023513	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													58.0	59.0	59.0					15																	100672248		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1685G>A	15.37:g.100672248C>T	ENSP00000268070:p.Gly562Glu	1353	Q2I7G4|Q6ZN75	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G562E	ENST00000268070.4	37	c.1685	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.335844	0.95758	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	D	0.83673	-1.75	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	D	0.92971	0.7763	M	0.90542	3.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94174	0.7426	10	0.72032	D	0.01	.	18.8106	0.92056	0.0:1.0:0.0:0.0	.	319;562	Q8TE56-2;Q8TE56	.;ATS17_HUMAN	E	562;319	ENSP00000268070:G562E	ENSP00000268070:G562E	G	-	2	0	ADAMTS17	98489771	1.000000	0.71417	0.994000	0.49952	0.995000	0.86356	7.194000	0.77789	2.423000	0.82170	0.561000	0.74099	GGA	ADAMTS17	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	ENSG00000140470		0.642	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	43	0.00	0	C	NM_139057		100672248	100672248	-1	no_errors	ENST00000268070	ensembl	human	known	69_37n	missense	22	29.03	9	SNP	1.000	T
ALG8	79053	genome.wustl.edu	37	11	77812019	77812019	+	Silent	SNP	C	C	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr11:77812019C>T	ENST00000299626.5	-	13	1643	c.1572G>A	c.(1570-1572)aaG>aaA	p.K524K	ALG8_ENST00000532552.2_5'Flank|ALG8_ENST00000376156.3_3'UTR	NM_024079.4	NP_076984.2	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	524					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|mannosylation (GO:0097502)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-1,3-mannosyltransferase activity (GO:0000033)			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			TTCATTGTTTCTTTGTCTTGC	0.378																																						dbGAP											0													112.0	106.0	108.0					11																	77812019		2200	4292	6492	-	-	-	SO:0001819	synonymous_variant	0			AJ224875	CCDS8258.1, CCDS41692.1	11q14.1	2013-03-01	2013-03-01		ENSG00000159063	ENSG00000159063	2.4.1.265		23161	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Glc(1)Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	608103	"""asparagine-linked glycosylation 8 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 8, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""				Standard	XM_005274247		Approved	MGC2840	uc001oza.1	Q9BVK2	OTTHUMG00000166594	ENST00000299626.5:c.1572G>A	11.37:g.77812019C>T			A6NDW6|O60860	Missense_Mutation	SNP	pfam_Glyco_trans_ALG6/ALG8	p.R226K	ENST00000299626.5	37	c.677	CCDS8258.1	11	.	.	.	.	.	.	.	.	.	.	C	7.494	0.651178	0.14516	.	.	ENSG00000159063	ENST00000530608	.	.	.	4.95	4.04	0.47022	.	.	.	.	.	T	0.69468	0.3114	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69243	-0.5196	4	.	.	.	-7.0446	14.0083	0.64478	0.0:0.9268:0.0:0.0732	.	.	.	.	K	226	.	.	R	-	2	0	ALG8	77489667	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	3.297000	0.51810	1.441000	0.47550	0.563000	0.77884	AGA	ALG8	-	NULL	ENSG00000159063		0.378	ALG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG8	HGNC	protein_coding	OTTHUMT00000390637.1	90	0.00	0	C	NM_024079		77812019	77812019	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000530608	ensembl	human	novel	69_37n	missense	64	26.44	23	SNP	0.994	T
ANTXR1	84168	genome.wustl.edu	37	2	69472437	69472437	+	Silent	SNP	G	G	A	rs573467642		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr2:69472437G>A	ENST00000303714.4	+	18	1837	c.1515G>A	c.(1513-1515)tcG>tcA	p.S505S		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	505					actin cytoskeleton reorganization (GO:0031532)|reproductive process (GO:0022414)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|integral component of membrane (GO:0016021)|lamellipodium membrane (GO:0031258)	actin filament binding (GO:0051015)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|transmembrane signaling receptor activity (GO:0004888)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACAcctcctcgccgcctcctg	0.642									Familial Infantile Hemangioma				G|||	1	0.000199681	0.0008	0.0	5008	,	,		7146	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													133.0	137.0	135.0					2																	69472437		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Infantile Capillary Hemangioma, HCI, Hereditary Capillary Hemangioma	AF421380	CCDS1892.1, CCDS46313.1, CCDS46314.1	2p13.1	2006-04-12			ENSG00000169604	ENSG00000169604			21014	protein-coding gene	gene with protein product	"""anthrax toxin receptor"", ""tumor endothelial marker 8 precursor"""	606410				10947988, 11559528	Standard	NM_032208		Approved	TEM8, FLJ21776, FLJ10601, ATR	uc002sfg.3	Q9H6X2	OTTHUMG00000129575	ENST00000303714.4:c.1515G>A	2.37:g.69472437G>A			A8K7U8|J7K7G4|J7KF88|Q4ZFV6|Q53QD8|Q96P02|Q9NVP3	Silent	SNP	pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_extracel,pfam_Anthrax_toxin_rcpt_C,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S505	ENST00000303714.4	37	c.1515	CCDS1892.1	2																																																																																			ANTXR1	-	NULL	ENSG00000169604		0.642	ANTXR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR1	HGNC	protein_coding	OTTHUMT00000251770.2	143	0.00	0	G	NM_032208		69472437	69472437	+1	no_errors	ENST00000303714	ensembl	human	known	69_37n	silent	116	26.11	41	SNP	0.111	A
ATP13A5	344905	genome.wustl.edu	37	3	193068973	193068974	+	Frame_Shift_Del	DEL	AT	AT	-			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr3:193068973_193068974delAT	ENST00000342358.4	-	7	740_741	c.623_624delAT	c.(622-624)tatfs	p.Y208fs		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	208						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTGGAACACATAGAATGGATT	0.376																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK122613	CCDS33914.1	3q29	2010-04-20			ENSG00000187527	ENSG00000187527		"""ATPases / P-type"""	31789	protein-coding gene	gene with protein product							Standard	NM_198505		Approved	FLJ16025	uc011bsq.2	Q4VNC0	OTTHUMG00000156101	ENST00000342358.4:c.623_624delAT	3.37:g.193068973_193068974delAT	ENSP00000341942:p.Tyr208fs		Q6UWS4|Q6ZWL0	Frame_Shift_Del	DEL	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.Y208fs	ENST00000342358.4	37	c.624_623	CCDS33914.1	3																																																																																			ATP13A5	-	pfam_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000187527		0.376	ATP13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A5	HGNC	protein_coding	OTTHUMT00000343012.1	61	0.00	0	AT	NM_198505		193068973	193068974	-1	no_errors	ENST00000342358	ensembl	human	known	69_37n	frame_shift_del	94	15.32	17	DEL	0.891:0.997	-
ATP7B	540	genome.wustl.edu	37	13	52548306	52548306	+	Silent	SNP	C	C	T	rs372191499		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr13:52548306C>T	ENST00000242839.4	-	2	1206	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	ATP7B_ENST00000344297.5_Silent_p.P350P|ATP7B_ENST00000400366.3_Intron|ATP7B_ENST00000448424.2_Silent_p.P350P|ATP7B_ENST00000542656.1_Silent_p.P318P|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000400370.3_Silent_p.P350P|ATP7B_ENST00000418097.2_Silent_p.P350P	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	350					cellular copper ion homeostasis (GO:0006878)|cellular zinc ion homeostasis (GO:0006882)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|intracellular copper ion transport (GO:0015680)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|response to copper ion (GO:0046688)|sequestering of calcium ion (GO:0051208)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|mitochondrion (GO:0005739)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper-exporting ATPase activity (GO:0004008)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)	Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	CCTGGTTTCTCGGTGGGGAGC	0.532									Wilson disease																													dbGAP											0													88.0	88.0	88.0					13																	52548306		1968	4158	6126	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database		U11700	CCDS41892.1, CCDS45049.1, CCDS58293.1	13q14.3	2012-10-22	2005-11-29		ENSG00000123191	ENSG00000123191	3.6.3.4	"""ATPases / P-type"""	870	protein-coding gene	gene with protein product	"""Wilson disease"", ""copper pump 2"", ""copper-transporting ATPase 2"""	606882	"""ATPase, Cu++ transporting, beta polypeptide (Wilson disease)"""	WND		8298641, 8298639	Standard	NM_000053		Approved		uc001vfw.2	P35670	OTTHUMG00000017406	ENST00000242839.4:c.1050G>A	13.37:g.52548306C>T			Q16318|Q16319|Q4U3V3|Q59FJ9|Q5T7X7	Silent	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.P350	ENST00000242839.4	37	c.1050	CCDS41892.1	13																																																																																			ATP7B	-	NULL	ENSG00000123191		0.532	ATP7B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7B	HGNC	protein_coding	OTTHUMT00000045981.1	49	0.00	0	C	NM_000053		52548306	52548306	-1	no_errors	ENST00000242839	ensembl	human	known	69_37n	silent	21	34.38	11	SNP	0.000	T
ERICH3	127254	genome.wustl.edu	37	1	75037178	75037178	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr1:75037178C>T	ENST00000326665.5	-	14	4434	c.4216G>A	c.(4216-4218)Gag>Aag	p.E1406K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1406	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GCTAATTCCTCTACCACCACC	0.532																																						dbGAP											0													94.0	93.0	94.0					1																	75037178		2203	4300	6503	-	-	-	SO:0001583	missense	0																														ENST00000326665.5:c.4216G>A	1.37:g.75037178C>T	ENSP00000322609:p.Glu1406Lys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E1406K	ENST00000326665.5	37	c.4216	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922137	0.73213	.	.	ENSG00000178965	ENST00000326665	T	0.16743	2.32	5.0	4.07	0.47477	.	.	.	.	.	T	0.11196	0.0273	N	0.24115	0.695	0.80722	D	1	P	0.50943	0.94	P	0.53518	0.728	T	0.03739	-1.1008	9	0.42905	T	0.14	-15.1454	11.5131	0.50504	0.0:0.9092:0.0:0.0908	.	1406	Q5RHP9	CA173_HUMAN	K	1406	ENSP00000322609:E1406K	ENSP00000322609:E1406K	E	-	1	0	C1orf173	74809766	0.238000	0.23825	0.524000	0.27887	0.014000	0.08584	1.659000	0.37387	2.327000	0.79052	0.561000	0.74099	GAG	C1orf173	-	NULL	ENSG00000178965		0.532	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	66	0.00	0	C			75037178	75037178	-1	no_errors	ENST00000326665	ensembl	human	known	69_37n	missense	43	51.69	46	SNP	0.782	T
