#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
AFF3	3899	genome.wustl.edu	37	2	100194818	100194820	+	In_Frame_Del	DEL	GCA	GCA	-			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	GCA	GCA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr2:100194818_100194820delGCA	ENST00000409236.2	-	16	2999_3001	c.2887_2889delTGC	c.(2887-2889)tgcdel	p.C963del	AFF3_ENST00000356421.2_In_Frame_Del_p.C988del|AFF3_ENST00000317233.4_In_Frame_Del_p.C963del|AFF3_ENST00000409579.1_In_Frame_Del_p.C988del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	963					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TCTGCCTCTTGCAGTCCCTGTGG	0.512																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2887_2889delTGC	2.37:g.100194818_100194820delGCA	ENSP00000387207:p.Cys963del		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	In_Frame_Del	DEL	pfam_TF_AF4/FMR2	p.C988in_frame_del	ENST00000409236.2	37	c.2964_2962	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.512	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	126	0.00	0	GCA	NM_002285		100194818	100194820	-1	no_errors	ENST00000356421	ensembl	human	known	69_37n	in_frame_del	105	21.48	29	DEL	1.000:1.000:1.000	-
AFF3	3899	genome.wustl.edu	37	2	100194823	100194824	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr2:100194823_100194824delCC	ENST00000409236.2	-	16	2995_2996	c.2883_2884delGG	c.(2881-2886)agggacfs	p.D962fs	AFF3_ENST00000356421.2_Frame_Shift_Del_p.D987fs|AFF3_ENST00000317233.4_Frame_Shift_Del_p.D962fs|AFF3_ENST00000409579.1_Frame_Shift_Del_p.D987fs			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	962					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTCTTGCAGTCCCTGTGGCCGT	0.505																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2883_2884delGG	2.37:g.100194823_100194824delCC	ENSP00000387207:p.Asp962fs		B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Frame_Shift_Del	DEL	pfam_TF_AF4/FMR2	p.D987fs	ENST00000409236.2	37	c.2959_2958	CCDS42723.1	2																																																																																			AFF3	-	pfam_TF_AF4/FMR2	ENSG00000144218		0.505	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFF3	HGNC	protein_coding	OTTHUMT00000328982.3	124	0.00	0	CC	NM_002285		100194823	100194824	-1	no_errors	ENST00000356421	ensembl	human	known	69_37n	frame_shift_del	79	25.47	27	DEL	1.000:0.993	-
ANKRD12	23253	genome.wustl.edu	37	18	9256071	9256074	+	Frame_Shift_Del	DEL	AAAC	AAAC	-			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	AAAC	AAAC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr18:9256071_9256074delAAAC	ENST00000262126.4	+	9	3046_3049	c.2806_2809delAAAC	c.(2806-2811)aaacaafs	p.KQ936fs	ANKRD12_ENST00000383440.2_Frame_Shift_Del_p.KQ913fs|ANKRD12_ENST00000400020.3_Frame_Shift_Del_p.KQ913fs	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	936						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GAAAAAAAATAAACAATCAGATAA	0.309																																						dbGAP											0									,,	2,4226		1,0,2113					,,	-0.7	0.2			32	9,8193		4,1,4096	no	frameshift,frameshift,frameshift	ANKRD12	NM_015208.4,NM_001204056.1,NM_001083625.2	,,	5,1,6209	A1A1,A1R,RR		0.1097,0.0473,0.0885	,,	,,		11,12419				-	-	-	SO:0001589	frameshift_variant	0			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2806_2809delAAAC	18.37:g.9256071_9256074delAAAC	ENSP00000262126:p.Lys936fs		O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Frame_Shift_Del	DEL	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K936fs	ENST00000262126.4	37	c.2806_2809	CCDS11843.1	18																																																																																			ANKRD12	-	NULL	ENSG00000101745		0.309	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	HGNC	protein_coding	OTTHUMT00000254478.2	206	0.00	0	AAAC	NM_015208		9256071	9256074	+1	no_errors	ENST00000262126	ensembl	human	known	69_37n	frame_shift_del	324	31.65	150	DEL	0.913:0.899:0.061:0.032	-
BIRC8	112401	genome.wustl.edu	37	19	53793429	53793429	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr19:53793429T>C	ENST00000426466.1	-	1	1446	c.199A>G	c.(199-201)Aaa>Gaa	p.K67E		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	67					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AGCAGATATTTGCAACCTGGA	0.438																																						dbGAP											0													124.0	119.0	121.0					19																	53793429		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.199A>G	19.37:g.53793429T>C	ENSP00000412957:p.Lys67Glu		Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.K67E	ENST00000426466.1	37	c.199	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	T	0.005	-2.214721	0.00289	.	.	ENSG00000163098	ENST00000426466	T	0.71579	-0.58	0.502	-0.941	0.10402	Baculoviral inhibition of apoptosis protein repeat (5);	.	.	.	.	T	0.50718	0.1632	N	0.25426	0.745	0.09310	N	1	B	0.25007	0.116	B	0.35813	0.211	T	0.43702	-0.9375	9	0.02654	T	1	-2.9049	4.1465	0.10219	0.0:0.2757:0.0:0.7243	.	67	Q96P09	BIRC8_HUMAN	E	67	ENSP00000412957:K67E	ENSP00000412957:K67E	K	-	1	0	BIRC8	58485241	0.460000	0.25776	0.004000	0.12327	0.001000	0.01503	1.145000	0.31577	-0.425000	0.07371	-0.516000	0.04426	AAA	BIRC8	-	pfam_BIR,smart_BIR,pfscan_BIR	ENSG00000163098		0.438	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	164	0.00	0	T	NM_033341		53793429	53793429	-1	no_errors	ENST00000426466	ensembl	human	known	69_37n	missense	130	12.16	18	SNP	0.068	C
C12orf65	91574	genome.wustl.edu	37	12	123738230	123738230	+	Silent	SNP	C	C	T	rs201799222		TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr12:123738230C>T	ENST00000253233.1	+	2	653	c.9C>T	c.(7-9)acC>acT	p.T3T	C12orf65_ENST00000366329.2_Silent_p.T3T|C12orf65_ENST00000429587.2_Silent_p.T3T|RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	3					cell death (GO:0008219)	mitochondrion (GO:0005739)	translation release factor activity (GO:0003747)	p.T3T(1)		endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		TTATGAGCACCGTGGGTTTAT	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		18234	0.0		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - coding silent(1)	prostate(1)											88.0	82.0	84.0					12																	123738230		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095982	CCDS9244.1	12q24.31	2013-01-07			ENSG00000130921	ENSG00000130921			26784	protein-coding gene	gene with protein product		613541				20598281, 22688947, 23188110	Standard	NM_152269		Approved	FLJ38663, SPG55	uc001uen.3	Q9H3J6	OTTHUMG00000168852	ENST00000253233.1:c.9C>T	12.37:g.123738230C>T			Q8WUC6	Silent	SNP	pfam_Pep_chain_release_fac_I_II	p.T3	ENST00000253233.1	37	c.9	CCDS9244.1	12																																																																																			C12orf65	-	NULL	ENSG00000130921		0.512	C12orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf65	HGNC	protein_coding	OTTHUMT00000401375.1	103	0.00	0	C	NM_152269		123738230	123738230	+1	no_errors	ENST00000253233	ensembl	human	known	69_37n	silent	43	53.76	50	SNP	0.002	T
CAPN7	23473	genome.wustl.edu	37	3	15270481	15270481	+	Splice_Site	SNP	A	A	G			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr3:15270481A>G	ENST00000253693.2	+	8	1106	c.853A>G	c.(853-855)Aca>Gca	p.T285A		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	285	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				positive regulation of epithelial cell migration (GO:0010634)|self proteolysis (GO:0097264)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|endopeptidase activity (GO:0004175)|MIT domain binding (GO:0090541)			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						TTATTAACAGACAATAGTATC	0.338																																						dbGAP											0													128.0	130.0	129.0					3																	15270481		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB028639	CCDS2624.1	3p24	2008-07-18			ENSG00000131375	ENSG00000131375			1484	protein-coding gene	gene with protein product	"""calpain like protease"", ""homolog of Aspergillus Nidulans PALB"""	606400				8163008, 10051333	Standard	NM_014296		Approved	PalBH	uc003bzn.3	Q9Y6W3	OTTHUMG00000129863	ENST00000253693.2:c.853-1A>G	3.37:g.15270481A>G				Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_MIT,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_MIT,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.T285A	ENST00000253693.2	37	c.853	CCDS2624.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	27.2|27.2	4.811201|4.811201	0.90707|0.90707	.|.	.|.	ENSG00000131375|ENSG00000131375	ENST00000415565|ENST00000253693	.|D	.|0.87029	.|-2.2	5.82|5.82	5.82|5.82	0.92795|0.92795	.|Peptidase C2, calpain, catalytic domain (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94231|0.94231	0.8148|0.8148	M|M	0.88512|0.88512	2.96|2.96	0.80722|0.80722	D|D	1|1	.|D	.|0.62365	.|0.991	.|D	.|0.70227	.|0.968	D|D	0.94839|0.94839	0.8003|0.8003	5|9	.|.	.|.	.|.	-17.2431|-17.2431	15.8373|15.8373	0.78808|0.78808	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|285	.|Q9Y6W3	.|CAN7_HUMAN	G|A	6|285	.|ENSP00000253693:T285A	.|.	D|T	+|+	2|1	0|0	CAPN7|CAPN7	15245485|15245485	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.938000|0.938000	0.57974|0.57974	8.825000|8.825000	0.92029|0.92029	2.225000|2.225000	0.72522|0.72522	0.477000|0.477000	0.44152|0.44152	GAC|ACA	CAPN7	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000131375		0.338	CAPN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN7	HGNC	protein_coding	OTTHUMT00000252105.2	247	0.40	1	A	NM_014296	Missense_Mutation	15270481	15270481	+1	no_errors	ENST00000253693	ensembl	human	known	69_37n	missense	263	37.44	158	SNP	1.000	G
