#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_ENSG_ID	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_Ens_Gene	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	i_HGNC	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
KIF27	55582	genome.wustl.edu	37	9	86518547	86518547	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:86518547C>T	ENST00000297814.2	-	4	1029	c.886G>A	c.(886-888)Gct>Act	p.A296T	KIF27_ENST00000413982.1_Missense_Mutation_p.A296T|KIF27_ENST00000334204.2_Missense_Mutation_p.A296T	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	296	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cilium assembly (GO:0042384)|epithelial cilium movement (GO:0003351)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						GTAATTTTAGCATCCCTATAT	0.448																																																	0								ENSG00000165115						69.0	74.0	72.0					9																	86518547		2203	4300	6503	KIF27	SO:0001583	missense	0			-	HGNC	AY237536	CCDS6665.1, CCDS65071.1, CCDS65072.1	9q21.32	2008-03-03			ENSG00000165115	ENSG00000165115		"""Kinesins"""	18632	protein-coding gene	gene with protein product		611253					Standard	NM_017576		Approved	DKFZp434D0917	uc004ana.4	Q86VH2	OTTHUMG00000020109	ENST00000297814.2:c.886G>A	9.37:g.86518547C>T	ENSP00000297814:p.Ala296Thr	Somatic	0	35	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	15	48.28	B2RTR8|Q5T6W0|Q86VH0|Q86VH1|Q9UF54	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A296T	ENST00000297814.2	37	c.886	CCDS6665.1	9	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118946	0.77323	.	.	ENSG00000165115	ENST00000297814;ENST00000413982;ENST00000334204	T;T;T	0.74947	-0.89;-0.89;-0.89	5.66	3.72	0.42706	Kinesin, motor domain (4);	0.101606	0.41712	N	0.000838	T	0.62221	0.2410	N	0.03608	-0.345	0.44668	D	0.997654	P;P;P	0.46859	0.513;0.885;0.815	B;P;P	0.53266	0.147;0.61;0.722	T	0.69465	-0.5138	10	0.87932	D	0	.	10.1375	0.42715	0.1368:0.7926:0.0:0.0707	.	296;296;296	Q86VH2-3;Q86VH2-2;Q86VH2	.;.;KIF27_HUMAN	T	296	ENSP00000297814:A296T;ENSP00000401688:A296T;ENSP00000333928:A296T	ENSP00000297814:A296T	A	-	1	0	KIF27	85708367	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.914000	0.39966	1.387000	0.46486	0.655000	0.94253	GCT	-	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.448	KIF27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF27	protein_coding	OTTHUMT00000052861.1	C	NM_017576	-		86518547	-1	no_errors	ENST00000297814	ensembl	human	known	74_37	missense	SNP	1.000	T
TSKU	25987	genome.wustl.edu	37	11	76506673	76506675	+	In_Frame_Del	DEL	CTG	CTG	-	rs149062181		TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	CTG	CTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr11:76506673_76506675delCTG	ENST00000527881.1	+	2	1039_1041	c.13_15delCTG	c.(13-15)ctgdel	p.L9del	TSKU_ENST00000333090.4_In_Frame_Del_p.L9del			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	9					anterior commissure morphogenesis (GO:0021960)|ciliary body morphogenesis (GO:0061073)|corpus callosum morphogenesis (GO:0021540)|lateral ventricle development (GO:0021670)|negative regulation of Wnt signaling pathway (GO:0030178)|regulation of gene expression (GO:0010468)	extracellular space (GO:0005615)				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					GCCGTGGCCCCTGCTGCTGCTGC	0.616																																																	0								ENSG00000182704																																			TSKU	SO:0001651	inframe_deletion	0				HGNC	AK075476	CCDS8246.1	11q13.5	2012-12-05	2012-12-05	2006-11-21	ENSG00000182704	ENSG00000182704			28850	protein-coding gene	gene with protein product		608015	"""leucine rich repeat containing 54"", ""tsukushin"", ""tsukushi small leucine rich proteoglycan homolog (Xenopus laevis)"""	LRRC54		11085516, 19710929, 22880013	Standard	NM_001258210		Approved	E2IG4, TSK	uc031qcw.1	Q8WUA8		ENST00000527881.1:c.13_15delCTG	11.37:g.76506682_76506684delCTG	ENSP00000434847:p.Leu9del	Somatic	0	30	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	22	12.00	B3KQT7|Q6UXK1|Q9UG10|Q9UJX9	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L8in_frame_del	ENST00000527881.1	37	c.13_15	CCDS8246.1	11																																																																																			-	NULL		0.616	TSKU-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TSKU	protein_coding	OTTHUMT00000382871.1	CTG	NM_015516			76506675	+1	no_errors	ENST00000333090	ensembl	human	known	74_37	in_frame_del	DEL	0.997:1.000:0.997	-
CCAR2	57805	genome.wustl.edu	37	8	22472255	22472256	+	Intron	INS	-	-	TGCTGCCTTCATCCTGATGGGT	rs71299322|rs35416390|rs3830254	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr8:22472255_22472256insTGCTGCCTTCATCCTGATGGGT	ENST00000308511.4	+	11	1290				CCAR2_ENST00000520861.1_Intron|CCAR2_ENST00000389279.3_Intron|RP11-582J16.5_ENST00000521025.1_RNA			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										TCCCCACTTCCGGCTGCCTTCA	0.515														1990	0.397364	0.4599	0.3646	5008	,	,		23142	0.2768		0.3688	False		,,,				2504	0.4898																0								ENSG00000253200																																			RP11-582J16.5	SO:0001627	intron_variant	0				Clone_based_vega_gene	AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.1042-95->TGCTGCCTTCATCCTGATGGGT	8.37:g.22472255_22472256insTGCTGCCTTCATCCTGATGGGT		Somatic	NA	NA	NA		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000308511.4	37	NULL	CCDS34863.1	8																																																																																			-	-		0.515	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000253200	protein_coding	OTTHUMT00000375865.1	-	NM_021174			22472256	-1	no_errors	ENST00000521025	ensembl	human	known	74_37	rna	INS	0.000:0.000	TGCTGCCTTCATCCTGATGGGT
GPR128	84873	genome.wustl.edu	37	3	100364973	100364973	+	Intron	SNP	G	G	A			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr3:100364973G>A	ENST00000273352.3	+	9	1378				GPR128_ENST00000475887.1_Intron|SNORA31_ENST00000517180.1_RNA	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128						G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CATTGCAGATGCAAGAAAAAA	0.433																																					Pancreas(87;185 1975 7223 18722)												0								ENSG00000252989						58.0	57.0	57.0					3																	100364973		2203	4300	6503	SNORA31	SO:0001627	intron_variant	0			-	RFAM	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.1110+21G>A	3.37:g.100364973G>A		Somatic	0	60	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	15	21.05	Q14D94|Q86SQ2	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000273352.3	37	NULL	CCDS2938.1	3																																																																																			-	-		0.433	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000252989	protein_coding	OTTHUMT00000353236.1	G		-		100364973	+1	no_errors	ENST00000517180	ensembl	human	novel	74_37	rna	SNP	0.000	A
GNPTAB	79158	genome.wustl.edu	37	12	102190269	102190270	+	Intron	INS	-	-	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr12:102190269_102190270insT	ENST00000299314.7	-	2	466				RNU6-172P_ENST00000411000.1_RNA|GNPTAB_ENST00000549940.1_Intron|GNPTAB_ENST00000392919.4_Intron	NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits						carbohydrate phosphorylation (GO:0046835)|cell differentiation (GO:0030154)|lysosome organization (GO:0007040)|protein secretion (GO:0009306)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity (GO:0003976)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						tatcgttccagtttttttttcc	0.351																																																	0								ENSG00000222932																																			RNU6-172P	SO:0001627	intron_variant	0				HGNC	AY687932	CCDS9088.1	12q23.3	2013-01-10				ENSG00000111670		"""EF-hand domain containing"""	29670	protein-coding gene	gene with protein product		607840		GNPTA		10574462, 16116615	Standard	NM_024312		Approved	KIAA1208, MGC4170	uc001tit.3	Q3T906	OTTHUMG00000170444	ENST00000299314.7:c.203+184->A	12.37:g.102190278_102190278dupT		Somatic	0	13	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	7	30.00	A2RRQ9|Q3ZQK2|Q6IPW5|Q86TQ2|Q96N13|Q9ULL2	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000299314.7	37	NULL	CCDS9088.1	12																																																																																			-	-		0.351	GNPTAB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNU6-172P	protein_coding	OTTHUMT00000409182.1	-				102190270	-1	no_errors	ENST00000411000	ensembl	human	known	74_37	rna	INS	0.000:0.004	T
