#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_CAF	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	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_normal_ref_reads	i_normal_ref_reads_val	i_normal_vaf	i_normal_vaf_val	i_normal_var_reads	i_normal_var_reads_val	i_reference	i_refseq_mrna_id	i_rsID	i_rsID_ref_var_alleles	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_tumor_ref_reads	i_tumor_ref_reads_val	i_tumor_vaf	i_tumor_vaf_val	i_tumor_var_reads	i_tumor_var_reads_val	i_type	i_ucsc_cons	i_variant
PABPC5	140886	genome.wustl.edu	37	X	90691713	90691713	+	Missense_Mutation	SNP	G	G	T			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chrX:90691713G>T	ENST00000312600.3	+	2	1351	c.1137G>T	c.(1135-1137)agG>agT	p.R379S	PABPC5_ENST00000373105.1_Missense_Mutation_p.R215S|PABPC5-AS1_ENST00000456187.1_RNA	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	379						mitochondrion (GO:0005739)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						GCCAGGCCAGGCGCAGGTGCT	0.498																																							0											0													19.0	18.0	19.0					X																	90691713		2200	4297	6497	SO:0001583	missense	0			AJ278963	CCDS14460.1	Xq21.3	2013-02-12	2001-11-28		ENSG00000174740	ENSG00000174740		"""RNA binding motif (RRM) containing"""	13629	protein-coding gene	gene with protein product		300407	"""poly(A)-binding protein, cytoplasmic 5"""			11374897	Standard	NM_080832		Approved	PABP5	uc004efg.3	Q96DU9	OTTHUMG00000021959	ENST00000312600.3:c.1137G>T	X.37:g.90691713G>T	ENSP00000308012:p.Arg379Ser		A8K240|Q5JQF4|Q6P529|Q9UFE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234	p.R379S	ENST00000312600.3	37	c.1137	CCDS14460.1	X	.	.	.	.	.	.	.	.	.	.	G	13.15	2.151363	0.38021	.	.	ENSG00000174740	ENST00000373105;ENST00000312600;ENST00000402906	T;T	0.25250	2.01;1.81	3.98	1.12	0.20585	.	0.051212	0.85682	D	0.000000	T	0.22282	0.0537	M	0.84156	2.68	0.31571	N	0.656302	P	0.36222	0.544	B	0.23150	0.044	T	0.24941	-1.0146	10	0.87932	D	0	.	3.6474	0.08189	0.2445:0.2041:0.5514:0.0	.	379	Q96DU9	PABP5_HUMAN	S	215;379;347	ENSP00000362197:R215S;ENSP00000308012:R379S	ENSP00000308012:R379S	R	+	3	2	PABPC5	90578369	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	2.736000	0.47385	0.098000	0.17522	0.544000	0.68410	AGG	0	tigrfam_PABP_1234		0.498	PABPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PABPC5	protein_coding	OTTHUMT00000057429.1	90	192	0	0.00	0	0	G	NM_080832	0	0		90691713	1	no_errors	ENST00000312600	ensembl	human	known	74_37	missense	36	158	40.98	31.30	25	72	SNP	0.99	T
AVPR2	554	genome.wustl.edu	37	X	153171714	153171714	+	Missense_Mutation	SNP	C	C	T	rs61733407|rs193922118	byFrequency	TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chrX:153171714C>T	ENST00000358927.2	+	3	963	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	AVPR2_ENST00000370049.1_Missense_Mutation_p.R252W|AVPR2_ENST00000337474.5_Missense_Mutation_p.R252W			P30518	V2R_HUMAN	arginine vasopressin receptor 2	252			R -> W (in dbSNP:rs61733407).		activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|excretion (GO:0007588)|hemostasis (GO:0007599)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-gamma production (GO:0032609)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of systemic arterial blood pressure (GO:0003084)|response to cytokine (GO:0034097)|telencephalon development (GO:0021537)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	vasopressin receptor activity (GO:0005000)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Desmopressin(DB00035)|Terlipressin(DB02638)|Tolvaptan(DB06212)|Vasopressin(DB00067)	CAGGGGACGCCGGACAGGCAG	0.657													C|||	23	0.00609272	0.0166	0.0014	3775	,	,		13119	0.0		0.0	False		,,,				2504	0.0						0											0								C	TRP/ARG,TRP/ARG	88,3747		0,65,23,1567,548	77.0	69.0	72.0		754,754	2.1	0.1	X	dbSNP_129	72	0,6728		0,0,0,2428,1872	yes	missense,missense	AVPR2	NM_000054.4,NM_001146151.1	101,101	0,65,23,3995,2420	TT,TC,T,CC,C		0.0,2.2947,0.8331	probably-damaging,probably-damaging	252/372,252/310	153171714	88,10475	2203	4300	6503	SO:0001583	missense	0			Z11687	CCDS14735.1, CCDS55539.1	Xq28	2014-09-17	2008-08-01		ENSG00000126895	ENSG00000126895		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	897	protein-coding gene	gene with protein product	"""nephrogenic diabetes insipidus"""	300538		DIR3, DIR		1324225	Standard	NM_000054		Approved	V2R	uc004fjh.4	P30518	OTTHUMG00000024227	ENST00000358927.2:c.754C>T	X.37:g.153171714C>T	ENSP00000351805:p.Arg252Trp		C5HF20|O43192|Q3MJD3|Q9UCV9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.R252W	ENST00000358927.2	37	c.754	CCDS14735.1	X	10	0.006027727546714889	9	0.018367346938775512	0	0.0	0	0.0	0	0.0	c	11.56	1.676442	0.29783	0.022947	0.0	ENSG00000126895	ENST00000358927;ENST00000430697;ENST00000337474;ENST00000370049	T;T;T;T	0.78707	-1.2;-0.96;-1.2;-0.61	4.13	2.07	0.26955	GPCR, rhodopsin-like superfamily (1);	1.368180	0.04734	N	0.421642	T	0.71651	0.3365	M	0.75777	2.31	0.37086	D	0.899212	D;P	0.60160	0.987;0.919	P;P	0.51453	0.663;0.67	T	0.70622	-0.4821	10	0.37606	T	0.19	-13.4909	7.9393	0.29948	0.1762:0.6535:0.1703:0.0	rs61733407	252;252	P30518-2;P30518	.;V2R_HUMAN	W	252	ENSP00000351805:R252W;ENSP00000393513:R252W;ENSP00000338072:R252W;ENSP00000359066:R252W	ENSP00000338072:R252W	R	+	1	2	AVPR2	152824908	0.064000	0.20934	0.056000	0.19401	0.032000	0.12392	1.303000	0.33470	0.636000	0.30508	0.263000	0.19301	CGG	0	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vprsn_rcpt_V2		0.657	AVPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVPR2	protein_coding	OTTHUMT00000061127.2	50	67	0	0.00	0	0	C		rs61733407	C->T		153171714	1	no_errors	ENST00000337474	ensembl	human	known	74_37	missense	6	34	53.85	28.57	7	14	SNP	0.706	T