CASZ1	54897	genome.wustl.edu	37	1	10719985	10719985	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr1:10719985G>A	ENST00000377022.3	-	6	1431	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C	CASZ1_ENST00000344008.5_Missense_Mutation_p.R372C|CASZ1_ENST00000478728.2_5'Flank	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	372					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGAAGGGCGCCCCACCTTG	0.682																																						dbGAP											0													37.0	40.0	39.0					1																	10719985		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000328	CCDS120.2, CCDS41246.1	1p36.22	2013-01-07	2007-02-02		ENSG00000130940	ENSG00000130940		"""Zinc fingers, C2H2-type"""	26002	protein-coding gene	gene with protein product	"""zinc finger protein 693"", ""survival related gene"""	609895	"""castor homolog 1, zinc finger (Drosophila)"""			16631614, 21252912	Standard	NM_001079843		Approved	FLJ20321, ZNF693, castor, cst, SRG	uc001aro.4	Q86V15	OTTHUMG00000002035	ENST00000377022.3:c.1114C>T	1.37:g.10719985G>A	ENSP00000366221:p.Arg372Cys		Q078S9|Q2EN02|Q5T9S1|Q6ZNM8|Q8WX49|Q8WX50|Q9BT16|Q9NXC6	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R372C	ENST00000377022.3	37	c.1114	CCDS41246.1	1	.	.	.	.	.	.	.	.	.	.	g	21.3	4.132165	0.77662	.	.	ENSG00000130940	ENST00000377022;ENST00000344008	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	L	0.32530	0.975	0.50171	D	0.999855	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.994;0.996;0.996;0.997	T	0.72640	-0.4232	9	0.87932	D	0	-33.8849	17.8779	0.88830	0.0:0.0:1.0:0.0	.	396;372;372;372	B7Z1S3;B3KRV8;Q86V15-2;Q86V15	.;.;.;CASZ1_HUMAN	C	372	.	ENSP00000339445:R372C	R	-	1	0	CASZ1	10642572	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.763000	0.68818	2.310000	0.77875	0.486000	0.48141	CGC	CASZ1	-	NULL	ENSG00000130940		0.682	CASZ1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CASZ1	HGNC	protein_coding	OTTHUMT00000005673.2	45	0.00	0	G	NM_017766		10719985	10719985	-1	no_errors	ENST00000377022	ensembl	human	known	69_37n	missense	32	17.95	7	SNP	1.000	A
CSF1R	1436	genome.wustl.edu	37	5	149449828	149449828	+	Silent	SNP	G	G	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr5:149449828G>A	ENST00000286301.3	-	9	1527	c.1236C>T	c.(1234-1236)aaC>aaT	p.N412N		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	412	Ig-like C2-type 5.				cell proliferation (GO:0008283)|cell-cell junction maintenance (GO:0045217)|cellular response to cytokine stimulus (GO:0071345)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cytokine-mediated signaling pathway (GO:0019221)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|macrophage differentiation (GO:0030225)|mammary gland duct morphogenesis (GO:0060603)|monocyte differentiation (GO:0030224)|multicellular organismal development (GO:0007275)|osteoclast differentiation (GO:0030316)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of bone resorption (GO:0045124)|regulation of cell shape (GO:0008360)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|macrophage colony-stimulating factor receptor activity (GO:0005011)|protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCCAGAGCCGTTGATGAATG	0.582																																						dbGAP											0													100.0	93.0	95.0					5																	149449828		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U63963	CCDS4302.1	5q32	2013-01-11	2008-08-01		ENSG00000182578	ENSG00000182578		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	2433	protein-coding gene	gene with protein product		164770	"""McDonough feline sarcoma viral (v-fms) oncogene homolog"""	FMS		1611909	Standard	NM_005211		Approved	C-FMS, CSFR, CD115	uc003lrm.3	P07333	OTTHUMG00000130050	ENST00000286301.3:c.1236C>T	5.37:g.149449828G>A			B5A955|D3DQG2|Q6LDW5|Q6LDY4|Q86VW7	Silent	SNP	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.N412	ENST00000286301.3	37	c.1236	CCDS4302.1	5																																																																																			CSF1R	-	pirsf_Tyr_kinase_CSF1/PDGF_rcpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000182578		0.582	CSF1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSF1R	HGNC	protein_coding	OTTHUMT00000252329.2	110	0.90	1	G	NM_005211		149449828	149449828	-1	no_errors	ENST00000286301	ensembl	human	known	69_37n	silent	26	36.59	15	SNP	0.019	A
CSMD1	64478	genome.wustl.edu	37	8	2820779	2820779	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr8:2820779C>T	ENST00000520002.1	-	61	9977	c.9422G>A	c.(9421-9423)cGc>cAc	p.R3141H	CSMD1_ENST00000602557.1_Missense_Mutation_p.R3141H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R3140H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R2964H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R2964H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R2963H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3141	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		CCACACCCCGCGACCTTCACA	0.567																																						dbGAP											0													101.0	108.0	106.0					8																	2820779		1965	4142	6107	-	-	-	SO:0001583	missense	0					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9422G>A	8.37:g.2820779C>T	ENSP00000430733:p.Arg3141His		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R3141H	ENST00000520002.1	37	c.9422		8	.	.	.	.	.	.	.	.	.	.	C	9.252	1.041011	0.19669	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09	5.69	-8.57	0.00900	Complement control module (2);Sushi/SCR/CCP (3);	0.427481	0.23552	N	0.046952	T	0.39572	0.1083	N	0.22421	0.69	0.09310	N	0.999998	B;B;B	0.12013	0.002;0.002;0.005	B;B;B	0.10450	0.001;0.003;0.005	T	0.04347	-1.0958	10	0.62326	D	0.03	.	11.9651	0.53029	0.0:0.305:0.0876:0.6075	.	3141;3141;2963	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	H	2964;3141;3002;3140;2963	ENSP00000383047:R2964H;ENSP00000430733:R3141H;ENSP00000441462:R3140H;ENSP00000446243:R2963H	ENSP00000320445:R3002H	R	-	2	0	CSMD1	2808186	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.780000	0.04654	-2.436000	0.00553	-1.583000	0.00853	CGC	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000183117		0.567	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	127	0.78	1	C	NM_033225		2820779	2820779	-1	no_errors	ENST00000520002	ensembl	human	known	69_37n	missense	46	55.34	57	SNP	0.000	T
DCHS2	54798	genome.wustl.edu	37	4	155242003	155242003	+	Silent	SNP	C	C	T	rs556229617		TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr4:155242003C>T	ENST00000357232.4	-	14	3182	c.3183G>A	c.(3181-3183)gtG>gtA	p.V1061V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1061	Cadherin 9. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTACACTGATCACAATGAGCT	0.423																																						dbGAP											0													155.0	153.0	154.0					4																	155242003		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.3183G>A	4.37:g.155242003C>T			B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Silent	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V1061	ENST00000357232.4	37	c.3183	CCDS3785.1	4																																																																																			DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin	ENSG00000197410		0.423	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	357	0.00	0	C	NM_001142552		155242003	155242003	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	silent	534	12.03	73	SNP	0.980	T