LINC01317	104355287	genome.wustl.edu	37	2	33952147	33952147	+	lincRNA	SNP	G	G	A			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr2:33952147G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							ACACCAGGTCGCCCACATAGG	0.577																																																	0								ENSG00000239649																																			MYADML			0			-	HGNC																													2.37:g.33952147G>A		Somatic	0	55	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	9.76		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			-	-		0.577	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	lincRNA	OTTHUMT00000325406.1	G		-		33952147	-1	no_errors	ENST00000474610	ensembl	human	known	74_37	rna	SNP	0.998	A
KANK3	256949	genome.wustl.edu	37	19	8398950	8398961	+	In_Frame_Del	DEL	TCGCTGTCGCCA	TCGCTGTCGCCA	-	rs111751275|rs199822445|rs201862465|rs6146458|rs200669927	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	TCGCTGTCGCCA	TCGCTGTCGCCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr19:8398950_8398961delTCGCTGTCGCCA	ENST00000593649.1	-	5	1532_1543	c.1467_1478delTGGCGACAGCGA	c.(1465-1479)gatggcgacagcgag>gag	p.DGDS489del	KANK3_ENST00000330915.3_In_Frame_Del_p.DGDS489del			Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	489								p.D489_S492delDGDS(2)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						GCCACCGTTCTCGCTGTCGCCATCGCTGTCGC	0.717														1760	0.351438	0.4085	0.428	5008	,	,		15278	0.2927		0.2962	False		,,,				2504	0.3374																2	Deletion - In frame(2)	large_intestine(1)|breast(1)						ENSG00000186994			958,2544		287,384,1080						-7.5	0.0		dbSNP_114	6	1402,5766		338,726,2520	no	coding	KANK3	NM_198471.2		625,1110,3600	A1A1,A1R,RR		19.5592,27.3558,22.1181				2360,8310				KANK3	SO:0001651	inframe_deletion	0				HGNC	AK128815	CCDS12199.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000186994		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	24796	protein-coding gene	gene with protein product		614611	"""ankyrin repeat domain 47"""	ANKRD47		17996375, 19554261	Standard	NM_198471		Approved	FLJ46061	uc010dwa.3	Q6NY19		ENST00000593649.1:c.1467_1478delTGGCGACAGCGA	19.37:g.8398950_8398961delTCGCTGTCGCCA	ENSP00000470728:p.Asp489_Ser492del	Somatic	NA	NA	NA		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q6NZI1|Q6ZQR3|Q8IUV2	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.DGDS489in_frame_del	ENST00000593649.1	37	c.1478_1467		19																																																																																			-	NULL		0.717	KANK3-002	KNOWN	basic	protein_coding	KANK3	protein_coding	OTTHUMT00000461379.1	TCGCTGTCGCCA	NM_198471			8398961	-1	no_errors	ENST00000593649	ensembl	human	known	74_37	in_frame_del	DEL	0.002:0.046:0.028:0.025:0.017:0.004:0.003:0.002:0.000:0.001:0.003:0.001	-
CCDC178	374864	genome.wustl.edu	37	18	30554563	30554563	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr18:30554563G>A	ENST00000383096.3	-	22	2653	c.2471C>T	c.(2470-2472)gCc>gTc	p.A824V	CCDC178_ENST00000579916.1_Missense_Mutation_p.A144V|CCDC178_ENST00000581852.1_Missense_Mutation_p.A29V|CCDC178_ENST00000403303.1_Missense_Mutation_p.A824V|CCDC178_ENST00000402325.1_Missense_Mutation_p.A774V|CCDC178_ENST00000583930.1_Missense_Mutation_p.A848V|CCDC178_ENST00000300227.8_Missense_Mutation_p.A786V|CCDC178_ENST00000579947.1_Missense_Mutation_p.A824V|CCDC178_ENST00000406524.2_Missense_Mutation_p.A848V			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	824																	CTGGAAGTTGGCCAGCCTCAT	0.488																																																	0								ENSG00000166960						69.0	64.0	65.0					18																	30554563		2203	4300	6503	CCDC178	SO:0001583	missense	0			-	HGNC	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2471C>T	18.37:g.30554563G>A	ENSP00000372576:p.Ala824Val	Somatic	0	25	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	15	25.00	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.A848V	ENST00000383096.3	37	c.2543	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	G	10.37	1.330827	0.24167	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.21543	2.16;2.16;2.19;2.0;2.08	5.73	3.73	0.42828	.	.	.	.	.	T	0.38983	0.1061	L	0.43152	1.355	0.33599	D	0.602148	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.74674	0.974;0.975;0.984;0.974;0.974;0.974	T	0.55554	-0.8123	9	0.66056	D	0.02	-1.1258	16.3019	0.82825	0.0:0.0:0.7475:0.2524	.	848;824;774;824;786;824	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	V	824;824;786;848;774	ENSP00000385591:A824V;ENSP00000372576:A824V;ENSP00000300227:A786V;ENSP00000385867:A848V;ENSP00000385234:A774V	ENSP00000300227:A786V	A	-	2	0	C18orf34	28808561	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.676000	0.61627	1.401000	0.46761	0.563000	0.77884	GCC	-	NULL		0.488	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC178	protein_coding	OTTHUMT00000255373.2	G	NM_198995	-		30554563	-1	no_errors	ENST00000406524	ensembl	human	known	74_37	missense	SNP	0.977	A
LRMP	4033	genome.wustl.edu	37	12	25188658	25188658	+	3'UTR	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr12:25188658G>T	ENST00000556485.1	+	0	261							Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein						immune system process (GO:0002376)|single fertilization (GO:0007338)|vesicle fusion (GO:0006906)|vesicle targeting (GO:0006903)	chromosome (GO:0005694)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ATCAGGAAATGCTGCTATTAC	0.443																																																	0								ENSG00000118308																																			LRMP	SO:0001624	3_prime_UTR_variant	0			-	HGNC		CCDS8701.1	12p12.1	2012-05-16			ENSG00000118308	ENSG00000118308			6690	protein-coding gene	gene with protein product		602003				8021504	Standard	NM_006152		Approved	JAW1	uc010sja.2	Q12912	OTTHUMG00000170192	ENST00000556485.1:c.*258G>T	12.37:g.25188658G>T		Somatic	0	28	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	28	12.50	A0AVM2|B4E077|Q8N301	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000556485.1	37	NULL		12																																																																																			-	-		0.443	LRMP-009	KNOWN	basic	processed_transcript	LRMP	protein_coding	OTTHUMT00000410498.1	G	NM_006152	-		25188658	+1	no_errors	ENST00000555165	ensembl	human	known	74_37	rna	SNP	0.000	T
FAM210A	125228	genome.wustl.edu	37	18	13682040	13682040	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr18:13682040C>T	ENST00000322247.3	-	3	424	c.37G>A	c.(37-39)Gca>Aca	p.A13T	FAM210A_ENST00000402563.1_Missense_Mutation_p.A13T|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	13						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											GTCCTGCGTGCCAGTCGAGAT	0.388																																																	0								ENSG00000177150						138.0	122.0	127.0					18																	13682040		2203	4300	6503	FAM210A	SO:0001583	missense	0			-	HGNC	AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.37G>A	18.37:g.13682040C>T	ENSP00000323635:p.Ala13Thr	Somatic	0	29	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	11	21.43	D3DUJ4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF1279	p.A13T	ENST00000322247.3	37	c.37	CCDS11866.1	18	.	.	.	.	.	.	.	.	.	.	C	11.63	1.695013	0.30052	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.51574	0.7;0.7	5.48	2.66	0.31614	.	0.222627	0.45867	N	0.000334	T	0.43500	0.1250	M	0.65975	2.015	0.30361	N	0.783826	B	0.16603	0.018	B	0.12156	0.007	T	0.45629	-0.9248	10	0.59425	D	0.04	-4.2081	8.5873	0.33666	0.0:0.7563:0.0:0.2437	.	13	Q96ND0	CR019_HUMAN	T	13	ENSP00000323635:A13T;ENSP00000386115:A13T	ENSP00000323635:A13T	A	-	1	0	C18orf19	13672040	1.000000	0.71417	0.712000	0.30502	0.070000	0.16714	0.793000	0.26944	0.257000	0.21650	0.655000	0.94253	GCA	-	NULL		0.388	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM210A	protein_coding	OTTHUMT00000254637.1	C	NM_152352	-		13682040	-1	no_errors	ENST00000322247	ensembl	human	known	74_37	missense	SNP	0.994	T