ZCCHC11	23318	genome.wustl.edu	37	1	52929423	52929423	+	Intron	SNP	G	G	C			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr1:52929423G>C	ENST00000371544.3	-	16	3332				ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Intron	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11						cytokine production (GO:0001816)|miRNA catabolic process (GO:0010587)|miRNA metabolic process (GO:0010586)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|pre-miRNA processing (GO:0031054)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|RNA 3'-end processing (GO:0031123)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CCTGGAGCTTGGACAATCTCC	0.473																																							0											0																																										SO:0001627	intron_variant	0			D83776	CCDS30715.1, CCDS30716.1	1p32.3	2014-03-05			ENSG00000134744	ENSG00000134744		"""Zinc fingers, CCHC domain containing"""	28981	protein-coding gene	gene with protein product	"""TUTase4"""	613692				8724849, 12239557	Standard	NM_015269		Approved	KIAA0191, PAPD3, TUT4	uc001cty.2	Q5TAX3	OTTHUMG00000008200	ENST00000371544.3:c.3069+1318C>G	1.37:g.52929423G>C			A2RRP0|B7Z8J5|D3DQ35|Q12764|Q5TAX2|Q5TAX4|Q86XZ3	RNA	SNP	0	NULL	ENST00000371544.3	37	NULL	CCDS30716.1	1																																																																																			0	0		0.473	ZCCHC11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZCCHC11	protein_coding	OTTHUMT00000022462.1	91	334	0	0.60	0	2	G	XM_038288	0	0		52929423	-1	no_errors	ENST00000371541	ensembl	human	known	74_37	rna	46	209	45.35	32.14	39	99	SNP	0.012	C
TM2D1	83941	genome.wustl.edu	37	1	62190776	62190776	+	Missense_Mutation	SNP	G	G	C			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr1:62190776G>C	ENST00000606498.1	-	1	37	c.17C>G	c.(16-18)cCg>cGg	p.P6R	TM2D1_ENST00000371180.2_Missense_Mutation_p.P68R|TM2D1_ENST00000294613.5_Missense_Mutation_p.P6R|TM2D1_ENST00000371177.2_Missense_Mutation_p.P6R			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	6					apoptotic signaling pathway (GO:0097190)	integral component of plasma membrane (GO:0005887)	beta-amyloid binding (GO:0001540)|G-protein coupled receptor activity (GO:0004930)			large_intestine(2)|lung(3)|ovary(1)	6						CGGACCAGACGGCCAGGCGGC	0.662																																							0											0													35.0	42.0	40.0					1																	62190776		1913	4090	6003	SO:0001583	missense	0			AF353990	CCDS65554.1	1p32.1	2008-02-05			ENSG00000162604	ENSG00000162604			24142	protein-coding gene	gene with protein product		610080				11278849, 12553667	Standard	NM_032027		Approved	BBP	uc001czz.1	Q9BX74	OTTHUMG00000008466	ENST00000606498.1:c.17C>G	1.37:g.62190776G>C	ENSP00000475700:p.Pro6Arg		A6NDA8	Missense_Mutation	SNP	pfam_TM2	p.P68R	ENST00000606498.1	37	c.203		1	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089386	0.55968	.	.	ENSG00000162604	ENST00000371180;ENST00000294613;ENST00000371178;ENST00000371177	.	.	.	4.69	3.7	0.42460	.	1.025170	0.07796	N	0.955791	T	0.33235	0.0856	L	0.34521	1.04	0.09310	N	1	B	0.27498	0.18	B	0.19391	0.025	T	0.13415	-1.0510	9	0.72032	D	0.01	-1.8948	9.5646	0.39391	0.0:0.0:0.7907:0.2093	.	6	Q9BX74	TM2D1_HUMAN	R	68;6;6;6	.	ENSP00000294613:P6R	P	-	2	0	TM2D1	61963364	0.015000	0.18098	0.016000	0.15963	0.024000	0.10985	2.006000	0.40874	2.581000	0.87130	0.462000	0.41574	CCG	0	NULL		0.662	TM2D1-012	KNOWN	non_canonical_U12|basic|appris_principal	protein_coding	TM2D1	protein_coding	OTTHUMT00000470779.2	42	67	0	0.00	0	0	G	NM_032027	0	0		62190776	-1	no_errors	ENST00000371180	ensembl	human	known	74_37	missense	23	34	45.24	34.62	19	18	SNP	0.004	C
KIF3C	3797	genome.wustl.edu	37	2	26204457	26204457	+	Silent	SNP	G	G	C			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr2:26204457G>C	ENST00000264712.3	-	1	909	c.330C>G	c.(328-330)acC>acG	p.T110T	KIF3C_ENST00000405914.1_Silent_p.T110T	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	110	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.			TW -> DL (in Ref. 1; AAC05302). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTCCACCCAGGTCCCCTGCA	0.617																																							0											0													76.0	70.0	72.0					2																	26204457		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.330C>G	2.37:g.26204457G>C			O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.T110	ENST00000264712.3	37	c.330	CCDS1719.1	2																																																																																			0	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.617	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	protein_coding	OTTHUMT00000211611.1	57	230	0	0.43	0	1	G		0	0		26204457	-1	no_errors	ENST00000264712	ensembl	human	known	74_37	silent	25	96	44.44	40.37	20	65	SNP	1	C
NRXN1	9378	genome.wustl.edu	37	2	50847200	50847200	+	Missense_Mutation	SNP	C	C	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr2:50847200C>A	ENST00000406316.2	-	8	2756	c.1280G>T	c.(1279-1281)gGg>gTg	p.G427V	NRXN1_ENST00000404971.1_Missense_Mutation_p.G467V|NRXN1_ENST00000405472.3_Missense_Mutation_p.G419V|NRXN1_ENST00000406859.3_Missense_Mutation_p.G427V|NRXN1_ENST00000402717.3_Missense_Mutation_p.G419V|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000401669.2_Missense_Mutation_p.G427V	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	427	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACTGGTGACCCTGGAAGGTC	0.458																																							0											0													63.0	63.0	63.0					2																	50847200		1973	4177	6150	SO:0001583	missense	0			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1280G>T	2.37:g.50847200C>A	ENSP00000384311:p.Gly427Val		A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.G419V	ENST00000406316.2	37	c.1256	CCDS54360.1	2	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578206	0.65878	.	