#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
AMY2B	280	genome.wustl.edu	37	1	104113465	104113465	+	Intron	SNP	C	C	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr1:104113465C>A	ENST00000361355.4	+	3	570				AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)						carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATTGTAGAACTTGTTCCTGA	0.368																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.-46-714C>A	1.37:g.104113465C>A			B3KTI1|B3KXB7|D3DT76|Q9UBH3	RNA	SNP	-	NULL	ENST00000361355.4	37	NULL	CCDS782.1	1																																																																																			AMY2B	-	-	ENSG00000240038		0.368	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	13	0.00	0	C	NM_020978		104113465	104113465	+1	no_errors	ENST00000491397	ensembl	human	known	69_37n	rna	6	40.00	4	SNP	0.982	A
ANO3	63982	genome.wustl.edu	37	11	26621259	26621259	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr11:26621259C>T	ENST00000256737.3	+	17	2686	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	ANO3_ENST00000537978.1_Missense_Mutation_p.L596F|ANO3_ENST00000531568.1_Missense_Mutation_p.L466F|ANO3_ENST00000525139.1_Missense_Mutation_p.L596F	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	612					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTTGCTGAATCTTGTAAGTGT	0.358																																						dbGAP											0													129.0	117.0	121.0					11																	26621259		2203	4299	6502	-	-	-	SO:0001583	missense	0			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.1834C>T	11.37:g.26621259C>T	ENSP00000256737:p.Leu612Phe		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.L612F	ENST00000256737.3	37	c.1834	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	C	13.99	2.400575	0.42613	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	5.88	2.9	0.33743	.	0.170330	0.51477	D	0.000095	T	0.44603	0.1301	N	0.04508	-0.205	0.39987	D	0.974998	B;B	0.33777	0.254;0.425	B;P	0.44477	0.356;0.451	T	0.29822	-0.9999	10	0.10111	T	0.7	.	13.2474	0.60029	0.0964:0.2374:0.6663:0.0	.	514;612	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	F	596;596;612;514;466	ENSP00000440737:L596F;ENSP00000432576:L596F;ENSP00000256737:L612F;ENSP00000432394:L466F	ENSP00000256737:L612F	L	+	1	0	ANO3	26577835	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	3.689000	0.54706	0.807000	0.34208	0.655000	0.94253	CTT	ANO3	-	pfam_Anoctamin	ENSG00000134343		0.358	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	55	0.00	0	C	NM_031418		26621259	26621259	+1	no_errors	ENST00000256737	ensembl	human	known	69_37n	missense	33	34.00	17	SNP	1.000	T
ARFGAP1	55738	genome.wustl.edu	37	20	61907998	61907998	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr20:61907998G>T	ENST00000370283.4	+	4	477	c.337G>T	c.(337-339)Gat>Tat	p.D113Y	ARFGAP1_ENST00000547204.1_Missense_Mutation_p.D39Y|ARFGAP1_ENST00000519604.1_Missense_Mutation_p.D60Y|ARFGAP1_ENST00000519273.2_Silent_p.G33G|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.D113Y|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.D113Y	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	113	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					CCTCTTTAGGGATAAGGTAGA	0.562																																						dbGAP											0													45.0	42.0	43.0					20																	61907998		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.337G>T	20.37:g.61907998G>T	ENSP00000359306:p.Asp113Tyr		B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.D113Y	ENST00000370283.4	37	c.337	CCDS13515.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	4.001499	0.74818	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403;ENST00000550188	T;T;T;T;T;T;T;T;T	0.63417	0.91;0.12;0.22;0.91;0.91;-0.04;0.91;0.91;0.91	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	D	0.85605	0.5735	H	0.95079	3.62	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;0.999;0.998	D	0.90442	0.4432	10	0.87932	D	0	-21.7793	18.117	0.89559	0.0:0.0:1.0:0.0	.	60;113;113;113	E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;ARFG1_HUMAN;.	Y	113;39;39;60;113;39;113;113;113	ENSP00000359306:D113Y;ENSP00000449800:D39Y;ENSP00000447037:D39Y;ENSP00000430500:D60Y;ENSP00000359298:D113Y;ENSP00000429674:D39Y;ENSP00000314615:D113Y;ENSP00000430929:D113Y;ENSP00000449515:D113Y	ENSP00000314615:D113Y	D	+	1	0	ARFGAP1	61378443	1.000000	0.71417	1.000000	0.80357	0.627000	0.37826	9.260000	0.95568	2.345000	0.79718	0.563000	0.77884	GAT	ARFGAP1	-	pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP	ENSG00000101199		0.562	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP1	HGNC	protein_coding	OTTHUMT00000080134.3	37	0.00	0	G	NM_018209		61907998	61907998	+1	no_errors	ENST00000353546	ensembl	human	known	69_37n	missense	31	11.43	4	SNP	1.000	T
CDCP2	200008	genome.wustl.edu	37	1	54598912	54598912	+	5'UTR	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr1:54598912G>A	ENST00000530059.1	-	0	331							Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2							extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CTCCCGCCCCGCGGCTGAGAA	0.587																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000530059.1:c.-166C>T	1.37:g.54598912G>A			Q6ZWJ3	RNA	SNP	-	NULL	ENST00000530059.1	37	NULL		1																																																																																			CDCP2	-	-	ENSG00000157211		0.587	CDCP2-003	PUTATIVE	basic|exp_conf	processed_transcript	CDCP2	HGNC	protein_coding	OTTHUMT00000394342.1	29	0.00	0	G	NM_201546		54598912	54598912	-1	no_errors	ENST00000530059	ensembl	human	putative	69_37n	rna	39	26.42	14	SNP	0.004	A
CD101	9398	genome.wustl.edu	37	1	117576699	117576699	+	Silent	SNP	C	C	T	rs201188703		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr1:117576699C>T	ENST00000256652.4	+	9	3100	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	RP11-27K13.3_ENST00000421254.1_RNA|RP11-27K13.3_ENST00000445523.1_RNA|CD101_ENST00000369470.1_Silent_p.D1014D|CD101_ENST00000467588.1_3'UTR	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	1014					cell surface receptor signaling pathway (GO:0007166)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGAGGGAAGACGAGGAGGAAG	0.512																																						dbGAP											0													76.0	71.0	73.0					1																	117576699		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z33642	CCDS891.1	1p13	2013-01-29	2009-10-27	2009-10-27	ENSG00000134256	ENSG00000134256		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5949	protein-coding gene	gene with protein product		604516	"""immunoglobulin superfamily, member 2"""	IGSF2		7722300	Standard	NM_004258		Approved	V7	uc010oxb.2	Q93033	OTTHUMG00000012029	ENST00000256652.4:c.3042C>T	1.37:g.117576699C>T			Q15856	Silent	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.D1014	ENST00000256652.4	37	c.3042	CCDS891.1	1																																																																																			CD101	-	NULL	ENSG00000134256		0.512	CD101-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CD101	HGNC	protein_coding	OTTHUMT00000033274.1	27	0.00	0	C	NM_004258		117576699	117576699	+1	no_errors	ENST00000256652	ensembl	human	known	69_37n	silent	15	37.50	9	SNP	0.000	T
CDH1	999	genome.wustl.edu	37	16	68772218	68772218	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr16:68772218C>T	ENST00000261769.5	+	2	258	c.67C>T	c.(67-69)Cag>Tag	p.Q23*	CDH1_ENST00000422392.2_Nonsense_Mutation_p.Q23*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	23					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.V17fs*1(3)|p.?(2)|p.W20fs*7(1)|p.Q23*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTGGCTCTGCCAGGAGCCGGA	0.677			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	7	Deletion - Frameshift(4)|Unknown(2)|Substitution - Nonsense(1)	breast(7)											14.0	17.0	16.0					16																	68772218		1763	3312	5075	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.67C>T	16.37:g.68772218C>T	ENSP00000261769:p.Gln23*		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q23*	ENST00000261769.5	37	c.67	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	21.6	4.175447	0.78564	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	4.76	1.47	0.22746	.	0.000000	0.34652	N	0.003783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	13.0323	0.58848	0.0:0.551:0.449:0.0	.	.	.	.	X	23	.	ENSP00000261769:Q23X	Q	+	1	0	CDH1	67329719	0.998000	0.40836	0.961000	0.40146	0.242000	0.25591	0.719000	0.25881	0.574000	0.29417	0.563000	0.77884	CAG	CDH1	-	superfamily_Cadherin-like	ENSG00000039068		0.677	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	73	0.00	0	C	NM_004360		68772218	68772218	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	26	61.19	41	SNP	0.982	T