CERS3	204219	genome.wustl.edu	37	15	101088125	101088126	+	5'Flank	INS	-	-	T	rs532048470|rs574236631|rs111634080	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr15:101088125_101088126insT	ENST00000560944.1	-	0	0				RP11-526I2.5_ENST00000602585.1_lincRNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3						ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACATGCTACAGTTTTTTTTTTC	0.347													|||unknown(HR)	294	0.0587061	0.0204	0.1902	5008	,	,		16134	0.0437		0.0487	False		,,,				2504	0.0429																0								ENSG00000270127																																			RP11-526I2.5	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene		CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568		15.37:g.101088135_101088135dupT	Exception_encountered	Somatic	0	30	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	15	11.76	Q8NE64|Q8NEN6	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000560944.1	37	NULL		15																																																																																			-	-		0.347	CERS3-009	KNOWN	basic	processed_transcript	PRKXP1	protein_coding	OTTHUMT00000417720.1	-	NM_178842			101088126	-1	no_errors	ENST00000602585	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
UGCG	7357	genome.wustl.edu	37	9	114694384	114694385	+	Intron	DEL	AA	AA	-	rs542519537	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:114694384_114694385delAA	ENST00000374279.3	+	8	1274				MIR4668_ENST00000582284.1_RNA	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase						epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TATTTGAGGGAAAAAAAAAAGG	0.317																																																	0								ENSG00000266315																																			MIR4668	SO:0001627	intron_variant	0				HGNC	D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.825-65AA>-	9.37:g.114694392_114694393delAA		Somatic	0	21	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	18	10.00	Q5T258	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000374279.3	37	NULL	CCDS6782.1	9																																																																																			-	-		0.317	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR4668	protein_coding	OTTHUMT00000053661.1	AA	NM_003358			114694385	+1	no_errors	ENST00000582284	ensembl	human	known	74_37	rna	DEL	0.000:0.000	-
VAV2	7410	genome.wustl.edu	37	9	136726433	136726433	+	Intron	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:136726433G>T	ENST00000371850.3	-	3	412				VAV2_ENST00000406606.3_Intron|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371851.1_Intron	NM_001134398.1	NP_001127870.1	P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCTGTGACAAGGCACGCTGGT	0.582																																																	0								ENSG00000160293						84.0	86.0	85.0					9																	136726433		692	1591	2283	VAV2	SO:0001627	intron_variant	0			-	HGNC		CCDS6979.1, CCDS48053.1	9q34.1	2013-02-14	2007-07-25		ENSG00000160293	ENSG00000160293		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12658	protein-coding gene	gene with protein product		600428	"""vav 2 oncogene"""			7762982	Standard	NM_003371		Approved		uc004ces.3	P52735	OTTHUMG00000020882	ENST00000371850.3:c.380+62C>A	9.37:g.136726433G>T		Somatic	0	44	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	33	13.16	A2RUM4|A8MQ12|B6ZDF5|Q5SYV3|Q5SYV4|Q5SYV5|Q6N012|Q6PIJ9|Q6Q317	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000371850.3	37	NULL	CCDS48053.1	9																																																																																			-	-		0.582	VAV2-001	KNOWN	basic|CCDS	protein_coding	VAV2	protein_coding	OTTHUMT00000054939.1	G		-		136726433	-1	no_errors	ENST00000486113	ensembl	human	known	74_37	rna	SNP	0.021	T
NCOR2	9612	genome.wustl.edu	37	12	124827641	124827641	+	Silent	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr12:124827641G>T	ENST00000405201.1	-	33	4846	c.4846C>A	c.(4846-4848)Cgg>Agg	p.R1616R	NCOR2_ENST00000397355.1_Silent_p.R1607R|NCOR2_ENST00000404621.1_Silent_p.R1606R|NCOR2_ENST00000429285.2_Silent_p.R1606R|NCOR2_ENST00000356219.3_Silent_p.R1623R|NCOR2_ENST00000404121.2_Silent_p.R1177R			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1624					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CTCACGCCCCGAAGCAGGTGC	0.667																																																	0								ENSG00000196498						39.0	48.0	45.0					12																	124827641		2155	4248	6403	NCOR2	SO:0001819	synonymous_variant	0			-	HGNC	U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.4846C>A	12.37:g.124827641G>T		Somatic	0	42	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1623	ENST00000405201.1	37	c.4867	CCDS41858.2	12																																																																																			-	NULL		0.667	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	protein_coding	OTTHUMT00000318173.2	G	NM_006312	-		124827641	-1	no_errors	ENST00000356219	ensembl	human	known	74_37	silent	SNP	0.981	T
WISP3	8838	genome.wustl.edu	37	6	112375434	112375434	+	5'UTR	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr6:112375434G>T	ENST00000368666.2	+	0	160				WISP3_ENST00000361714.1_5'Flank|WISP3_ENST00000604763.1_Intron|WISP3_ENST00000230529.5_Intron|WISP3_ENST00000483439.1_3'UTR	NM_198239.1	NP_937882.1	O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3						cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTGGGAGGTAGAGGGTGTGTG	0.493																																																	0								ENSG00000112761																																			WISP3	SO:0001623	5_prime_UTR_variant	0			-	HGNC	AF100781	CCDS5097.1, CCDS5098.1	6q21	2014-05-06			ENSG00000112761	ENSG00000112761			12771	protein-coding gene	gene with protein product		603400				9843955	Standard	NM_003880		Approved	CCN6	uc003pvo.3	O95389	OTTHUMG00000185101	ENST00000368666.2:c.-127G>T	6.37:g.112375434G>T		Somatic	0	38	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	Q3KR29|Q5H8W4|Q6UXH6	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000368666.2	37	NULL	CCDS5098.1	6																																																																																			-	-		0.493	WISP3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	WISP3	protein_coding	OTTHUMT00000041873.2	G	NM_003880	-		112375434	+1	no_errors	ENST00000483439	ensembl	human	known	74_37	rna	SNP	0.996	T
CRABP2	1382	genome.wustl.edu	37	1	156670772	156670772	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr1:156670772delC	ENST00000368222.3	-	2	297	c.143delG	c.(142-144)ggafs	p.G48fs	CRABP2_ENST00000368221.1_Frame_Shift_Del_p.G48fs	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	48					epidermis development (GO:0008544)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|transporter activity (GO:0005215)			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)|Tretinoin(DB00755)	GAAAGTGTCTCCCTCCTGTTT	0.552																																																	0								ENSG00000143320						145.0	122.0	130.0					1																	156670772		2203	4300	6503	CRABP2	SO:0001589	frameshift_variant	0				HGNC	BC001109	CCDS1152.1	1q21.3	2013-03-01	2001-11-28		ENSG00000143320	ENSG00000143320		"""Fatty acid binding protein family"""	2339	protein-coding gene	gene with protein product		180231	"""cellular retinoic acid-binding protein 2"""			1654334	Standard	NM_001878		Approved	CRABP-II	uc001fpr.3	P29373	OTTHUMG00000041300	ENST00000368222.3:c.143delG	1.37:g.156670772delC	ENSP00000357205:p.Gly48fs	Somatic	0	16	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	8	38.46	B2R4Z8|D3DVC5|F1T098|Q6ICN6	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.G48fs	ENST00000368222.3	37	c.143	CCDS1152.1	1																																																																																			-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like		0.552	CRABP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRABP2	protein_coding	OTTHUMT00000098966.1	C	NM_001878			156670772	-1	no_errors	ENST00000368221	ensembl	human	known	74_37	frame_shift_del	DEL	0.696	-
MEG3	55384	genome.wustl.edu	37	14	101301191	101301191	+	RNA	SNP	G	G	C	rs544144032	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr14:101301191G>C	ENST00000554041.1	-	0	143																											TTTTTGAGAGGTGTGTGAGCA	0.577																																																	0								ENSG00000214548																																			MEG3			0			-	HGNC																													14.37:g.101301191G>C		Somatic	0	15	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	5	61.54		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			-	-		0.577	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	antisense	OTTHUMT00000414687.1	G		-		101301191	+1	no_errors	ENST00000398461	ensembl	human	known	74_37	rna	SNP	0.002	C