CAMK4	814	genome.wustl.edu	37	5	110679796	110679796	+	Missense_Mutation	SNP	A	A	C			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr5:110679796A>C	ENST00000282356.4	+	2	634	c.236A>C	c.(235-237)aAa>aCa	p.K79T	CAMK4_ENST00000512453.1_Missense_Mutation_p.K79T	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	79	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|long-term memory (GO:0007616)|myeloid dendritic cell differentiation (GO:0043011)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleocytoplasmic transport (GO:0006913)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of osteoclast differentiation (GO:0045670)|regulation of T cell differentiation in thymus (GO:0033081)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GTGTTAAAGAAAACAGTAAGT	0.443																																						dbGAP											0													101.0	107.0	105.0					5																	110679796		2202	4299	6501	-	-	-	SO:0001583	missense	0			D30742	CCDS4103.1	5q22.1	2012-09-20			ENSG00000152495	ENSG00000152495	2.7.11.17		1464	protein-coding gene	gene with protein product	"""brain Ca++-calmodulin-dependent protein kinase type IV"", ""calcium/calmodulin-dependent protein kinase type IV catalytic chain"", ""CAM kinase IV"", ""CAM kinase- GR"""	114080				2536634	Standard	NM_001744		Approved	CaMK-GR	uc003kpf.3	Q16566	OTTHUMG00000128792	ENST00000282356.4:c.236A>C	5.37:g.110679796A>C	ENSP00000282356:p.Lys79Thr		D3DSZ7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.K79T	ENST00000282356.4	37	c.236	CCDS4103.1	5	.	.	.	.	.	.	.	.	.	.	A	26.4	4.734411	0.89482	.	.	ENSG00000152495	ENST00000508074;ENST00000512453;ENST00000282356	T;T;T	0.68181	-0.31;-0.31;-0.31	6.16	6.16	0.99307	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79167	0.4400	M	0.77486	2.375	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	T	0.76189	-0.3050	10	0.05525	T	0.97	.	15.7887	0.78332	1.0:0.0:0.0:0.0	.	79	Q16566	KCC4_HUMAN	T	79	ENSP00000426940:K79T;ENSP00000422634:K79T;ENSP00000282356:K79T	ENSP00000282356:K79T	K	+	2	0	CAMK4	110707695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.811000	0.75221	2.367000	0.80283	0.528000	0.53228	AAA	CAMK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000152495		0.443	CAMK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMK4	HGNC	protein_coding	OTTHUMT00000250719.2	93	0.00	0	A	NM_001744		110679796	110679796	+1	no_errors	ENST00000282356	ensembl	human	known	69_37n	missense	73	16.09	14	SNP	1.000	C
CNTROB	116840	genome.wustl.edu	37	17	7847523	7847523	+	Nonsense_Mutation	SNP	C	C	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr17:7847523C>T	ENST00000563694.1	+	11	2453	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	CNTROB_ENST00000380262.3_Nonsense_Mutation_p.R510*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.R510*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.R510*	NM_053051.3	NP_444279.2	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	510	Required for centrosome localization.				centriole replication (GO:0007099)|centrosome separation (GO:0051299)|cytokinesis (GO:0000910)	centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AATGGCAGAACGAGAGGAACG	0.612																																						dbGAP											0													110.0	103.0	105.0					17																	7847523		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF331638	CCDS32557.1, CCDS11126.1	17p13.1	2006-03-15				ENSG00000170037			29616	protein-coding gene	gene with protein product	"""centrobin"""	611425				11984006, 16275750	Standard	NM_001037144		Approved	LIP8, PP1221	uc002gjp.3	Q8N137		ENST00000563694.1:c.1528C>T	17.37:g.7847523C>T	ENSP00000456335:p.Arg510*		A6NHQ1|Q331K3|Q69YV7|Q8NCB8|Q8WXV3|Q96CQ7|Q9C060	Nonsense_Mutation	SNP	NULL	p.R510*	ENST00000563694.1	37	c.1528	CCDS11126.1	17	.	.	.	.	.	.	.	.	.	.	C	44	11.076108	0.99512	.	.	ENSG00000170037	ENST00000380262;ENST00000380255	.	.	.	4.55	3.53	0.40419	.	0.160176	0.29466	N	0.012063	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.6019	11.3647	0.49664	0.3269:0.6731:0.0:0.0	.	.	.	.	X	510	.	ENSP00000369605:R510X	R	+	1	2	CNTROB	7788248	0.996000	0.38824	0.804000	0.32291	0.896000	0.52359	1.438000	0.35002	1.200000	0.43188	0.555000	0.69702	CGA	CNTROB	-	NULL	ENSG00000170037		0.612	CNTROB-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CNTROB	HGNC	protein_coding	OTTHUMT00000421372.1	33	0.00	0	C	NM_053051		7847523	7847523	+1	no_errors	ENST00000380262	ensembl	human	known	69_37n	nonsense	25	30.56	11	SNP	0.881	T
DAB2	1601	genome.wustl.edu	37	5	39383203	39383203	+	Silent	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr5:39383203G>A	ENST00000320816.6	-	10	1325	c.858C>T	c.(856-858)ttC>ttT	p.F286F	DAB2_ENST00000509337.1_Silent_p.F265F|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000545653.1_Silent_p.F265F|DAB2_ENST00000512525.1_5'Flank	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	286	Required for localization to clathrin- coated pits. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cell morphogenesis involved in differentiation (GO:0000904)|cell proliferation (GO:0008283)|cellular response to transforming growth factor beta stimulus (GO:0071560)|clathrin coat assembly (GO:0048268)|endoderm development (GO:0007492)|excretion (GO:0007588)|in utero embryonic development (GO:0001701)|leading edge cell differentiation (GO:0035026)|membrane organization (GO:0061024)|myeloid cell differentiation (GO:0030099)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein binding (GO:0032091)|negative regulation of protein localization to plasma membrane (GO:1903077)|negative regulation of transcription, DNA-templated (GO:0045892)|pinocytosis (GO:0006907)|positive regulation of cell migration (GO:0030335)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of endocytosis (GO:0045807)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of integrin-mediated signaling pathway (GO:2001046)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of receptor recycling (GO:0001921)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|clathrin coat of coated pit (GO:0030132)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	cargo receptor activity (GO:0038024)|clathrin adaptor activity (GO:0035615)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein C-terminus binding (GO:0008022)|SMAD binding (GO:0046332)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGTGGGAAAGAAGTTGAGAT	0.473																																						dbGAP											0													145.0	152.0	149.0					5																	39383203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U53446	CCDS34149.1, CCDS58946.1	5p13.1	2013-10-03	2013-03-08		ENSG00000153071	ENSG00000153071			2662	protein-coding gene	gene with protein product		601236	"""disabled (Drosophila) homolog 2 (mitogen-responsive phosphoprotein)"", ""disabled homolog 2, mitogen-responsive phosphoprotein (Drosophila)"""			8660969, 9620555	Standard	NM_001343		Approved	DOC-2	uc003jlx.3	P98082	OTTHUMG00000162043	ENST00000320816.6:c.858C>T	5.37:g.39383203G>A			A6NES5|Q13598|Q9BTY0|Q9UK04	Silent	SNP	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.F286	ENST00000320816.6	37	c.858	CCDS34149.1	5																																																																																			DAB2	-	NULL	ENSG00000153071		0.473	DAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAB2	HGNC	protein_coding	OTTHUMT00000367014.1	106	0.00	0	G	NM_001343		39383203	39383203	-1	no_errors	ENST00000320816	ensembl	human	known	69_37n	silent	93	35.42	51	SNP	1.000	A
DIP2A	23181	genome.wustl.edu	37	21	47918525	47918525	+	Missense_Mutation	SNP	C	C	G	rs377394571		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr21:47918525C>G	ENST00000417564.2	+	5	455	c.434C>G	c.(433-435)tCt>tGt	p.S145C	DIP2A_ENST00000400274.1_Missense_Mutation_p.S145C|DIP2A_ENST00000427143.2_Missense_Mutation_p.S81C|DIP2A_ENST00000457905.3_Missense_Mutation_p.S145C|DIP2A_ENST00000466639.1_Missense_Mutation_p.S145C|DIP2A_ENST00000318711.7_Missense_Mutation_p.S145C|DIP2A_ENST00000435722.3_Missense_Mutation_p.S145C			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	145					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GATGAGGGCTCTTTACGGCGA	0.587																																						dbGAP											0													144.0	161.0	155.0					21																	47918525		2134	4238	6372	-	-	-	SO:0001583	missense	0			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.434C>G	21.37:g.47918525C>G	ENSP00000392066:p.Ser145Cys		A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.S145C	ENST00000417564.2	37	c.434	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990478	0.93106	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000358985;ENST00000457905;ENST00000466639;ENST00000435722;ENST00000417564	T;T;T;T;T;T;T	0.28454	1.69;1.72;1.7;1.68;1.61;1.68;1.7	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000001	T	0.59183	0.2175	M	0.78801	2.425	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.998;0.998;0.998;1.0;1.0	D;D;P;D;D;D	0.97110	0.95;0.927;0.891;0.91;0.987;1.0	T	0.63102	-0.6712	10	0.72032	D	0.01	-8.9582	18.1659	0.89727	0.0:1.0:0.0:0.0	.	145;81;145;145;145;145	E9PER1;E7EMA5;Q14689-3;Q14689;Q14689-4;Q14689-2	.;.;.;DIP2A_HUMAN;.;.	C	145;81;145;145;145;145;145;145	ENSP00000383133:S145C;ENSP00000400528:S81C;ENSP00000323633:S145C;ENSP00000393434:S145C;ENSP00000430249:S145C;ENSP00000415089:S145C;ENSP00000392066:S145C	ENSP00000323633:S145C	S	+	2	0	DIP2A	46742953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.680000	0.84062	2.532000	0.85374	0.555000	0.69702	TCT	DIP2A	-	NULL	ENSG00000160305		0.587	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	54	0.00	0	C	NM_015151		47918525	47918525	+1	no_errors	ENST00000318711	ensembl	human	known	69_37n	missense	47	33.80	24	SNP	1.000	G