DYNC1H1	1778	genome.wustl.edu	37	14	102467927	102467927	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr14:102467927G>C	ENST00000360184.4	+	21	4615	c.4451G>C	c.(4450-4452)tGc>tCc	p.C1484S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1484	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGAACAAGTGCCGCTTGATC	0.428																																						dbGAP											0													156.0	139.0	145.0					14																	102467927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.4451G>C	14.37:g.102467927G>C	ENSP00000348965:p.Cys1484Ser		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.C1484S	ENST00000360184.4	37	c.4451	CCDS9966.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.061074	0.93846	.	.	ENSG00000197102	ENST00000360184	T	0.60171	0.21	5.88	5.88	0.94601	Dynein heavy chain, domain-2 (1);	0.044995	0.85682	D	0.000000	T	0.76300	0.3968	M	0.88310	2.945	0.80722	D	1	P	0.52170	0.951	P	0.55749	0.783	T	0.73805	-0.3867	10	0.22109	T	0.4	.	20.2314	0.98350	0.0:0.0:1.0:0.0	.	1484	Q14204	DYHC1_HUMAN	S	1484	ENSP00000348965:C1484S	ENSP00000348965:C1484S	C	+	2	0	DYNC1H1	101537680	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.683000	0.98657	2.789000	0.95967	0.591000	0.81541	TGC	DYNC1H1	-	pfam_Dynein_heavy_dom-2	ENSG00000197102		0.428	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	106	0.00	0	G	NM_001376		102467927	102467927	+1	no_errors	ENST00000360184	ensembl	human	known	69_37n	missense	97	21.77	27	SNP	1.000	C
FUBP3	8939	genome.wustl.edu	37	9	133493263	133493263	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr9:133493263G>T	ENST00000319725.9	+	8	722	c.647G>T	c.(646-648)gGa>gTa	p.G216V		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	216	KH 2. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CGTATCACTGGAGATGCATTT	0.542																																						dbGAP											0													79.0	82.0	81.0					9																	133493263		2033	4185	6218	-	-	-	SO:0001583	missense	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.647G>T	9.37:g.133493263G>T	ENSP00000318177:p.Gly216Val		A3KFK8|A3KFL0|Q92946|Q9BVB6	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.G216V	ENST00000319725.9	37	c.647	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	G	24.5	4.543265	0.86022	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	D	0.83506	-1.73	5.63	5.63	0.86233	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.94971	0.8373	H	0.98155	4.16	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.96361	0.9266	10	0.87932	D	0	-16.5339	19.0349	0.92972	0.0:0.0:1.0:0.0	.	156;216;216	Q96I24-2;A3KFK8;Q96I24	.;.;FUBP3_HUMAN	V	203;216;156	ENSP00000318177:G216V	ENSP00000318177:G216V	G	+	2	0	FUBP3	132483084	1.000000	0.71417	0.999000	0.59377	0.733000	0.41908	9.813000	0.99286	2.815000	0.96918	0.561000	0.74099	GGA	FUBP3	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000107164		0.542	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	40	0.00	0	G			133493263	133493263	+1	no_errors	ENST00000319725	ensembl	human	known	69_37n	missense	11	70.27	26	SNP	1.000	T
FUBP3	8939	genome.wustl.edu	37	9	133498185	133498185	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr9:133498185C>T	ENST00000319725.9	+	10	937	c.862C>T	c.(862-864)Cag>Tag	p.Q288*		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	288	KH 3. {ECO:0000255|PROSITE- ProRule:PRU00117}.				positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGTGAGGATTCAGTTTAAACC	0.358																																						dbGAP											0													150.0	140.0	143.0					9																	133498185		1849	4083	5932	-	-	-	SO:0001587	stop_gained	0			U69127	CCDS43893.1	9q34.11	2008-02-05			ENSG00000107164	ENSG00000107164			4005	protein-coding gene	gene with protein product		603536		FBP3		8940189	Standard	NM_003934		Approved		uc004bzr.1	Q96I24	OTTHUMG00000020809	ENST00000319725.9:c.862C>T	9.37:g.133498185C>T	ENSP00000318177:p.Gln288*		A3KFK8|A3KFL0|Q92946|Q9BVB6	Nonsense_Mutation	SNP	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	p.Q288*	ENST00000319725.9	37	c.862	CCDS43893.1	9	.	.	.	.	.	.	.	.	.	.	C	40	8.501252	0.98838	.	.	ENSG00000107164	ENST00000358721;ENST00000319725;ENST00000372376	.	.	.	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	-14.3339	17.7602	0.88462	0.0:1.0:0.0:0.0	.	.	.	.	X	275;288;228	.	ENSP00000318177:Q288X	Q	+	1	0	FUBP3	132488006	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.763000	0.85283	2.504000	0.84457	0.555000	0.69702	CAG	FUBP3	-	pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1	ENSG00000107164		0.358	FUBP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FUBP3	HGNC	protein_coding	OTTHUMT00000054666.1	158	0.00	0	C			133498185	133498185	+1	no_errors	ENST00000319725	ensembl	human	known	69_37n	nonsense	67	45.53	56	SNP	1.000	T
GPR137C	283554	genome.wustl.edu	37	14	53098946	53098946	+	Silent	SNP	T	T	C			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr14:53098946T>C	ENST00000321662.6	+	4	786	c.786T>C	c.(784-786)tgT>tgC	p.C262C		NM_001099652.1	NP_001093122.1	Q8N3F9	G137C_HUMAN	G protein-coupled receptor 137C	262						integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8	Breast(41;0.0716)					CCAGAGCTTGTTATAATTTGG	0.378																																						dbGAP											0													159.0	157.0	158.0					14																	53098946		1878	4103	5981	-	-	-	SO:0001819	synonymous_variant	0			BX647179	CCDS45106.1	14q22.1	2012-08-10				ENSG00000180998			25445	protein-coding gene	gene with protein product							Standard	NM_001099652		Approved	DKFZp762F0713, TM7SF1L2	uc001wzu.4	Q8N3F9		ENST00000321662.6:c.786T>C	14.37:g.53098946T>C			Q86SM2	Missense_Mutation	SNP	NULL	p.V194A	ENST00000321662.6	37	c.581	CCDS45106.1	14	.	.	.	.	.	.	.	.	.	.	T	8.456	0.854186	0.17106	.	.	ENSG00000180998	ENST00000555622	.	.	.	5.4	3.05	0.35203	.	.	.	.	.	T	0.55545	0.1927	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.46965	-0.9153	4	.	.	.	-20.2793	7.1834	0.25786	0.0:0.3849:0.0:0.6151	.	.	.	.	A	194	.	.	V	+	2	0	GPR137C	52168696	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	0.977000	0.29475	0.450000	0.26774	0.482000	0.46254	GTT	GPR137C	-	NULL	ENSG00000180998		0.378	GPR137C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137C	HGNC	protein_coding	OTTHUMT00000411685.1	77	0.00	0	T	XM_290615		53098946	53098946	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000555622	ensembl	human	novel	69_37n	missense	33	67.31	70	SNP	1.000	C
HLA-B	3106	genome.wustl.edu	37	6	31324601	31324602	+	Frame_Shift_Ins	INS	-	-	A	rs41562914|rs41541416|rs9281379	byFrequency	TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr6:31324601_31324602insA	ENST00000412585.2	-	2	234_235	c.206_207insT	c.(205-207)gagfs	p.E69fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*30(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCGGCTCCTCTCTCGGACT	0.673									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				|||unknown(NO_COVERAGE)	34	0.00678914	0.0	0.0014	5008	,	,		7961	0.0188		0.0	False		,,,				2504	0.0143					dbGAP											2	Insertion - Frameshift(2)	large_intestine(2)								1399,160,2559		395,63,546,25,47,983						0.1	0.1		dbSNP_130	35	1793,477,5714		469,110,745,86,195,2387	no	codingComplex	HLA-B	NM_005514.6		864,173,1291,111,242,3370	A1A1,A1A2,A1R,A2A2,A2R,RR		28.4319,37.8582,31.6394				3192,637,8273				-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.206_207insT	6.37:g.31324601_31324602insA	ENSP00000399168:p.Glu69fs		Q29764	Frame_Shift_Ins	INS	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E69fs	ENST00000412585.2	37	c.207_206	CCDS34394.1	6																																																																																			HLA-B	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000234745		0.673	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-B	HGNC	protein_coding	OTTHUMT00000076280.4	16	0.00	0	-	NM_005514		31324601	31324602	-1	no_errors	ENST00000412585	ensembl	human	known	69_37n	frame_shift_ins	5	37.50	3	INS	0.090:0.000	A
MYEOV	26579	genome.wustl.edu	37	11	69063518	69063519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr11:69063518_69063519insA	ENST00000308946.3	+	3	1051_1052	c.601_602insA	c.(601-603)gtgfs	p.V201fs	MYEOV_ENST00000441339.2_Frame_Shift_Ins_p.V201fs|MYEOV_ENST00000535407.1_Frame_Shift_Ins_p.V143fs	NM_138768.2	NP_620123.2	Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	201								p.V201L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GCGAATGGATGTGGCTCTGCGC	0.604																																						dbGAP											1	Substitution - Missense(1)	lung(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AJ223366	CCDS8190.1, CCDS73340.1	11q13.2	2013-03-27	2013-03-27			ENSG00000172927			7563	protein-coding gene	gene with protein product		605625	"""myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas)"""			10753852	Standard	XM_005273908		Approved	OCIM	uc001oov.3	Q96EZ4		Exception_encountered	11.37:g.69063518_69063519insA	ENSP00000308330:p.Val201fs		Q9UGN6|Q9UGN7	Frame_Shift_Ins	INS	NULL	p.V201fs	ENST00000308946.3	37	c.601_602	CCDS8190.1	11																																																																																			MYEOV	-	NULL	ENSG00000172927		0.604	MYEOV-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MYEOV	HGNC	protein_coding	OTTHUMT00000396548.1	32	0.00	0	-			69063518	69063519	+1	no_errors	ENST00000308946	ensembl	human	known	69_37n	frame_shift_ins	38	39.68	25	INS	0.000:0.000	A