TBC1D3P3	653017	genome.wustl.edu	37	17	20451533	20451533	+	lincRNA	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr17:20451533G>T	ENST00000591705.1	+	0	2850																											AGTATTTTTTGGGGTGTTTTG	0.532																																																	0								ENSG00000267075																																			RP11-434D2.3			0			-	Clone_based_vega_gene																													17.37:g.20451533G>T		Somatic	0	32	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	18	18	50.00		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000591705.1	37	NULL		17																																																																																			-	-		0.532	RP11-434D2.3-001	KNOWN	basic	lincRNA	ENSG00000267075	lincRNA	OTTHUMT00000441761.2	G		-		20451533	+1	no_errors	ENST00000591705	ensembl	human	known	74_37	rna	SNP	0.947	T
FRMPD1	22844	genome.wustl.edu	37	9	37745028	37745028	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:37745028delC	ENST00000539465.1	+	16	3592	c.2999delC	c.(2998-3000)gccfs	p.A1000fs	FRMPD1_ENST00000377765.3_Frame_Shift_Del_p.A1000fs|RP11-613M10.9_ENST00000540557.1_Intron			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	1000						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GATGGGATTGCCCCCAAAGAA	0.547																																																	0								ENSG00000070601						93.0	92.0	92.0					9																	37745028		2203	4300	6503	FRMPD1	SO:0001589	frameshift_variant	0				HGNC	AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.2999delC	9.37:g.37745028delC	ENSP00000444411:p.Ala1000fs	Somatic	0	42	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	16	11.11	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.E1003fs	ENST00000539465.1	37	c.2999	CCDS6612.1	9																																																																																			-	NULL		0.547	FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FRMPD1	protein_coding	OTTHUMT00000402969.1	C	NM_014907			37745028	+1	no_errors	ENST00000377765	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
DZIP1	22873	genome.wustl.edu	37	13	96282277	96282277	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr13:96282277G>T	ENST00000376829.2	-	7	1627	c.776C>A	c.(775-777)gCt>gAt	p.A259D	DZIP1_ENST00000361396.2_Missense_Mutation_p.A259D|DZIP1_ENST00000361156.3_Missense_Mutation_p.A259D|DZIP1_ENST00000347108.3_Missense_Mutation_p.A259D	NM_198968.3	NP_945319.1	Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	259					cilium assembly (GO:0042384)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			ATGGTGTGCAGCCTCTAGCTC	0.443																																																	0								ENSG00000134874						103.0	81.0	89.0					13																	96282277		2203	4300	6503	DZIP1	SO:0001583	missense	0			-	HGNC	AB023213	CCDS9477.1, CCDS9478.1	13q32.1	2013-05-22	2013-05-22		ENSG00000134874	ENSG00000134874		"""Zinc fingers, C2H2-type"""	20908	protein-coding gene	gene with protein product		608671	"""DAZ interacting protein 1"""				Standard	NM_014934		Approved	KIAA0996, DZIP	uc001vmk.4	Q86YF9	OTTHUMG00000017224	ENST00000376829.2:c.776C>A	13.37:g.96282277G>T	ENSP00000366025:p.Ala259Asp	Somatic	0	40	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	28	9.68	Q5W078|Q5W079|Q8WY45|Q8WY46|Q9UGA5|Q9Y2K0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A259D	ENST00000376829.2	37	c.776	CCDS9478.1	13	.	.	.	.	.	.	.	.	.	.	G	14.38	2.517651	0.44763	.	.	ENSG00000134874	ENST00000347108;ENST00000361156;ENST00000361396;ENST00000376829	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.24	5.24	0.73138	.	0.312633	0.34802	N	0.003670	T	0.63674	0.2531	L	0.58428	1.81	0.28025	N	0.93436	P;D;D	0.58268	0.818;0.982;0.969	B;P;P	0.53722	0.314;0.733;0.546	T	0.60969	-0.7157	10	0.40728	T	0.16	-3.6831	12.4154	0.55490	0.0801:0.0:0.9199:0.0	.	259;259;259	Q05D25;Q86YF9-2;Q86YF9	.;.;DZIP1_HUMAN	D	259	ENSP00000257312:A259D;ENSP00000355018:A259D;ENSP00000355175:A259D;ENSP00000366025:A259D	ENSP00000257312:A259D	A	-	2	0	DZIP1	95080278	0.995000	0.38212	0.804000	0.32291	0.038000	0.13279	4.056000	0.57448	2.461000	0.83175	0.561000	0.74099	GCT	-	NULL		0.443	DZIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DZIP1	protein_coding	OTTHUMT00000045496.3	G	NM_014934	-		96282277	-1	no_errors	ENST00000347108	ensembl	human	known	74_37	missense	SNP	0.822	T
HSP90AA4P	3323	genome.wustl.edu	37	4	190395838	190395839	+	RNA	INS	-	-	A	rs70944383|rs550334233|rs77759523	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr4:190395838_190395839insA	ENST00000378770.1	+	0	830_831							Q58FG1	HS904_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 4, pseudogene						protein folding (GO:0006457)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)										aaaaacgaaacaaaaaaaaaaC	0.396													|||unknown(HR)	671	0.133986	0.1392	0.1369	5008	,	,		21828	0.0417		0.2326	False		,,,				2504	0.1186																0								ENSG00000205100																																			HSP90AA4P			0				HGNC			4q35.2	2011-04-15	2011-04-15	2006-02-24	ENSG00000205100	ENSG00000205100			5255	pseudogene	pseudogene			"""heat shock 90kD protein 1, alpha-like 2"", ""heat shock 90kDa protein 1, alpha-like 2"""	HSPCAL2		1740332, 16269234	Standard	NG_003014		Approved			Q58FG1	OTTHUMG00000160204		4.37:g.190395848_190395848dupA		Somatic	0	54	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000378770.1	37	NULL		4																																																																																			-	-		0.396	HSP90AA4P-002	KNOWN	basic	processed_transcript	HSP90AA4P	pseudogene	OTTHUMT00000359634.1	-	NG_003014			190395839	+1	no_errors	ENST00000378770	ensembl	human	known	74_37	rna	INS	0.000:0.000	A
SF3A1	10291	genome.wustl.edu	37	22	30736341	30736341	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr22:30736341G>T	ENST00000215793.8	-	9	1373	c.1219C>A	c.(1219-1221)Cca>Aca	p.P407T	SF3A1_ENST00000439242.1_Missense_Mutation_p.P342T	NM_005877.4	NP_005868.1	Q15459	SF3A1_HUMAN	splicing factor 3a, subunit 1, 120kDa	407					gene expression (GO:0010467)|mRNA 3'-splice site recognition (GO:0000389)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U2-type spliceosomal complex (GO:0005684)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						TACTCATCTGGAGCAGGGGCT	0.527																																																	0								ENSG00000099995						66.0	67.0	67.0					22																	30736341		2203	4300	6503	SF3A1	SO:0001583	missense	0			-	HGNC	X85237	CCDS13875.1	22q12.2	2014-09-17	2002-08-29		ENSG00000099995	ENSG00000099995			10765	protein-coding gene	gene with protein product		605595	"""splicing factor 3a, subunit 1, 120kD"""			7489498	Standard	NM_005877		Approved	SF3a120, SAP114, PRPF21, Prp21	uc003ahl.3	Q15459	OTTHUMG00000151005	ENST00000215793.8:c.1219C>A	22.37:g.30736341G>T	ENSP00000215793:p.Pro407Thr	Somatic	0	33	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	E9PAW1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup	p.P407T	ENST00000215793.8	37	c.1219	CCDS13875.1	22	.	.	.	.	.	.	.	.	.	.	G	13.41	2.229959	0.39399	.	.	ENSG00000099995	ENST00000439242;ENST00000215793;ENST00000536049;ENST00000444440	T;T	0.31510	1.49;1.51	6.07	6.07	0.98685	.	0.050006	0.85682	D	0.000000	T	0.20700	0.0498	N	0.13299	0.325	0.58432	D	0.999999	B	0.26708	0.157	B	0.28638	0.092	T	0.09058	-1.0692	10	0.15499	T	0.54	-12.6683	16.8423	0.85972	0.0:0.1281:0.8718:0.0	.	407	Q15459	SF3A1_HUMAN	T	342;407;304;103	ENSP00000390336:P342T;ENSP00000215793:P407T	ENSP00000215793:P407T	P	-	1	0	SF3A1	29066341	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.337000	0.65941	2.884000	0.98904	0.655000	0.94253	CCA	-	pfam_PRP21-like		0.527	SF3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3A1	protein_coding	OTTHUMT00000320916.2	G	NM_005877	-		30736341	-1	no_errors	ENST00000215793	ensembl	human	known	74_37	missense	SNP	1.000	T