DIP2B	57609	genome.wustl.edu	37	12	51112558	51112558	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr12:51112558G>T	ENST00000301180.5	+	24	2952	c.2918G>T	c.(2917-2919)gGa>gTa	p.G973V		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	973						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CAAGCTGCTGGAAGGGATCTG	0.453																																						dbGAP											0													147.0	125.0	132.0					12																	51112558		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.2918G>T	12.37:g.51112558G>T	ENSP00000301180:p.Gly973Val		Q6B011|Q8N1L5|Q8NB38	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.G973V	ENST00000301180.5	37	c.2918	CCDS31799.1	12	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683370	0.88542	.	.	ENSG00000066084	ENST00000301180	T	0.28069	1.63	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	T	0.60971	0.2310	M	0.86651	2.83	0.80722	D	1	D	0.63880	0.993	D	0.65140	0.932	T	0.68108	-0.5496	10	0.87932	D	0	-13.7432	18.9332	0.92574	0.0:0.0:1.0:0.0	.	973	Q9P265	DIP2B_HUMAN	V	973	ENSP00000301180:G973V	ENSP00000301180:G973V	G	+	2	0	DIP2B	49398825	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.174000	0.94824	2.885000	0.99019	0.655000	0.94253	GGA	DIP2B	-	NULL	ENSG00000066084		0.453	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DIP2B	HGNC	protein_coding	OTTHUMT00000404243.1	133	0.75	1	G	NM_173602		51112558	51112558	+1	no_errors	ENST00000301180	ensembl	human	known	69_37n	missense	234	21.48	64	SNP	1.000	T
EHMT1	79813	genome.wustl.edu	37	9	140672412	140672412	+	Silent	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr9:140672412G>A	ENST00000460843.1	+	13	2124	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	EHMT1_ENST00000334856.6_Silent_p.T668T|EHMT1_ENST00000462484.1_Silent_p.T699T|EHMT1_ENST00000371394.2_3'UTR	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	699					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TTGATCCAACGGGACCTGCTG	0.637																																						dbGAP											0													74.0	83.0	79.0					9																	140672412		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2097G>A	9.37:g.140672412G>A			B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.T699	ENST00000460843.1	37	c.2097	CCDS7050.2	9																																																																																			EHMT1	-	NULL	ENSG00000181090		0.637	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	43	0.00	0	G	NM_024757		140672412	140672412	+1	no_errors	ENST00000460843	ensembl	human	known	69_37n	silent	19	36.67	11	SNP	0.000	A
FN1	2335	genome.wustl.edu	37	2	216262532	216262532	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr2:216262532C>A	ENST00000359671.1	-	22	3653	c.3388G>T	c.(3388-3390)Gaa>Taa	p.E1130*	FN1_ENST00000421182.1_Nonsense_Mutation_p.E1130*|FN1_ENST00000432072.2_Nonsense_Mutation_p.E1130*|FN1_ENST00000443816.1_Nonsense_Mutation_p.E1130*|FN1_ENST00000346544.3_Nonsense_Mutation_p.E1130*|FN1_ENST00000323926.6_Nonsense_Mutation_p.E1130*|FN1_ENST00000356005.4_Nonsense_Mutation_p.E1130*|FN1_ENST00000446046.1_Nonsense_Mutation_p.E1130*|FN1_ENST00000357867.4_Nonsense_Mutation_p.E1130*|FN1_ENST00000345488.5_Nonsense_Mutation_p.E1130*|FN1_ENST00000354785.4_Nonsense_Mutation_p.E1130*|FN1_ENST00000336916.4_Nonsense_Mutation_p.E1130*|FN1_ENST00000357009.2_Nonsense_Mutation_p.E1130*			P02751	FINC_HUMAN	fibronectin 1	1130	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316, ECO:0000255|PROSITE-ProRule:PRU00478, ECO:0000255|PROSITE-ProRule:PRU00479}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	GAAGTCACTTCTCGTGGTGCC	0.498																																						dbGAP											0													158.0	128.0	138.0					2																	216262532		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.3388G>T	2.37:g.216262532C>A	ENSP00000352696:p.Glu1130*		B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.E1130*	ENST00000359671.1	37	c.3388		2	.	.	.	.	.	.	.	.	.	.	C	45	12.005648	0.99626	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005	.	.	.	5.36	5.36	0.76844	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	19.4485	0.94857	0.0:1.0:0.0:0.0	.	.	.	.	X	1130	.	ENSP00000265313:E1130X	E	-	1	0	FN1	215970777	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	7.445000	0.80570	2.672000	0.90937	0.591000	0.81541	GAA	FN1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000115414		0.498	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		108	0.00	0	C	NM_212476		216262532	216262532	-1	no_errors	ENST00000354785	ensembl	human	known	69_37n	nonsense	79	17.53	17	SNP	1.000	A
GUSB	2990	genome.wustl.edu	37	7	65439687	65439687	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr7:65439687C>T	ENST00000304895.4	-	7	1200	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	GUSB_ENST00000345660.6_Missense_Mutation_p.R306Q|GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.R211Q	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	357					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GCCCTTCCCTCGGATCTAGGA	0.607																																						dbGAP											0													57.0	55.0	56.0					7																	65439687		2203	4300	6503	-	-	-	SO:0001583	missense	0			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.1070G>A	7.37:g.65439687C>T	ENSP00000302728:p.Arg357Gln		B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	pfam_Glyco_hydro_2_TIM,pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_Ig-like,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like,prints_Glyco_hydro_2	p.R357Q	ENST00000304895.4	37	c.1070	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	C	19.17	3.775316	0.70107	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95482	-3.72;-3.72;-2.07	4.52	3.63	0.41609	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 2, TIM barrel (1);	0.128906	0.53938	D	0.000060	D	0.97748	0.9261	M	0.89478	3.035	0.52501	D	0.999959	D;D	0.76494	0.999;0.994	D;P	0.74023	0.982;0.685	D	0.98501	1.0614	10	0.87932	D	0	.	14.0968	0.65027	0.0:0.8486:0.1514:0.0	.	211;357	E9PCV0;P08236	.;BGLR_HUMAN	Q	357;211;306	ENSP00000302728:R357Q;ENSP00000391390:R211Q;ENSP00000340734:R306Q	ENSP00000302728:R357Q	R	-	2	0	GUSB	65077122	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	7.413000	0.80104	1.240000	0.43803	0.561000	0.74099	CGA	GUSB	-	pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF	ENSG00000169919		0.607	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	HGNC	protein_coding	OTTHUMT00000251637.3	33	0.00	0	C	NM_000181		65439687	65439687	-1	no_errors	ENST00000304895	ensembl	human	known	69_37n	missense	22	37.14	13	SNP	1.000	T
HRH1	3269	genome.wustl.edu	37	3	11301339	11301339	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr3:11301339A>G	ENST00000397056.1	+	3	807	c.616A>G	c.(616-618)Atg>Gtg	p.M206V	HRH1_ENST00000438284.2_Missense_Mutation_p.M206V|HRH1_ENST00000431010.2_Missense_Mutation_p.M206V	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	206					cellular response to histamine (GO:0071420)|eosinophil chemotaxis (GO:0048245)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|inositol phosphate-mediated signaling (GO:0048016)|memory (GO:0007613)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of vasoconstriction (GO:0045907)|regulation of synaptic plasticity (GO:0048167)|regulation of vascular permeability (GO:0043114)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|histamine receptor activity (GO:0004969)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Alcaftadine(DB06766)|Alimemazine(DB01246)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Antazoline(DB08799)|Aripiprazole(DB01238)|Asenapine(DB06216)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzatropine(DB00245)|Bepotastine(DB04890)|Betahistine(DB06698)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlorcyclizine(DB08936)|Chloropyramine(DB08800)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Citalopram(DB00215)|Clemastine(DB00283)|Clofedanol(DB04837)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Dimetindene(DB08801)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Escitalopram(DB01175)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Iloperidone(DB04946)|Imipramine(DB00458)|Isothipendyl(DB08802)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Loxapine(DB00408)|Maprotiline(DB00934)|Meclizine(DB00737)|Mepyramine(DB06691)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Paliperidone(DB01267)|Phenindamine(DB01619)|Pheniramine(DB01620)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Tolazoline(DB00797)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CACCTTGCTCATGCTCTGGTT	0.517																																						dbGAP											0													224.0	194.0	204.0					3																	11301339		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2604.1	3p25	2012-11-12			ENSG00000196639	ENSG00000196639		"""GPCR / Class A : Histamine receptors"""	5182	protein-coding gene	gene with protein product		600167				8003029	Standard	NM_001098211		Approved		uc010hds.3	P35367	OTTHUMG00000129719	ENST00000397056.1:c.616A>G	3.37:g.11301339A>G	ENSP00000380247:p.Met206Val		A8K047|Q6P9E5	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H1_recept,prints_7TM_GPCR_Rhodpsn,prints_Musac_rcpt,pfscan_GPCR_Rhodpsn_supfam	p.M206V	ENST00000397056.1	37	c.616	CCDS2604.1	3	.	.	.	.	.	.	.	.	.	.	A	22.3	4.266018	0.80358	.	.	ENSG00000196639	ENST00000438284;ENST00000431010;ENST00000397056	T;T;T	0.38560	1.13;1.13;1.13	5.98	5.98	0.97165	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.50667	0.1629	M	0.72118	2.19	0.80722	D	1	P	0.46578	0.88	P	0.45167	0.472	T	0.55585	-0.8118	10	0.59425	D	0.04	-30.1356	16.4622	0.84064	1.0:0.0:0.0:0.0	.	206	P35367	HRH1_HUMAN	V	206	ENSP00000406705:M206V;ENSP00000397028:M206V;ENSP00000380247:M206V	ENSP00000380247:M206V	M	+	1	0	HRH1	11276339	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.210000	0.95106	2.289000	0.77006	0.533000	0.62120	ATG	HRH1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000196639		0.517	HRH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH1	HGNC	protein_coding	OTTHUMT00000251928.2	191	0.00	0	A			11301339	11301339	+1	no_errors	ENST00000397056	ensembl	human	known	69_37n	missense	137	17.47	29	SNP	1.000	G