.	ENSG00000179915	ENST00000404971;ENST00000406316;ENST00000405472;ENST00000401669;ENST00000536085;ENST00000402717;ENST00000406859	T;T;T;T;T;T	0.78481	-1.18;-1.18;-1.17;-1.18;-1.17;-1.18	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	D	0.87317	0.6147	L	0.59436	1.845	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.99;0.989	D	0.85812	0.1380	10	0.54805	T	0.06	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	467;427;419	Q9ULB1-3;F8WB18;A7E294	.;.;.	V	467;427;419;427;468;419;427	ENSP00000385142:G467V;ENSP00000384311:G427V;ENSP00000434015:G419V;ENSP00000385017:G427V;ENSP00000385434:G419V;ENSP00000385681:G427V	ENSP00000385017:G427V	G	-	2	0	NRXN1	50700704	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.937000	0.99478	0.650000	0.86243	GGG	0	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.458	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	protein_coding	OTTHUMT00000325291.2	29	215	0	0.00	0	0	C		0	0		50847200	-1	no_errors	ENST00000402717	ensembl	human	known	74_37	missense	39	144	33.9	29.76	20	61	SNP	1	A
HECW2	57520	genome.wustl.edu	37	2	197172675	197172675	+	Missense_Mutation	SNP	C	C	T			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr2:197172675C>T	ENST00000260983.3	-	11	2751	c.2569G>A	c.(2569-2571)Gag>Aag	p.E857K	HECW2_ENST00000409111.1_Missense_Mutation_p.E501K	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	857	Interaction with TP73.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TTCAGCTGCTCCATTTGCTGT	0.507																																							0											0													90.0	84.0	86.0					2																	197172675		2203	4300	6503	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.2569G>A	2.37:g.197172675C>T	ENSP00000260983:p.Glu857Lys		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom	p.E857K	ENST00000260983.3	37	c.2569	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.601546	0.96614	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	D;D	0.83591	-1.74;-1.74	5.17	5.17	0.71159	.	0.000000	0.85682	D	0.000000	D	0.89701	0.6791	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	D	0.90241	0.4286	10	0.72032	D	0.01	.	18.8496	0.92222	0.0:1.0:0.0:0.0	.	857	Q9P2P5	HECW2_HUMAN	K	501;857	ENSP00000386775:E501K;ENSP00000260983:E857K	ENSP00000260983:E857K	E	-	1	0	HECW2	196880920	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.309000	0.78937	2.692000	0.91855	0.555000	0.69702	GAG	0	NULL		0.507	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	protein_coding	OTTHUMT00000335199.3	57	258	0	0.77	0	2	C	NM_020760	0	0		197172675	-1	no_errors	ENST00000260983	ensembl	human	known	74_37	missense	26	123	33.33	37.88	13	75	SNP	1	T
BDP1	55814	genome.wustl.edu	37	5	70763245	70763245	+	Missense_Mutation	SNP	G	G	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr5:70763245G>A	ENST00000358731.4	+	6	1113	c.850G>A	c.(850-852)Gag>Aag	p.E284K	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	284	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CCCCATATTTGAGCGCGGTTC	0.303																																							0											0													181.0	179.0	180.0					5																	70763245		1818	4069	5887	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.850G>A	5.37:g.70763245G>A	ENSP00000351575:p.Glu284Lys		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.E284K	ENST00000358731.4	37	c.850	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	32	5.129412	0.94473	.	.	ENSG00000145734	ENST00000358731;ENST00000437938;ENST00000444711	T	0.05258	3.47	5.36	5.36	0.76844	Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.23886	0.0578	M	0.62154	1.92	0.80722	D	1	D;D;D	0.89917	0.999;0.998;1.0	D;D;D	0.87578	0.997;0.994;0.998	T	0.00128	-1.2017	10	0.52906	T	0.07	.	17.8639	0.88790	0.0:0.0:1.0:0.0	.	284;284;284	A6H8Y1;A6H8Y1-2;A6H8Y1-4	BDP1_HUMAN;.;.	K	284	ENSP00000351575:E284K	ENSP00000351575:E284K	E	+	1	0	BDP1	70799001	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.154000	0.94694	2.513000	0.84729	0.563000	0.77884	GAG	0	superfamily_Homeodomain-like		0.303	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	protein_coding	OTTHUMT00000374681.2	64	356	0	0.56	0	2	G	NM_018429	0	0		70763245	1	no_errors	ENST00000358731	ensembl	human	known	74_37	missense	62	292	40.95	28.95	43	119	SNP	1	A
KIF4B	285643	genome.wustl.edu	37	5	154394947	154394947	+	Missense_Mutation	SNP	G	G	A	rs199913629		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr5:154394947G>A	ENST00000435029.4	+	1	1688	c.1528G>A	c.(1528-1530)Gct>Act	p.A510T		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	510					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|plus-end-directed microtubule motor activity (GO:0008574)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTCTTCTGACGCTTTTACCAC	0.483																																							0											0													96.0	102.0	100.0					5																	154394947		2203	4300	6503	SO:0001583	missense	0			AF241316	CCDS47324.1	5q33.2	2010-06-22			ENSG00000226650	ENSG00000226650		"""Kinesins"""	6322	protein-coding gene	gene with protein product		609184					Standard	NM_001099293		Approved		uc010jih.1	Q2VIQ3	OTTHUMG00000164143	ENST00000435029.4:c.1528G>A	5.37:g.154394947G>A	ENSP00000387875:p.Ala510Thr			Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A510T	ENST00000435029.4	37	c.1528	CCDS47324.1	5	.	.	.	.	.	.	.	.	.	.	g	0.413	-0.912227	0.02415	.	.	ENSG00000226650	ENST00000435029	T	0.68025	-0.3	1.35	1.35	0.21983	.	.	.	.	.	T	0.48732	0.1516	L	0.35487	1.065	0.37652	D	0.92243	B	0.10296	0.003	B	0.04013	0.001	T	0.40001	-0.9586	9	0.14656	T	0.56	.	8.5829	0.33640	0.0:0.0:1.0:0.0	.	510	Q2VIQ3	KIF4B_HUMAN	T	510	ENSP00000387875:A510T	ENSP00000387875:A510T	A	+	1	0	KIF4B	154375140	0.998000	0.40836	0.095000	0.20976	0.010000	0.07245	5.804000	0.69135	1.061000	0.40601	0.462000	0.41574	GCT	0	NULL		0.483	KIF4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4B	protein_coding	OTTHUMT00000377478.1	66	144	0	0.00	0	0	G		0	0		154394947	1	no_errors	ENST00000435029	ensembl	human	known	74_37	missense	68	83	26.88	30.25	25	36	SNP	0.963	A