COL7A1	1294	genome.wustl.edu	37	3	48625810	48625810	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:48625810G>A	ENST00000328333.8	-	20	2722	c.2615C>T	c.(2614-2616)aCg>aTg	p.T872M	COL7A1_ENST00000454817.1_Missense_Mutation_p.T872M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	872	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Nonhelical region (NC1).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACGTGAAGCGTCCCCAGGGC	0.692																																						dbGAP											0													17.0	20.0	19.0					3																	48625810		2201	4299	6500	-	-	-	SO:0001583	missense	0			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.2615C>T	3.37:g.48625810G>A	ENSP00000332371:p.Thr872Met		Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.T872M	ENST00000328333.8	37	c.2615	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	G	15.26	2.780592	0.49891	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.57436	0.4;0.4	4.67	4.67	0.58626	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.154765	0.30118	N	0.010368	T	0.61540	0.2355	L	0.43152	1.355	0.31296	N	0.688851	D	0.65815	0.995	P	0.57846	0.828	T	0.66392	-0.5935	10	0.62326	D	0.03	.	17.0296	0.86457	0.0:0.0:1.0:0.0	.	872	Q02388	CO7A1_HUMAN	M	872	ENSP00000332371:T872M;ENSP00000412569:T872M	ENSP00000332371:T872M	T	-	2	0	COL7A1	48600814	0.028000	0.19301	0.620000	0.29132	0.668000	0.39293	0.049000	0.14099	2.508000	0.84585	0.655000	0.94253	ACG	COL7A1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000114270		0.692	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	18	0.00	0	G	NM_000094		48625810	48625810	-1	no_errors	ENST00000328333	ensembl	human	known	69_37n	missense	16	33.33	8	SNP	0.856	A
CROCC	9696	genome.wustl.edu	37	1	17273313	17273313	+	Missense_Mutation	SNP	A	A	G			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr1:17273313A>G	ENST00000375541.5	+	17	2410	c.2341A>G	c.(2341-2343)Aca>Gca	p.T781A	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3			ciliary rootlet coiled-coil, rootletin											breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCAGGAGGCCACAGTGGCGCG	0.701																																						dbGAP											0													16.0	16.0	16.0					1																	17273313		2107	4123	6230	-	-	-	SO:0001583	missense	0			AB007914	CCDS30616.1	1p36.13	2010-06-04	2009-03-04	2009-03-04	ENSG00000058453	ENSG00000058453			21299	protein-coding gene	gene with protein product	"""rootletin, ciliary rootlet protein"""	615776				12427867, 17971504	Standard	XM_006711056		Approved	rootletin, ROLT	uc001azt.2	Q5TZA2	OTTHUMG00000002200	ENST00000375541.5:c.2341A>G	1.37:g.17273313A>G	ENSP00000364691:p.Thr781Ala			Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_t-SNARE	p.T781A	ENST00000375541.5	37	c.2341	CCDS30616.1	1	.	.	.	.	.	.	.	.	.	.	A	3.161	-0.172101	0.06421	.	.	ENSG00000058453	ENST00000375541;ENST00000445545	T	0.08282	3.11	3.5	-6.99	0.01605	.	.	.	.	.	T	0.01592	0.0051	N	0.00778	-1.195	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.39683	-0.9602	9	0.06236	T	0.91	.	4.9316	0.13919	0.3311:0.0:0.4342:0.2346	.	644;84;781	A1L0S8;Q5TZA2-2;Q5TZA2	.;.;CROCC_HUMAN	A	781;662	ENSP00000364691:T781A	ENSP00000364691:T781A	T	+	1	0	CROCC	17145900	0.000000	0.05858	0.017000	0.16124	0.618000	0.37518	-0.969000	0.03813	-1.546000	0.01717	0.379000	0.24179	ACA	CROCC	-	NULL	ENSG00000058453		0.701	CROCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CROCC	HGNC	protein_coding	OTTHUMT00000006249.2	58	0.00	0	A	NM_014675		17273313	17273313	+1	no_errors	ENST00000375541	ensembl	human	known	69_37n	missense	63	20.00	16	SNP	0.013	G
CTNNA2	1496	genome.wustl.edu	37	2	80101233	80101233	+	Missense_Mutation	SNP	T	T	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr2:80101233T>A	ENST00000402739.4	+	5	622	c.617T>A	c.(616-618)aTg>aAg	p.M206K	CTNNA2_ENST00000496558.1_Missense_Mutation_p.M206K|CTNNA2_ENST00000361291.4_Missense_Mutation_p.M240K|CTNNA2_ENST00000541047.1_Missense_Mutation_p.M206K|CTNNA2_ENST00000540488.1_Missense_Mutation_p.M206K|CTNNA2_ENST00000466387.1_Missense_Mutation_p.M206K	NM_001282597.1	NP_001269526.1	P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	206					axonogenesis (GO:0007409)|brain morphogenesis (GO:0048854)|dendrite morphogenesis (GO:0048813)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|prepulse inhibition (GO:0060134)|radial glia guided migration of Purkinje cell (GO:0021942)|regulation of synapse structural plasticity (GO:0051823)|single organismal cell-cell adhesion (GO:0016337)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)	structural constituent of cytoskeleton (GO:0005200)			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						CGGGATGAGATGGCAGCCGCC	0.512																																						dbGAP											0													42.0	45.0	44.0					2																	80101233		2013	4188	6201	-	-	-	SO:0001583	missense	0				CCDS42703.2, CCDS62944.1, CCDS62945.1, CCDS74531.1	2p12-p11.1	2010-05-04			ENSG00000066032	ENSG00000066032			2510	protein-coding gene	gene with protein product	"""cadherin-associated protein, related"", ""cancer/testis antigen 114"""	114025				8432524	Standard	NM_004389		Approved	CAP-R, CT114	uc010ysf.2	P26232	OTTHUMG00000152903	ENST00000402739.4:c.617T>A	2.37:g.80101233T>A	ENSP00000384638:p.Met206Lys		B3KXE5|B7Z2W7|B7Z352|B7Z898|Q4ZFW1|Q53R26|Q53R33|Q53T67|Q53T71|Q53TM8|Q7Z3L1|Q7Z3Y0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.M240K	ENST00000402739.4	37	c.719		2	.	.	.	.	.	.	.	.	.	.	T	21.2	4.112559	0.77210	.	.	ENSG00000066032	ENST00000466387;ENST00000496558;ENST00000361291;ENST00000402739;ENST00000541047;ENST00000540488	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.84585	2.705	0.80722	D	1	D;P;P	0.53745	0.962;0.922;0.953	P;B;P	0.49561	0.615;0.364;0.466	T	0.71527	-0.4566	10	0.87932	D	0	.	15.9651	0.79966	0.0:0.0:0.0:1.0	.	206;206;206	P26232;P26232-3;P26232-2	CTNA2_HUMAN;.;.	K	206;206;240;206;206;206	ENSP00000418191:M206K;ENSP00000419295:M206K;ENSP00000355398:M240K;ENSP00000384638:M206K;ENSP00000444675:M206K;ENSP00000441705:M206K	ENSP00000355398:M240K	M	+	2	0	CTNNA2	79954741	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	8.040000	0.89188	2.175000	0.68902	0.528000	0.53228	ATG	CTNNA2	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000066032		0.512	CTNNA2-003	PUTATIVE	basic|exp_conf	protein_coding	CTNNA2	HGNC	protein_coding	OTTHUMT00000328511.4	22	0.00	0	T	NM_004389		80101233	80101233	+1	no_errors	ENST00000361291	ensembl	human	known	69_37n	missense	5	61.54	8	SNP	1.000	A
EFCAB12	90288	genome.wustl.edu	37	3	129130137	129130137	+	Missense_Mutation	SNP	T	T	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:129130137T>A	ENST00000505956.1	-	5	1061	c.899A>T	c.(898-900)gAt>gTt	p.D300V	EFCAB12_ENST00000326085.3_Missense_Mutation_p.D300V	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	300							calcium ion binding (GO:0005509)										TGGGGCTGAATCCACCTCCTG	0.562																																						dbGAP											0													59.0	62.0	61.0					3																	129130137		2072	4199	6271	-	-	-	SO:0001583	missense	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.899A>T	3.37:g.129130137T>A	ENSP00000420854:p.Asp300Val		Q69YX4	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.D300V	ENST00000505956.1	37	c.899	CCDS54638.1	3	.	.	.	.	.	.	.	.	.	.	T	10.37	1.332546	0.24167	.	.	ENSG00000172771	ENST00000505956;ENST00000326085;ENST00000503957	T;T;T	0.33438	4.07;4.07;1.41	3.72	-3.88	0.04205	.	1.877040	0.03368	N	0.198513	T	0.13586	0.0329	N	0.08118	0	0.09310	N	1	B	0.19200	0.034	B	0.13407	0.009	T	0.18903	-1.0322	10	0.56958	D	0.05	-0.2505	1.1721	0.01827	0.1678:0.2849:0.3399:0.2073	.	300	Q6NXP0	CC025_HUMAN	V	300;300;150	ENSP00000420854:D300V;ENSP00000324241:D300V;ENSP00000421462:D150V	ENSP00000324241:D300V	D	-	2	0	C3orf25	130612827	0.000000	0.05858	0.000000	0.03702	0.016000	0.09150	-2.196000	0.01241	-0.458000	0.07023	0.379000	0.24179	GAT	EFCAB12	-	NULL	ENSG00000172771		0.562	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1	62	0.00	0	T	NM_207307		129130137	129130137	-1	no_errors	ENST00000326085	ensembl	human	known	69_37n	missense	45	30.77	20	SNP	0.000	A