KIF26B	55083	genome.wustl.edu	37	1	245582982	245582982	+	Silent	SNP	G	G	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr1:245582982G>T	ENST00000407071.2	+	4	1541	c.1101G>T	c.(1099-1101)tcG>tcT	p.S367S		NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	367					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCCCAGCCTCGCAGGGCTCCT	0.587																																						dbGAP											0													80.0	84.0	82.0					1																	245582982		1990	4157	6147	-	-	-	SO:0001819	synonymous_variant	0			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1101G>T	1.37:g.245582982G>T			Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S367	ENST00000407071.2	37	c.1101	CCDS44342.1	1																																																																																			KIF26B	-	NULL	ENSG00000162849		0.587	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	61	0.00	0	G	XM_371354		245582982	245582982	+1	no_errors	ENST00000407071	ensembl	human	known	69_37n	silent	29	70.71	70	SNP	0.012	T
KIR3DL3	115653	genome.wustl.edu	37	19	55246750	55246750	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr19:55246750G>T	ENST00000291860.1	+	6	998	c.980G>T	c.(979-981)gGg>gTg	p.G327V	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	327						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		GTTCTGATTGGGACCTCAGTG	0.458																																						dbGAP											0													281.0	228.0	246.0					19																	55246750		2001	3954	5955	-	-	-	SO:0001583	missense	0			AF352324	CCDS12903.1	19q13.4	2014-05-22			ENSG00000242019	ENSG00000242019		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16312	protein-coding gene	gene with protein product		610095				11513144	Standard	NM_153443		Approved	KIRC1, KIR3DL7, KIR44, CD158z	uc002qgu.1	Q8N743	OTTHUMG00000065884	ENST00000291860.1:c.980G>T	19.37:g.55246750G>T	ENSP00000291860:p.Gly327Val		A9PL62|A9PL64|A9PL65|A9PL66|A9PL67|A9PL68|A9PZV4|A9PZV7|A9PZV8|A9Q066|A9Q0R5|A9Q242|A9Q250|A9Q251|O95056|Q1X775|Q1X777|Q1X778|Q1X779|Q1X780|Q1X781|Q1X782|Q1X783|Q7Z7N4|Q8NHI2|Q8NHI3|Q9UEI4	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2	p.G327V	ENST00000291860.1	37	c.980	CCDS12903.1	19	.	.	.	.	.	.	.	.	.	.	g	2.267	-0.368007	0.05069	.	.	ENSG00000242019	ENST00000291860	T	0.00538	6.71	0.929	-0.343	0.12632	.	2.177950	0.03587	N	0.231165	T	0.00936	0.0031	M	0.74881	2.28	0.09310	N	1	B	0.25105	0.118	B	0.33042	0.157	T	0.47573	-0.9107	10	0.56958	D	0.05	.	4.4998	0.11858	0.0:0.0:0.6382:0.3618	.	327	Q8N743	KI3L3_HUMAN	V	327	ENSP00000291860:G327V	ENSP00000291860:G327V	G	+	2	0	KIR3DL3	59938562	0.001000	0.12720	0.005000	0.12908	0.009000	0.06853	0.004000	0.13106	-0.080000	0.12685	-1.296000	0.01341	GGG	KIR3DL3	-	NULL	ENSG00000242019		0.458	KIR3DL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIR3DL3	HGNC	protein_coding	OTTHUMT00000141147.1	745	0.00	0	G	NM_153443		55246750	55246750	+1	no_errors	ENST00000291860	ensembl	human	known	69_37n	missense	573	32.59	277	SNP	0.006	T
LRRC2	79442	genome.wustl.edu	37	3	46560544	46560544	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr3:46560544G>A	ENST00000395905.3	-	9	1468	c.1076C>T	c.(1075-1077)cCc>cTc	p.P359L	LRRC2_ENST00000296144.3_Missense_Mutation_p.P359L	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	359										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GGTATAGCTGGGAACAGATTC	0.333																																						dbGAP											0													167.0	187.0	180.0					3																	46560544		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ308569	CCDS2741.1	3p21.3	2014-07-30	2003-11-19		ENSG00000163827	ENSG00000163827			14676	protein-coding gene	gene with protein product		607180	"""leucine-rich repeat-containing 2"""			11896456	Standard	NM_024512		Approved		uc010hji.3	Q9BYS8	OTTHUMG00000133479	ENST00000395905.3:c.1076C>T	3.37:g.46560544G>A	ENSP00000379241:p.Pro359Leu		B2RDQ7|Q96LT5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P359L	ENST00000395905.3	37	c.1076	CCDS2741.1	3	.	.	.	.	.	.	.	.	.	.	G	19.91	3.915363	0.73098	.	.	ENSG00000163827	ENST00000395905;ENST00000296144	T;T	0.18174	2.23;2.23	4.15	4.15	0.48705	.	0.000000	0.64402	D	0.000013	T	0.24314	0.0589	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.01382	-1.1369	10	0.22706	T	0.39	.	12.2462	0.54572	0.0:0.0:1.0:0.0	.	359	Q9BYS8	LRRC2_HUMAN	L	359	ENSP00000379241:P359L;ENSP00000296144:P359L	ENSP00000296144:P359L	P	-	2	0	LRRC2	46535548	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.134000	0.64770	2.597000	0.87782	0.591000	0.81541	CCC	LRRC2	-	NULL	ENSG00000163827		0.333	LRRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC2	HGNC	protein_coding	OTTHUMT00000257375.2	112	0.00	0	G			46560544	46560544	-1	no_errors	ENST00000296144	ensembl	human	known	69_37n	missense	75	21.05	20	SNP	1.000	A
MAP2K4	6416	genome.wustl.edu	37	17	12032481	12032481	+	Missense_Mutation	SNP	C	C	G			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr17:12032481C>G	ENST00000353533.5	+	9	980	c.917C>G	c.(916-918)cCt>cGt	p.P306R	MAP2K4_ENST00000415385.3_Missense_Mutation_p.P317R	NM_003010.2	NP_003001.1	P45985	MP2K4_HUMAN	mitogen-activated protein kinase kinase 4	306	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron apoptotic process (GO:0043525)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|nucleus (GO:0005634)|perikaryon (GO:0043204)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)	p.0?(10)|p.P306H(1)|p.?(1)		NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	100		all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163)		Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681)		GGCCGATTTCCTTATCCAAAG	0.443			"""D, Mis, N"""		"""pancreatic, breast, colorectal"""																																	dbGAP		Rec	yes		17	17p11.2	6416	mitogen-activated protein kinase kinase 4		E	12	Whole gene deletion(10)|Substitution - Missense(1)|Unknown(1)	breast(4)|ovary(4)|biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)											67.0	62.0	64.0					17																	12032481		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36870	CCDS11162.1, CCDS62095.1	17p12	2012-03-23			ENSG00000065559	ENSG00000065559	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6844	protein-coding gene	gene with protein product		601335		SERK1		7716521	Standard	NM_003010		Approved	MEK4, JNKK1, PRKMK4, MKK4	uc002gnj.3	P45985		ENST00000353533.5:c.917C>G	17.37:g.12032481C>G	ENSP00000262445:p.Pro306Arg		B2R7N7|B3KYB2|D3DTS5|Q5U0B8|Q6FHX4|Q6P9H2|Q6PIE6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P317R	ENST00000353533.5	37	c.950	CCDS11162.1	17	.	.	.	.	.	.	.	.	.	.	C	26.1	4.703843	0.88924	.	.	ENSG00000065559	ENST00000353533;ENST00000415385;ENST00000538465;ENST00000536413	T;T	0.33865	1.39;1.39	5.1	5.1	0.69264	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.72961	0.3526	H	0.96430	3.82	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	T	0.81972	-0.0688	10	0.87932	D	0	.	17.8069	0.88604	0.0:1.0:0.0:0.0	.	178;317;306	B7ZA62;P45985-2;P45985	.;.;MP2K4_HUMAN	R	306;317;283;178	ENSP00000262445:P306R;ENSP00000410402:P317R	ENSP00000262445:P306R	P	+	2	0	MAP2K4	11973206	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.597000	0.82733	2.805000	0.96524	0.655000	0.94253	CCT	MAP2K4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000065559		0.443	MAP2K4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP2K4	HGNC	protein_coding	OTTHUMT00000441226.1	52	0.00	0	C			12032481	12032481	+1	no_errors	ENST00000415385	ensembl	human	known	69_37n	missense	21	47.50	19	SNP	1.000	G
MAPK6	5597	genome.wustl.edu	37	15	52356190	52356190	+	Missense_Mutation	SNP	G	G	T	rs367920269		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr15:52356190G>T	ENST00000261845.5	+	6	1966	c.1159G>T	c.(1159-1161)Gat>Tat	p.D387Y	CTD-2184D3.5_ENST00000558607.1_RNA	NM_002748.3	NP_002739.1	Q16659	MK06_HUMAN	mitogen-activated protein kinase 6	387					cell cycle (GO:0007049)|MAPK cascade (GO:0000165)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	20				all cancers(107;0.0028)		AGCTCTGTCCGATGTCACTGA	0.393																																						dbGAP											0													105.0	97.0	100.0					15																	52356190		2195	4293	6488	-	-	-	SO:0001583	missense	0			L77964	CCDS10147.1	15q21	2011-06-10			ENSG00000069956	ENSG00000069956		"""Mitogen-activated protein kinase cascade / Kinases"""	6879	protein-coding gene	gene with protein product		602904		PRKM6		8875998	Standard	NM_002748		Approved	ERK3, p97MAPK, HsT17250	uc002abp.3	Q16659	OTTHUMG00000131891	ENST00000261845.5:c.1159G>T	15.37:g.52356190G>T	ENSP00000261845:p.Asp387Tyr		B2R945|B5BU65|Q68DH4|Q8IYN8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_ERK3/4	p.D387Y	ENST00000261845.5	37	c.1159	CCDS10147.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.770029	0.90020	.	.	ENSG00000069956	ENST00000261845	T	0.51325	0.71	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.63792	0.2541	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.66329	-0.5951	10	0.87932	D	0	-21.2717	18.9317	0.92568	0.0:0.0:1.0:0.0	.	387	Q16659	MK06_HUMAN	Y	387	ENSP00000261845:D387Y	ENSP00000261845:D387Y	D	+	1	0	MAPK6	50143482	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.211000	0.95120	2.501000	0.84356	0.644000	0.83932	GAT	MAPK6	-	NULL	ENSG00000069956		0.393	MAPK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK6	HGNC	protein_coding	OTTHUMT00000254841.2	96	0.00	0	G	NM_002748		52356190	52356190	+1	no_errors	ENST00000261845	ensembl	human	known	69_37n	missense	81	24.07	26	SNP	1.000	T