EHMT2	10919	genome.wustl.edu	37	6	31850563	31850563	+	Splice_Site	SNP	C	C	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr6:31850563C>A	ENST00000375537.4	-	25	3117		c.e25-1		EHMT2_ENST00000375528.4_Splice_Site|EHMT2_ENST00000395728.3_Splice_Site|EHMT2_ENST00000480912.1_Splice_Site|EHMT2-AS1_ENST00000434689.1_RNA|EHMT2_ENST00000375530.4_Splice_Site	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2						DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TAGCCGCACCCTGGGGGTAGG	0.662																																							0											0													26.0	26.0	26.0					6																	31850563		1508	2708	4216	SO:0001630	splice_region_variant	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.3111-1G>T	6.37:g.31850563C>A			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Splice_Site	SNP	0	e24-1	ENST00000375537.4	37	c.3282-1	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	C	12.38	1.921720	0.33908	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	.	.	.	4.57	2.8	0.32819	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.6638	0.39972	0.0:0.8274:0.0:0.1726	.	.	.	.	.	-1	.	.	.	-	.	.	EHMT2	31958542	1.000000	0.71417	0.825000	0.32803	0.017000	0.09413	7.181000	0.77682	0.549000	0.28973	-0.145000	0.13849	.	0	0		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	protein_coding	OTTHUMT00000076355.5	39	105	0	0.00	0	0	C	NM_006709	0	0	Intron	31850563	-1	no_errors	ENST00000395728	ensembl	human	known	74_37	splice_site	16	60	34.62	21.05	9	16	SNP	1	A
GTF2I	2969	genome.wustl.edu	37	7	74146970	74146970	+	Missense_Mutation	SNP	T	T	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr7:74146970T>A	ENST00000324896.4	+	15	1660	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GTF2I_ENST00000346152.4_Missense_Mutation_p.L403H|GTF2I_ENST00000416070.1_Missense_Mutation_p.L383H|GTF2I_ENST00000353920.4_Missense_Mutation_p.L404H	NM_032999.2	NP_127492.1	P78347	GTF2I_HUMAN	general transcription factor IIi	424					negative regulation of angiogenesis (GO:0016525)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19						AGGATATTACTTGCAAAGGAA	0.378																																							0											0													13.0	13.0	13.0					7																	74146970		1741	3768	5509	SO:0001583	missense	0			U77948	CCDS5573.1, CCDS5574.1, CCDS5575.1, CCDS47614.1, CCDS64680.1	7q11.23	2011-05-25	2009-07-23			ENSG00000263001		"""General transcription factors"""	4659	protein-coding gene	gene with protein product		601679	"""general transcription factor II, i"""	WBSCR6		9334314, 9012831	Standard	NM_032999		Approved	TFII-I, BAP-135, SPIN, BTKAP1, DIWS, IB291	uc003uau.3	P78347		ENST00000324896.4:c.1271T>A	7.37:g.74146970T>A	ENSP00000322542:p.Leu424His		O14743|O15359|O43546|O43588|O43589|Q75M85|Q75M86|Q75M87|Q75M88|Q86U51|Q9BSZ4	Missense_Mutation	SNP	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I	p.L424H	ENST00000324896.4	37	c.1271	CCDS5573.1	7	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565904	0.65651	.	.	ENSG00000077809	ENST00000324896;ENST00000539339;ENST00000353920;ENST00000346152;ENST00000416070	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	4.72	4.72	0.59763	.	0.110120	0.39544	N	0.001322	T	0.37019	0.0988	N	0.14661	0.345	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.998;1.0;0.999	D;D;P;D;D	0.74348	0.983;0.979;0.874;0.971;0.963	T	0.36089	-0.9762	10	0.56958	D	0.05	-16.5588	13.3771	0.60745	0.0:0.0:0.0:1.0	.	402;383;404;403;424	Q499G6;P78347-2;P78347-3;P78347-4;P78347	.;.;.;.;GTF2I_HUMAN	H	424;419;404;403;383	ENSP00000322542:L424H;ENSP00000322671:L404H;ENSP00000322599:L403H;ENSP00000387651:L383H	ENSP00000322542:L424H	L	+	2	0	GTF2I	73784906	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	5.342000	0.65970	1.753000	0.51906	0.477000	0.44152	CTT	0	pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I		0.378	GTF2I-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GTF2I	protein_coding	OTTHUMT00000252708.1	315	150	0	1.32	0	2	T	NM_032999	0	0		74146970	1	no_errors	ENST00000324896	ensembl	human	known	74_37	missense	260	91	36.03	40.13	147	61	SNP	1	A
RIMS2	9699	genome.wustl.edu	37	8	104948818	104948818	+	Silent	SNP	A	A	G			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr8:104948818A>G	ENST00000436393.2	+	11	1990	c.1749A>G	c.(1747-1749)acA>acG	p.T583T	RIMS2_ENST00000507740.1_Silent_p.T597T|RIMS2_ENST00000262231.10_Silent_p.T644T|RIMS2_ENST00000406091.3_Silent_p.T805T			Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	867					calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cAMP-mediated signaling (GO:0019933)|insulin secretion (GO:0030073)|intracellular protein transport (GO:0006886)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|regulation of exocytosis (GO:0017157)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAAAGAAAACATTGGAACCCA	0.338										HNSCC(12;0.0054)																													0											0													99.0	91.0	94.0					8																	104948818		1824	4074	5898	SO:0001819	synonymous_variant	0			AB018294	CCDS43761.1, CCDS64948.1, CCDS64949.1	8q22.3	2008-08-08	2002-06-12	2002-06-14					17283	protein-coding gene	gene with protein product		606630	"""RAB3 interacting protein 3"""	RAB3IP3		9872452, 12578829	Standard	NM_014677		Approved	KIAA0751, RIM2, OBOE	uc003ylp.3	Q9UQ26		ENST00000436393.2:c.1749A>G	8.37:g.104948818A>G			B3KX91|F8WD47|O43413|Q86XL9|Q8IWV9|Q8IWW1	Silent	SNP	pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel	p.T805	ENST00000436393.2	37	c.2415		8																																																																																			0	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom		0.338	RIMS2-007	NOVEL	basic|exp_conf	protein_coding	RIMS2	protein_coding	OTTHUMT00000367217.1	64	279	0	0.00	0	0	A	NM_001100117	0	0		104948818	1	no_errors	ENST00000406091	ensembl	human	known	74_37	silent	105	195	36.9	35.64	62	108	SNP	0.973	G