NEDD4L	23327	genome.wustl.edu	37	18	56033400	56033400	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr18:56033400T>A	ENST00000400345.3	+	21	2286	c.2003T>A	c.(2002-2004)tTc>tAc	p.F668Y	NEDD4L_ENST00000431212.2_Missense_Mutation_p.F547Y|NEDD4L_ENST00000256830.9_Missense_Mutation_p.F564Y|NEDD4L_ENST00000435432.2_Missense_Mutation_p.F527Y|NEDD4L_ENST00000456173.2_Missense_Mutation_p.F527Y|NEDD4L_ENST00000356462.6_Missense_Mutation_p.F604Y|NEDD4L_ENST00000382850.4_Missense_Mutation_p.F648Y|NEDD4L_ENST00000357895.5_Missense_Mutation_p.F660Y|NEDD4L_ENST00000256832.7_Missense_Mutation_p.F528Y|NEDD4L_ENST00000456986.1_Missense_Mutation_p.F547Y|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.F640Y	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	668	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AGAGAATGGTTCTTCTTACTG	0.473																																						dbGAP											0													111.0	104.0	106.0					18																	56033400		1889	4113	6002	-	-	-	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2003T>A	18.37:g.56033400T>A	ENSP00000383199:p.Phe668Tyr		O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.F668Y	ENST00000400345.3	37	c.2003	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	T	34	5.304077	0.95601	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.54	5.54	0.83059	HECT (3);	0.000000	0.85682	D	0.000000	T	0.65133	0.2662	L	0.53561	1.675	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;0.988;0.988;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;0.965;0.98;0.999;1.0	T	0.67914	-0.5547	10	0.87932	D	0	.	15.9755	0.80060	0.0:0.0:0.0:1.0	.	640;660;527;604;668;648	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	Y	668;648;604;564;528;547;660;527;527;547	ENSP00000383199:F668Y;ENSP00000372301:F648Y;ENSP00000348847:F604Y;ENSP00000256830:F564Y;ENSP00000256832:F528Y;ENSP00000411947:F547Y;ENSP00000350569:F660Y;ENSP00000393395:F527Y;ENSP00000405440:F527Y;ENSP00000389406:F547Y	ENSP00000256830:F564Y	F	+	2	0	NEDD4L	54184380	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.219000	0.72066	0.528000	0.53228	TTC	NEDD4L	-	superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000049759		0.473	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	62	0.00	0	T			56033400	56033400	+1	no_errors	ENST00000400345	ensembl	human	known	69_37n	missense	48	27.94	19	SNP	1.000	A
NEURL4	84461	genome.wustl.edu	37	17	7226882	7226882	+	Splice_Site	SNP	C	C	G			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr17:7226882C>G	ENST00000399464.2	-	14	2354	c.2339G>C	c.(2338-2340)gGa>gCa	p.G780A	NEURL4_ENST00000315614.7_Splice_Site_p.G780A|NEURL4_ENST00000570460.1_Splice_Site_p.G758A	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	780	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCAGTCACTCCTGGGAGGAG	0.567																																						dbGAP											0													102.0	114.0	110.0					17																	7226882		2123	4244	6367	-	-	-	SO:0001630	splice_region_variant	0				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2339-1G>C	17.37:g.7226882C>G			Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl,smart_Neu_Z,pfscan_Neu_Z	p.G780A	ENST00000399464.2	37	c.2339	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	C	21.6	4.176442	0.78564	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	D;D	0.97752	-1.74;-4.52	4.91	4.91	0.64330	NEUZ (3);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.93939	3.475	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.99410	1.0930	10	0.87932	D	0	.	17.0257	0.86446	0.0:1.0:0.0:0.0	.	780;780	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	A	780	ENSP00000319826:G780A;ENSP00000382390:G780A	ENSP00000319826:G780A	G	-	2	0	NEURL4	7167606	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	7.167000	0.77562	2.571000	0.86741	0.563000	0.77884	GGA	NEURL4	-	pfam_Neu_Z,superfamily_ConA-like_lec_gl,smart_Neu_Z,pfscan_Neu_Z	ENSG00000215041		0.567	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	26	0.00	0	C	NM_032442	Missense_Mutation	7226882	7226882	-1	no_errors	ENST00000399464	ensembl	human	known	69_37n	missense	1	85.71	6	SNP	1.000	G
NXT2	55916	genome.wustl.edu	37	X	108785738	108785738	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chrX:108785738C>G	ENST00000372106.1	+	4	381	c.250C>G	c.(250-252)Caa>Gaa	p.Q84E	NXT2_ENST00000372107.1_Missense_Mutation_p.Q56E|NXT2_ENST00000372103.1_Missense_Mutation_p.Q56E|NXT2_ENST00000218004.1_Missense_Mutation_p.Q139E	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	84	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						GGATGAAGAGCAAGCAACTCA	0.353																																						dbGAP											0													68.0	55.0	59.0					X																	108785738		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.250C>G	X.37:g.108785738C>G	ENSP00000361178:p.Gln84Glu		D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.Q139E	ENST00000372106.1	37	c.415	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	C	2.534	-0.307838	0.05458	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.45	4.58	0.56647	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.102986	0.64402	D	0.000002	T	0.41581	0.1165	N	0.25426	0.745	0.80722	D	1	B;B	0.18610	0.001;0.029	B;B	0.23018	0.013;0.043	T	0.24154	-1.0168	9	0.06757	T	0.87	.	13.7891	0.63128	0.0:0.9233:0.0:0.0767	.	84;139	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	E	139;56;84;56	.	ENSP00000218004:Q139E	Q	+	1	0	NXT2	108672394	1.000000	0.71417	1.000000	0.80357	0.643000	0.38383	5.778000	0.68940	1.348000	0.45733	0.600000	0.82982	CAA	NXT2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	ENSG00000101888		0.353	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	HGNC	protein_coding	OTTHUMT00000057886.1	249	0.00	0	C	NM_018698		108785738	108785738	+1	no_errors	ENST00000218004	ensembl	human	known	69_37n	missense	213	34.25	112	SNP	1.000	G
PALM2	114299	genome.wustl.edu	37	9	112694275	112694275	+	Intron	SNP	T	T	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr9:112694275T>A	ENST00000374531.2	+	6	474				PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.S155T|PALM2_ENST00000448454.2_Missense_Mutation_p.S157T|AKAP2_ENST00000555236.1_Missense_Mutation_p.S155T|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.S155T|PALM2_ENST00000483909.1_Intron|AKAP2_ENST00000510514.5_Missense_Mutation_p.S155T|PALM2_ENST00000314527.4_Missense_Mutation_p.S155T	NM_001037293.2	NP_001032370.1	Q8IXS6	PALM2_HUMAN	paralemmin 2						regulation of cell shape (GO:0008360)	plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGCAGAACCATCACCTGGGCA	0.517																																						dbGAP											0													122.0	117.0	119.0					9																	112694275		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ312216	CCDS35099.1, CCDS48002.1, CCDS48002.2	9q31.3	2009-10-16			ENSG00000243444	ENSG00000243444			15845	protein-coding gene	gene with protein product						11478809	Standard	NM_001037293		Approved			Q8IXS6	OTTHUMG00000020479	ENST00000374531.2:c.400+6913T>A	9.37:g.112694275T>A			A9Z1X9|Q8N9D5|Q96DU1	Missense_Mutation	SNP	pfam_Paralemmin,pfam_RII_binding_1	p.S155T	ENST00000374531.2	37	c.463	CCDS35099.1	9	.	.	.	.	.	.	.	.	.	.	T	11.18	1.562328	0.27915	.	.	ENSG00000243444;ENSG00000243444;ENSG00000243444;ENSG00000157654;ENSG00000157654;ENSG00000157654;ENSG00000241978;ENSG00000241978	ENST00000448454;ENST00000314527;ENST00000497711;ENST00000374530;ENST00000413420;ENST00000302798;ENST00000555236;ENST00000510514	T;T;T;T;T;T;T;T	0.30182	1.95;1.95;1.54;2.2;1.93;2.2;2.2;2.2	6.17	3.77	0.43336	.	0.833794	0.10171	N	0.707160	T	0.22437	0.0541	L	0.29908	0.895	0.23293	N	0.997962	P;P;B	0.41848	0.763;0.763;0.037	B;B;B	0.36608	0.229;0.229;0.062	T	0.10428	-1.0630	10	0.87932	D	0	-2.4729	8.3714	0.32417	0.1181:0.0:0.2716:0.6103	.	155;155;157	Q9Y2D5-6;Q9Y2D5-4;D3YTA4	.;.;.	T	157;155;141;155;155;155;155;155	ENSP00000400206:S157T;ENSP00000323805:S155T;ENSP00000419747:S141T;ENSP00000363654:S155T;ENSP00000397839:S155T;ENSP00000305861:S155T;ENSP00000451476:S155T;ENSP00000421522:S155T	ENSP00000305861:S155T	S	+	1	0	PALM2-AKAP2;PALM2;AKAP2	111734096	0.995000	0.38212	0.564000	0.28396	0.982000	0.71751	1.669000	0.37492	0.517000	0.28361	-0.301000	0.09380	TCA	PALM2-AKAP2	-	NULL	ENSG00000157654		0.517	PALM2-002	KNOWN	basic|CCDS	protein_coding	PALM2-AKAP2	HGNC	protein_coding	OTTHUMT00000053604.1	169	0.00	0	T	NM_001037293		112694275	112694275	+1	no_errors	ENST00000374530	ensembl	human	known	69_37n	missense	220	12.25	31	SNP	0.683	A