IQUB	154865	genome.wustl.edu	37	7	123143075	123143075	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr7:123143075C>A	ENST00000466202.1	-	5	1366	c.790G>T	c.(790-792)Gag>Tag	p.E264*	IQUB_ENST00000434450.1_Nonsense_Mutation_p.E264*|IQUB_ENST00000324698.6_Nonsense_Mutation_p.E264*|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	264					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	acrosomal vesicle (GO:0001669)|motile cilium (GO:0031514)				breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TTGTGATACTCTACTCCTGTT	0.383																																																	0								ENSG00000164675						117.0	117.0	117.0					7																	123143075		2202	4300	6502	IQUB	SO:0001587	stop_gained	0			-	HGNC	AK093153	CCDS5787.1	7q31.32	2010-03-19			ENSG00000164675	ENSG00000164675			21995	protein-coding gene	gene with protein product							Standard	NM_178827		Approved	FLJ35834	uc003vko.3	Q8NA54	OTTHUMG00000157347	ENST00000466202.1:c.790G>T	7.37:g.123143075C>A	ENSP00000417769:p.Glu264*	Somatic	0	51	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	16	15.79	A4D0X0|Q49AL6|Q4G189|Q5BJD9|Q6NUH6|Q8N9Y2	Nonsense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup	p.E264*	ENST00000466202.1	37	c.790	CCDS5787.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.938942	0.97128	.	.	ENSG00000164675	ENST00000466202;ENST00000324698;ENST00000434450	.	.	.	5.31	5.31	0.75309	.	0.070422	0.56097	D	0.000033	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.3428	0.94350	0.0:1.0:0.0:0.0	.	.	.	.	X	264	.	ENSP00000324882:E264X	E	-	1	0	IQUB	122930311	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	5.951000	0.70273	2.637000	0.89404	0.655000	0.94253	GAG	-	NULL		0.383	IQUB-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	IQUB	protein_coding	OTTHUMT00000348529.1	C	NM_178827	-		123143075	-1	no_errors	ENST00000324698	ensembl	human	known	74_37	nonsense	SNP	1.000	A
RHBDF1	64285	genome.wustl.edu	37	16	110229	110229	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr16:110229G>T	ENST00000262316.6	-	13	1849	c.1707C>A	c.(1705-1707)gaC>gaA	p.D569E		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	569					cell migration (GO:0016477)|cell proliferation (GO:0008283)|negative regulation of protein secretion (GO:0050709)|protein transport (GO:0015031)|proteolysis (GO:0006508)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				ACTTGGTGATGTCTTCTGGCC	0.597																																																	0								ENSG00000007384						82.0	79.0	80.0					16																	110229		2203	4300	6503	RHBDF1	SO:0001583	missense	0			-	HGNC	BC014425	CCDS32344.1	16p13.3	2008-02-05	2006-02-22		ENSG00000007384	ENSG00000007384			20561	protein-coding gene	gene with protein product		614403	"""chromosome 16 open reading frame 8"", ""rhomboid family 1 (Drosophila)"""	C16orf8		8318735, 15965977	Standard	NM_022450		Approved	EGFR-RS, FLJ2235, Dist1	uc002cfl.4	Q96CC6	OTTHUMG00000060719	ENST00000262316.6:c.1707C>A	16.37:g.110229G>T	ENSP00000262316:p.Asp569Glu	Somatic	0	40	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	32	11.11	Q04842|Q1W6H2|Q4TT59|Q96S34|Q9H6E1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom	p.D569E	ENST00000262316.6	37	c.1707	CCDS32344.1	16	.	.	.	.	.	.	.	.	.	.	.	18.04	3.534705	0.64972	.	.	ENSG00000007384	ENST00000262316	T	0.60797	0.16	5.16	2.07	0.26955	.	0.000000	0.85682	D	0.000000	T	0.70815	0.3267	M	0.78344	2.41	0.80722	D	1	D	0.60160	0.987	P	0.60682	0.878	T	0.71550	-0.4559	10	0.87932	D	0	-35.7053	11.6631	0.51358	0.2244:0.0:0.7756:0.0	.	569	Q96CC6	RHDF1_HUMAN	E	569	ENSP00000262316:D569E	ENSP00000262316:D569E	D	-	3	2	RHBDF1	50229	1.000000	0.71417	0.998000	0.56505	0.966000	0.64601	4.676000	0.61627	-0.034000	0.13713	-0.797000	0.03246	GAC	-	NULL		0.597	RHBDF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHBDF1	protein_coding	OTTHUMT00000134178.2	G	NM_022450	-		110229	-1	no_errors	ENST00000262316	ensembl	human	known	74_37	missense	SNP	1.000	T
AXL	558	genome.wustl.edu	37	19	41754471	41754471	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr19:41754471G>T	ENST00000301178.4	+	13	1780	c.1590G>T	c.(1588-1590)atG>atT	p.M530I	AXL_ENST00000593513.1_Missense_Mutation_p.M262I|AXL_ENST00000359092.3_Missense_Mutation_p.M521I	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	530					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|cell maturation (GO:0048469)|cellular response to extracellular stimulus (GO:0031668)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interferon-alpha (GO:0035457)|cellular response to lipopolysaccharide (GO:0071222)|dendritic cell differentiation (GO:0097028)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte homeostasis (GO:0034101)|forebrain cell migration (GO:0021885)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|natural killer cell differentiation (GO:0001779)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of tumor necrosis factor production (GO:0032720)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of protein kinase B signaling (GO:0051897)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|phosphatidylserine binding (GO:0001786)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGGATGTGATGGTGGACCGGC	0.577																																																	0								ENSG00000167601						122.0	116.0	118.0					19																	41754471		2203	4300	6503	AXL	SO:0001583	missense	0			-	HGNC	M76125	CCDS12574.1, CCDS12575.1, CCDS62677.1	19q13.1	2013-02-11				ENSG00000167601	2.7.10.1	"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	905	protein-coding gene	gene with protein product		109135				1656220	Standard	NM_021913		Approved	UFO, JTK11	uc010ehj.3	P30530		ENST00000301178.4:c.1590G>T	19.37:g.41754471G>T	ENSP00000301178:p.Met530Ile	Somatic	0	33	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	18	14.29	Q8N5L2|Q9UD27	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M530I	ENST00000301178.4	37	c.1590	CCDS12575.1	19	.	.	.	.	.	.	.	.	.	.	G	28.4	4.913258	0.92178	.	.	ENSG00000167601	ENST00000301178;ENST00000359092	T;T	0.61274	0.12;0.12	4.76	4.76	0.60689	Protein kinase-like domain (1);	0.092869	0.64402	D	0.000001	T	0.71264	0.3319	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.79784	0.993;0.985	T	0.70241	-0.4926	10	0.38643	T	0.18	-36.6863	16.9023	0.86117	0.0:0.0:1.0:0.0	.	521;530	P30530-2;P30530	.;UFO_HUMAN	I	530;521	ENSP00000301178:M530I;ENSP00000351995:M521I	ENSP00000301178:M530I	M	+	3	0	AXL	46446311	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.929000	0.63455	2.354000	0.79902	0.561000	0.74099	ATG	-	superfamily_Kinase-like_dom		0.577	AXL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXL	protein_coding	OTTHUMT00000463323.2	G		-		41754471	+1	no_errors	ENST00000301178	ensembl	human	known	74_37	missense	SNP	1.000	T
ROM1	6094	genome.wustl.edu	37	11	62381084	62381084	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr11:62381084delG	ENST00000278833.3	+	1	872	c.331delG	c.(331-333)gggfs	p.G113fs	EML3_ENST00000394773.2_5'Flank|EML3_ENST00000494176.2_5'Flank|EML3_ENST00000529309.1_5'Flank|EML3_ENST00000278845.4_5'Flank|ROM1_ENST00000534093.1_Intron|EML3_ENST00000531557.1_5'Flank	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	113					camera-type eye photoreceptor cell differentiation (GO:0060219)|cell adhesion (GO:0007155)|regulation of gene expression (GO:0010468)|retina vasculature development in camera-type eye (GO:0061298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CACGGCTGGTGGGGGGGGGCT	0.677																																																	0								ENSG00000149489						14.0	17.0	16.0					11																	62381084		2193	4287	6480	ROM1	SO:0001589	frameshift_variant	0				HGNC	L07894	CCDS8024.1	11q13	2013-02-14				ENSG00000149489		"""Tetraspanins"""	10254	protein-coding gene	gene with protein product		180721				8504299	Standard	NM_000327		Approved	TSPAN23, ROM	uc001ntv.3	Q03395		ENST00000278833.3:c.331delG	11.37:g.62381084delG	ENSP00000278833:p.Gly113fs	Somatic	0	56	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2R978	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Peripherin/rom-1	p.L114fs	ENST00000278833.3	37	c.331	CCDS8024.1	11																																																																																			-	pfam_Tetraspanin/Peripherin,prints_Peripherin/rom-1		0.677	ROM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROM1	protein_coding	OTTHUMT00000394929.1	G	NM_000327			62381084	+1	no_errors	ENST00000278833	ensembl	human	known	74_37	frame_shift_del	DEL	0.023	-