TUBBP5	643224	genome.wustl.edu	37	9	141069114	141069114	+	RNA	SNP	G	G	A	rs371804903		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr9:141069114G>A	ENST00000503395.1	+	0	813									tubulin, beta pseudogene 5																		tcatcaatctgggacaggtgc	0.418																																							0											0																																												0			AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069114G>A				RNA	SNP	0	NULL	ENST00000503395.1	37	NULL		9																																																																																			0	0		0.418	TUBBP5-003	KNOWN	basic	processed_transcript	TUBBP5	pseudogene	OTTHUMT00000373087.1	29	10	0	0.00	0	0	G	NR_027156	rs371804903	G->A		141069114	1	no_errors	ENST00000503395	ensembl	human	known	74_37	rna	27	10	10	16.67	3	2	SNP	0.015	A
WDFY4	57705	genome.wustl.edu	37	10	50151484	50151484	+	Missense_Mutation	SNP	A	A	T			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr10:50151484A>T	ENST00000325239.5	+	48	7766	c.7739A>T	c.(7738-7740)tAc>tTc	p.Y2580F	WDFY4_ENST00000413659.2_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2580	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.					integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						CTCGCAGACTACACCTCAGAG	0.527																																							0											0													83.0	72.0	76.0					10																	50151484		692	1591	2283	SO:0001583	missense	0			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.7739A>T	10.37:g.50151484A>T	ENSP00000320563:p.Tyr2580Phe		B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Y2580F	ENST00000325239.5	37	c.7739	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.773903|4.773903	0.90108|0.90108	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000265453|ENST00000426033;ENST00000325239;ENST00000544136	.|T	.|0.81330	.|-1.48	5.68|5.68	5.68|5.68	0.88126|0.88126	.|BEACH domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86744|0.86744	0.6006|0.6006	L|L	0.58583|0.58583	1.82|1.82	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;0.984	.|D;D	.|0.97110	.|1.0;0.972	D|D	0.86231|0.86231	0.1637|0.1637	5|9	.|.	.|.	.|.	.|.	12.3272|12.3272	0.55018|0.55018	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|43;2580	.|B4DWY9;Q6ZS81	.|.;WDFY4_HUMAN	S|F	667|2580;2580;43	.|ENSP00000320563:Y2580F	.|.	T|Y	+|+	1|2	0|0	WDFY4|WDFY4	49821490|49821490	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.951000|0.951000	0.60555|0.60555	6.871000|6.871000	0.75531|0.75531	2.182000|2.182000	0.69389|0.69389	0.533000|0.533000	0.62120|0.62120	ACA|TAC	0	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.527	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	protein_coding		36	170	2.7	0.58	1	1	A	XM_033379	0	0		50151484	1	no_errors	ENST00000325239	ensembl	human	known	74_37	missense	38	79	25.49	45.89	13	67	SNP	1	T
HRAS	3265	genome.wustl.edu	37	11	533553	533553	+	Missense_Mutation	SNP	T	T	C	rs104894227		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr11:533553T>C	ENST00000451590.1	-	4	537	c.350A>G	c.(349-351)aAg>aGg	p.K117R	HRAS_ENST00000468682.2_5'Flank|HRAS_ENST00000311189.7_Missense_Mutation_p.K117R|HRAS_ENST00000397594.1_Missense_Mutation_p.K117R|HRAS_ENST00000397596.2_Missense_Mutation_p.K117R|HRAS_ENST00000417302.1_Missense_Mutation_p.K117R	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	117			K -> R (in CSTLO). {ECO:0000269|PubMed:16443854}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)			adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGTCACACTTGTTCCCCAC	0.632		6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																													0	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	v-Ha-ras Harvey rat sarcoma viral oncogene homolog		"""E, L, M"""	0			GRCh37	CM061796	HRAS	M	rs104894227						199.0	177.0	184.0					11																	533553		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.350A>G	11.37:g.533553T>C	ENSP00000407586:p.Lys117Arg		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K117R	ENST00000451590.1	37	c.350	CCDS7698.1	11	.	.	.	.	.	.	.	.	.	.	T	26.2	4.718949	0.89205	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22	4.08	4.08	0.47627	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.96300	0.8793	H	0.99650	4.68	0.80722	A	1	D;D	0.76494	0.999;0.998	D;D	0.71656	0.974;0.964	D	0.98374	1.0555	9	0.87932	D	0	.	12.54	0.56163	0.0:0.0:0.0:1.0	.	117;117	P01112-2;P01112	.;RASH_HUMAN	R	117	ENSP00000380722:K117R;ENSP00000380723:K117R;ENSP00000407586:K117R;ENSP00000388246:K117R;ENSP00000309845:K117R	ENSP00000309845:K117R	K	-	2	0	HRAS	523553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.878000	0.87231	1.624000	0.50355	0.459000	0.35465	AAG	0	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.632	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	HRAS	protein_coding	OTTHUMT00000259403.2	48	204	0	0.00	0	0	T	NM_176795	rs104894227	T->C		533553	-1	no_errors	ENST00000311189	ensembl	human	known	74_37	missense	33	72	26.67	37.39	12	43	SNP	1	C