PCDHB12	56124	genome.wustl.edu	37	5	140590170	140590170	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr5:140590170C>T	ENST00000239450.2	+	1	1880	c.1691C>T	c.(1690-1692)cCg>cTg	p.P564L	PCDHB12_ENST00000541609.1_Missense_Mutation_p.P227L	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	564					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.P564L(1)|p.P564Q(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTGCTGTACCCGCTGCAGAAC	0.716																																						dbGAP											2	Substitution - Missense(2)	large_intestine(1)|lung(1)											17.0	22.0	21.0					5																	140590170		2187	4270	6457	-	-	-	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1691C>T	5.37:g.140590170C>T	ENSP00000239450:p.Pro564Leu		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.P564L	ENST00000239450.2	37	c.1691	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	20.5	3.999788	0.74818	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.60920	0.15;0.15	3.4	3.4	0.38934	Cadherin-like (1);	.	.	.	.	T	0.81138	0.4760	M	0.93939	3.475	0.51012	D	0.999903	D	0.89917	1.0	D	0.97110	1.0	D	0.87103	0.2180	9	0.87932	D	0	.	14.8086	0.69977	0.0:1.0:0.0:0.0	.	564	Q9Y5F1	PCDBC_HUMAN	L	227;564;184	ENSP00000440199:P227L;ENSP00000239450:P564L	ENSP00000239450:P564L	P	+	2	0	PCDHB12	140570354	0.000000	0.05858	0.993000	0.49108	0.978000	0.69477	0.244000	0.18124	1.626000	0.50381	0.479000	0.44913	CCG	PCDHB12	-	superfamily_Cadherin-like	ENSG00000120328		0.716	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2	25	0.00	0	C	NM_018932		140590170	140590170	+1	no_errors	ENST00000239450	ensembl	human	known	69_37n	missense	18	33.33	9	SNP	1.000	T
PDE9A	5152	genome.wustl.edu	37	21	44119099	44119099	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr21:44119099delT	ENST00000291539.6	+	4	300	c.240delT	c.(238-240)cctfs	p.P80fs	PDE9A_ENST00000328862.6_Frame_Shift_Del_p.P54fs|PDE9A_ENST00000398229.3_Intron|PDE9A_ENST00000398224.3_Frame_Shift_Del_p.P13fs|PDE9A_ENST00000335440.6_Frame_Shift_Del_p.C57fs|PDE9A_ENST00000398232.3_Frame_Shift_Del_p.P13fs|PDE9A_ENST00000380328.2_Frame_Shift_Del_p.C106fs|PDE9A_ENST00000335512.4_Frame_Shift_Del_p.P80fs|PDE9A_ENST00000349112.3_Frame_Shift_Del_p.C31fs|PDE9A_ENST00000398234.3_Frame_Shift_Del_p.P39fs|PDE9A_ENST00000539837.1_Intron|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Frame_Shift_Del_p.P39fs|PDE9A_ENST00000398227.3_Intron|PDE9A_ENST00000398236.3_Frame_Shift_Del_p.P54fs	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	80					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)	AAGTGAGACCTGTGGCCATCA	0.483																																						dbGAP											0													99.0	88.0	92.0					21																	44119099		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	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.240delT	21.37:g.44119099delT	ENSP00000291539:p.Pro80fs		B2RBI5|B4DFI5|D3DSJ8|D3DSJ9|O75490|O75491|O95225|Q53Y40|Q5QD39|Q86SF7|Q86SI6|Q86SJ3|Q86WN3|Q86WN4|Q86WN5|Q86WN6|Q86WN7|Q86WN8|Q86WN9|Q86WP0	Frame_Shift_Del	DEL	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase	p.V81fs	ENST00000291539.6	37	c.240	CCDS13690.1	21																																																																																			PDE9A	-	NULL	ENSG00000160191		0.483	PDE9A-016	KNOWN	basic|CCDS	protein_coding	PDE9A	HGNC	protein_coding	OTTHUMT00000195466.1	78	0.00	0	T			44119099	44119099	+1	no_errors	ENST00000291539	ensembl	human	known	69_37n	frame_shift_del	39	40.28	29	DEL	0.086	-
PKN1	5585	genome.wustl.edu	37	19	14569083	14569083	+	Silent	SNP	C	C	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr19:14569083C>A	ENST00000242783.6	+	9	1480	c.1315C>A	c.(1315-1317)Cgg>Agg	p.R439R	PKN1_ENST00000342216.4_Silent_p.R445R|CTC-548K16.6_ENST00000589702.1_RNA	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	439	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCGGGACCAGCGGGGCCTGTG	0.612																																					NSCLC(185;2539 2965 10733 52867)	dbGAP											0													63.0	71.0	69.0					19																	14569083		2050	4176	6226	-	-	-	SO:0001819	synonymous_variant	0			S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1315C>A	19.37:g.14569083C>A			A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.R445	ENST00000242783.6	37	c.1333	CCDS42513.1	19																																																																																			PKN1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB	ENSG00000123143		0.612	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKN1	HGNC	protein_coding	OTTHUMT00000095510.1	77	0.00	0	C	NM_002741, NM_213560		14569083	14569083	+1	no_errors	ENST00000342216	ensembl	human	known	69_37n	silent	33	58.75	47	SNP	1.000	A
PMEPA1	56937	genome.wustl.edu	37	20	56228121	56228121	+	Missense_Mutation	SNP	C	C	G			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr20:56228121C>G	ENST00000341744.3	-	3	605	c.286G>C	c.(286-288)Gag>Cag	p.E96Q	PMEPA1_ENST00000395816.3_Missense_Mutation_p.E46Q|PMEPA1_ENST00000265626.4_Missense_Mutation_p.E46Q|PMEPA1_ENST00000347215.4_Missense_Mutation_p.E61Q|PMEPA1_ENST00000395814.1_Missense_Mutation_p.E46Q	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	96					androgen receptor signaling pathway (GO:0030521)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|transforming growth factor beta receptor signaling pathway (GO:0007179)	early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	R-SMAD binding (GO:0070412)|WW domain binding (GO:0050699)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						ACTGTGCTCTCCGAGGGCCAC	0.632																																						dbGAP											0													114.0	69.0	84.0					20																	56228121		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF224278	CCDS13462.1, CCDS13463.1, CCDS13464.1	20q13.31-q13.33	2008-04-03	2008-04-03	2008-04-03	ENSG00000124225	ENSG00000124225			14107	protein-coding gene	gene with protein product	"""solid tumor-associated 1"""	606564	"""transmembrane, prostate androgen induced RNA"""	TMEPAI		10873380	Standard	NM_020182		Approved	STAG1	uc002xyq.4	Q969W9	OTTHUMG00000032831	ENST00000341744.3:c.286G>C	20.37:g.56228121C>G	ENSP00000345826:p.Glu96Gln		Q5TDR6|Q8NER4|Q96B72|Q9UJD3	Missense_Mutation	SNP	NULL	p.E96Q	ENST00000341744.3	37	c.286	CCDS13463.1	20	.	.	.	.	.	.	.	.	.	.	C	23.6	4.433585	0.83776	.	.	ENSG00000124225	ENST00000341744;ENST00000347215;ENST00000395816;ENST00000265626;ENST00000395814;ENST00000414037;ENST00000395819	T;T;T;T;T;T;T	0.48201	0.87;0.89;0.85;0.85;0.85;0.9;0.82	4.51	4.51	0.55191	.	0.168609	0.50627	N	0.000104	T	0.50650	0.1628	L	0.57536	1.79	0.52099	D	0.999942	B;P	0.46656	0.449;0.882	B;P	0.44359	0.329;0.447	T	0.58216	-0.7675	10	0.56958	D	0.05	-14.1401	16.852	0.85996	0.0:1.0:0.0:0.0	.	61;96	Q5JY37;Q969W9	.;PMEPA_HUMAN	Q	96;61;46;46;46;68;153	ENSP00000345826:E96Q;ENSP00000344014:E61Q;ENSP00000379161:E46Q;ENSP00000265626:E46Q;ENSP00000379159:E46Q;ENSP00000401506:E68Q;ENSP00000379164:E153Q	ENSP00000265626:E46Q	E	-	1	0	PMEPA1	55661527	1.000000	0.71417	0.880000	0.34516	0.820000	0.46376	6.525000	0.73795	2.055000	0.61198	0.655000	0.94253	GAG	PMEPA1	-	NULL	ENSG00000124225		0.632	PMEPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMEPA1	HGNC	protein_coding	OTTHUMT00000079858.2	8	0.00	0	C	NM_020182		56228121	56228121	-1	no_errors	ENST00000341744	ensembl	human	known	69_37n	missense	7	41.67	5	SNP	0.997	G