FAM73A	374986	genome.wustl.edu	37	1	78309071	78309071	+	Silent	SNP	T	T	C			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr1:78309071T>C	ENST00000370791.3	+	8	1007	c.975T>C	c.(973-975)gaT>gaC	p.D325D	FAM73A_ENST00000443751.2_Silent_p.D287D	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	325						integral component of membrane (GO:0016021)				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATCCACGGATTCCTTTGCTT	0.403																																						dbGAP											0													121.0	116.0	118.0					1																	78309071		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS681.1, CCDS72809.1	1p31.1	2008-02-05			ENSG00000180488	ENSG00000180488			24741	protein-coding gene	gene with protein product							Standard	NM_001270384		Approved	FLJ35093	uc010ork.3	Q8NAN2	OTTHUMG00000009766	ENST00000370791.3:c.975T>C	1.37:g.78309071T>C			Q6MZG0	Silent	SNP	pfam_DUF2217	p.D325	ENST00000370791.3	37	c.975	CCDS681.1	1																																																																																			FAM73A	-	pfam_DUF2217	ENSG00000180488		0.403	FAM73A-001	KNOWN	basic|CCDS	protein_coding	FAM73A	HGNC	protein_coding	OTTHUMT00000026931.1	79	0.00	0	T	NM_198549		78309071	78309071	+1	no_errors	ENST00000370791	ensembl	human	known	69_37n	silent	38	37.70	23	SNP	0.996	C
GPNMB	10457	genome.wustl.edu	37	7	23306203	23306203	+	Silent	SNP	T	T	C			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr7:23306203T>C	ENST00000381990.2	+	7	1283	c.1122T>C	c.(1120-1122)taT>taC	p.Y374Y	GPNMB_ENST00000258733.4_Silent_p.Y362Y|GPNMB_ENST00000539136.1_Silent_p.Y263Y|GPNMB_ENST00000453162.2_Silent_p.Y316Y	NM_001005340.1|NM_002510.2	NP_001005340.1|NP_002501.1	Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	374					bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|negative regulation of cell proliferation (GO:0008285)|osteoblast differentiation (GO:0001649)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TTAACAGATATGGCCACTTTC	0.483																																						dbGAP											0													83.0	73.0	76.0					7																	23306203		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X76534	CCDS5380.1, CCDS34610.1	7p	2008-07-18			ENSG00000136235	ENSG00000136235			4462	protein-coding gene	gene with protein product	"""transmembrane glycoprotein"", ""glycoprotein NMB"", ""glycoprotein nmb-like protein"", ""osteoactivin"""	604368				7814155	Standard	NM_002510		Approved	NMB, HGFIN	uc003swc.3	Q14956	OTTHUMG00000022811	ENST00000381990.2:c.1122T>C	7.37:g.23306203T>C			A4D155|Q6UVX1|Q8N1A1	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.Y374	ENST00000381990.2	37	c.1122	CCDS34610.1	7																																																																																			GPNMB	-	smart_PKD/Chitinase_dom	ENSG00000136235		0.483	GPNMB-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPNMB	HGNC	protein_coding	OTTHUMT00000327152.1	51	0.00	0	T	NM_001005340		23306203	23306203	+1	no_errors	ENST00000381990	ensembl	human	known	69_37n	silent	31	36.73	18	SNP	0.894	C
HBS1L	10767	genome.wustl.edu	37	6	135299856	135299856	+	Silent	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr6:135299856G>A	ENST00000367837.5	-	15	1964	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L	HBS1L_ENST00000367826.2_Silent_p.L544L|HBS1L_ENST00000445176.2_Silent_p.L310L|HBS1L_ENST00000527578.1_Silent_p.L422L|HBS1L_ENST00000415177.2_Silent_p.L521L|HBS1L_ENST00000367824.4_Silent_p.L422L	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like translational GTPase	586					signal transduction (GO:0007165)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		TATTAAAGATGAGGATTCGGG	0.333																																						dbGAP											0													95.0	104.0	101.0					6																	135299856		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U87791	CCDS5173.1, CCDS47479.1, CCDS47480.1	6q23.3	2014-04-30	2014-04-30		ENSG00000112339	ENSG00000112339			4834	protein-coding gene	gene with protein product	"""eRF3 family member"""	612450	"""HBS1 (S. cerevisiae)-like"", ""HBS1-like (S. cerevisiae)"""			9872408, 23667253	Standard	NM_006620		Approved	ERFS, HBS1, HSPC276, KIAA1038, DKFZp434g247, EF-1a, eRF3c	uc003qez.2	Q9Y450	OTTHUMG00000015626	ENST00000367837.5:c.1758C>T	6.37:g.135299856G>A			B7Z365|Q4VX89|Q4VX90|Q5T7G3|Q8NDW9|Q9UPW3	Silent	SNP	pfam_DUF1916,pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd	p.L586	ENST00000367837.5	37	c.1758	CCDS5173.1	6																																																																																			HBS1L	-	pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C	ENSG00000112339		0.333	HBS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HBS1L	HGNC	protein_coding	OTTHUMT00000042339.2	38	0.00	0	G			135299856	135299856	-1	no_errors	ENST00000367837	ensembl	human	known	69_37n	silent	29	12.12	4	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91498016	91498016	+	Nonsense_Mutation	SNP	C	C	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr10:91498016C>T	ENST00000371728.3	+	20	3483	c.3418C>T	c.(3418-3420)Cag>Tag	p.Q1140*	KIF20B_ENST00000394289.2_Nonsense_Mutation_p.Q1140*|KIF20B_ENST00000260753.4_Nonsense_Mutation_p.Q1100*|KIF20B_ENST00000416354.1_Nonsense_Mutation_p.Q1170*|KIF20B_ENST00000478929.1_3'UTR	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1140					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGTTCAAATACAGCATGTAGT	0.333																																						dbGAP											0													71.0	80.0	77.0					10																	91498016		2203	4297	6500	-	-	-	SO:0001587	stop_gained	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3418C>T	10.37:g.91498016C>T	ENSP00000360793:p.Gln1140*		A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Q1170*	ENST00000371728.3	37	c.3508		10	.	.	.	.	.	.	.	.	.	.	C	37	6.292350	0.97449	.	.	ENSG00000138182	ENST00000260753;ENST00000416354;ENST00000394289;ENST00000371728	.	.	.	5.87	5.87	0.94306	.	0.000000	0.48767	D	0.000168	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-10.0996	8.6361	0.33948	0.2634:0.6659:0.0:0.0707	.	.	.	.	X	1100;1170;1140;1140	.	ENSP00000260753:Q1100X	Q	+	1	0	KIF20B	91487996	0.848000	0.29623	0.951000	0.38953	0.186000	0.23388	2.390000	0.44416	2.779000	0.95612	0.591000	0.81541	CAG	KIF20B	-	NULL	ENSG00000138182		0.333	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	36	0.00	0	C	NM_016195		91498016	91498016	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	nonsense	14	50.00	14	SNP	0.208	T
KIF2B	84643	genome.wustl.edu	37	17	51900667	51900667	+	Silent	SNP	G	G	A	rs372558151		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr17:51900667G>A	ENST00000268919.4	+	1	429	c.273G>A	c.(271-273)ccG>ccA	p.P91P		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	91					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCCCATGCCGCCCCCGCCCT	0.567																																						dbGAP											0													116.0	125.0	122.0					17																	51900667		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF333335	CCDS32685.1	17q22	2014-08-12			ENSG00000141200	ENSG00000141200		"""Kinesins"""	29443	protein-coding gene	gene with protein product		615142				11416179	Standard	NM_032559		Approved		uc002iua.2	Q8N4N8	OTTHUMG00000177756	ENST00000268919.4:c.273G>A	17.37:g.51900667G>A			Q96MA2|Q9BXG6	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P91	ENST00000268919.4	37	c.273	CCDS32685.1	17																																																																																			KIF2B	-	NULL	ENSG00000141200		0.567	KIF2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2B	HGNC	protein_coding	OTTHUMT00000438854.1	19	0.00	0	G	NM_032559		51900667	51900667	+1	no_errors	ENST00000268919	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	0.000	A
KLHL9	55958	genome.wustl.edu	37	9	21333116	21333116	+	Silent	SNP	T	T	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr9:21333116T>A	ENST00000359039.4	-	1	2263	c.1743A>T	c.(1741-1743)ccA>ccT	p.P581P	KLHL9_ENST00000537938.1_Silent_p.P513P			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	581					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CAAGTGACTCTGGAAGATCAA	0.418																																						dbGAP											0													119.0	119.0	119.0					9																	21333116		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.1743A>T	9.37:g.21333116T>A			Q8TCQ2	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.P581	ENST00000359039.4	37	c.1743	CCDS6503.1	9																																																																																			KLHL9	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000198642		0.418	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	58	0.00	0	T	NM_018847		21333116	21333116	-1	no_errors	ENST00000359039	ensembl	human	known	69_37n	silent	51	34.62	27	SNP	0.986	A