TEAD4	7004	genome.wustl.edu	37	12	3120212	3120212	+	Missense_Mutation	SNP	G	G	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr12:3120212G>A	ENST00000359864.2	+	4	459	c.269G>A	c.(268-270)gGg>gAg	p.G90E	TEAD4_ENST00000358409.2_Missense_Mutation_p.G90E|TEAD4_ENST00000397122.2_5'UTR	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	90					gene expression (GO:0010467)|hippo signaling (GO:0035329)|muscle organ development (GO:0007517)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTCCGGACAGGGAAGACCCGC	0.632																																							0											0													68.0	66.0	67.0					12																	3120212		2203	4300	6503	SO:0001583	missense	0			X94438	CCDS31729.1, CCDS31730.1, CCDS41737.1	12p13.3-p13.2	2008-05-14				ENSG00000197905			11717	protein-coding gene	gene with protein product		601714		TCF13L1		9889009, 8921372	Standard	NM_003213		Approved	TEF-3, TEFR-1, EFTR-2, RTEF-1	uc010sej.2	Q15561		ENST00000359864.2:c.269G>A	12.37:g.3120212G>A	ENSP00000352926:p.Gly90Glu		H0Y308|Q6MZR9|Q8NEV5|Q92883|Q96BK2	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS	p.G90E	ENST00000359864.2	37	c.269	CCDS31729.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.325142	0.81580	.	.	ENSG00000197905	ENST00000358409;ENST00000359864;ENST00000543035	T;T;T	0.52057	0.68;0.68;0.68	5.14	4.24	0.50183	.	0.000000	0.85682	D	0.000000	T	0.75532	0.3862	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82008	-0.0670	10	0.87932	D	0	-28.8427	12.284	0.54781	0.0:0.0:0.8299:0.1701	.	90	Q15561	TEAD4_HUMAN	E	90	ENSP00000351184:G90E;ENSP00000352926:G90E;ENSP00000444528:G90E	ENSP00000351184:G90E	G	+	2	0	TEAD4	2990473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	1.272000	0.44329	0.561000	0.74099	GGG	0	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS		0.632	TEAD4-001	KNOWN	non_ATG_start|basic|CCDS	protein_coding	TEAD4	protein_coding	OTTHUMT00000398475.1	28	71	0	0.00	0	0	G	NM_003213	0	0		3120212	1	no_errors	ENST00000359864	ensembl	human	known	74_37	missense	16	43	36	45.00	9	36	SNP	1	A
PPTC7	160760	genome.wustl.edu	37	12	110989715	110989715	+	Silent	SNP	T	T	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr12:110989715T>A	ENST00000354300.3	-	2	570	c.282A>T	c.(280-282)tcA>tcT	p.S94S		NM_139283.1	NP_644812.1	Q8NI37	PPTC7_HUMAN	PTC7 protein phosphatase homolog (S. cerevisiae)	94	PP2C-like.					mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(1)|large_intestine(2)|lung(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	9						TTAAAGTCCCTGAGAATTGAG	0.428																																							0											0													107.0	95.0	99.0					12																	110989715		2203	4300	6503	SO:0001819	synonymous_variant	0			AF385435	CCDS9149.1	12q24.11	2009-11-05				ENSG00000196850			30695	protein-coding gene	gene with protein product	"""T cell activation protein phosphatase 2C"""	609668				15177553	Standard	NM_139283		Approved	TA-PP2C	uc001trh.1	Q8NI37	OTTHUMG00000169529	ENST00000354300.3:c.282A>T	12.37:g.110989715T>A			B3KWC5|Q68DZ7|Q6UY82	Silent	SNP	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom	p.S94	ENST00000354300.3	37	c.282	CCDS9149.1	12																																																																																			0	pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom		0.428	PPTC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPTC7	protein_coding	OTTHUMT00000404635.1	79	260	0	0.76	0	2	T	NM_139283	0	0		110989715	-1	no_errors	ENST00000354300	ensembl	human	known	74_37	silent	45	185	36.62	35.54	26	102	SNP	1	A
LRRC63	220416	genome.wustl.edu	37	13	46850727	46850727	+	Missense_Mutation	SNP	C	C	T			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr13:46850727C>T	ENST00000595396.1	+	9	1553	c.1553C>T	c.(1552-1554)aCa>aTa	p.T518I				Q05C16	LRC63_HUMAN	leucine rich repeat containing 63	518										lung(1)|ovary(1)	2						CATTTCAGCACATCCAGGTGT	0.388																																							0											0																																										SO:0001583	missense	0				CCDS61325.1	13q14.12	2014-02-12			ENSG00000173988	ENSG00000173988			34296	protein-coding gene	gene with protein product							Standard	NM_001282460		Approved	RP11-139H14.4	uc001vbc.3	Q05C16	OTTHUMG00000016866	ENST00000595396.1:c.1553C>T	13.37:g.46850727C>T	ENSP00000469337:p.Thr518Ile		Q5TBN0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.T518I	ENST00000595396.1	37	c.1553		13																																																																																			0	NULL		0.388	LRRC63-002	NOVEL	not_organism_supported|basic|appris_candidate_longest	protein_coding	LRRC63	protein_coding	OTTHUMT00000463266.1	52	263	0	0.38	0	1	C	XM_001718341	0	0		46850727	1	no_errors	ENST00000595396	ensembl	human	novel	74_37	missense	30	192	38.78	32.87	19	94	SNP	0.716	T
SLC12A1	6557	genome.wustl.edu	37	15	48551475	48551475	+	Silent	SNP	C	C	T			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr15:48551475C>T	ENST00000558405.1	+	16	2135	c.2121C>T	c.(2119-2121)aaC>aaT	p.N707N	SLC12A1_ENST00000380993.3_Silent_p.N707N|SLC12A1_ENST00000396577.3_Silent_p.N707N			Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	707					cell death (GO:0008219)|chemical homeostasis (GO:0048878)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|kidney development (GO:0001822)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium:potassium:chloride symporter activity (GO:0008511)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Potassium Chloride(DB00761)|Quinethazone(DB01325)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TTACCAAGAACAGTGGCCTTT	0.483																																							0											0													183.0	159.0	167.0					15																	48551475		2198	4297	6495	SO:0001819	synonymous_variant	0				CCDS10129.2, CCDS53940.1	15q15-q21	2013-07-18	2013-07-18		ENSG00000074803	ENSG00000074803		"""Solute carriers"""	10910	protein-coding gene	gene with protein product		600839				8640224	Standard	NM_000338		Approved	NKCC2	uc010bem.3	Q13621	OTTHUMG00000131495	ENST00000558405.1:c.2121C>T	15.37:g.48551475C>T			A8JYA2|E9PDW4	Silent	SNP	pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.N707	ENST00000558405.1	37	c.2121	CCDS10129.2	15																																																																																			0	tigrfam_Na/K/Cl_cotransptS		0.483	SLC12A1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC12A1	protein_coding	OTTHUMT00000417131.1	67	297	0	0.34	0	1	C		0	0		48551475	1	no_errors	ENST00000380993	ensembl	human	known	74_37	silent	40	198	40.3	28.52	27	79	SNP	1	T