FAM135A	57579	genome.wustl.edu	37	6	71234535	71234535	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr6:71234535C>T	ENST00000418814.2	+	15	2362	c.1748C>T	c.(1747-1749)aCt>aTt	p.T583I	FAM135A_ENST00000370479.3_Intron|FAM135A_ENST00000505769.1_Intron|FAM135A_ENST00000361499.3_Intron|FAM135A_ENST00000457062.2_Intron|FAM135A_ENST00000505868.1_Missense_Mutation_p.T583I	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	583										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ACAGAGAGAACTGAACAAAAG	0.388																																																	0								ENSG00000082269						59.0	57.0	58.0					6																	71234535		692	1591	2283	FAM135A	SO:0001583	missense	0			-	HGNC	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.1748C>T	6.37:g.71234535C>T	ENSP00000410768:p.Thr583Ile	Somatic	0	70	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	40	9.09	A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase	p.T583I	ENST00000418814.2	37	c.1748	CCDS55028.1	6	.	.	.	.	.	.	.	.	.	.	C	10.08	1.252043	0.22880	.	.	ENSG00000082269	ENST00000418814;ENST00000505868	T;T	0.19669	2.14;2.13	5.53	4.65	0.58169	.	0.344461	0.34906	N	0.003591	T	0.10078	0.0247	L	0.50333	1.59	0.80722	D	1	P	0.43477	0.808	B	0.39419	0.299	T	0.05370	-1.0889	10	0.35671	T	0.21	.	10.9388	0.47262	0.2541:0.6219:0.124:0.0	.	583	Q9P2D6	F135A_HUMAN	I	583	ENSP00000410768:T583I;ENSP00000423307:T583I	ENSP00000410768:T583I	T	+	2	0	FAM135A	71291256	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.938000	0.28965	1.446000	0.47643	0.561000	0.74099	ACT	-	NULL		0.388	FAM135A-001	KNOWN	basic|CCDS	protein_coding	FAM135A	protein_coding	OTTHUMT00000041137.2	C	NM_020819	-		71234535	+1	no_errors	ENST00000418814	ensembl	human	known	74_37	missense	SNP	1.000	T
EEF2	1938	genome.wustl.edu	37	19	3980914	3980914	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr19:3980914G>A	ENST00000309311.6	-	8	1163	c.1075C>T	c.(1075-1077)Ccc>Tcc	p.P359S	EEF2_ENST00000600720.1_5'Flank|SNORD37_ENST00000384048.1_RNA	NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	359	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ACAGGGGAGGGCAGGTGGATG	0.697																																					Colon(165;1804 1908 4071 6587 18799)												0								ENSG00000167658						18.0	15.0	16.0					19																	3980914		2188	4281	6469	EEF2	SO:0001583	missense	0			-	HGNC	Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1075C>T	19.37:g.3980914G>A	ENSP00000307940:p.Pro359Ser	Somatic	0	41	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	34	10.53	B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_B-barrel,superfamily_EFG_III-V,smart_Transl_elong_EFG/EF2_IV,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.P359S	ENST00000309311.6	37	c.1075	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.321263	0.95682	.	.	ENSG00000167658	ENST00000543343;ENST00000309311	D	0.88354	-2.37	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.96306	0.8795	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97067	0.9775	10	0.87932	D	0	-44.7602	18.7268	0.91717	0.0:0.0:1.0:0.0	.	359	P13639	EF2_HUMAN	S	359	ENSP00000307940:P359S	ENSP00000307940:P359S	P	-	1	0	EEF2	3931914	1.000000	0.71417	0.983000	0.44433	0.907000	0.53573	9.808000	0.99193	2.674000	0.91012	0.561000	0.74099	CCC	-	superfamily_P-loop_NTPase		0.697	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	protein_coding	OTTHUMT00000457615.2	G	NM_001961	-		3980914	-1	no_errors	ENST00000309311	ensembl	human	known	74_37	missense	SNP	1.000	A
AC007952.5	0	genome.wustl.edu	37	17	18997160	18997182	+	Stop_Codon_Del	DEL	GGGGTAAAGCCAGAGCCGGGCCC	GGGGTAAAGCCAGAGCCGGGCCC	-	rs199864345		TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	GGGGTAAAGCCAGAGCCGGGCCC	GGGGTAAAGCCAGAGCCGGGCCC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr17:18997160_18997182delGGGGTAAAGCCAGAGCCGGGCCC	ENST00000399091.1	+	0	716_738				AC007952.5_ENST00000443876.1_Intron|AC007952.5_ENST00000428928.1_Stop_Codon_Del|RP11-160E2.19_ENST00000583141.1_lincRNA|AC007952.5_ENST00000399093.1_Intron																							GGAGGGCTCTGGGGTAAAGCCAGAGCCGGGCCCGGGGAGAGCC	0.641																																																	0								ENSG00000228157																																			AC007952.5	SO:0001567	stop_retained_variant	0				Clone_based_vega_gene																												Exception_encountered	17.37:g.18997160_18997182delGGGGTAAAGCCAGAGCCGGGCCC		Somatic	NA	NA	NA		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.G167fs	ENST00000399091.1	37	c.498_504		17																																																																																			-	NULL		0.641	AC007952.5-002	NOVEL	not_best_in_genome_evidence|basic|appris_candidate	protein_coding	ENSG00000228157	protein_coding	OTTHUMT00000132165.1	GGGGTAAAGCCAGAGCCGGGCCC				18997182	+1	no_errors	ENST00000428928	ensembl	human	known	74_37	frame_shift_del	DEL	0.000:0.000:0.001:0.000:0.000:0.001:0.003	-
LINC00922	283867	genome.wustl.edu	37	16	65397135	65397135	+	lincRNA	SNP	T	T	G			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr16:65397135T>G	ENST00000569736.1	-	0	545				RP11-256I9.3_ENST00000562656.1_lincRNA	NR_027755.1				long intergenic non-protein coding RNA 922																		TGGCTGACAGTCATTGAACAC	0.403																																																	0								ENSG00000261742						106.0	101.0	103.0					16																	65397135		1894	4113	6007	LINC00922			0			-	HGNC	BC037902, BC104446		16q21	2013-05-24			ENSG00000261742	ENSG00000261742		"""Long non-coding RNAs"""	27545	non-coding RNA	RNA, long non-coding							Standard	NR_027755		Approved				OTTHUMG00000172812		16.37:g.65397135T>G		Somatic	0	69	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	39	29	57.35		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000569736.1	37	NULL		16																																																																																			-	-		0.403	LINC00922-001	KNOWN	basic	lincRNA	LINC00922	lincRNA	OTTHUMT00000420601.2	T	NR_027755	-		65397135	-1	no_errors	ENST00000564041	ensembl	human	known	74_37	rna	SNP	0.377	G
ATXN2	6311	genome.wustl.edu	37	12	112036781	112036785	+	Frame_Shift_Del	DEL	GTTGC	GTTGC	-	rs76696028		TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	GTTGC	GTTGC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr12:112036781_112036785delGTTGC	ENST00000377617.3	-	1	695_699	c.534_538delGCAAC	c.(532-540)cagcaacagfs	p.QQQ178fs	ATXN2_ENST00000535949.1_Intron|ATXN2_ENST00000549455.1_5'UTR|ATXN2_ENST00000608853.1_Frame_Shift_Del_p.QQQ18fs|ATXN2_ENST00000389153.4_5'Flank|ATXN2_ENST00000542287.2_Intron|ATXN2_ENST00000550104.1_Frame_Shift_Del_p.QQQ178fs|RP11-686G8.2_ENST00000547021.1_RNA	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	178	Poly-Gln.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						tgctgctgctgttgctgctgctgct	0.732																																																	0								ENSG00000204842																																			ATXN2	SO:0001589	frameshift_variant	0				HGNC	U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.534_538delGCAAC	12.37:g.112036781_112036785delGTTGC	ENSP00000366843:p.Gln178fs	Somatic	NA	NA	NA		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A6NLD4|Q6ZQZ7|Q99493	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.Q179fs	ENST00000377617.3	37	c.538_534	CCDS31902.1	12																																																																																			-	NULL		0.732	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	protein_coding	OTTHUMT00000257351.3	GTTGC	NM_002973			112036785	-1	no_errors	ENST00000377617	ensembl	human	known	74_37	frame_shift_del	DEL	0.009:0.008:0.017:0.025:0.032	-
MYO15A	51168	genome.wustl.edu	37	17	18045519	18045519	+	Missense_Mutation	SNP	C	C	T	rs539637895	byFrequency	TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr17:18045519C>T	ENST00000205890.5	+	24	6114	c.5776C>T	c.(5776-5778)Cgc>Tgc	p.R1926C		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1926	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCGCTCTCTGCGCCACAAGAT	0.597													C|||	3	0.000599042	0.0015	0.0	5008	,	,		19752	0.0		0.0	False		,,,				2504	0.001																0								ENSG00000091536						38.0	41.0	40.0					17																	18045519		2165	4278	6443	MYO15A	SO:0001583	missense	0			-	HGNC	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5776C>T	17.37:g.18045519C>T	ENSP00000205890:p.Arg1926Cys	Somatic	0	53	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	B4DFC7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.R1926C	ENST00000205890.5	37	c.5776	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	C	19.13	3.768705	0.69878	.	.	ENSG00000091536	ENST00000205890	D	0.95821	-3.82	5.69	5.69	0.88448	.	.	.	.	.	D	0.98160	0.9392	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98855	1.0760	9	0.87932	D	0	.	14.6164	0.68552	0.1458:0.8542:0.0:0.0	.	1926	Q9UKN7	MYO15_HUMAN	C	1926	ENSP00000205890:R1926C	ENSP00000205890:R1926C	R	+	1	0	MYO15A	17986244	0.996000	0.38824	0.968000	0.41197	0.905000	0.53344	2.303000	0.43646	2.690000	0.91761	0.655000	0.94253	CGC	-	superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.597	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	protein_coding	OTTHUMT00000132048.1	C	NM_016239	-		18045519	+1	no_errors	ENST00000205890	ensembl	human	known	74_37	missense	SNP	1.000	T