LYPD4	147719	genome.wustl.edu	37	19	42342168	42342168	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr19:42342168G>A	ENST00000330743.3	-	4	1590	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	LYPD4_ENST00000343055.4_Missense_Mutation_p.L92F|LYPD4_ENST00000601246.1_Missense_Mutation_p.L92F|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	127						anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CTGGCCTTGAGTTTCACAAAA	0.532																																						dbGAP											0													143.0	121.0	129.0					19																	42342168		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.379C>T	19.37:g.42342168G>A	ENSP00000328737:p.Leu127Phe		Q8IYW0	Missense_Mutation	SNP	pfam_LY6_UPAR	p.L127F	ENST00000330743.3	37	c.379	CCDS12587.1	19	.	.	.	.	.	.	.	.	.	.	g	14.74	2.625467	0.46840	.	.	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.13420	3.22;2.59	4.13	3.07	0.35406	.	0.000000	0.44902	D	0.000407	T	0.28366	0.0701	M	0.68317	2.08	0.30986	N	0.721932	D;D	0.67145	0.996;0.987	D;P	0.65573	0.936;0.864	T	0.10109	-1.0644	10	0.33940	T	0.23	-10.1661	9.2193	0.37366	0.0:0.0:0.7841:0.2159	.	92;127	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	F	127;92	ENSP00000328737:L127F;ENSP00000339568:L92F	ENSP00000328737:L127F	L	-	1	0	LYPD4	47034008	0.994000	0.37717	0.865000	0.33974	0.429000	0.31625	3.742000	0.55097	1.297000	0.44761	0.457000	0.33378	CTC	LYPD4	-	NULL	ENSG00000183103		0.532	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYPD4	HGNC	protein_coding	OTTHUMT00000463039.1	59	0.00	0	G	NM_173506		42342168	42342168	-1	no_errors	ENST00000330743	ensembl	human	known	69_37n	missense	40	34.43	21	SNP	0.872	A
MCAM	4162	genome.wustl.edu	37	11	119183643	119183643	+	Silent	SNP	C	C	T	rs191220491		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr11:119183643C>T	ENST00000264036.4	-	6	590	c.576G>A	c.(574-576)tcG>tcA	p.S192S	MCAM_ENST00000392814.1_Silent_p.S141S|MCAM_ENST00000530144.2_5'Flank	NM_006500.2	NP_006491.2	P43121	MUC18_HUMAN	melanoma cell adhesion molecule	192	Ig-like V-type 2.				anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|glomerular filtration (GO:0003094)|vascular wound healing (GO:0061042)	external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		CAGTCTGGGACGACTGAATGT	0.567																																						dbGAP											0													66.0	64.0	64.0					11																	119183643		2199	4295	6494	-	-	-	SO:0001819	synonymous_variant	0			X68264	CCDS31690.1	11q23.3	2013-01-29				ENSG00000076706		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6934	protein-coding gene	gene with protein product	"""Gicerin"""	155735				2602381, 10702685	Standard	XM_005271552		Approved	MUC18, CD146	uc001pwf.3	P43121		ENST00000264036.4:c.576G>A	11.37:g.119183643C>T			O95812|Q59E86|Q6PHR3|Q6ZTR2	Silent	SNP	pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S192	ENST00000264036.4	37	c.576	CCDS31690.1	11																																																																																			MCAM	-	pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000076706		0.567	MCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCAM	HGNC	protein_coding	OTTHUMT00000388332.2	39	0.00	0	C			119183643	119183643	-1	no_errors	ENST00000264036	ensembl	human	known	69_37n	silent	32	38.46	20	SNP	0.000	T
MFI2	4241	genome.wustl.edu	37	3	196730792	196730792	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:196730792G>A	ENST00000296350.5	-	15	2230	c.2117C>T	c.(2116-2118)tCt>tTt	p.S706F	MFI2-AS1_ENST00000446695.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000437064.1_RNA|MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000414354.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	706	Transferrin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00741}.				cellular iron ion homeostasis (GO:0006879)|iron ion import (GO:0097286)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of plasminogen activation (GO:0010756)	anchored component of plasma membrane (GO:0046658)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ferric iron binding (GO:0008199)|iron ion binding (GO:0005506)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		GCACTGCTGAGACGACATCCC	0.687																																						dbGAP											0													86.0	98.0	94.0					3																	196730792		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS3325.1, CCDS3326.1	3q28-q29	2012-10-02			ENSG00000163975	ENSG00000163975		"""CD molecules"""	7037	protein-coding gene	gene with protein product	"""melanotransferrin"", ""membrane-bound transferrin-like protein"""	155750					Standard	NM_033316		Approved	CD228, FLJ38863, MAP97, MGC4856, MTF1	uc003fxk.4	P08582	OTTHUMG00000155518	ENST00000296350.5:c.2117C>T	3.37:g.196730792G>A	ENSP00000296350:p.Ser706Phe		Q9BQE2	Missense_Mutation	SNP	pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60	p.S706F	ENST00000296350.5	37	c.2117	CCDS3325.1	3	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363873	0.82353	.	.	ENSG00000163975	ENST00000296350	T	0.02323	4.34	5.62	5.62	0.85841	.	0.247986	0.39475	N	0.001345	T	0.03827	0.0108	N	0.19112	0.55	0.80722	D	1	P	0.50819	0.939	P	0.52267	0.694	T	0.61686	-0.7012	10	0.09843	T	0.71	-13.077	12.8171	0.57671	0.0:0.1644:0.8355:0.0	.	706	P08582	TRFM_HUMAN	F	706	ENSP00000296350:S706F	ENSP00000296350:S706F	S	-	2	0	MFI2	198215189	0.493000	0.26035	0.998000	0.56505	0.940000	0.58332	3.379000	0.52440	2.639000	0.89480	0.561000	0.74099	TCT	MFI2	-	smart_Peptidase_S60,pirsf_Transferrin	ENSG00000163975		0.687	MFI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MFI2	HGNC	protein_coding	OTTHUMT00000340458.1	47	0.00	0	G			196730792	196730792	-1	no_errors	ENST00000296350	ensembl	human	known	69_37n	missense	40	31.03	18	SNP	0.981	A
MIR3179-1	100422960	genome.wustl.edu	37	16	14995686	14995686	+	lincRNA	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr16:14995686G>A	ENST00000578940.1	+	0	168					NR_036140.1|NR_036143.1|NR_036145.1				microRNA 3179-1																		GACAGAAGCCGGCAGCTGCTG	0.582																																						dbGAP											0																																										-	-	-			0					16p13.11	2013-05-13			ENSG00000265162	ENSG00000257264		"""ncRNAs / Micro RNAs"""	38353	non-coding RNA	RNA, micro							Standard	NR_036140		Approved	hsa-mir-3179-1					16.37:g.14995686G>A				RNA	SNP	-	NULL	ENST00000578940.1	37	NULL		16																																																																																			MIR3179-1	-	-	ENSG00000257264		0.582	MIR3179-1-201	KNOWN	basic	miRNA	MIR3179-1	HGNC	lincRNA		14	0.00	0	G	NR_036140		14995686	14995686	+1	no_errors	ENST00000546674	ensembl	human	known	69_37n	rna	9	35.71	5	SNP	0.037	A
KMT2C	58508	genome.wustl.edu	37	7	151880169	151880169	+	Nonsense_Mutation	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr7:151880169G>A	ENST00000262189.6	-	35	5373	c.5155C>T	c.(5155-5157)Cag>Tag	p.Q1719*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1719*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1719	Gln-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										TGCTGTTGCTGCCTTTTCATG	0.363																																						dbGAP											0													314.0	319.0	317.0					7																	151880169		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.5155C>T	7.37:g.151880169G>A	ENSP00000262189:p.Gln1719*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1719*	ENST00000262189.6	37	c.5155	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	47	13.237098	0.99729	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.7	4.7	0.59300	.	0.000000	0.42548	D	0.000694	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	.	18.5294	0.90986	0.0:0.0:1.0:0.0	.	.	.	.	X	1719	.	ENSP00000262189:Q1719X	Q	-	1	0	MLL3	151511102	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.231000	0.78106	2.551000	0.86045	0.563000	0.77884	CAG	MLL3	-	NULL	ENSG00000055609		0.363	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	108	0.00	0	G			151880169	151880169	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	nonsense	61	41.90	44	SNP	1.000	A
APEH	327	genome.wustl.edu	37	3	49721622	49721622	+	IGR	SNP	C	C	T	rs200268600		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:49721622C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000449682.2_Splice_Site_p.G673S|MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCGTAGTCACCCTGGCAGGTA	0.567																																						dbGAP											0													19.0	19.0	19.0					3																	49721622		2202	4294	6496	-	-	-	SO:0001628	intergenic_variant	0			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49721622C>T			Q9BQ33|Q9P0Y2	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,prints_Peptidase_S1A	p.G673S	ENST00000296456.5	37	c.2017	CCDS2801.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.4|26.4	4.733873|4.733873	0.89482|0.89482	.|.	.|.	ENSG00000173531|ENSG00000173531	ENST00000448220|ENST00000449682	.|D	.|0.97924	.|-4.61	5.59|5.59	5.59|5.59	0.84812|0.84812	.|.	0.000000|0.000000	0.43260|0.43260	D|D	0.000594|0.000594	D|D	0.98893|0.98893	0.9625|0.9625	M|M	0.86573|0.86573	2.825|2.825	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.77004	.|0.989	D|D	0.99593|0.99593	1.0976|1.0976	6|10	.|0.66056	.|D	.|0.02	.|.	19.5863|19.5863	0.95490|0.95490	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|673	.|G3XAK1	.|.	E|S	142|673	.|ENSP00000414287:G673S	.|ENSP00000414287:G673S	G|G	-|-	2|1	0|0	MST1|MST1	49696626|49696626	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	4.520000|4.520000	0.60524|0.60524	2.621000|2.621000	0.88768|0.88768	0.655000|0.655000	0.94253|0.94253	GGG|GGT	MST1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	ENSG00000173531		0.567	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	107	0.93	1	C			49721622	49721622	-1	no_errors	ENST00000449682	ensembl	human	known	69_37n	missense	72	13.25	11	SNP	1.000	T