C16orf62	57020	genome.wustl.edu	37	16	19584459	19584459	+	Missense_Mutation	SNP	C	C	T	rs570834372		TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr16:19584459C>T	ENST00000251143.5	+	4	316	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	C16orf62_ENST00000417362.2_Missense_Mutation_p.R102C|C16orf62_ENST00000538853.1_Missense_Mutation_p.R191C|C16orf62_ENST00000542263.1_Missense_Mutation_p.R191C|C16orf62_ENST00000438132.3_Missense_Mutation_p.R191C			Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	102						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						CAGAAGGAAACGTGATAGAGA	0.403													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16375	0.0		0.0	False		,,,				2504	0.0						0.9998,0.0001997											0													130.0	128.0	129.0					16																	19584459		2197	4300	6497	SO:0001583	missense	0				CCDS32397.1, CCDS32397.2, CCDS73840.1	16p12.3	2012-05-30			ENSG00000103544	ENSG00000103544			24641	protein-coding gene	gene with protein product						10493829	Standard	NM_020314		Approved	MGC16824	uc002dgn.3	Q7Z3J2	OTTHUMG00000167925	ENST00000251143.5:c.304C>T	16.37:g.19584459C>T	ENSP00000251143:p.Arg102Cys		A8K2M1|O43329|Q69YI1|Q6PDA0|Q7L371|Q86W66|Q8WXA5|Q9H0L7|Q9H7C8	Missense_Mutation	SNP	NULL	p.R191C	ENST00000251143.5	37	c.571		16	.	.	.	.	.	.	.	.	.	.	C	15.91	2.971589	0.53614	.	.	ENSG00000103544	ENST00000438132;ENST00000538853;ENST00000542263;ENST00000251143;ENST00000417362	T;T;T;T;T	0.49432	1.47;0.78;1.47;1.47;1.47	5.32	4.36	0.52297	.	0.294944	0.30419	N	0.009667	T	0.48502	0.1503	L	0.46157	1.445	0.80722	D	1	D;D;D	0.69078	0.997;0.987;0.995	P;B;P	0.50896	0.653;0.401;0.648	T	0.49082	-0.8976	10	0.56958	D	0.05	-6.1474	10.1933	0.43039	0.1539:0.6978:0.1483:0.0	.	191;102;191	F5H7K1;Q7Z3J2;E7EWW0	.;CP062_HUMAN;.	C	191;191;191;102;102	ENSP00000400815:R191C;ENSP00000444363:R191C;ENSP00000442468:R191C;ENSP00000251143:R102C;ENSP00000395973:R102C	ENSP00000251143:R102C	R	+	1	0	C16orf62	19491960	1.000000	0.71417	0.975000	0.42487	0.374000	0.29953	2.882000	0.48546	1.212000	0.43366	0.557000	0.71058	CGT	0	NULL		0.403	C16orf62-201	KNOWN	basic|appris_principal	protein_coding	C16orf62	protein_coding		83	262	0	0.00	0	0	C	NM_020314	rs570834372	C->T		19584459	1	no_errors	ENST00000438132	ensembl	human	known	74_37	missense	53	170	34.57	34.73	28	91	SNP	1	T
MTHFD1	4522	genome.wustl.edu	37	14	64914971	64914979	+	In_Frame_Del	DEL	AAGAAACAA	AAGAAACAA	-			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	AAGAAACAA	AAGAAACAA	AAGAAACAA	-	AAGAAACAA	AAGAAACAA	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr14:64914971_64914979delAAGAAACAA	ENST00000545908.1	+	23	2612_2620	c.2383_2391delAAGAAACAA	c.(2383-2391)aagaaacaadel	p.KKQ795del	MTHFD1_ENST00000216605.8_In_Frame_Del_p.KKQ739del|CTD-2555O16.2_ENST00000556640.1_RNA			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	739	Formyltetrahydrofolate synthetase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	CAGTAACTTGAAGAAACAAATTGAAAATG	0.397																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)		0											0																																										SO:0001651	inframe_deletion	0			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.2383_2391delAAGAAACAA	14.37:g.64914971_64914979delAAGAAACAA	ENSP00000438588:p.Lys795_Gln797del		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	In_Frame_Del	DEL	pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase	p.KKQ739in_frame_del	ENST00000545908.1	37	c.2215_2223		14																																																																																			0	pfam_Formate_THF_ligase,superfamily_P-loop_NTPase		0.397	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	MTHFD1	protein_coding	OTTHUMT00000412167.1	60	124	0	0.00	0	0	AAGAAACAA		0	0		64914979	1	no_errors	ENST00000216605	ensembl	human	known	74_37	in_frame_del	39	71	20.41	11.25	10	9	DEL	0.998:0.990:1.000:1.000:1.000:1.000:1.000:1.000:1.000	0
PQLC1	80148	genome.wustl.edu	37	18	77710752	77710753	+	In_Frame_Ins	INS	-	-	CAG			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	-	-	-	CAG	-	-	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr18:77710752_77710753insCAG	ENST00000397778.2	-	2	356_357	c.174_175insCTG	c.(172-177)ctggtg>ctgCTGgtg	p.58_59insL	PQLC1_ENST00000590381.1_In_Frame_Ins_p.58_59insL|PQLC1_ENST00000357575.4_In_Frame_Ins_p.58_59insL|PQLC1_ENST00000409073.1_5'UTR	NM_025078.4	NP_079354.2	Q8N2U9	PQLC1_HUMAN	PQ loop repeat containing 1	58	PQ-loop 1.					integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		ATGTTGGCCACCAGCAGCACCA	0.594																																							0											0																																										SO:0001652	inframe_insertion	0			AK123870	CCDS12020.1, CCDS54192.1, CCDS54193.1	18q23	2004-01-14			ENSG00000122490	ENSG00000122490			26188	protein-coding gene	gene with protein product						12477932	Standard	NM_025078		Approved	FLJ22378	uc002lnl.2	Q8N2U9	OTTHUMG00000132921	ENST00000397778.2:c.172_174dupCTG	18.37:g.77710756_77710758dupCAG	ENSP00000380880:p.Leu58_Leu58dup		B7Z7D9|G5E989|Q9H6D0	In_Frame_Ins	INS	smart_CTNS	p.58in_frame_insL	ENST00000397778.2	37	c.175_174	CCDS12020.1	18																																																																																			0	smart_CTNS		0.594	PQLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PQLC1	protein_coding	OTTHUMT00000256434.1	44	267	0	0.37	0	1	0	NM_025078	0	0		77710753	-1	no_errors	ENST00000397778	ensembl	human	known	74_37	in_frame_ins	18	107	40	27.70	12	41	INS	1.000:1.000	CAG