IGFN1	91156	genome.wustl.edu	37	1	201177421	201177421	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr1:201177421G>T	ENST00000335211.4	+	12	3530	c.3400G>T	c.(3400-3402)Ggg>Tgg	p.G1134W	IGFN1_ENST00000451870.2_Intron|IGFN1_ENST00000295591.8_5'UTR	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.					nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGGCCCTGGGGGCCTTTGG	0.587																																																	0								ENSG00000163395						4.0	4.0	4.0					1																	201177421		671	1555	2226	IGFN1	SO:0001583	missense	0			-	HGNC	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.3400G>T	1.37:g.201177421G>T	ENSP00000334714:p.Gly1134Trp	Somatic	0	24	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	22	15.38	F8WAI1|Q9NT72	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.G1134W	ENST00000335211.4	37	c.3400	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	15.75	2.925885	0.52759	.	.	ENSG00000163395	ENST00000335211	D	0.91792	-2.91	3.62	3.62	0.41486	.	.	.	.	.	D	0.84831	0.5559	N	0.08118	0	0.45477	D	0.998445	.	.	.	.	.	.	T	0.81883	-0.0728	6	.	.	.	.	13.6291	0.62186	0.0:0.0:1.0:0.0	.	.	.	.	W	1134	ENSP00000334714:G1134W	.	G	+	1	0	IGFN1	199444044	0.164000	0.22935	0.272000	0.24630	0.261000	0.26267	3.263000	0.51546	1.967000	0.57214	0.485000	0.47835	GGG	-	NULL		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	protein_coding		G	NM_178275	-		201177421	+1	no_errors	ENST00000335211	ensembl	human	known	74_37	missense	SNP	0.352	T
DLG4	1742	genome.wustl.edu	37	17	7096278	7096278	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr17:7096278C>T	ENST00000399506.2	-	17	2043	c.1852G>A	c.(1852-1854)Gag>Aag	p.E618K	DLG4_ENST00000399510.2_Missense_Mutation_p.E661K|DLG4_ENST00000302955.6_Missense_Mutation_p.E615K			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	618	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	TCTGCCACCTCTCGCACGGAC	0.607																																																	0								ENSG00000132535						40.0	42.0	41.0					17																	7096278		2019	4165	6184	DLG4	SO:0001583	missense	0			-	HGNC	U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1852G>A	17.37:g.7096278C>T	ENSP00000382425:p.Glu618Lys	Somatic	0	34	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	38	9.52	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like	p.E661K	ENST00000399506.2	37	c.1981		17	.	.	.	.	.	.	.	.	.	.	C	18.55	3.648838	0.67358	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.42900	0.96;0.96;0.96	4.2	4.2	0.49525	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	.	.	.	.	T	0.50154	0.1599	L	0.56769	1.78	0.48632	D	0.999681	P;P;P;B	0.41784	0.762;0.587;0.74;0.086	P;P;P;B	0.50825	0.651;0.572;0.495;0.108	T	0.42464	-0.9450	9	0.27785	T	0.31	.	14.0757	0.64889	0.0:1.0:0.0:0.0	.	658;618;615;661	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	K	618;615;661;661;558;661	ENSP00000382425:E618K;ENSP00000307471:E615K;ENSP00000382428:E661K	ENSP00000293813:E661K	E	-	1	0	DLG4	7037002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.637000	0.83313	2.181000	0.69327	0.643000	0.83706	GAG	-	pirsf_M-assoc_guanylate_kinase,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like		0.607	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	protein_coding	OTTHUMT00000259419.2	C	NM_001365	-		7096278	-1	no_errors	ENST00000399510	ensembl	human	known	74_37	missense	SNP	1.000	T
CNTLN	54875	genome.wustl.edu	37	9	17394809	17394809	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:17394809A>T	ENST00000380647.3	+	15	2441	c.2357A>T	c.(2356-2358)aAt>aTt	p.N786I	CNTLN_ENST00000262360.5_Missense_Mutation_p.N786I|CNTLN_ENST00000425824.1_Missense_Mutation_p.N786I			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	786					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCATTGAGAAATGAAAATGAA	0.423																																																	0								ENSG00000044459						87.0	88.0	88.0					9																	17394809		1963	4172	6135	CNTLN	SO:0001583	missense	0			-	HGNC	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.2357A>T	9.37:g.17394809A>T	ENSP00000370021:p.Asn786Ile	Somatic	0	40	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	18	37.93	A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	superfamily_Prefoldin	p.N786I	ENST00000380647.3	37	c.2357	CCDS43789.1	9	.	.	.	.	.	.	.	.	.	.	A	14.64	2.596227	0.46318	.	.	ENSG00000044459	ENST00000380647;ENST00000425824;ENST00000262360	T;T;T	0.18657	2.2;2.2;2.47	5.26	4.08	0.47627	.	.	.	.	.	T	0.28234	0.0697	L	0.51422	1.61	0.25367	N	0.988735	D;P;P	0.54964	0.969;0.899;0.899	P;P;P	0.51016	0.656;0.568;0.568	T	0.08534	-1.0717	9	0.66056	D	0.02	.	8.6695	0.34140	0.8467:0.0:0.1533:0.0	.	786;786;786	Q9NXG0;C9J1F9;Q9NXG0-2	CNTLN_HUMAN;.;.	I	786	ENSP00000370021:N786I;ENSP00000392798:N786I;ENSP00000262360:N786I	ENSP00000262360:N786I	N	+	2	0	CNTLN	17384809	0.999000	0.42202	1.000000	0.80357	0.993000	0.82548	2.145000	0.42207	0.891000	0.36235	0.528000	0.53228	AAT	-	NULL		0.423	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTLN	protein_coding	OTTHUMT00000051793.3	A	NM_017738	-		17394809	+1	no_errors	ENST00000380647	ensembl	human	known	74_37	missense	SNP	0.998	T
ABL1	25	genome.wustl.edu	37	9	133738153	133738156	+	Frame_Shift_Del	DEL	TACG	TACG	-			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	TACG	TACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr9:133738153_133738156delTACG	ENST00000318560.5	+	4	934_937	c.553_556delTACG	c.(553-558)tacgtcfs	p.YV185fs		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	ABL proto-oncogene 1, non-receptor tyrosine kinase	185	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				actin cytoskeleton organization (GO:0030036)|autophagy (GO:0006914)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to dopamine (GO:1903351)|cellular response to oxidative stress (GO:0034599)|DNA damage induced protein phosphorylation (GO:0006975)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mismatch repair (GO:0006298)|mitochondrial depolarization (GO:0051882)|mitotic nuclear division (GO:0007067)|muscle cell differentiation (GO:0042692)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|regulation of response to DNA damage stimulus (GO:2001020)|regulation of transcription, DNA-templated (GO:0006355)|response to oxidative stress (GO:0006979)|signal transduction in response to DNA damage (GO:0042770)	actin cytoskeleton (GO:0015629)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|mitogen-activated protein kinase binding (GO:0051019)|nicotinate-nucleotide adenylyltransferase activity (GO:0004515)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|proline-rich region binding (GO:0070064)|protein C-terminus binding (GO:0008022)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|SH3 domain binding (GO:0017124)|syntaxin binding (GO:0019905)	p.V186I(2)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Bosutinib(DB06616)|Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Ponatinib(DB08901)|Regorafenib(DB08896)	CCTTCAGCTCTACGTCTCCTCCGA	0.554			"""T, Mis"""	"""BCR, ETV6, NUP214"""	"""CML, ALL, T-ALL"""																																			Dom	yes		9	9q34.1	25	v-abl Abelson murine leukemia viral oncogene homolog 1		L	2	Substitution - Missense(2)	endometrium(2)						ENSG00000097007																																			ABL1	SO:0001589	frameshift_variant	0				HGNC	M14752	CCDS35165.1, CCDS35166.1	9q34.1	2014-09-17	2014-06-26		ENSG00000097007	ENSG00000097007		"""SH2 domain containing"""	76	protein-coding gene	gene with protein product		189980	"""v-abl Abelson murine leukemia viral oncogene homolog 1"", ""c-abl oncogene 1, receptor tyrosine kinase"", ""c-abl oncogene 1, non-receptor tyrosine kinase"""	ABL		1857987, 12626632	Standard	NM_007313		Approved	JTK7, c-ABL, p150	uc004bzv.3	P00519	OTTHUMG00000020813	ENST00000318560.5:c.553_556delTACG	9.37:g.133738153_133738156delTACG	ENSP00000323315:p.Tyr185fs	Somatic	0	22	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	11	47.62	A3KFJ3|Q13869|Q13870|Q16133|Q17R61|Q45F09	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.Y204fs	ENST00000318560.5	37	c.610_613	CCDS35166.1	9																																																																																			-	pfam_SH2,smart_SH2,pfscan_SH2		0.554	ABL1-001	KNOWN	basic|CCDS	protein_coding	ABL1	protein_coding	OTTHUMT00000054684.1	TACG	NM_007313			133738156	+1	no_errors	ENST00000372348	ensembl	human	known	74_37	frame_shift_del	DEL	1.000:1.000:1.000:1.000	-