OBSL1	23363	genome.wustl.edu	37	2	220431781	220431781	+	Silent	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr2:220431781G>A	ENST00000404537.1	-	5	1961	c.1905C>T	c.(1903-1905)ttC>ttT	p.F635F	OBSL1_ENST00000373876.1_Silent_p.F635F|OBSL1_ENST00000373873.4_Silent_p.F635F|OBSL1_ENST00000603926.1_Silent_p.F635F|OBSL1_ENST00000289656.3_Silent_p.F222F|OBSL1_ENST00000265318.4_Silent_p.F635F	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	635					cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GATCGAGGGAGAAGACGGCAT	0.602																																						dbGAP											0													27.0	29.0	28.0					2																	220431781		2048	4198	6246	-	-	-	SO:0001819	synonymous_variant	0			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.1905C>T	2.37:g.220431781G>A			A4KVA4|A4KVA5|Q96IW3|S4R3M6	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.F635	ENST00000404537.1	37	c.1905	CCDS46520.1	2																																																																																			OBSL1	-	smart_Ig_sub	ENSG00000124006		0.602	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	45	0.00	0	G			220431781	220431781	-1	no_errors	ENST00000404537	ensembl	human	known	69_37n	silent	41	37.88	25	SNP	1.000	A
OR7A5	26659	genome.wustl.edu	37	19	14938212	14938212	+	Missense_Mutation	SNP	A	A	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr19:14938212A>T	ENST00000322301.3	-	2	929	c.842T>A	c.(841-843)gTc>gAc	p.V281D	OR7A5_ENST00000594432.1_Missense_Mutation_p.V281D|OR7A5_ENST00000601611.1_Intron			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	281					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CATGGGGGTGACCACAGTGTA	0.463																																						dbGAP											0													84.0	77.0	80.0					19																	14938212		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64976	CCDS12318.1	19p13.1	2012-08-09	2003-12-09			ENSG00000188269		"""GPCR / Class A : Olfactory receptors"""	8368	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily A, member 5 pseudogene"""				Standard	XM_006722722		Approved	HTPCR2	uc002mzw.3	Q15622		ENST00000322301.3:c.842T>A	19.37:g.14938212A>T	ENSP00000316955:p.Val281Asp		B2R682|Q6IFP1|Q96R96	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V281D	ENST00000322301.3	37	c.842	CCDS12318.1	19	.	.	.	.	.	.	.	.	.	.	a	13.52	2.262622	0.39995	.	.	ENSG00000188269	ENST00000322301	T	0.00302	8.2	3.12	0.996	0.19844	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01061	0.0035	H	0.98802	4.335	0.09310	N	0.99999	D	0.76494	0.999	D	0.78314	0.991	T	0.36962	-0.9726	9	0.87932	D	0	.	5.8591	0.18736	0.7411:0.0:0.2589:0.0	.	281	Q15622	OR7A5_HUMAN	D	281	ENSP00000316955:V281D	ENSP00000316955:V281D	V	-	2	0	OR7A5	14799212	0.003000	0.15002	0.928000	0.36995	0.561000	0.35649	2.041000	0.41213	0.446000	0.26666	0.102000	0.15555	GTC	OR7A5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000188269		0.463	OR7A5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7A5	HGNC	protein_coding	OTTHUMT00000466518.1	57	0.00	0	A	NM_017506		14938212	14938212	-1	no_errors	ENST00000322301	ensembl	human	known	69_37n	missense	32	50.00	32	SNP	0.006	T
PCGF6	84108	genome.wustl.edu	37	10	105110755	105110756	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr10:105110755_105110756delCA	ENST00000369847.3	-	1	135_136	c.68_69delTG	c.(67-69)ttgfs	p.L23fs	PCGF6_ENST00000337211.4_Frame_Shift_Del_p.L23fs|PCGF6_ENST00000490296.1_5'UTR	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	23	Pro-rich.		L -> LPP. {ECO:0000269|PubMed:12167161, ECO:0000269|PubMed:15489334}.		negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		gcggaggcggCAAGGCTGCAGC	0.743																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB047006	CCDS7546.1, CCDS31275.1	10q24.33	2013-01-09	2005-01-17	2005-01-19	ENSG00000156374	ENSG00000156374		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	21156	protein-coding gene	gene with protein product		607816	"""ring finger protein 134"""	RNF134		12167161	Standard	NM_032154		Approved	MBLR	uc001kwt.3	Q9BYE7	OTTHUMG00000018982	ENST00000369847.3:c.68_69delTG	10.37:g.105110755_105110756delCA	ENSP00000358862:p.Leu23fs		A8K3R4|Q5SYD1|Q5SYD6|Q96ID9|Q96SJ1	Frame_Shift_Del	DEL	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L23fs	ENST00000369847.3	37	c.69_68	CCDS31275.1	10																																																																																			PCGF6	-	NULL	ENSG00000156374		0.743	PCGF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCGF6	HGNC	protein_coding	OTTHUMT00000050132.1	13	0.00	0	CA	NM_032154		105110755	105110756	-1	no_errors	ENST00000369847	ensembl	human	known	69_37n	frame_shift_del	7	36.36	4	DEL	0.953:0.836	-
PDE9A	5152	genome.wustl.edu	37	21	44174151	44174151	+	Missense_Mutation	SNP	G	G	A	rs188819062		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr21:44174151G>A	ENST00000291539.6	+	10	847	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	PDE9A_ENST00000335512.4_Missense_Mutation_p.V203I|PDE9A_ENST00000398229.3_Missense_Mutation_p.V129I|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Missense_Mutation_p.V222I|PDE9A_ENST00000398227.3_Missense_Mutation_p.V103I|PDE9A_ENST00000539837.1_Missense_Mutation_p.V135I|PDE9A_ENST00000398234.3_Missense_Mutation_p.V162I|PDE9A_ENST00000398224.3_Missense_Mutation_p.V136I|PDE9A_ENST00000349112.3_Missense_Mutation_p.V135I|PDE9A_ENST00000335440.6_Missense_Mutation_p.V161I|PDE9A_ENST00000398236.3_Missense_Mutation_p.V177I|PDE9A_ENST00000328862.6_Missense_Mutation_p.V237I|PDE9A_ENST00000398232.3_Missense_Mutation_p.V196I|PDE9A_ENST00000380328.2_Missense_Mutation_p.V210I	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	263					blood coagulation (GO:0007596)|cGMP-mediated signaling (GO:0019934)|metabolic process (GO:0008152)|signal transduction (GO:0007165)	cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Caffeine(DB00201)	GACCTTTGACGTCTGGCTTTG	0.627																																						dbGAP											0													67.0	55.0	59.0					21																	44174151		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF048837	CCDS13690.1, CCDS33567.1, CCDS33568.1, CCDS33569.1, CCDS33570.1, CCDS33571.1, CCDS42941.1, CCDS42942.1, CCDS42943.1, CCDS42944.1, CCDS42945.1, CCDS42946.1, CCDS42947.1	21q22.3	2005-11-29			ENSG00000160191	ENSG00000160191	3.1.4.17	"""Phosphodiesterases"""	8795	protein-coding gene	gene with protein product		602973				9624146	Standard	NM_001001584		Approved		uc002zbm.3	O76083	OTTHUMG00000086825	ENST00000291539.6:c.787G>A	21.37:g.44174151G>A	ENSP00000291539:p.Val263Ile		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.V263I	ENST00000291539.6	37	c.787	CCDS13690.1	21	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	14.69	2.611076	0.46631	.	.	ENSG00000160191	ENST00000335512;ENST00000539837;ENST00000291539;ENST00000380328;ENST00000398232;ENST00000398234;ENST00000398236;ENST00000328862;ENST00000335440;ENST00000398225;ENST00000398229;ENST00000398227;ENST00000349112;ENST00000398224	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	4.54	4.54	0.55810	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	N	0.17082	0.46	0.43039	D	0.994624	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.23185	0.012;0.026;0.012;0.012;0.026;0.072;0.04;0.012;0.046;0.046;0.012;0.081;0.072;0.021;0.026;0.043	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.21151	0.008;0.014;0.008;0.008;0.014;0.033;0.012;0.009;0.008;0.008;0.008;0.012;0.018;0.014;0.008;0.004	T	0.54241	-0.8323	10	0.06625	T	0.88	.	15.5537	0.76173	0.0:0.0:1.0:0.0	.	135;196;177;162;237;222;155;203;46;103;129;135;161;210;136;263	F5GWD0;O76083-13;O76083-8;O76083-6;O76083-15;O76083-14;O76083-16;O76083-2;O76083-10;O76083-9;O76083-11;O76083-4;O76083-12;O76083-5;O76083-3;O76083	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;PDE9A_HUMAN	I	203;135;263;210;196;162;177;237;161;222;129;103;135;136	ENSP00000335242:V203I;ENSP00000441899:V135I;ENSP00000291539:V263I;ENSP00000369685:V210I;ENSP00000381287:V196I;ENSP00000381289:V162I;ENSP00000381291:V177I;ENSP00000328699:V237I;ENSP00000335365:V161I;ENSP00000381281:V222I;ENSP00000381285:V129I;ENSP00000381283:V103I;ENSP00000344730:V135I;ENSP00000381280:V136I	ENSP00000291539:V263I	V	+	1	0	PDE9A	43047220	1.000000	0.71417	0.995000	0.50966	0.948000	0.59901	8.848000	0.92172	2.096000	0.63516	0.555000	0.69702	GTC	PDE9A	-	NULL	ENSG00000160191		0.627	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	33	0.00	0	G			44174151	44174151	+1	no_errors	ENST00000291539	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	16	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	18	41.94	13	SNP	1.000	G