ABHD17A	81926	genome.wustl.edu	37	19	1881263	1881263	+	Silent	SNP	G	G	A			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr19:1881263G>A	ENST00000292577.7	-	2	736	c.303C>T	c.(301-303)tgC>tgT	p.C101C	ABHD17A_ENST00000590661.1_Silent_p.C101C|ABHD17A_ENST00000250974.9_Silent_p.C101C	NM_001130111.1	NP_001123583.1	Q96GS6	AB17A_HUMAN	abhydrolase domain containing 17A	101						extracellular region (GO:0005576)|membrane (GO:0016020)	hydrolase activity (GO:0016787)	p.C101C(3)									GAACATACATGCAGGAGACGC	0.662																																							0											3	Substitution - coding silent(3)	lung(2)|endometrium(1)											35.0	39.0	38.0					19																	1881263		2202	4299	6501	SO:0001819	synonymous_variant	0			BC020512	CCDS32867.1, CCDS45902.1	19p13.3	2013-03-15	2013-03-15	2013-03-15	ENSG00000129968	ENSG00000129968		"""Abhydrolase domain containing"""	28756	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 27"", ""family with sequence similarity 108, member A1"""	C19orf27, FAM108A1		14702039	Standard	NM_031213		Approved	MGC5244	uc002lug.3	Q96GS6	OTTHUMG00000171872	ENST00000292577.7:c.303C>T	19.37:g.1881263G>A			A8K0G8|D6W5Z9|Q6PJU2|Q8WUH9|Q9BWL0|Q9H7Q9	Silent	SNP	pfam_Dienelactn_hydro	p.C101	ENST00000292577.7	37	c.303	CCDS45902.1	19																																																																																			0	NULL		0.662	ABHD17A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17A	protein_coding	OTTHUMT00000415556.2	66	12	1.49	0.00	1	0	G	NM_031213	0	0		1881263	-1	no_errors	ENST00000250974	ensembl	human	known	74_37	silent	65	10	7.14	0.00	5	0	SNP	1	A
HAND2	9464	genome.wustl.edu	37	4	174450159	174450159	+	Frame_Shift_Del	DEL	C	C	-			TCGA-3G-AB19-01A-21D-A423-09	TCGA-3G-AB19-11A-22D-A426-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	c4a51eb9-a828-443c-a8f7-20d9472e99c2	654ce79f-c5e7-44ed-b6b9-badc0c6469ef	g.chr4:174450159delC	ENST00000359562.4	-	1	1221	c.282delG	c.(280-282)gggfs	p.G94fs	HAND2-AS1_ENST00000515350.1_RNA|HAND2_ENST00000505300.1_5'UTR|HAND2-AS1_ENST00000502941.1_RNA|HAND2-AS1_ENST00000512099.1_RNA|HAND2-AS1_ENST00000509866.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000511728.1_RNA|HAND2-AS1_ENST00000504429.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000507062.1_RNA|HAND2-AS1_ENST00000510221.1_RNA|HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000503198.1_RNA|HAND2-AS1_ENST00000502896.1_RNA|HAND2-AS1_ENST00000508534.1_RNA|HAND2-AS1_ENST00000507322.1_RNA|HAND2-AS1_ENST00000507636.1_RNA|HAND2-AS1_ENST00000515741.1_RNA|HAND2-AS1_ENST00000515345.1_RNA|HAND2-AS1_ENST00000507571.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000505032.1_RNA|HAND2-AS1_ENST00000512209.2_RNA|HAND2-AS1_ENST00000515310.1_RNA|HAND2-AS1_ENST00000511196.1_RNA|HAND2-AS1_ENST00000503309.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000509640.1_RNA|HAND2-AS1_ENST00000514673.1_RNA|HAND2-AS1_ENST00000508887.1_RNA|HAND2-AS1_ENST00000505621.1_RNA|HAND2-AS1_ENST00000512246.1_RNA|HAND2-AS1_ENST00000502334.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000510339.1_RNA|HAND2-AS1_ENST00000503474.1_RNA	NM_021973.2	NP_068808.1	P61296	HAND2_HUMAN	heart and neural crest derivatives expressed 2	94					adult heart development (GO:0007512)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic process involved in heart morphogenesis (GO:0003278)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cardiac right ventricle formation (GO:0003219)|cartilage morphogenesis (GO:0060536)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|coronary artery morphogenesis (GO:0060982)|embryonic digit morphogenesis (GO:0042733)|heart development (GO:0007507)|heart looping (GO:0001947)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|mesenchymal cell proliferation (GO:0010463)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of DNA binding (GO:0043392)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|neural crest cell development (GO:0014032)|noradrenergic neuron differentiation (GO:0003357)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peripheral nervous system neuron development (GO:0048935)|positive regulation of semaphorin-plexin signaling pathway involved in outflow tract morphogenesis (GO:2000764)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in norepinephrine biosynthetic process (GO:2000763)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|sympathetic nervous system development (GO:0048485)|thymus development (GO:0048538)|tongue development (GO:0043586)|visceral serous pericardium development (GO:0061032)	nuclear chromatin (GO:0000790)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|AT DNA binding (GO:0003680)|E-box binding (GO:0070888)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	13		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		ccgggcgcggcccccccaggc	0.751																																							0											0																																										SO:0001589	frameshift_variant	0			AF087941	CCDS3819.1	4q34.1	2014-08-12			ENSG00000164107	ENSG00000164107		"""Basic helix-loop-helix proteins"""	4808	protein-coding gene	gene with protein product		602407				9878849	Standard	NM_021973		Approved	dHand, Thing2, Hed, bHLHa26	uc003ith.1	P61296	OTTHUMG00000160775	ENST00000359562.4:c.282delG	4.37:g.174450159delC	ENSP00000352565:p.Gly94fs		B6ECG9|O95300|O95301|P97833|Q494T1	Frame_Shift_Del	DEL	pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom	p.P95fs	ENST00000359562.4	37	c.282	CCDS3819.1	4																																																																																			0	NULL		0.751	HAND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAND2	protein_coding	OTTHUMT00000362241.3	11	21	0	0.00	0	0	C		0	0		174450159	-1	no_errors	ENST00000359562	ensembl	human	known	74_37	frame_shift_del	4	10	33.33	0.00	2	0	DEL	1	0