RGS7	6000	genome.wustl.edu	37	1	241094016	241094016	+	Splice_Site	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr1:241094016C>T	ENST00000407727.1	-	5	385		c.e5+1		RGS7_ENST00000446183.2_Splice_Site|RGS7_ENST00000366562.4_Splice_Site|RGS7_ENST00000401882.1_Intron|RGS7_ENST00000366563.1_Splice_Site|RGS7_ENST00000366565.1_Splice_Site|RGS7_ENST00000348120.2_Intron|RGS7_ENST00000366564.1_Splice_Site|RGS7_ENST00000331110.7_Splice_Site			P49802	RGS7_HUMAN	regulator of G-protein signaling 7						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite terminus (GO:0044292)|heterotrimeric G-protein complex (GO:0005834)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein beta-subunit binding (GO:0031681)|GTPase activator activity (GO:0005096)|signal transducer activity (GO:0004871)			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			ATGGCACTGACCATAATCTGT	0.368																																						dbGAP											0													133.0	148.0	143.0					1																	241094016		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC022009	CCDS31071.1, CCDS60457.1, CCDS60458.1, CCDS60459.1	1q43	2008-02-05	2007-08-14		ENSG00000182901	ENSG00000182901		"""Regulators of G-protein signaling"""	10003	protein-coding gene	gene with protein product		602517	"""regulator of G-protein signalling 7"""			8548815	Standard	XM_005273218		Approved		uc001hyv.2	P49802	OTTHUMG00000040107	ENST00000407727.1:c.385+1G>A	1.37:g.241094016C>T			Q5T3H4|Q8TD66|Q8TD67|Q8WW09|Q9UNU7|Q9Y6B9	Splice_Site	SNP	-	e5+1	ENST00000407727.1	37	c.385+1		1	.	.	.	.	.	.	.	.	.	.	C	26.6	4.749195	0.89753	.	.	ENSG00000182901	ENST00000331110;ENST00000366565;ENST00000366564;ENST00000366563;ENST00000446183;ENST00000366562;ENST00000407727	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.2744	0.87111	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RGS7	239160639	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.126000	0.77201	2.769000	0.95229	0.655000	0.94253	.	RGS7	-	-	ENSG00000182901		0.368	RGS7-204	KNOWN	basic	protein_coding	RGS7	HGNC	protein_coding		505	0.00	0	C	NM_002924	Intron	241094016	241094016	-1	no_errors	ENST00000407727	ensembl	human	known	69_37n	splice_site	346	34.47	182	SNP	1.000	T
SEPT2	4735	genome.wustl.edu	37	2	242276852	242276852	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr2:242276852G>A	ENST00000391973.2	+	6	925	c.397G>A	c.(397-399)Gag>Aag	p.E133K	SEPT2_ENST00000401990.1_Missense_Mutation_p.E143K|SEPT2_ENST00000391971.2_Missense_Mutation_p.E133K|SEPT2_ENST00000360051.3_Missense_Mutation_p.E133K|SEPT2_ENST00000402092.2_Missense_Mutation_p.E133K|SEPT2_ENST00000407971.1_Missense_Mutation_p.E93K	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	133	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		CCTGCATGACGAGAGCGGCTT	0.368																																						dbGAP											0													161.0	153.0	156.0					2																	242276852		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.397G>A	2.37:g.242276852G>A	ENSP00000375834:p.Glu133Lys		B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pirsf_Septin,prints_Septin2	p.E133K	ENST00000391973.2	37	c.397	CCDS2548.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.788256	0.90367	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000436795;ENST00000411484;ENST00000402092;ENST00000443492;ENST00000391972;ENST00000449239	T;T;T;T;T;T;T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09;0.09	5.07	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.82121	0.4968	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.996;0.999	D	0.87026	0.2132	10	0.87932	D	0	.	13.4707	0.61281	0.0752:0.0:0.9248:0.0	.	168;93;133	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	K	133;93;133;133;143;93;133;144;133;93;168;133	ENSP00000375834:E133K;ENSP00000397195:E93K;ENSP00000353157:E133K;ENSP00000375832:E133K;ENSP00000385109:E143K;ENSP00000384525:E93K;ENSP00000406181:E133K;ENSP00000394666:E144K;ENSP00000385172:E133K;ENSP00000399195:E93K;ENSP00000391717:E133K	ENSP00000353157:E133K	E	+	1	0	SEPT2	241925525	1.000000	0.71417	0.990000	0.47175	0.924000	0.55760	9.521000	0.98029	1.150000	0.42419	0.655000	0.94253	GAG	SEPT2	-	pfam_Cell_div_GTP-bd,pirsf_Septin	ENSG00000168385		0.368	SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT2	HGNC	protein_coding	OTTHUMT00000323177.3	482	0.00	0	G	NM_006155		242276852	242276852	+1	no_errors	ENST00000360051	ensembl	human	known	69_37n	missense	262	47.07	233	SNP	1.000	A
SLC13A3	64849	genome.wustl.edu	37	20	45188713	45188713	+	Missense_Mutation	SNP	T	T	C	rs201877988	byFrequency	TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr20:45188713T>C	ENST00000279027.4	-	13	1775	c.1757A>G	c.(1756-1758)aAt>aGt	p.N586S	SLC13A3_ENST00000413164.2_Missense_Mutation_p.N536S|SLC13A3_ENST00000290317.5_Missense_Mutation_p.N539S|SLC13A3_ENST00000495082.1_Missense_Mutation_p.N539S|SLC13A3_ENST00000472148.1_Missense_Mutation_p.N504S|SLC13A3_ENST00000396360.1_Missense_Mutation_p.N504S|SLC13A3_ENST00000435032.1_Missense_Mutation_p.N171S	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	586					transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	high-affinity sodium:dicarboxylate symporter activity (GO:0015362)			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGCTGTGACATTGACCGAGTA	0.567													T|||	2	0.000399361	0.0015	0.0	5008	,	,		21030	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													157.0	131.0	140.0					20																	45188713		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF154121	CCDS13400.1, CCDS42886.1, CCDS54469.1, CCDS54470.1	20q13.12	2013-05-22			ENSG00000158296	ENSG00000158296		"""Solute carriers"""	14430	protein-coding gene	gene with protein product		606411				10794676, 10992006	Standard	NM_001011554		Approved	NADC3, SDCT2	uc002xsf.2	Q8WWT9	OTTHUMG00000033042	ENST00000279027.4:c.1757A>G	20.37:g.45188713T>C	ENSP00000279027:p.Asn586Ser		B4DIR8|E1P5U4|F6WI18|Q5JYC9|Q5JYD0|Q5JYD1|Q5TCQ2|Q8IVB1|Q8N8K4|Q96MM5|Q9BR25|Q9H1G1|Q9H3W4|Q9NQN5|Q9NS04	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.N586S	ENST00000279027.4	37	c.1757	CCDS13400.1	20	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	T	13.03	2.115543	0.37339	.	.	ENSG00000158296	ENST00000290317;ENST00000396360;ENST00000435032;ENST00000279027;ENST00000472148;ENST00000413164;ENST00000495082	T;T;T;T;T;T;T	0.33865	3.79;3.79;1.39;4.05;3.79;3.5;3.79	4.66	4.66	0.58398	.	0.173457	0.49916	D	0.000136	T	0.24198	0.0586	N	0.20445	0.575	0.58432	D	0.999997	B;P;P;P;P;P	0.41475	0.41;0.714;0.751;0.63;0.636;0.496	B;B;B;B;B;B	0.40534	0.064;0.113;0.221;0.332;0.178;0.178	T	0.03608	-1.1020	10	0.15066	T	0.55	-14.3485	13.4381	0.61096	0.0:0.0:0.0:1.0	.	536;171;504;539;488;586	B4DIR8;B4E181;Q8WWT9-3;F6WI18;B4DF27;Q8WWT9	.;.;.;.;.;S13A3_HUMAN	S	539;504;171;586;504;536;539	ENSP00000290317:N539S;ENSP00000379648:N504S;ENSP00000403394:N171S;ENSP00000279027:N586S;ENSP00000420177:N504S;ENSP00000415852:N536S;ENSP00000419621:N539S	ENSP00000279027:N586S	N	-	2	0	SLC13A3	44622120	0.994000	0.37717	0.030000	0.17652	0.010000	0.07245	2.572000	0.45999	1.933000	0.56026	0.533000	0.62120	AAT	SLC13A3	-	NULL	ENSG00000158296		0.567	SLC13A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A3	HGNC	protein_coding	OTTHUMT00000080329.2	183	0.00	0	T			45188713	45188713	-1	no_errors	ENST00000279027	ensembl	human	known	69_37n	missense	104	34.78	56	SNP	0.261	C
SLC22A15	55356	genome.wustl.edu	37	1	116609327	116609327	+	Nonsense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr1:116609327C>T	ENST00000369503.4	+	11	1682	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*		NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	518					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GGACCCCCAACAGGTGTGATA	0.398																																						dbGAP											0													27.0	26.0	26.0					1																	116609327		1820	4085	5905	-	-	-	SO:0001587	stop_gained	0			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.1552C>T	1.37:g.116609327C>T	ENSP00000358515:p.Gln518*		A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Nonsense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Q518*	ENST00000369503.4	37	c.1552	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630594	0.87660	.	.	ENSG00000163393	ENST00000369503	.	.	.	5.7	5.7	0.88788	.	0.369517	0.25708	N	0.028834	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	18.007	0.89212	0.0:1.0:0.0:0.0	.	.	.	.	X	518	.	ENSP00000358515:Q518X	Q	+	1	0	SLC22A15	116410850	0.998000	0.40836	0.952000	0.39060	0.064000	0.16182	5.010000	0.64004	2.678000	0.91216	0.557000	0.71058	CAG	SLC22A15	-	NULL	ENSG00000163393		0.398	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	57	0.00	0	C	NM_018420		116609327	116609327	+1	no_errors	ENST00000369503	ensembl	human	known	69_37n	nonsense	50	19.35	12	SNP	0.994	T