PIP5KL1	138429	genome.wustl.edu	37	9	130689444	130689444	+	Missense_Mutation	SNP	C	C	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr9:130689444C>T	ENST00000388747.4	-	7	682	c.638G>A	c.(637-639)cGc>cAc	p.R213H	PIP5KL1_ENST00000490773.1_5'UTR|PIP5KL1_ENST00000300432.3_Missense_Mutation_p.R10H	NM_001135219.1	NP_001128691.1	Q5T9C9	PI5L1_HUMAN	phosphatidylinositol-4-phosphate 5-kinase-like 1	213	PIPK. {ECO:0000255|PROSITE- ProRule:PRU00781}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CTCGGAGATGCGGCCGGCGGG	0.672																																						dbGAP											0													30.0	30.0	30.0					9																	130689444		2203	4299	6502	-	-	-	SO:0001583	missense	0			BC042184	CCDS6885.1, CCDS48030.1	9q34.13	2008-02-05			ENSG00000167103	ENSG00000167103			28711	protein-coding gene	gene with protein product		612865				12477932	Standard	NM_001135219		Approved	bA203J24.5, MGC46424	uc011mao.2	Q5T9C9	OTTHUMG00000020719	ENST00000388747.4:c.638G>A	9.37:g.130689444C>T	ENSP00000373399:p.Arg213His		Q8IVS3	Missense_Mutation	SNP	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	p.R10H	ENST00000388747.4	37	c.29	CCDS48030.1	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146752	0.77888	.	.	ENSG00000167103	ENST00000388747;ENST00000300432	T;T	0.36878	1.23;1.23	4.72	4.72	0.59763	Phosphatidylinositol-4-phosphate 5-kinase, core (2);	0.056069	0.64402	D	0.000006	T	0.52125	0.1715	L	0.52759	1.655	0.54753	D	0.999987	D	0.76494	0.999	D	0.65987	0.94	T	0.51148	-0.8742	10	0.48119	T	0.1	-13.5607	15.5248	0.75894	0.0:1.0:0.0:0.0	.	213	Q5T9C9	PI5L1_HUMAN	H	213;10	ENSP00000373399:R213H;ENSP00000300432:R10H	ENSP00000300432:R10H	R	-	2	0	PIP5KL1	129729265	1.000000	0.71417	0.983000	0.44433	0.247000	0.25773	6.315000	0.72853	2.317000	0.78254	0.491000	0.48974	CGC	PIP5KL1	-	pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub	ENSG00000167103		0.672	PIP5KL1-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PIP5KL1	HGNC	protein_coding	OTTHUMT00000054289.2	47	0.00	0	C	NM_173492		130689444	130689444	-1	no_errors	ENST00000300432	ensembl	human	known	69_37n	missense	33	10.81	4	SNP	1.000	T
POU4F1	5457	genome.wustl.edu	37	13	79177419	79177419	+	Missense_Mutation	SNP	G	G	T			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr13:79177419G>T	ENST00000377208.5	-	1	254	c.43C>A	c.(43-45)Ccc>Acc	p.P15T	RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000607860.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000444769.3_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	15					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		GGGAGGGTGGGATGCATGGCA	0.637																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	dbGAP											0													171.0	135.0	147.0					13																	79177419		2203	4300	6503	-	-	-	SO:0001583	missense	0			X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.43C>A	13.37:g.79177419G>T	ENSP00000366413:p.Pro15Thr		Q14986|Q15318|Q5T227	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.P15T	ENST00000377208.5	37	c.43	CCDS31996.1	13	.	.	.	.	.	.	.	.	.	.	G	23.0	4.359725	0.82353	.	.	ENSG00000152192	ENST00000377208	T	0.25085	1.82	5.47	5.47	0.80525	.	2.102490	0.03247	N	0.181235	T	0.33118	0.0852	L	0.35542	1.07	0.80722	D	1	P	0.45396	0.857	B	0.42827	0.399	T	0.38779	-0.9645	10	0.46703	T	0.11	.	19.2973	0.94128	0.0:0.0:1.0:0.0	.	15	Q01851	PO4F1_HUMAN	T	15	ENSP00000366413:P15T	ENSP00000366413:P15T	P	-	1	0	POU4F1	78075420	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.965000	0.70387	2.723000	0.93209	0.655000	0.94253	CCC	POU4F1	-	NULL	ENSG00000152192		0.637	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F1	HGNC	protein_coding	OTTHUMT00000045360.3	35	0.00	0	G			79177419	79177419	-1	no_errors	ENST00000377208	ensembl	human	known	69_37n	missense	22	15.38	4	SNP	1.000	T
PSG6	5675	genome.wustl.edu	37	19	43407829	43407829	+	Missense_Mutation	SNP	A	A	C			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr19:43407829A>C	ENST00000292125.2	-	6	1329	c.1285T>G	c.(1285-1287)Ttt>Gtt	p.F429V	PSG6_ENST00000187910.2_Intron|PSG6_ENST00000402603.4_Intron	NM_002782.4	NP_002773.1	Q00889	PSG6_HUMAN	pregnancy specific beta-1-glycoprotein 6	429					female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				atttcttgaaaccaggtgttt	0.408																																						dbGAP											0													57.0	54.0	55.0					19																	43407829		1326	2309	3635	-	-	-	SO:0001583	missense	0				CCDS12613.1, CCDS33038.1	19q13.2	2013-01-29			ENSG00000170848	ENSG00000170848		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9523	protein-coding gene	gene with protein product		176395				1690992	Standard	NM_002782		Approved			Q00889	OTTHUMG00000151127	ENST00000292125.2:c.1285T>G	19.37:g.43407829A>C	ENSP00000292125:p.Phe429Val		O75244|Q15224|Q15235|Q549K1	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.F429V	ENST00000292125.2	37	c.1285	CCDS12613.1	19	.	.	.	.	.	.	.	.	.	.	a	1.999	-0.429915	0.04701	.	.	ENSG00000170848	ENST00000292125	T	0.26660	1.72	0.476	-0.951	0.10369	.	.	.	.	.	T	0.09247	0.0228	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37820	-0.9689	8	0.08599	T	0.76	.	.	.	.	.	429	Q00889	PSG6_HUMAN	V	429	ENSP00000292125:F429V	ENSP00000292125:F429V	F	-	1	0	PSG6	48099669	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.557000	0.05985	-0.432000	0.07297	0.113000	0.15668	TTT	PSG6	-	NULL	ENSG00000170848		0.408	PSG6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG6	HGNC	protein_coding	OTTHUMT00000321436.1	75	0.00	0	A	NM_002782		43407829	43407829	-1	no_errors	ENST00000292125	ensembl	human	known	69_37n	missense	37	31.48	17	SNP	0.000	C
ROBO4	54538	genome.wustl.edu	37	11	124756666	124756666	+	Missense_Mutation	SNP	A	A	G			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr11:124756666A>G	ENST00000306534.3	-	16	2973	c.2488T>C	c.(2488-2490)Tac>Cac	p.Y830H	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.Y685H	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	830					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|negative regulation of cell migration (GO:0030336)|regulation of cell migration (GO:0030334)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		ACGCTGATGTACCCATAGGTG	0.622																																						dbGAP											0													74.0	76.0	75.0					11																	124756666		2201	4299	6500	-	-	-	SO:0001583	missense	0			AF361473	CCDS8455.1, CCDS73409.1	11q24.2	2013-02-11	2011-12-09		ENSG00000154133	ENSG00000154133		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17985	protein-coding gene	gene with protein product	"""magic roundabout"""	607528	"""roundabout homolog 4 (Drosophila)"""			11076864	Standard	NM_019055		Approved	FLJ20798, MRB, ECSM4	uc001qbg.3	Q8WZ75	OTTHUMG00000165936	ENST00000306534.3:c.2488T>C	11.37:g.124756666A>G	ENSP00000304945:p.Tyr830His		A8K154|Q14DU7|Q8TEG1|Q96JV6|Q9H718|Q9NWJ8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Y830H	ENST00000306534.3	37	c.2488	CCDS8455.1	11	.	.	.	.	.	.	.	.	.	.	a	16.78	3.217120	0.58560	.	.	ENSG00000154133	ENST00000306534;ENST00000533054	D;D	0.88354	-2.37;-1.74	5.17	5.17	0.71159	.	0.000000	0.32901	N	0.005508	D	0.94118	0.8114	M	0.78637	2.42	0.26983	N	0.965326	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.981	D	0.89300	0.3625	10	0.72032	D	0.01	.	15.0306	0.71705	1.0:0.0:0.0:0.0	.	830;830	Q8WZ75-2;Q8WZ75	.;ROBO4_HUMAN	H	830;685	ENSP00000304945:Y830H;ENSP00000437129:Y685H	ENSP00000304945:Y830H	Y	-	1	0	ROBO4	124261876	1.000000	0.71417	0.866000	0.34008	0.716000	0.41182	7.019000	0.76412	1.941000	0.56285	0.529000	0.55759	TAC	ROBO4	-	NULL	ENSG00000154133		0.622	ROBO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO4	HGNC	protein_coding	OTTHUMT00000387111.1	58	0.00	0	A	NM_019055		124756666	124756666	-1	no_errors	ENST00000306534	ensembl	human	known	69_37n	missense	25	40.48	17	SNP	0.945	G