MCCC1	56922	genome.wustl.edu	37	3	182810273	182810273	+	Missense_Mutation	SNP	C	C	T	rs569042803		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr3:182810273C>T	ENST00000265594.4	-	3	343	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MCCC1_ENST00000539926.1_Intron|MCCC1_ENST00000492597.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	66	Biotin carboxylation.				biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.R66H(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TTTGGCTGTGCGCATCACCCT	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		20809	0.0		0.0	False		,,,				2504	0.001					dbGAP											1	Substitution - Missense(1)	endometrium(1)											133.0	113.0	120.0					3																	182810273		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.197G>A	3.37:g.182810273C>T	ENSP00000265594:p.Arg66His		Q59ES4|Q9H959|Q9NS97	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_DUF201-type,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl	p.R66H	ENST00000265594.4	37	c.197	CCDS3241.1	3	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433362	0.83776	.	.	ENSG00000078070	ENST00000265594	D	0.98090	-4.71	5.86	4.06	0.47325	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Biotin carboxylation domain (1);Carbamoyl-phosphate synthase, large subunit, N-terminal (1);	0.111662	0.64402	D	0.000006	D	0.97539	0.9194	M	0.87971	2.92	0.80722	D	1	P	0.44986	0.847	P	0.45558	0.485	D	0.97540	1.0085	10	0.72032	D	0.01	.	11.929	0.52835	0.0:0.8555:0.0:0.1445	.	66	Q96RQ3	MCCA_HUMAN	H	66	ENSP00000265594:R66H	ENSP00000265594:R66H	R	-	2	0	MCCC1	184292967	1.000000	0.71417	0.962000	0.40283	0.944000	0.59088	4.408000	0.59761	1.493000	0.48517	0.655000	0.94253	CGC	MCCC1	-	pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_fold,pfscan_Biotin_carboxylation_dom	ENSG00000078070		0.418	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCCC1	HGNC	protein_coding	OTTHUMT00000350775.1	131	0.00	0	C	NM_020166		182810273	182810273	-1	no_errors	ENST00000265594	ensembl	human	known	69_37n	missense	177	13.24	27	SNP	0.997	T
MGAM	8972	genome.wustl.edu	37	7	141755462	141755462	+	Missense_Mutation	SNP	G	G	T	rs185758556	byFrequency	TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr7:141755462G>T	ENST00000549489.2	+	28	3514	c.3419G>T	c.(3418-3420)aGg>aTg	p.R1140M	MGAM_ENST00000475668.2_Missense_Mutation_p.R1140M	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1140	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTGAGCACAGGTCCTATAGG	0.542																																						dbGAP											0													105.0	96.0	99.0					7																	141755462		1899	4117	6016	-	-	-	SO:0001583	missense	0			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.3419G>T	7.37:g.141755462G>T	ENSP00000447378:p.Arg1140Met		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.R1140M	ENST00000549489.2	37	c.3419	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	G	0.891	-0.725422	0.03158	.	.	ENSG00000257335	ENST00000549489;ENST00000475668;ENST00000548812	D	0.87809	-2.3	3.74	0.566	0.17317	Glycoside hydrolase-type carbohydrate-binding (1);	.	.	.	.	D	0.82549	0.5061	L	0.54323	1.7	0.09310	N	1	B	0.19583	0.037	B	0.15870	0.014	T	0.71013	-0.4715	9	0.49607	T	0.09	.	9.6538	0.39914	0.1459:0.2819:0.5722:0.0	.	1140	O43451	MGA_HUMAN	M	1140;1140;1017	ENSP00000447378:R1140M	ENSP00000316431:R1017M	R	+	2	0	MGAM	141401931	0.000000	0.05858	0.199000	0.23439	0.005000	0.04900	-0.787000	0.04618	0.108000	0.17862	-2.046000	0.00415	AGG	MGAM	-	superfamily_Glyco_hydro-type_carb-bd	ENSG00000257335		0.542	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	122	0.00	0	G			141755462	141755462	+1	no_errors	ENST00000549489	ensembl	human	known	69_37n	missense	88	33.83	45	SNP	0.057	T
MST1L	11223	genome.wustl.edu	37	1	17085795	17085795	+	RNA	SNP	G	G	T	rs1057379	byFrequency	TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr1:17085795G>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.I332I(2)|p.I342I(2)									TACAACGCCGGATCTGGTAGC	0.687																																						dbGAP											4	Substitution - coding silent(4)	kidney(2)|endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085795G>T			B7WPB1|Q13209	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.I342	ENST00000455405.2	37	c.1026		1																																																																																			MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.687	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	31	0.00	0	G	NM_001271733		17085795	17085795	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	silent	17	15.00	3	SNP	1.000	T
MST1L	11223	genome.wustl.edu	37	1	17086870	17086870	+	RNA	SNP	T	T	C	rs2261727	byFrequency	TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr1:17086870T>C	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.S152G(1)|p.S157G(1)									GATTTGATGCTGCAGCTCTGG	0.637													.|||	2506	0.500399	0.3472	0.4553	5008	,	,		18293	0.7867		0.503	False		,,,				2504	0.4417					dbGAP											2	Substitution - Missense(2)	endometrium(2)																																								-	-	-			0			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17086870T>C			B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.S152G	ENST00000455405.2	37	c.454		1	.	.	.	.	.	.	.	.	.	.	.	0.016	-1.524891	0.00959	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	0.000000	0.43110	N	0.000616	T	0.16300	0.0392	.	.	.	.	.	.	B	0.06786	0.001	B	0.04013	0.001	T	0.27088	-1.0084	6	0.08599	T	0.76	.	4.4522	0.11626	0.0:0.6658:0.0:0.3342	.	152	Q2TV78-2	.	G	157;152;152	.	ENSP00000439273:S152G	S	-	1	0	MST1P9	16959457	0.965000	0.33210	0.893000	0.35052	0.000000	0.00434	0.439000	0.21575	-0.406000	0.07588	0.000000	0.15137	AGC	MST1P9	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle	ENSG00000186715		0.637	MST1L-002	KNOWN	basic	processed_transcript	MST1P9	HGNC	pseudogene	OTTHUMT00000400328.1	28	0.00	0	T	NM_001271733		17086870	17086870	-1	no_errors	ENST00000334998	ensembl	human	known	69_37n	missense	24	25.00	8	SNP	1.000	C
OR2T2	401992	genome.wustl.edu	37	1	248616764	248616764	+	Silent	SNP	C	C	T	rs376553658		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr1:248616764C>T	ENST00000342927.3	+	1	688	c.666C>T	c.(664-666)atC>atT	p.I222I		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	222						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACACGCACATCCTCCTGACTG	0.542																																						dbGAP											0													182.0	125.0	144.0					1																	248616764		2186	4264	6450	-	-	-	SO:0001819	synonymous_variant	0			BK004462	CCDS31116.1	1q44	2012-08-09	2002-11-13	2002-11-15	ENSG00000196240	ENSG00000196240		"""GPCR / Class A : Olfactory receptors"""	14725	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily T, member 2 pseudogene"""	OR2T2P		14983052	Standard	NM_001004136		Approved		uc001iek.1	Q6IF00	OTTHUMG00000040480	ENST00000342927.3:c.666C>T	1.37:g.248616764C>T			B2RNM1|B9EH01	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.I222	ENST00000342927.3	37	c.666	CCDS31116.1	1																																																																																			OR2T2	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000196240		0.542	OR2T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T2	HGNC	protein_coding	OTTHUMT00000097421.1	101	0.98	1	C	NM_001004136		248616764	248616764	+1	no_errors	ENST00000342927	ensembl	human	known	69_37n	silent	35	22.22	10	SNP	0.001	T
PHLDA1	22822	genome.wustl.edu	37	12	76424952	76424952	+	Missense_Mutation	SNP	C	C	G	rs200070422		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr12:76424952C>G	ENST00000266671.5	-	1	2760	c.570G>C	c.(568-570)caG>caC	p.Q190H	PHLDA1_ENST00000602540.1_Missense_Mutation_p.Q49H|RP11-290L1.3_ENST00000552367.1_RNA|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	190	PH.|Poly-Gln.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gctgctgctgctggtgttgca	0.647																																						dbGAP											0													15.0	16.0	16.0					12																	76424952		2187	4269	6456	-	-	-	SO:0001583	missense	0			Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.570G>C	12.37:g.76424952C>G	ENSP00000266671:p.Gln190His		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	smart_Pleckstrin_homology	p.Q190H	ENST00000266671.5	37	c.570	CCDS31861.1	12	.	.	.	.	.	.	.	.	.	.	C	12.14	1.847435	0.32606	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.25749	1.78	3.66	2.74	0.32292	Pleckstrin homology domain (1);	.	.	.	.	T	0.15478	0.0373	N	0.14661	0.345	0.26866	N	0.967856	B	0.06786	0.001	B	0.04013	0.001	T	0.19549	-1.0302	9	0.87932	D	0	.	8.7699	0.34726	0.0:0.767:0.233:0.0	.	190	Q8WV24	PHLA1_HUMAN	H	190;49	ENSP00000266671:Q190H	ENSP00000266671:Q190H	Q	-	3	2	PHLDA1	74711219	0.991000	0.36638	0.886000	0.34754	0.865000	0.49528	0.349000	0.20055	0.710000	0.31997	0.561000	0.74099	CAG	PHLDA1	-	smart_Pleckstrin_homology	ENSG00000139289		0.647	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PHLDA1	HGNC	protein_coding	OTTHUMT00000405846.2	20	0.00	0	C	NM_007350		76424952	76424952	-1	no_errors	ENST00000266671	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	0.996	G
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	82	0.00	0	G			178936091	178936091	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	70	38.60	44	SNP	1.000	A