MT-ND5	4540	genome.wustl.edu	37	M	13589	13589	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chrM:13589T>C	ENST00000361567.2	+	1	1253	c.1253T>C	c.(1252-1254)cTg>cCg	p.L418P	MT-TP_ENST00000387461.2_RNA|MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TH_ENST00000387441.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TS2_ENST00000387449.1_RNA|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	418					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CGCTACCTCCCTGACAAGCGC	0.458																																																	0								ENSG00000198786																																			MT-ND5	SO:0001583	missense	0			-	HGNC			mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.1253T>C	M.37:g.13589T>C	ENSP00000354813:p.Leu418Pro	Somatic	0	32	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	7	22.22	Q34773|Q8WCY3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.L418P	ENST00000361567.2	37	c.1253		MT																																																																																			-	tigrfam_NADHpl_OxRdtase_5		0.458	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	protein_coding		T	YP_003024036	-		13589	+1	no_errors	ENST00000361567	ensembl	human	known	74_37	missense	SNP	NULL	C
DDHD2	23259	genome.wustl.edu	37	8	38099572	38099572	+	Intron	DEL	A	A	-			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr8:38099572delA	ENST00000397166.2	+	7	1237				DDHD2_ENST00000528888.1_3'UTR|DDHD2_ENST00000520272.2_Intron	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2						cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|microtubule organizing center (GO:0005815)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			actccatctcaaaaaaaaaaa	0.413																																																	0								ENSG00000085788																																			DDHD2	SO:0001627	intron_variant	0				HGNC	AK056525	CCDS34883.1	8p11.23	2014-03-03	2004-04-05	2004-04-07				"""Sterile alpha motif (SAM) domain containing"""	29106	protein-coding gene	gene with protein product		615003	"""SAM, WWE and DDHD domain containing 1"""	SAMWD1		9872452, 11788596, 19632984, 20932832	Standard	NM_015214		Approved	KIAA0725, SPG54	uc003xlc.3	O94830		ENST00000397166.2:c.713-196A>-	8.37:g.38099572delA		Somatic	0	10	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	6	33.33	B3KWV2|B3KXB5|Q9H8X7	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000397166.2	37	NULL	CCDS34883.1	8																																																																																			-	-		0.413	DDHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDHD2	protein_coding	OTTHUMT00000377251.2	A	XM_291291			38099572	+1	no_errors	ENST00000528888	ensembl	human	known	74_37	rna	DEL	0.018	-
RPP38	10557	genome.wustl.edu	37	10	15145497	15145497	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr10:15145497G>T	ENST00000378197.4	+	3	698	c.184G>T	c.(184-186)Gat>Tat	p.D62Y	RPP38_ENST00000451677.1_Intron|RPP38_ENST00000378202.5_Missense_Mutation_p.D62Y|NMT2_ENST00000466201.1_5'UTR	NM_183005.4	NP_892117.1	P78345	RPP38_HUMAN	ribonuclease P/MRP 38kDa subunit	62					RNA phosphodiester bond hydrolysis (GO:0090501)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|tRNA processing (GO:0008033)	nucleolar ribonuclease P complex (GO:0005655)|nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)			breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)	8						GAAGATTGAAGATAAGAAGAA	0.408																																					GBM(118;1591 1611 9649 34378 50720)												0								ENSG00000152464						51.0	55.0	54.0					10																	15145497		2203	4300	6503	RPP38	SO:0001583	missense	0			-	HGNC	U77664	CCDS7108.1	10p13	2012-05-21			ENSG00000152464	ENSG00000152464			30329	protein-coding gene	gene with protein product		606116				9037013, 9630247	Standard	NM_183005		Approved		uc001inx.5	P78345	OTTHUMG00000017728	ENST00000378197.4:c.184G>T	10.37:g.15145497G>T	ENSP00000367439:p.Asp62Tyr	Somatic	0	33	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	14	22.22	B3KPY0|D3DRT8|Q53F71|Q8NHS8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.D62Y	ENST00000378197.4	37	c.184	CCDS7108.1	10	.	.	.	.	.	.	.	.	.	.	G	12.69	2.012294	0.35511	.	.	ENSG00000152464	ENST00000378203;ENST00000378201;ENST00000378202;ENST00000378197;ENST00000441850	T;T;T;T	0.23552	2.9;2.9;2.9;1.9	5.75	2.42	0.29668	.	0.551000	0.19378	N	0.115726	T	0.22126	0.0533	M	0.68317	2.08	0.09310	N	1	P	0.42409	0.779	B	0.36808	0.233	T	0.19614	-1.0300	10	0.59425	D	0.04	-19.7047	5.0591	0.14548	0.2553:0.3088:0.4359:0.0	.	62	P78345	RPP38_HUMAN	Y	62	ENSP00000367445:D62Y;ENSP00000367444:D62Y;ENSP00000367439:D62Y;ENSP00000402635:D62Y	ENSP00000367439:D62Y	D	+	1	0	RPP38	15185503	0.997000	0.39634	0.507000	0.27676	0.405000	0.30901	0.871000	0.28023	0.765000	0.33221	0.650000	0.86243	GAT	-	NULL		0.408	RPP38-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPP38	protein_coding	OTTHUMT00000046976.1	G	NM_006414	-		15145497	+1	no_errors	ENST00000378197	ensembl	human	known	74_37	missense	SNP	0.027	T
PTPRJ	5795	genome.wustl.edu	37	11	48142635	48142635	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB3C-01A-11D-A417-09	TCGA-DX-AB3C-10A-01D-A41A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7764d76b-a6eb-45bc-b804-abb1baebbbf4	4f3fe851-ad44-4399-88d5-eb4247f4e04b	g.chr11:48142635G>T	ENST00000418331.2	+	4	785	c.433G>T	c.(433-435)Gct>Tct	p.A145S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.A145S|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	145	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				contact inhibition (GO:0060242)|heart development (GO:0007507)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell receptor signaling pathway (GO:0050860)|negative regulation of vascular permeability (GO:0043116)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of cell adhesion (GO:0045785)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of cell adhesion (GO:0030155)|vasculogenesis (GO:0001570)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|mitogen-activated protein kinase binding (GO:0051019)|phosphatase activity (GO:0016791)|platelet-derived growth factor receptor binding (GO:0005161)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)	p.A145T(2)		breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TAATGACACAGCTGCTTCTGA	0.378																																																	2	Substitution - Missense(2)	endometrium(2)						ENSG00000149177						99.0	90.0	93.0					11																	48142635		2201	4298	6499	PTPRJ	SO:0001583	missense	0			-	HGNC	U10886	CCDS7945.1, CCDS44596.1	11p11.2	2013-02-11			ENSG00000149177	ENSG00000149177		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9673	protein-coding gene	gene with protein product		600925				7937872, 7994032	Standard	NM_001098503		Approved	DEP1, HPTPeta, CD148	uc001ngp.4	Q12913	OTTHUMG00000166573	ENST00000418331.2:c.433G>T	11.37:g.48142635G>T	ENSP00000400010:p.Ala145Ser	Somatic	0	56	0.00		0.5860942419602606	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	35	10.26	Q15255|Q6P4H4|Q8NHM2|Q9UDA9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.A145S	ENST00000418331.2	37	c.433	CCDS7945.1	11	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326923	0.60743	.	.	ENSG00000149177	ENST00000278456;ENST00000418331;ENST00000440289;ENST00000534219	T;T;T	0.56776	0.44;0.44;0.44	5.41	0.318	0.15867	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	T	0.49012	0.1532	N	0.20530	0.585	0.09310	N	1	D;D	0.69078	0.983;0.997	P;D	0.66084	0.755;0.941	T	0.40421	-0.9564	9	0.25751	T	0.34	.	6.7315	0.23385	0.0971:0.0:0.782:0.1208	.	145;145	Q12913;Q6P4H4	PTPRJ_HUMAN;.	S	145;145;145;66	ENSP00000400010:A145S;ENSP00000409733:A145S;ENSP00000432686:A66S	ENSP00000278456:A145S	A	+	1	0	PTPRJ	48099211	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.194000	0.09559	-0.189000	0.10482	0.591000	0.81541	GCT	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	PTPRJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRJ	protein_coding	OTTHUMT00000390525.1	G		-		48142635	+1	no_errors	ENST00000418331	ensembl	human	known	74_37	missense	SNP	0.001	T