RUNDC3B	154661	genome.wustl.edu	37	7	87323239	87323239	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr7:87323239G>A	ENST00000338056.3	+	3	665	c.254G>A	c.(253-255)tGc>tAc	p.C85Y	RUNDC3B_ENST00000493037.1_Intron|RUNDC3B_ENST00000394654.3_Intron|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	85	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TCCCAAAGTTGCAGATGGCTG	0.433																																						dbGAP											0													79.0	80.0	80.0					7																	87323239		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.254G>A	7.37:g.87323239G>A	ENSP00000337732:p.Cys85Tyr		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	pfam_Run,smart_Run,pfscan_Run	p.C85Y	ENST00000338056.3	37	c.254	CCDS5609.1	7	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622899	0.28889	.	.	ENSG00000105784	ENST00000338056	T	0.10763	2.84	4.23	2.25	0.28309	RUN (2);	0.767368	0.11330	N	0.575134	T	0.06142	0.0159	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.14578	0.011	T	0.24404	-1.0161	10	0.48119	T	0.1	-5.5421	8.8698	0.35309	0.0:0.0:0.594:0.406	.	85	Q96NL0	RUN3B_HUMAN	Y	85	ENSP00000337732:C85Y	ENSP00000337732:C85Y	C	+	2	0	RUNDC3B	87161175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.071000	0.30666	0.450000	0.26774	0.555000	0.69702	TGC	RUNDC3B	-	pfam_Run,pfscan_Run	ENSG00000105784		0.433	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	RUNDC3B	HGNC	protein_coding	OTTHUMT00000253679.1	53	0.00	0	G	NM_138290		87323239	87323239	+1	no_errors	ENST00000338056	ensembl	human	known	69_37n	missense	47	35.62	26	SNP	1.000	A
SETMAR	6419	genome.wustl.edu	37	3	4345766	4345766	+	Intron	SNP	C	C	T	rs13099918	byFrequency	TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:4345766C>T	ENST00000358065.4	+	1	223				SETMAR_ENST00000430981.1_Intron|SETMAR_ENST00000462115.1_3'UTR|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene						DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		atacactttccggtttgctgt	0.433								Chromatin Structure					T|||	904	0.180511	0.0734	0.2983	5008	,	,		20909	0.0843		0.3857	False		,,,				2504	0.1299					dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.156+556C>T	3.37:g.4345766C>T			B4DY74|E7EN68|Q13579|Q1G668|Q96F41	RNA	SNP	-	NULL	ENST00000358065.4	37	NULL	CCDS2563.2	3																																																																																			SETMAR	-	-	ENSG00000170364		0.433	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETMAR	HGNC	protein_coding	OTTHUMT00000206587.4	37	0.00	0	C	NM_006515		4345766	4345766	+1	no_errors	ENST00000462115	ensembl	human	putative	69_37n	rna	19	13.64	3	SNP	0.001	T
SLC45A1	50651	genome.wustl.edu	37	1	8390620	8390620	+	Frame_Shift_Del	DEL	G	G	-			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr1:8390620delG	ENST00000471889.1	+	5	1452	c.1067delG	c.(1066-1068)agcfs	p.S357fs	Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Frame_Shift_Del_p.S357fs|SLC45A1_ENST00000377479.2_Frame_Shift_Del_p.S391fs|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	357					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGGACAGCTCCCTGACG	0.647																																						dbGAP											0													46.0	44.0	45.0					1																	8390620		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1067delG	1.37:g.8390620delG	ENSP00000418096:p.Ser357fs		Q5VY46|Q5VY49	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S390fs	ENST00000471889.1	37	c.1169	CCDS30577.1	1																																																																																			SLC45A1	-	NULL	ENSG00000162426		0.647	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A1	HGNC	protein_coding	OTTHUMT00000001245.5	64	0.00	0	G			8390620	8390620	+1	no_errors	ENST00000377479	ensembl	human	known	69_37n	frame_shift_del	60	21.95	18	DEL	0.999	-
TGFBR2	7048	genome.wustl.edu	37	3	30713273	30713273	+	Missense_Mutation	SNP	A	A	G			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:30713273A>G	ENST00000295754.5	+	4	980	c.598A>G	c.(598-600)Acc>Gcc	p.T200A	TGFBR2_ENST00000359013.4_Missense_Mutation_p.T225A	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	200					activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GCTGAGTTCAACCTGGGAAAC	0.552																																						dbGAP											0													67.0	58.0	61.0					3																	30713273		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.598A>G	3.37:g.30713273A>G	ENSP00000295754:p.Thr200Ala		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_Activin_II/TGFBeta-II_recpt,pfscan_Prot_kinase_cat_dom	p.T225A	ENST00000295754.5	37	c.673	CCDS2648.1	3	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.645050	0.00792	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000383765;ENST00000439925	T;T	0.63417	-0.04;-0.04	5.43	1.83	0.25207	.	0.584268	0.18683	N	0.134100	T	0.21674	0.0522	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.29882	-0.9997	10	0.08837	T	0.75	.	6.1481	0.20296	0.2119:0.0:0.4672:0.3208	.	200;225	P37173;D2JYI1	TGFR2_HUMAN;.	A	200;225;102;66	ENSP00000295754:T200A;ENSP00000351905:T225A	ENSP00000295754:T200A	T	+	1	0	TGFBR2	30688277	0.026000	0.19158	0.459000	0.27081	0.161000	0.22273	0.146000	0.16180	0.353000	0.24079	-0.270000	0.10280	ACC	TGFBR2	-	pirsf_Transform_growth_fac-b_typ-2	ENSG00000163513		0.552	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR2	HGNC	protein_coding	OTTHUMT00000252994.2	35	0.00	0	A			30713273	30713273	+1	no_errors	ENST00000359013	ensembl	human	known	69_37n	missense	21	38.24	13	SNP	0.044	G
TGS1	96764	genome.wustl.edu	37	8	56711725	56711725	+	Missense_Mutation	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr8:56711725G>A	ENST00000260129.5	+	8	2272	c.1795G>A	c.(1795-1797)Gag>Aag	p.E599K		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	599					7-methylguanosine cap hypermethylation (GO:0036261)|7-methylguanosine RNA capping (GO:0009452)|cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|regulation of transcription, DNA-templated (GO:0006355)|ribonucleoprotein complex biogenesis (GO:0022613)|ribonucleoprotein complex import into nucleus (GO:0071167)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)	RNA trimethylguanosine synthase activity (GO:0071164)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			TGTTCCAGATGAGCAGGATTG	0.403																																					Esophageal Squamous(34;275 823 4842 34837 48447)	dbGAP											0													70.0	69.0	69.0					8																	56711725		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY028423	CCDS34894.1	8q11	2010-06-25	2010-06-25	2006-11-27	ENSG00000137574	ENSG00000137574	2.1.1.-		17843	protein-coding gene	gene with protein product		606461	"""nuclear receptor coactivator 6 interacting protein"", ""trimethylguanosine synthase homolog (S. cerevisiae)"""	NCOA6IP		11517327, 11983179, 19307714	Standard	NM_024831		Approved	PIMT	uc003xsj.4	Q96RS0	OTTHUMG00000164294	ENST00000260129.5:c.1795G>A	8.37:g.56711725G>A	ENSP00000260129:p.Glu599Lys		A6NJQ5|Q5GH23|Q8TDG9|Q96QU3|Q9H5V3	Missense_Mutation	SNP	pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.E599K	ENST00000260129.5	37	c.1795	CCDS34894.1	8	.	.	.	.	.	.	.	.	.	.	G	8.458	0.854724	0.17106	.	.	ENSG00000137574	ENST00000260129	T	0.09817	2.94	5.57	-6.47	0.01902	.	1.140660	0.06377	N	0.714604	T	0.06005	0.0156	N	0.17474	0.49	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.44590	-0.9318	10	0.15952	T	0.53	-0.0012	12.213	0.54389	0.1835:0.1257:0.6908:0.0	.	599;599	B2RBJ7;Q96RS0	.;TGS1_HUMAN	K	599	ENSP00000260129:E599K	ENSP00000260129:E599K	E	+	1	0	TGS1	56874279	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.191000	0.09601	-1.152000	0.02832	-0.806000	0.03193	GAG	TGS1	-	NULL	ENSG00000137574		0.403	TGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGS1	HGNC	protein_coding	OTTHUMT00000378152.1	31	0.00	0	G	NM_024831		56711725	56711725	+1	no_errors	ENST00000260129	ensembl	human	known	69_37n	missense	11	21.43	3	SNP	0.000	A
TRAK1	22906	genome.wustl.edu	37	3	42234667	42234667	+	Silent	SNP	A	A	G			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr3:42234667A>G	ENST00000327628.5	+	8	1270	c.870A>G	c.(868-870)caA>caG	p.Q290Q	TRAK1_ENST00000396175.1_Silent_p.Q232Q|TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000341421.3_Silent_p.Q232Q|TRAK1_ENST00000449246.1_Silent_p.Q216Q	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	290	HAP1 N-terminal.				endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGCTATCGCAAATAGTTGATT	0.488																																					GBM(44;195 884 22595 31865 41850)	dbGAP											0													113.0	107.0	109.0					3																	42234667		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.870A>G	3.37:g.42234667A>G			E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Silent	SNP	pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom	p.Q232	ENST00000327628.5	37	c.696	CCDS43072.1	3																																																																																			TRAK1	-	pfam_HAP1_N	ENSG00000182606		0.488	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TRAK1	HGNC	protein_coding	OTTHUMT00000343413.1	59	0.00	0	A	NM_014965		42234667	42234667	+1	no_errors	ENST00000396175	ensembl	human	known	69_37n	silent	40	34.43	21	SNP	0.931	G