PIPSL	266971	genome.wustl.edu	37	10	95718978	95718978	+	RNA	SNP	C	C	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr10:95718978C>T	ENST00000480546.1	-	0	2319					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										GCAGCAGAAGCTGCAGCTGCC	0.592																																						dbGAP											0																																										-	-	-			0			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95718978C>T			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-	ENSG00000180764		0.592	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	38	0.00	0	C	NR_002319		95718978	95718978	-1	no_errors	ENST00000480546	ensembl	human	putative	69_37n	rna	47	14.55	8	SNP	0.998	T
PPP1R26	9858	genome.wustl.edu	37	9	138378571	138378571	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr9:138378571C>T	ENST00000356818.2	+	4	2764	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	PPP1R26_ENST00000604351.1_Missense_Mutation_p.R739W|PPP1R26_ENST00000401470.3_Missense_Mutation_p.R739W|PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.R739W|PPP1R26_ENST00000605286.1_Missense_Mutation_p.R739W	NM_014811.3	NP_055626.3	Q5T8A7	PPR26_HUMAN	protein phosphatase 1, regulatory subunit 26	739					negative regulation of phosphatase activity (GO:0010923)	nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										GGGCGGGCTCCGGAGAGACTG	0.617																																						dbGAP											0													6.0	8.0	7.0					9																	138378571		2158	4249	6407	-	-	-	SO:0001583	missense	0			AB014549	CCDS6988.1	9q34.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000196422	ENSG00000196422		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29089	protein-coding gene	gene with protein product	"""DRIM/UTP20 interacting protein"", ""1A6/DRIM (down-regulated in metastasis) interacting protein"""	614056	"""KIAA0649"""	KIAA0649		9734811, 16053918	Standard	NM_014811		Approved		uc004cfr.1	Q5T8A7	OTTHUMG00000020904	ENST00000356818.2:c.2215C>T	9.37:g.138378571C>T	ENSP00000349274:p.Arg739Trp		Q86WU0|Q8WVV0|Q9Y4D3	Missense_Mutation	SNP	NULL	p.R739W	ENST00000356818.2	37	c.2215	CCDS6988.1	9	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420717	0.83559	.	.	ENSG00000196422	ENST00000356818	T	0.10382	2.88	4.92	4.92	0.64577	.	0.753220	0.12338	N	0.477784	T	0.09335	0.0230	L	0.34521	1.04	0.09310	N	1	P	0.36354	0.549	B	0.22753	0.041	T	0.19614	-1.0300	10	0.72032	D	0.01	-4.5389	15.271	0.73702	0.0:1.0:0.0:0.0	.	739	Q5T8A7	PPR26_HUMAN	W	739	ENSP00000349274:R739W	ENSP00000349274:R739W	R	+	1	2	KIAA0649	137518392	0.522000	0.26266	0.014000	0.15608	0.391000	0.30476	3.077000	0.50089	2.267000	0.75376	0.462000	0.41574	CGG	PPP1R26	-	NULL	ENSG00000196422		0.617	PPP1R26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R26	HGNC	protein_coding	OTTHUMT00000054987.1	10	0.00	0	C	NM_014811		138378571	138378571	+1	no_errors	ENST00000356818	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	0.119	T
PRSS8	5652	genome.wustl.edu	37	16	31143759	31143759	+	Silent	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr16:31143759G>A	ENST00000317508.6	-	5	959	c.696C>T	c.(694-696)gaC>gaT	p.D232D	RP11-388M20.2_ENST00000563605.1_RNA|PRSS8_ENST00000568261.1_Silent_p.D178D	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of sodium ion transport (GO:0010765)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						CCTGGCAGGCGTCCTTGCCCC	0.612																																						dbGAP											0													94.0	99.0	97.0					16																	31143759		2104	4222	6326	-	-	-	SO:0001819	synonymous_variant	0			U33446	CCDS45469.1	16p11.2	2010-05-07	2007-02-21			ENSG00000052344		"""Serine peptidases / Serine peptidases"""	9491	protein-coding gene	gene with protein product	"""prostasin"""	600823				8838796, 7768952	Standard	NM_002773		Approved		uc002ebc.4	Q16651		ENST00000317508.6:c.696C>T	16.37:g.31143759G>A			B4DWP2|Q9UCA3	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	p.D232	ENST00000317508.6	37	c.696	CCDS45469.1	16																																																																																			PRSS8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6	ENSG00000052344		0.612	PRSS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS8	HGNC	protein_coding	OTTHUMT00000433536.1	60	0.00	0	G	NM_002773		31143759	31143759	-1	no_errors	ENST00000317508	ensembl	human	known	69_37n	silent	93	26.77	34	SNP	0.974	A
SCN9A	6335	genome.wustl.edu	37	2	167055875	167055875	+	Silent	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr2:167055875G>A	ENST00000409435.1	-	26	5273	c.5274C>T	c.(5272-5274)gtC>gtT	p.V1758V	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Silent_p.V1759V|SCN9A_ENST00000409672.1_Silent_p.V1747V|SCN9A_ENST00000375387.4_Silent_p.V1759V			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1758					behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	TCTCCAGTATGACTGCAATGT	0.408																																						dbGAP											0													156.0	162.0	160.0					2																	167055875		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.5274C>T	2.37:g.167055875G>A			A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Silent	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2	p.V1759	ENST00000409435.1	37	c.5277	CCDS46441.1	2																																																																																			SCN9A	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	ENSG00000169432		0.408	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	132	0.00	0	G	NM_002977		167055875	167055875	-1	no_errors	ENST00000303354	ensembl	human	known	69_37n	silent	124	18.42	28	SNP	1.000	A
SERPING1	710	genome.wustl.edu	37	11	57367733	57367733	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr11:57367733G>A	ENST00000278407.4	+	3	660	c.433G>A	c.(433-435)Gct>Act	p.A145T	SERPING1_ENST00000378324.2_Missense_Mutation_p.A93T|SERPING1_ENST00000403558.1_Missense_Mutation_p.A179T|SERPING1_ENST00000378323.4_Missense_Mutation_p.A150T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A145T	NM_000062.2	NP_000053.2	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	145					blood circulation (GO:0008015)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|negative regulation of complement activation, lectin pathway (GO:0001869)|negative regulation of endopeptidase activity (GO:0010951)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule lumen (GO:0031093)	serine-type endopeptidase inhibitor activity (GO:0004867)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GTTGGGGGATGCTTTGGTAGA	0.537																																						dbGAP											0													129.0	134.0	132.0					11																	57367733		2201	4296	6497	-	-	-	SO:0001583	missense	0			X54486	CCDS7962.1	11q12.1	2014-09-17	2008-07-31		ENSG00000149131	ENSG00000149131		"""Serine (or cysteine) peptidase inhibitors"""	1228	protein-coding gene	gene with protein product	"""plasma protease C1 inhibitor"", ""angioedema, hereditary"""	606860	"""serine (or cysteine) proteinase inhibitor, clade G (C1 inhibitor), member 1, (angioedema, hereditary)"""	C1NH		2026152, 24172014	Standard	NM_000062		Approved	C1IN, C1-INH, HAE1, HAE2	uc001nkp.1	P05155	OTTHUMG00000150304	ENST00000278407.4:c.433G>A	11.37:g.57367733G>A	ENSP00000278407:p.Ala145Thr		A6NMU0|A8KAI9|B2R6L5|B4E1F0|B4E1H2|Q16304|Q547W3|Q59EI5|Q7Z455|Q96FE0|Q9UC49|Q9UCF9	Missense_Mutation	SNP	pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom	p.A145T	ENST00000278407.4	37	c.433	CCDS7962.1	11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214658	0.79352	.	.	ENSG00000149131	ENST00000405496;ENST00000278407;ENST00000340687;ENST00000378323;ENST00000378324;ENST00000403558	D;D;D;D;D;D	0.95724	-3.79;-2.03;-2.03;-2.03;-2.03;-2.03	5.94	4.98	0.66077	Serpin domain (2);	0.128424	0.53938	D	0.000046	D	0.97297	0.9116	M	0.83953	2.67	0.26256	N	0.978658	D;D;D;D	0.89917	0.993;1.0;0.993;0.993	D;D;D;D	0.77004	0.941;0.989;0.941;0.941	D	0.92991	0.6415	10	0.34782	T	0.22	.	11.6699	0.51395	0.0:0.0:0.7801:0.2199	.	150;179;145;145	B4E1F0;E9PGN7;E9KL26;P05155	.;.;.;IC1_HUMAN	T	145;145;145;150;93;179	ENSP00000384561:A145T;ENSP00000278407:A145T;ENSP00000341861:A145T;ENSP00000367574:A150T;ENSP00000367575:A93T;ENSP00000384420:A179T	ENSP00000278407:A145T	A	+	1	0	SERPING1	57124309	0.967000	0.33354	0.154000	0.22540	0.146000	0.21551	2.554000	0.45845	1.350000	0.45770	0.561000	0.74099	GCT	SERPING1	-	pfam_Sepin_dom,superfamily_Sepin_dom	ENSG00000149131		0.537	SERPING1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SERPING1	HGNC	protein_coding	OTTHUMT00000317465.1	111	0.00	0	G	NM_000062		57367733	57367733	+1	no_errors	ENST00000278407	ensembl	human	known	69_37n	missense	141	22.10	40	SNP	0.399	A
SHANK1	50944	genome.wustl.edu	37	19	51217199	51217199	+	Silent	SNP	G	G	T			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr19:51217199G>T	ENST00000293441.1	-	5	666	c.648C>A	c.(646-648)ccC>ccA	p.P216P	SHANK1_ENST00000359082.3_Silent_p.P216P|SHANK1_ENST00000391814.1_Silent_p.P216P	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	216					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCAGTGTCAAGGGGGTCTCTG	0.632																																						dbGAP											0													32.0	33.0	33.0					19																	51217199		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.648C>A	19.37:g.51217199G>T			A8MXP5|B7WNY6|Q9NYW9	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P216	ENST00000293441.1	37	c.648	CCDS12799.1	19																																																																																			SHANK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000161681		0.632	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	35	0.00	0	G	NM_016148		51217199	51217199	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	silent	31	18.42	7	SNP	0.888	T