SPANXN3	139067	genome.wustl.edu	37	X	142596806	142596806	+	Silent	SNP	G	G	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chrX:142596806G>A	ENST00000370503.2	-	2	347	c.264C>T	c.(262-264)ggC>ggT	p.G88G	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	88										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGTCTACGCCTTCGTCCT	0.428													g|||	1	0.000264901	0.0	0.0	3775	,	,		15029	0.0		0.001	False		,,,				2504	0.0					dbGAP											0													218.0	182.0	194.0					X																	142596806		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.264C>T	X.37:g.142596806G>A			Q0ZNK4	Silent	SNP	pfam_SPANX_prot	p.G88	ENST00000370503.2	37	c.264	CCDS35418.1	X																																																																																			SPANXN3	-	pfam_SPANX_prot	ENSG00000189252		0.428	SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN3	HGNC	protein_coding	OTTHUMT00000058620.2	2755	0.07	2	G	NM_001009609		142596806	142596806	-1	no_errors	ENST00000370503	ensembl	human	known	69_37n	silent	2420	43.19	1853	SNP	0.002	A
TEAD2	8463	genome.wustl.edu	37	19	49850472	49850473	+	Frame_Shift_Ins	INS	-	-	G	rs568692724		TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr19:49850472_49850473insG	ENST00000311227.2	-	9	973_974	c.883_884insC	c.(883-885)catfs	p.H295fs	TEAD2_ENST00000601519.1_Frame_Shift_Ins_p.H298fs|TEAD2_ENST00000539846.1_Frame_Shift_Ins_p.H167fs|TEAD2_ENST00000598397.1_5'Flank|TEAD2_ENST00000593945.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000598810.1_Frame_Shift_Ins_p.H299fs|TEAD2_ENST00000377214.4_Frame_Shift_Ins_p.H298fs	NM_001256659.1|NM_003598.1	NP_001243588.1|NP_003589.1	Q15562	TEAD2_HUMAN	TEA domain family member 2	295	Transcriptional activation. {ECO:0000255}.				gene expression (GO:0010467)|hippo signaling (GO:0035329)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.H295fs*12(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GAAGAAGGCATGGGGGGGGCCA	0.564																																						dbGAP											1	Deletion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			X94440	CCDS12761.1, CCDS58670.1, CCDS58671.1, CCDS59406.1	19q13.3	2008-07-22							11715	protein-coding gene	gene with protein product		601729				9889009, 8702974	Standard	NM_003598		Approved	TEF-4, ETF, TEF4	uc031rls.1	Q15562		ENST00000311227.2:c.884dupC	19.37:g.49850480_49850480dupG	ENSP00000310701:p.His295fs		B4DTJ6|M0R1T9|Q8NA25|Q96IG3	Frame_Shift_Ins	INS	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.H298fs	ENST00000311227.2	37	c.893_892	CCDS12761.1	19																																																																																			TEAD2	-	pfam_TEA/ATTS,pirsf_TEF	ENSG00000074219		0.564	TEAD2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TEAD2	HGNC	protein_coding	OTTHUMT00000465465.1	107	0.93	1	-	NM_003598		49850472	49850473	-1	no_errors	ENST00000377214	ensembl	human	known	69_37n	frame_shift_ins	98	10.09	11	INS	0.971:0.961	G
THBS3	7059	genome.wustl.edu	37	1	155169883	155169883	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr1:155169883T>A	ENST00000368378.3	-	15	1750	c.1730A>T	c.(1729-1731)aAt>aTt	p.N577I	THBS3_ENST00000541990.1_Missense_Mutation_p.N106I|THBS3_ENST00000541576.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000486260.1_5'Flank|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.N457I|RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	577					bone trabecula formation (GO:0060346)|cell-matrix adhesion (GO:0007160)|growth plate cartilage development (GO:0003417)|ossification involved in bone maturation (GO:0043931)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTTAGGGCAATTGTCCAATCC	0.502																																						dbGAP											0													121.0	110.0	114.0					1																	155169883		2203	4300	6503	-	-	-	SO:0001583	missense	0			L38969	CCDS1099.1, CCDS58034.1, CCDS72937.1	1q21	2008-02-05			ENSG00000169231	ENSG00000169231			11787	protein-coding gene	gene with protein product		188062				1601886	Standard	NM_007112		Approved		uc001fix.3	P49746	OTTHUMG00000035710	ENST00000368378.3:c.1730A>T	1.37:g.155169883T>A	ENSP00000357362:p.Asn577Ile		B1AVR8|B4DQ20|Q8WV34	Missense_Mutation	SNP	pfam_Thrombospondin_C,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.N577I	ENST00000368378.3	37	c.1730	CCDS1099.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	19.78|19.78	3.890410|3.890410	0.72524|0.72524	.|.	.|.	ENSG00000169231|ENSG00000169231	ENST00000428962|ENST00000368378;ENST00000457183;ENST00000541990	T|D;D;D	0.79940|0.99413	-1.32|-5.86;-5.86;-5.86	4.86|4.86	4.86|4.86	0.63082|0.63082	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.99625|0.99625	0.9863|0.9863	H|H	0.94306|0.94306	3.52|3.52	0.80722|0.80722	D|D	1|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;1.0;1.0	D|D	0.97833|0.97833	1.0264|1.0264	7|10	0.09843|0.87932	T|D	0.71|0	-23.8226|-23.8226	12.7213|12.7213	0.57144|0.57144	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|457;577;577;577	.|B4DQ20;Q53FK6;Q2HIZ0;P49746	.|.;.;.;TSP3_HUMAN	F|I	374|577;457;106	ENSP00000404040:I374F|ENSP00000357362:N577I;ENSP00000392207:N457I;ENSP00000437353:N106I	ENSP00000404040:I374F|ENSP00000357362:N577I	I|N	-|-	1|2	0|0	THBS3|THBS3	153436507|153436507	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.743000|7.743000	0.85020|0.85020	2.164000|2.164000	0.68074|0.68074	0.533000|0.533000	0.62120|0.62120	ATT|AAT	THBS3	-	pfam_Thrombospondin_3-like_rpt	ENSG00000169231		0.502	THBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THBS3	HGNC	protein_coding	OTTHUMT00000086856.1	71	0.00	0	T	NM_007112		155169883	155169883	-1	no_errors	ENST00000368378	ensembl	human	known	69_37n	missense	46	47.13	41	SNP	1.000	A
TIAF1	9220	genome.wustl.edu	37	17	27401124	27401124	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr17:27401124C>T	ENST00000359450.6	-	1	4751	c.94G>A	c.(94-96)Gag>Aag	p.E32K	MYO18A_ENST00000527372.1_3'UTR|MYO18A_ENST00000533112.1_3'UTR|MYO18A_ENST00000354329.4_3'UTR|MYO18A_ENST00000531253.1_3'UTR|MYO18A_ENST00000529578.1_5'UTR|TIAF1_ENST00000408971.2_Missense_Mutation_p.E32K	NM_004740.3	NP_004731.2	O95411	TIAF1_HUMAN	TGFB1-induced anti-apoptotic factor 1	32					apoptotic process (GO:0006915)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of apoptotic process (GO:0043066)	nucleus (GO:0005634)				kidney(1)|lung(1)|urinary_tract(1)	3	Lung NSC(42;0.015)		Epithelial(11;1.19e-05)|all cancers(11;6.57e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000153)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTCCGCACCTCATTCTTAAGA	0.607																																						dbGAP											0													59.0	57.0	57.0					17																	27401124		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF105277	CCDS32599.1	17q11.2	2006-08-07				ENSG00000221995			11803	protein-coding gene	gene with protein product		609517				9918798	Standard	NM_004740		Approved		uc002hdv.1	O95411		ENST00000359450.6:c.94G>A	17.37:g.27401124C>T	ENSP00000352424:p.Glu32Lys		A2RRE2|Q6PEG2	Missense_Mutation	SNP	NULL	p.E32K	ENST00000359450.6	37	c.94	CCDS32599.1	17	.	.	.	.	.	.	.	.	.	.	C	2.966	-0.213547	0.06140	.	.	ENSG00000221995	ENST00000408971;ENST00000511177	.	.	.	4.85	1.55	0.23275	.	.	.	.	.	T	0.22513	0.0543	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.06405	0.002	T	0.22138	-1.0225	8	0.87932	D	0	.	8.2044	0.31443	0.0:0.3394:0.5007:0.1599	.	32	O95411	TIAF1_HUMAN	K	32	.	ENSP00000386130:E32K	E	-	1	0	TIAF1	24425250	0.010000	0.17322	0.001000	0.08648	0.000000	0.00434	0.598000	0.24074	0.641000	0.30601	-1.291000	0.01355	GAG	TIAF1	-	NULL	ENSG00000221995		0.607	TIAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIAF1	HGNC	protein_coding	OTTHUMT00000372394.2	82	0.00	0	C	NM_004740		27401124	27401124	-1	no_errors	ENST00000359450	ensembl	human	known	69_37n	missense	69	41.53	49	SNP	0.000	T
TIGD4	201798	genome.wustl.edu	37	4	153690942	153690942	+	Silent	SNP	C	C	G			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr4:153690942C>G	ENST00000304337.2	-	2	2035	c.1215G>C	c.(1213-1215)ctG>ctC	p.L405L		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	405						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTCCTGCCCCCAGAGCATCAG	0.423																																						dbGAP											0													95.0	90.0	92.0					4																	153690942		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK058054	CCDS34079.1	4q31.23	2008-02-05							18335	protein-coding gene	gene with protein product							Standard	NM_145720		Approved		uc003imy.3	Q8IY51		ENST00000304337.2:c.1215G>C	4.37:g.153690942C>G			Q96LP5	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,pfam_Centromere_CenpB_dimerisation,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.L405	ENST00000304337.2	37	c.1215	CCDS34079.1	4																																																																																			TIGD4	-	NULL	ENSG00000169989		0.423	TIGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD4	HGNC	protein_coding	OTTHUMT00000365028.1	238	0.00	0	C	NM_145720		153690942	153690942	-1	no_errors	ENST00000304337	ensembl	human	known	69_37n	silent	127	46.64	111	SNP	0.002	G