TUT1	64852	genome.wustl.edu	37	11	62343415	62343415	+	Silent	SNP	G	G	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr11:62343415G>A	ENST00000476907.1	-	9	2467	c.1776C>T	c.(1774-1776)ctC>ctT	p.L592L	TUT1_ENST00000308436.7_Silent_p.L630L|EEF1G_ENST00000329251.4_5'Flank|MIR3654_ENST00000496634.2_Intron|EEF1G_ENST00000378019.3_5'Flank|EEF1G_ENST00000532986.1_5'Flank			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	592					mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|snRNA processing (GO:0016180)	intercellular bridge (GO:0045171)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|mRNA 3'-UTR binding (GO:0003730)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)|RNA uridylyltransferase activity (GO:0050265)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCAGAAGAGGGAGCAGCCCCC	0.662																																						dbGAP											0													38.0	42.0	41.0					11																	62343415		2202	4299	6501	-	-	-	SO:0001819	synonymous_variant	0			BC005013	CCDS8021.1, CCDS8021.2	11q12.2	2014-03-05	2006-10-06	2006-10-06	ENSG00000149016	ENSG00000149016	2.7.7.52	"""RNA binding motif (RRM) containing"""	26184	protein-coding gene	gene with protein product	"""RNA uridylyltransferase"", ""U6 TUTase"", ""TUTase 6"""	610641	"""RNA binding motif protein 21"""	RBM21		16790842	Standard	NM_022830		Approved	FLJ22347, FLJ22267, FLJ21850, PAPD2, TUTase	uc001nto.2	Q9H6E5	OTTHUMG00000158564	ENST00000476907.1:c.1776C>T	11.37:g.62343415G>A			A1A527|A8K995|Q2NL65|Q7L583|Q9H6H7	Silent	SNP	pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L630	ENST00000476907.1	37	c.1890		11																																																																																			TUT1	-	NULL	ENSG00000149016		0.662	TUT1-001	KNOWN	basic|appris_candidate	protein_coding	TUT1	HGNC	protein_coding	OTTHUMT00000351319.2	21	0.00	0	G	NM_022830		62343415	62343415	-1	no_errors	ENST00000308436	ensembl	human	known	69_37n	silent	20	48.72	19	SNP	0.995	A
UBTF	7343	genome.wustl.edu	37	17	42287812	42287812	+	Silent	SNP	G	G	A	rs143551416		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr17:42287812G>A	ENST00000302904.4	-	14	1881	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	UBTF_ENST00000436088.1_Silent_p.L463L|UBTF_ENST00000393606.3_Silent_p.L426L|UBTF_ENST00000527034.1_Silent_p.L426L|UBTF_ENST00000343638.5_Silent_p.L426L|UBTF_ENST00000533177.1_Silent_p.L426L|UBTF_ENST00000526094.1_Silent_p.L426L|CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000529383.1_Silent_p.L463L			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	463					chromatin silencing at rDNA (GO:0000183)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		ACTGAGCCTTGAGCGCCGCCT	0.706											OREG0024456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													20.0	20.0	20.0					17																	42287812		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			BC042297	CCDS11480.1, CCDS42346.1	17q21.31	2014-03-25			ENSG00000108312	ENSG00000108312			12511	protein-coding gene	gene with protein product		600673				9126496	Standard	NM_001076683		Approved	UBF, NOR-90, UBF1, UBF2	uc010czs.3	P17480	OTTHUMG00000167585	ENST00000302904.4:c.1389C>T	17.37:g.42287812G>A		907	A8K6R8	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	p.L463	ENST00000302904.4	37	c.1389	CCDS11480.1	17																																																																																			UBTF	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_ARM-type_fold,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000108312		0.706	UBTF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBTF	HGNC	protein_coding	OTTHUMT00000395205.1	33	0.00	0	G	NM_014233		42287812	42287812	-1	no_errors	ENST00000302904	ensembl	human	known	69_37n	silent	16	33.33	8	SNP	1.000	A
VDAC1	7416	genome.wustl.edu	37	5	133316707	133316708	+	Intron	INS	-	-	T	rs76032174|rs76341281		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr5:133316707_133316708insT	ENST00000265333.3	-	6	568				VDAC1_ENST00000395047.2_Intron|VDAC1_ENST00000395044.3_Intron	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1						anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TGCAAGTTGTCTTTTTTTTTTT	0.416																																					NSCLC(127;1776 1806 35523 41489 48154)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.324-60->A	5.37:g.133316718_133316718dupT			B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	RNA	INS	-	NULL	ENST00000265333.3	37	NULL	CCDS4168.1	5																																																																																			VDAC1	-	-	ENSG00000213585		0.416	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	8	0.00	0	-			133316707	133316708	-1	no_errors	ENST00000492324	ensembl	human	known	69_37n	rna	11	26.67	4	INS	0.000:0.001	T
ZFPM1	161882	genome.wustl.edu	37	16	88594480	88594480	+	Frame_Shift_Del	DEL	G	G	-	rs148071393		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr16:88594480delG	ENST00000319555.3	+	6	868	c.546delG	c.(544-546)gcgfs	p.A182fs	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	182					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CGGTGCCTGCGGGGGGACTCC	0.667																																					Pancreas(49;850 1106 29641 32847 38344)	dbGAP											0													13.0	17.0	16.0					16																	88594480		2147	4260	6407	-	-	-	SO:0001589	frameshift_variant	0			AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.546delG	16.37:g.88594480delG	ENSP00000326630:p.Ala182fs			Frame_Shift_Del	DEL	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G184fs	ENST00000319555.3	37	c.546	CCDS32502.1	16																																																																																			ZFPM1	-	NULL	ENSG00000179588		0.667	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM1	HGNC	protein_coding	OTTHUMT00000422270.2	37	0.00	0	G			88594480	88594480	+1	no_errors	ENST00000319555	ensembl	human	known	69_37n	frame_shift_del	11	59.26	16	DEL	0.000	-
ZNF260	339324	genome.wustl.edu	37	19	37005895	37005895	+	Silent	SNP	T	T	A			TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr19:37005895T>A	ENST00000523638.1	-	3	1367	c.246A>T	c.(244-246)gcA>gcT	p.A82A	ZNF260_ENST00000588993.1_Silent_p.A82A|ZNF260_ENST00000592282.1_Silent_p.A82A|ZNF260_ENST00000593142.1_Silent_p.A82A	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	82					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TACATTTATATGCCTTCTTTC	0.388																																						dbGAP											0													124.0	115.0	118.0					19																	37005895		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.246A>T	19.37:g.37005895T>A			Q0VF43	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A82	ENST00000523638.1	37	c.246	CCDS33003.1	19																																																																																			ZNF260	-	pfscan_Znf_C2H2	ENSG00000254004		0.388	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	45	0.00	0	T	NM_001012756		37005895	37005895	-1	no_errors	ENST00000523638	ensembl	human	known	69_37n	silent	22	38.89	14	SNP	0.037	A
ZNF285	26974	genome.wustl.edu	37	19	44891062	44891063	+	Frame_Shift_Del	DEL	CT	CT	-	rs550849455		TCGA-LL-A50Y-01A-11D-A25Q-09	TCGA-LL-A50Y-10A-01D-A25Q-09	CT	CT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	86f75e23-4693-49c0-961e-cff4c8ce91bb	173efdd7-0fb1-4752-a09b-698cb8f423e4	g.chr19:44891062_44891063delCT	ENST00000330997.4	-	4	1408_1409	c.1344_1345delAG	c.(1342-1347)agagtcfs	p.RV448fs	ZNF285_ENST00000591679.1_Frame_Shift_Del_p.RV455fs|ZNF285_ENST00000544719.2_Frame_Shift_Del_p.RV448fs|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3	Q96NJ3	ZN285_HUMAN	zinc finger protein 285	448					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CCTGTGTGGACTCTCTGGTGAA	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055309	CCDS12638.1, CCDS74389.1	19q13.32	2013-01-08	2010-04-14	2010-04-14		ENSG00000267508		"""Zinc fingers, C2H2-type"", ""-"""	13079	protein-coding gene	gene with protein product			"""zinc finger protein 285A"""	ZNF285A			Standard	XM_005258734		Approved			Q96NJ3	OTTHUMG00000178848	ENST00000330997.4:c.1344_1345delAG	19.37:g.44891066_44891067delCT	ENSP00000333595:p.Arg448fs		Q17RJ3|Q6B0A8|Q6ISR5	Frame_Shift_Del	DEL	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.R448fs	ENST00000330997.4	37	c.1345_1344	CCDS12638.1	19																																																																																			ZNF285	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000267508		0.460	ZNF285-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF285	HGNC	protein_coding	OTTHUMT00000443600.1	82	0.00	0	CT	NM_152354		44891062	44891063	-1	no_errors	ENST00000330997	ensembl	human	known	69_37n	frame_shift_del	43	45.00	36	DEL	0.997:0.985	-