SLC35A2	7355	genome.wustl.edu	37	X	48761929	48761929	+	Intron	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chrX:48761929G>A	ENST00000247138.5	-	4	1167				SLC35A2_ENST00000413561.2_3'UTR|SLC35A2_ENST00000445167.2_Missense_Mutation_p.R223C|SLC35A2_ENST00000452555.2_3'UTR|SLC35A2_ENST00000376515.3_Missense_Mutation_p.R199C|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376521.1_3'UTR	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2						galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GGAGGGTGGCGACTTGGGTCC	0.622																																						dbGAP											0													32.0	27.0	29.0					X																	48761929		2203	4296	6499	-	-	-	SO:0001627	intron_variant	0			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1163+93C>T	X.37:g.48761929G>A			A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt	p.R223C	ENST00000247138.5	37	c.667	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	g	0.016	-1.527833	0.00959	.	.	ENSG00000102100	ENST00000445167;ENST00000376515	.	.	.	4.47	-7.42	0.01388	.	.	.	.	.	T	0.19565	0.0470	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.36939	-0.9727	8	0.87932	D	0	.	9.0119	0.36146	0.5199:0.0976:0.3825:0.0	.	223	P78381-3	.	C	223;199	.	ENSP00000365698:R199C	R	-	1	0	SLC35A2	48646873	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.535000	0.00940	-2.759000	0.00371	-2.038000	0.00419	CGC	SLC35A2	-	NULL	ENSG00000102100		0.622	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	43	0.00	0	G	NM_005660		48761929	48761929	-1	no_errors	ENST00000445167	ensembl	human	known	69_37n	missense	44	20.00	11	SNP	0.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228881454	228881454	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr2:228881454C>A	ENST00000392056.3	-	7	4162	c.4116G>T	c.(4114-4116)agG>agT	p.R1372S	SPHKAP_ENST00000344657.5_Missense_Mutation_p.R1372S	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1372						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGAGTCTTTCCTCGGGCAAT	0.473																																						dbGAP											0													73.0	74.0	74.0					2																	228881454		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4116G>T	2.37:g.228881454C>A	ENSP00000375909:p.Arg1372Ser		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.R1372S	ENST00000392056.3	37	c.4116	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	4.026	0.002279	0.07819	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.11277	2.79;2.79	5.66	2.53	0.30540	.	0.495179	0.24370	N	0.039114	T	0.07234	0.0183	L	0.50919	1.6	0.09310	N	1	B;B;B	0.26708	0.013;0.068;0.157	B;B;B	0.15870	0.003;0.014;0.013	T	0.34004	-0.9846	10	0.13470	T	0.59	.	2.9171	0.05756	0.2059:0.5251:0.1217:0.1474	.	403;1372;1372	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	S	1372	ENSP00000375909:R1372S;ENSP00000339886:R1372S	ENSP00000339886:R1372S	R	-	3	2	SPHKAP	228589698	0.862000	0.29867	0.240000	0.24138	0.200000	0.23975	0.480000	0.22244	0.721000	0.32231	0.655000	0.94253	AGG	SPHKAP	-	NULL	ENSG00000153820		0.473	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	61	0.00	0	C	NM_030623		228881454	228881454	-1	no_errors	ENST00000392056	ensembl	human	known	69_37n	missense	62	17.33	13	SNP	0.022	A
SPTB	6710	genome.wustl.edu	37	14	65239968	65239968	+	Silent	SNP	C	C	T	rs539974597		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr14:65239968C>T	ENST00000389721.5	-	24	5180	c.5148G>A	c.(5146-5148)ccG>ccA	p.P1716P	SPTB_ENST00000389720.3_Silent_p.P1716P|SPTB_ENST00000556626.1_Silent_p.P1716P|SPTB_ENST00000542895.1_Silent_p.P1716P|SPTB_ENST00000389722.3_Silent_p.P1716P	NM_000347.5	NP_000338.3	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1716					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ankyrin binding (GO:0030506)|structural constituent of cytoskeleton (GO:0005200)	p.P1716P(1)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GCCCCATTTCCGGGGAAGAGG	0.542													c|||	1	0.000199681	0.0	0.0	5008	,	,		20008	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	lung(1)											89.0	79.0	82.0					14																	65239968		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS32099.1, CCDS32100.1	14q24.1-q24.2	2013-01-10	2008-07-29			ENSG00000070182		"""Pleckstrin homology (PH) domain containing"""	11274	protein-coding gene	gene with protein product	"""spherocytosis, clinical type I"""	182870				2209094	Standard	NM_001024858		Approved		uc001xhr.3	P11277		ENST00000389721.5:c.5148G>A	14.37:g.65239968C>T			Q15510|Q15519	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.P1716	ENST00000389721.5	37	c.5148	CCDS32100.1	14																																																																																			SPTB	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin	ENSG00000070182		0.542	SPTB-004	KNOWN	basic|CCDS	protein_coding	SPTB	HGNC	protein_coding	OTTHUMT00000414080.1	76	0.00	0	C			65239968	65239968	-1	no_errors	ENST00000389722	ensembl	human	known	69_37n	silent	62	13.89	10	SNP	0.384	T
UEVLD	55293	genome.wustl.edu	37	11	18566328	18566328	+	Missense_Mutation	SNP	T	T	C			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr11:18566328T>C	ENST00000541984.1	-	6	493	c.431A>G	c.(430-432)tAt>tGt	p.Y144C	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000379387.4_Missense_Mutation_p.Y279C|UEVLD_ENST00000535484.1_Missense_Mutation_p.Y263C|UEVLD_ENST00000320750.6_Missense_Mutation_p.Y279C|UEVLD_ENST00000396197.3_Missense_Mutation_p.Y301C|UEVLD_ENST00000543987.1_Missense_Mutation_p.Y301C	NM_001261386.1	NP_001248315.1			UEV and lactate/malate dehyrogenase domains											endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCATGTTACATAGGTCATGAT	0.289																																						dbGAP											0													87.0	80.0	82.0					11																	18566328		2199	4293	6492	-	-	-	SO:0001583	missense	0			AF503350	CCDS7843.1, CCDS41624.1, CCDS58122.1, CCDS58123.1, CCDS58124.1, CCDS58125.1, CCDS73266.1	11p15.1	2006-07-14			ENSG00000151116	ENSG00000151116			30866	protein-coding gene	gene with protein product		610985				12427560	Standard	NM_001040697		Approved	Attp, UEV3	uc001mot.4	Q8IX04	OTTHUMG00000167729	ENST00000541984.1:c.431A>G	11.37:g.18566328T>C	ENSP00000437538:p.Tyr144Cys			Missense_Mutation	SNP	pfam_UEV_N,pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Lactate_DH/Glyco_Ohase_4_C,prints_L-lactate/malate_DH	p.Y301C	ENST00000541984.1	37	c.902	CCDS58125.1	11	.	.	.	.	.	.	.	.	.	.	T	18.83	3.707706	0.68615	.	.	ENSG00000151116	ENST00000543987;ENST00000535484;ENST00000396197;ENST00000320750;ENST00000379387;ENST00000540110;ENST00000541984	D;D;D;D;D;T	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43;-1.36	5.74	5.74	0.90152	Lactate/malate dehydrogenase, N-terminal (1);NAD(P)-binding domain (1);	0.057709	0.64402	D	0.000001	D	0.95069	0.8403	M	0.89968	3.075	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.974;0.97;0.996	D	0.95684	0.8734	10	0.87932	D	0	-12.3932	12.2882	0.54803	0.1267:0.0:0.0:0.8733	.	279;279;301;301	B4DL43;Q8IX04-3;Q8IX04-2;Q8IX04	.;.;.;UEVLD_HUMAN	C	301;263;301;279;279;78;144	ENSP00000442974:Y301C;ENSP00000441092:Y263C;ENSP00000379500:Y301C;ENSP00000323353:Y279C;ENSP00000368697:Y279C;ENSP00000437538:Y144C	ENSP00000323353:Y279C	Y	-	2	0	UEVLD	18522904	1.000000	0.71417	0.764000	0.31436	0.996000	0.88848	4.775000	0.62346	2.197000	0.70478	0.528000	0.53228	TAT	UEVLD	-	pfam_Lactate/malate_DH_N,prints_L-lactate/malate_DH	ENSG00000151116		0.289	UEVLD-015	NOVEL	basic|exp_conf|CCDS	protein_coding	UEVLD	HGNC	protein_coding	OTTHUMT00000395928.1	96	0.00	0	T	NM_018314		18566328	18566328	-1	no_errors	ENST00000396197	ensembl	human	known	69_37n	missense	96	21.95	27	SNP	0.971	C
UGT8	7368	genome.wustl.edu	37	4	115586882	115586883	+	Frame_Shift_Del	DEL	AT	AT	-	rs559172034		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	AT	AT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr4:115586882_115586883delAT	ENST00000310836.6	+	4	1534_1535	c.1012_1013delAT	c.(1012-1014)atafs	p.I338fs	UGT8_ENST00000394511.3_Frame_Shift_Del_p.I338fs	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	338					axon cargo transport (GO:0008088)|central nervous system development (GO:0007417)|cytoskeleton organization (GO:0007010)|galactosylceramide biosynthetic process (GO:0006682)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to paranode region of axon (GO:0002175)	integral component of membrane (GO:0016021)	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity (GO:0003851)|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity (GO:0008489)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CACTAAACTCATAGAATGGTTA	0.322																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK127970	CCDS3705.1	4q26	2013-02-21	2008-07-31	2005-07-20	ENSG00000174607	ENSG00000174607	2.4.1.45	"""UDP glucuronosyltransferases"""	12555	protein-coding gene	gene with protein product	"""2-hydroxyacylsphingosine 1-beta-galactosyltransferase"""	601291	"""UDP-galactose ceramide galactosyltransferase"""	CGT		8661025	Standard	NM_003360		Approved		uc003ibs.2	Q16880	OTTHUMG00000132915	ENST00000310836.6:c.1012_1013delAT	4.37:g.115586882_115586883delAT	ENSP00000311648:p.Ile338fs		B3KXU7|O00196	Frame_Shift_Del	DEL	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.I338fs	ENST00000310836.6	37	c.1012_1013	CCDS3705.1	4																																																																																			UGT8	-	pfam_UDP_glucos_trans	ENSG00000174607		0.322	UGT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT8	HGNC	protein_coding	OTTHUMT00000256426.2	167	0.00	0	AT	NM_003360		115586882	115586883	+1	no_errors	ENST00000310836	ensembl	human	known	69_37n	frame_shift_del	117	23.23	36	DEL	0.998:1.000	-