TMEM143	55260	genome.wustl.edu	37	19	48845963	48845963	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr19:48845963G>A	ENST00000293261.3	-	6	1115	c.799C>T	c.(799-801)Ccg>Tcg	p.P267S	TMEM143_ENST00000377431.2_Missense_Mutation_p.P167S|TMEM143_ENST00000435956.3_Missense_Mutation_p.P232S|TMEM143_ENST00000436660.2_Missense_Mutation_p.P202S|TMEM143_ENST00000541566.1_Missense_Mutation_p.P157S	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	267					hematopoietic progenitor cell differentiation (GO:0002244)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		TTCAGCTCCGGCAGCAGCTGC	0.632																																						dbGAP											0													47.0	39.0	42.0					19																	48845963		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK129801	CCDS12716.1	19q13.32	2008-02-05				ENSG00000161558			25603	protein-coding gene	gene with protein product						12975309	Standard	NM_018273		Approved	FLJ10922	uc002pix.1	Q96AN5		ENST00000293261.3:c.799C>T	19.37:g.48845963G>A	ENSP00000293261:p.Pro267Ser		A8K656|Q6UXY4|Q9NV49	Missense_Mutation	SNP	pfam_DUF3754	p.P267S	ENST00000293261.3	37	c.799	CCDS12716.1	19	.	.	.	.	.	.	.	.	.	.	G	18.34	3.602374	0.66445	.	.	ENSG00000161558	ENST00000293261;ENST00000377431;ENST00000435956;ENST00000436660;ENST00000541566	D;D;D	0.90900	-2.75;-2.25;-2.46	4.63	4.63	0.57726	.	0.200321	0.33650	N	0.004686	D	0.93475	0.7918	L	0.47716	1.5	0.35665	D	0.812876	D;D;D;D	0.89917	1.0;1.0;0.997;1.0	D;D;D;D	0.97110	0.998;1.0;0.967;0.996	D	0.96183	0.9132	10	0.87932	D	0	-22.8849	16.6974	0.85339	0.0:0.0:1.0:0.0	.	202;167;232;267	B4DPF8;Q96AN5-2;B4DMT0;Q96AN5	.;.;.;TM143_HUMAN	S	267;167;232;202;157	ENSP00000293261:P267S;ENSP00000397038:P232S;ENSP00000444275:P157S	ENSP00000293261:P267S	P	-	1	0	TMEM143	53537775	1.000000	0.71417	0.997000	0.53966	0.966000	0.64601	5.839000	0.69395	2.301000	0.77427	0.456000	0.33151	CCG	TMEM143	-	pfam_DUF3754	ENSG00000161558		0.632	TMEM143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM143	HGNC	protein_coding	OTTHUMT00000465622.1	55	0.00	0	G	NM_018273		48845963	48845963	-1	no_errors	ENST00000293261	ensembl	human	known	69_37n	missense	21	46.15	18	SNP	1.000	A
UBFD1	56061	genome.wustl.edu	37	16	23573549	23573549	+	Missense_Mutation	SNP	A	A	G			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr16:23573549A>G	ENST00000395878.3	+	4	968	c.587A>G	c.(586-588)aAa>aGa	p.K196R	UBFD1_ENST00000567212.1_Missense_Mutation_p.K187R|UBFD1_ENST00000219638.4_Missense_Mutation_p.K420R|UBFD1_ENST00000571064.1_3'UTR	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	196							poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GTGTTGGATAAAGGAAAACCT	0.443																																					Melanoma(22;290 1069 22358 48158)	dbGAP											0													91.0	87.0	88.0					16																	23573549		1871	4110	5981	-	-	-	SO:0001583	missense	0			AK124139	CCDS10613.2	16p12.1	2008-11-05			ENSG00000103353	ENSG00000103353			30565	protein-coding gene	gene with protein product	"""ubiquitin-binding protein homolog"""					10493829	Standard	XM_006721064		Approved	FLJ42145, FLJ38870, UBPH	uc002dlv.3	O14562	OTTHUMG00000128855	ENST00000395878.3:c.587A>G	16.37:g.23573549A>G	ENSP00000379217:p.Lys196Arg		A8MW58|D3DWF2	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.K420R	ENST00000395878.3	37	c.1259	CCDS10613.2	16	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985033	0.74474	.	.	ENSG00000103353	ENST00000219638;ENST00000395878;ENST00000399462	.	.	.	5.69	5.69	0.88448	.	0.046679	0.85682	D	0.000000	T	0.61035	0.2315	M	0.62209	1.925	0.80722	D	1	B	0.27559	0.181	B	0.26864	0.074	T	0.60383	-0.7274	9	0.46703	T	0.11	-5.1802	15.1288	0.72503	1.0:0.0:0.0:0.0	.	196	O14562	UBFD1_HUMAN	R	420;196;73	.	ENSP00000219638:K420R	K	+	2	0	UBFD1	23481050	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.892000	0.92491	2.169000	0.68431	0.533000	0.62120	AAA	UBFD1	-	NULL	ENSG00000103353		0.443	UBFD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBFD1	HGNC	protein_coding	OTTHUMT00000250795.2	80	0.00	0	A	NM_019116		23573549	23573549	+1	no_errors	ENST00000219638	ensembl	human	known	69_37n	missense	73	43.85	57	SNP	1.000	G
ZNF419	79744	genome.wustl.edu	37	19	58005412	58005412	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr19:58005412C>T	ENST00000221735.7	+	5	1673	c.1487C>T	c.(1486-1488)tCc>tTc	p.S496F	ZNF419_ENST00000426954.2_Missense_Mutation_p.S484F|ZNF419_ENST00000415379.2_Missense_Mutation_p.S450F|AC003005.4_ENST00000601674.1_Intron|ZNF419_ENST00000347466.6_Missense_Mutation_p.S464F|ZNF419_ENST00000424930.2_Missense_Mutation_p.S497F|ZNF419_ENST00000354197.4_Missense_Mutation_p.S428F|ZNF419_ENST00000442920.2_Missense_Mutation_p.S483F			Q96HQ0	ZN419_HUMAN	zinc finger protein 419	496					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		CGCCACAACTCCAGTCTTTTT	0.423																																						dbGAP											0													77.0	82.0	80.0					19																	58005412		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK026886	CCDS42637.1, CCDS46211.1, CCDS54325.1, CCDS54326.1, CCDS54327.1, CCDS54328.1	19q13.43	2013-01-08	2006-12-15	2006-12-15	ENSG00000105136	ENSG00000105136		"""Zinc fingers, C2H2-type"", ""-"""	20648	protein-coding gene	gene with protein product			"""zinc finger protein 419A"""	ZNF419A			Standard	NM_001098492		Approved		uc010ety.1	Q96HQ0	OTTHUMG00000037073	ENST00000221735.7:c.1487C>T	19.37:g.58005412C>T	ENSP00000221735:p.Ser496Phe		B4DXU7|B4E348|B7ZA41|E9PCP4|E9PED0|E9PET3|E9PFX9|Q9H5P0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S497F	ENST00000221735.7	37	c.1490	CCDS54326.1	19	.	.	.	.	.	.	.	.	.	.	C	12.61	1.989867	0.35131	.	.	ENSG00000105136	ENST00000424930;ENST00000426954;ENST00000354197;ENST00000442920;ENST00000347466;ENST00000415379;ENST00000221735	T;T;T;T;T;T;T	0.62941	-0.01;-0.01;3.12;-0.01;-0.01;-0.01;-0.01	1.93	-0.614	0.11590	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.77948	0.4207	M	0.91510	3.215	0.09310	N	1	D;D;D;D;D;D;D	0.69078	0.995;0.995;0.99;0.995;0.995;0.997;0.995	P;P;D;P;P;D;P	0.69142	0.867;0.867;0.962;0.867;0.867;0.937;0.867	T	0.64249	-0.6452	9	0.62326	D	0.03	.	5.4966	0.16805	0.0:0.6408:0.2113:0.148	.	450;450;483;484;497;464;496	E9PFX9;B4DXU7;E9PCP4;E9PET3;E9PED0;Q96HQ0-2;Q96HQ0	.;.;.;.;.;.;ZN419_HUMAN	F	497;484;428;483;464;450;496	ENSP00000388864:S497F;ENSP00000390916:S484F;ENSP00000346136:S428F;ENSP00000414709:S483F;ENSP00000299860:S464F;ENSP00000392129:S450F;ENSP00000221735:S496F	ENSP00000221735:S496F	S	+	2	0	ZNF419	62697224	0.000000	0.05858	0.001000	0.08648	0.076000	0.17211	-0.252000	0.08806	0.073000	0.16731	0.205000	0.17691	TCC	ZNF419	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000105136		0.423	ZNF419-006	KNOWN	NAGNAG_splice_site|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	ZNF419	HGNC	protein_coding	OTTHUMT00000378506.1	317	0.00	0	C	NM_024691		58005412	58005412	+1	no_errors	ENST00000424930	ensembl	human	known	69_37n	missense	165	44.26	131	SNP	0.000	T
ZNF48	197407	genome.wustl.edu	37	16	30409119	30409119	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A09K-01A-11W-A019-09	TCGA-A8-A09K-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	d8cd75f2-5ee5-4296-a781-a6a16ee94506	065ce36f-67f9-44fe-b58e-a37d74eb2a35	g.chr16:30409119C>T	ENST00000320159.2	+	2	924	c.548C>T	c.(547-549)tCc>tTc	p.S183F	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	183					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						ATTCCTCGGTCCCGGATCCCT	0.607																																						dbGAP											0													33.0	39.0	37.0					16																	30409119		2197	4300	6497	-	-	-	SO:0001583	missense	0			M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.548C>T	16.37:g.30409119C>T	ENSP00000324056:p.Ser183Phe		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S183F	ENST00000320159.2	37	c.548	CCDS10679.1	16	.	.	.	.	.	.	.	.	.	.	C	10.49	1.363525	0.24684	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.08282	3.11	4.81	4.81	0.61882	.	0.959867	0.08495	N	0.937314	T	0.06416	0.0165	N	0.11560	0.145	0.09310	N	1	P	0.45348	0.856	B	0.40410	0.328	T	0.32161	-0.9917	10	0.87932	D	0	-10.9956	11.4413	0.50099	0.0:0.818:0.182:0.0	.	183	Q96MX3	ZNF48_HUMAN	F	308;183	ENSP00000324056:S183F	ENSP00000324056:S183F	S	+	2	0	ZNF48	30316620	0.000000	0.05858	0.079000	0.20413	0.843000	0.47879	0.490000	0.22403	2.637000	0.89404	0.563000	0.77884	TCC	ZNF48	-	NULL	ENSG00000180035		0.607	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF48	HGNC	protein_coding	OTTHUMT00000255549.2	40	0.00	0	C	NM_152652		30409119	30409119	+1	no_errors	ENST00000320159	ensembl	human	known	69_37n	missense	30	48.28	28	SNP	0.001	T