USP34	9736	genome.wustl.edu	37	2	61416190	61416190	+	Silent	SNP	G	G	C	rs564470263		TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr2:61416190G>C	ENST00000398571.2	-	79	9964	c.9888C>G	c.(9886-9888)ctC>ctG	p.L3296L	AHSA2_ENST00000394457.3_3'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3296					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GGAGCAAAGCGAGTGCCCTCA	0.408																																						dbGAP											0													110.0	101.0	104.0					2																	61416190		1851	4091	5942	-	-	-	SO:0001819	synonymous_variant	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.9888C>G	2.37:g.61416190G>C			A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R973G	ENST00000398571.2	37	c.2917	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	.	1.989	-0.432268	0.04669	.	.	ENSG00000115464	ENST00000411912	.	.	.	5.64	0.359	0.16088	.	.	.	.	.	T	0.42108	0.1188	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.23190	-1.0195	4	.	.	.	.	1.5962	0.02664	0.4789:0.1324:0.261:0.1277	.	.	.	.	G	973	.	.	R	-	1	0	USP34	61269694	0.998000	0.40836	0.999000	0.59377	0.985000	0.73830	0.742000	0.26216	0.037000	0.15575	-0.397000	0.06425	CGC	USP34	-	superfamily_ARM-type_fold	ENSG00000115464		0.408	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	151	0.00	0	G			61416190	61416190	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000411912	ensembl	human	novel	69_37n	missense	115	22.82	34	SNP	0.998	C
YJEFN3	374887	genome.wustl.edu	37	19	19645891	19645891	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr19:19645891G>A	ENST00000514277.4	+	4	405	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	YJEFN3_ENST00000436027.5_Missense_Mutation_p.V73M|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.V122M|YJEFN3_ENST00000608404.1_Missense_Mutation_p.V122M	NM_198537.3	NP_940939.2	A6XGL0	YJEN3_HUMAN	YjeF N-terminal domain containing 3	123	YjeF N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00719}.									NS(1)|breast(1)|lung(3)	5						GGTGCTGGTCGTGTGTGGCCC	0.637																																						dbGAP											0													86.0	105.0	99.0					19																	19645891		2121	4225	6346	-	-	-	SO:0001583	missense	0				CCDS42530.1, CCDS54236.1	19p13.11	2014-09-11			ENSG00000250067	ENSG00000250067			24785	protein-coding gene	gene with protein product						17533573	Standard	NM_198537		Approved	hYjeF_N3-19p13.11, FLJ44968	uc002nmt.2	A6XGL0	OTTHUMG00000162251	ENST00000514277.4:c.367G>A	19.37:g.19645891G>A	ENSP00000426964:p.Val123Met		A6XGK9|Q4G1C0	Missense_Mutation	SNP	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	p.V123M	ENST00000514277.4	37	c.367	CCDS42530.1	19	.	.	.	.	.	.	.	.	.	.	G	18.37	3.608443	0.66558	.	.	ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000250067;ENSG00000258674	ENST00000553705;ENST00000397179;ENST00000436027;ENST00000514277;ENST00000510139;ENST00000555938	T;T;T	0.45276	0.9;0.9;0.9	4.53	4.53	0.55603	YjeF-related protein, N-terminal (5);	0.132780	0.51477	D	0.000089	T	0.63367	0.2505	M	0.84219	2.685	0.41435	D	0.987884	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.77557	0.99;0.935;0.979	T	0.68262	-0.5455	10	0.87932	D	0	-3.8201	8.9373	0.35708	0.1042:0.0:0.8958:0.0	.	122;73;123	E7ENQ6;A6XGL0-2;A6XGL0	.;.;YJEN3_HUMAN	M	122;123;73;123;73;122	ENSP00000398520:V73M;ENSP00000426964:V123M;ENSP00000452549:V122M	ENSP00000389732:V122M	V	+	1	0	YJEFN3;CTC-260F20.3	19506891	0.998000	0.40836	0.863000	0.33907	0.561000	0.35649	3.040000	0.49799	2.263000	0.75096	0.650000	0.86243	GTG	YJEFN3	-	pfam_YjeF_N,superfamily_YjeF_N,tigrfam_YjeF_N	ENSG00000250067		0.637	YJEFN3-001	KNOWN	basic|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000368157.5	59	0.00	0	G	NM_198537		19645891	19645891	+1	no_errors	ENST00000514277	ensembl	human	known	69_37n	missense	46	20.69	12	SNP	0.962	A
VSIG10L	147645	genome.wustl.edu	37	19	51837454	51837454	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr19:51837454G>A	ENST00000335624.4	-	8	2409	c.2410C>T	c.(2410-2412)Cgc>Tgc	p.R804C		NM_001163922.1	NP_001157394.1	Q86VR7	VS10L_HUMAN	V-set and immunoglobulin domain containing 10 like	804						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)	4						CCACGAAAGCGGCACAGGCAG	0.622																																						dbGAP											0													38.0	50.0	46.0					19																	51837454		692	1591	2283	-	-	-	SO:0001583	missense	0				CCDS54300.1	19q13.41	2013-01-11				ENSG00000186806		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27111	protein-coding gene	gene with protein product						12477932	Standard	NM_001163922		Approved		uc002pwf.3	Q86VR7		ENST00000335624.4:c.2410C>T	19.37:g.51837454G>A	ENSP00000335623:p.Arg804Cys			Missense_Mutation	SNP	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R804C	ENST00000335624.4	37	c.2410	CCDS54300.1	19	.	.	.	.	.	.	.	.	.	.	G	16.49	3.138608	0.56936	.	.	ENSG00000186806	ENST00000335624	T	0.28454	1.61	5.36	3.22	0.36961	.	0.127621	0.35838	N	0.002950	T	0.41488	0.1161	M	0.81682	2.555	0.09310	N	1	D	0.69078	0.997	P	0.50754	0.649	T	0.38824	-0.9643	10	0.87932	D	0	-7.7259	6.6224	0.22810	0.0917:0.0:0.7201:0.1882	.	804	Q86VR7	VS10L_HUMAN	C	804	ENSP00000335623:R804C	ENSP00000335623:R804C	R	-	1	0	VSIG10L	56529266	0.349000	0.24870	0.010000	0.14722	0.890000	0.51754	1.075000	0.30716	0.616000	0.30141	0.467000	0.42956	CGC	VSIG10L	-	NULL	ENSG00000186806		0.622	VSIG10L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	VSIG10L	HGNC	protein_coding	OTTHUMT00000464535.1	40	0.00	0	G	NM_001163922		51837454	51837454	-1	no_errors	ENST00000335624	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	0.026	A
ZFP37	7539	genome.wustl.edu	37	9	115806351	115806351	+	Missense_Mutation	SNP	T	T	A			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr9:115806351T>A	ENST00000374227.3	-	4	574	c.547A>T	c.(547-549)Att>Ttt	p.I183F	ZFP37_ENST00000555206.1_Missense_Mutation_p.I184F|ZFP37_ENST00000553380.1_Missense_Mutation_p.I198F	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						TGTTTCAAAATTTTTCCACAT	0.333																																						dbGAP											0													91.0	94.0	93.0					9																	115806351		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF022158	CCDS6787.1, CCDS65109.1, CCDS65110.1	9q32	2013-01-08	2012-11-27		ENSG00000136866	ENSG00000136866		"""Zinc fingers, C2H2-type"", ""-"""	12863	protein-coding gene	gene with protein product		602951	"""zinc finger protein homologous to Zfp37 in mouse"", ""zinc finger protein 37 homolog (mouse)"""				Standard	NM_001282515		Approved	ZNF906	uc004bgm.1	Q9Y6Q3	OTTHUMG00000021019	ENST00000374227.3:c.547A>T	9.37:g.115806351T>A	ENSP00000363344:p.Ile183Phe		A0AVJ9|B4DVX4|G3V3L7|Q5T7Q4	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.I198F	ENST00000374227.3	37	c.592	CCDS6787.1	9	.	.	.	.	.	.	.	.	.	.	T	1.879	-0.458388	0.04508	.	.	ENSG00000136866	ENST00000374227;ENST00000555206;ENST00000553380	T;T;T	0.05513	3.48;3.43;3.51	4.43	2.08	0.27032	.	0.675777	0.13136	N	0.411028	T	0.04497	0.0123	L	0.27053	0.805	0.09310	N	0.999999	B;B;B	0.14438	0.01;0.01;0.01	B;B;B	0.21360	0.024;0.024;0.034	T	0.43294	-0.9400	10	0.29301	T	0.29	-6.0471	4.5104	0.11908	0.0:0.1008:0.1988:0.7003	.	184;198;183	G3V3L7;Q9Y6Q3-2;Q9Y6Q3	.;.;ZFP37_HUMAN	F	183;184;198	ENSP00000363344:I183F;ENSP00000451310:I184F;ENSP00000452552:I198F	ENSP00000363344:I183F	I	-	1	0	ZFP37	114846172	0.541000	0.26417	0.062000	0.19696	0.096000	0.18686	1.547000	0.36190	0.466000	0.27193	0.533000	0.62120	ATT	ZFP37	-	NULL	ENSG00000136866		0.333	ZFP37-001	KNOWN	basic|CCDS	protein_coding	ZFP37	HGNC	protein_coding	OTTHUMT00000055439.1	120	0.00	0	T	NM_003408		115806351	115806351	-1	no_errors	ENST00000553380	ensembl	human	known	69_37n	missense	98	24.03	31	SNP	0.267	A
ZNF10	7556	genome.wustl.edu	37	12	133733005	133733005	+	Missense_Mutation	SNP	T	T	G			TCGA-D8-A1XY-01A-11D-A14K-09	TCGA-D8-A1XY-10A-01D-A14K-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	edb6d161-8f50-4c11-8246-487c4ea9a55d	8dea96d9-5017-4872-a84e-33bfd2f37b7a	g.chr12:133733005T>G	ENST00000248211.6	+	5	1395	c.1173T>G	c.(1171-1173)caT>caG	p.H391Q	ZNF10_ENST00000426665.2_Missense_Mutation_p.H391Q|ZNF10_ENST00000402932.2_Missense_Mutation_p.H257Q|CTD-2140B24.4_ENST00000540096.2_Intron|ZNF268_ENST00000416488.1_Intron	NM_015394.4	NP_056209.2	P21506	ZNF10_HUMAN	zinc finger protein 10	391					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)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		AGAGCACACATCTCATTCTGC	0.438																																						dbGAP											0													163.0	164.0	164.0					12																	133733005		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52332, BC024182	CCDS9283.1	12q24.33	2013-01-08	2005-05-22		ENSG00000256223	ENSG00000256223		"""Zinc fingers, C2H2-type"", ""-"""	12879	protein-coding gene	gene with protein product		194538	"""zinc finger protein 10 (KOX 1)"""			7865130, 8262519	Standard	NM_015394		Approved	KOX1	uc001ulq.3	P21506	OTTHUMG00000167944	ENST00000248211.6:c.1173T>G	12.37:g.133733005T>G	ENSP00000248211:p.His391Gln		B2RBS1|Q8TC91	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.H391Q	ENST00000248211.6	37	c.1173	CCDS9283.1	12	.	.	.	.	.	.	.	.	.	.	T	5.553	0.286931	0.10513	.	.	ENSG00000256223	ENST00000248211;ENST00000426665;ENST00000402932	T;T;T	0.15256	2.44;2.44;2.44	3.73	2.64	0.31445	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	1.203370	0.06234	N	0.689271	T	0.09468	0.0233	N	0.16266	0.395	0.50313	D	0.999869	B	0.22541	0.071	B	0.12156	0.007	T	0.32402	-0.9908	9	.	.	.	.	2.4698	0.04561	0.2324:0.204:0.0:0.5636	.	391	P21506	ZNF10_HUMAN	Q	391;391;257	ENSP00000248211:H391Q;ENSP00000393814:H391Q;ENSP00000384893:H257Q	.	H	+	3	2	ZNF10	132243078	0.000000	0.05858	1.000000	0.80357	0.994000	0.84299	-2.429000	0.01025	0.636000	0.30508	0.533000	0.62120	CAT	ZNF10	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000256223		0.438	ZNF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF10	HGNC	protein_coding	OTTHUMT00000397182.1	42	0.00	0	T	NM_015394		133733005	133733005	+1	no_errors	ENST00000248211	ensembl	human	known	69_37n	missense	43	16.98	9	SNP	0.400	G
