#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ASCC2	84164	genome.wustl.edu	37	22	30197090	30197090	+	Silent	SNP	T	T	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr22:30197090T>C	ENST00000397771.2	-	16	1755	c.1578A>G	c.(1576-1578)aaA>aaG	p.K526K	ASCC2_ENST00000307790.3_Silent_p.K526K|ASCC2_ENST00000542393.1_Silent_p.K450K			Q9H1I8	ASCC2_HUMAN	activating signal cointegrator 1 complex subunit 2	526				K -> N (in Ref. 2; BAB15089). {ECO:0000305}.	regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)					endometrium(3)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(5;0.000103)|Epithelial(10;0.0169)|all cancers(5;0.0259)			TAGGGTCTGGTTTCATTTCTC	0.547																																						dbGAP											0													163.0	162.0	163.0					22																	30197090		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY013289	CCDS13869.1, CCDS56226.1	22q12.1	2004-07-27			ENSG00000100325	ENSG00000100325			24103	protein-coding gene	gene with protein product	"""ASC 1 complex subunit P100"""	614216				12077347, 9847074	Standard	NM_032204		Approved	ASC1p100, FLJ21588, DKFZp586O0223	uc003agr.3	Q9H1I8	OTTHUMG00000067658	ENST00000397771.2:c.1578A>G	22.37:g.30197090T>C			B7Z8E0|F5H6J9|Q4TT54|Q8TAZ0|Q9H711|Q9H9D6	Silent	SNP	pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE	p.K526	ENST00000397771.2	37	c.1578	CCDS13869.1	22																																																																																			ASCC2	-	NULL	ENSG00000100325		0.547	ASCC2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASCC2	HGNC	protein_coding	OTTHUMT00000322127.1	253	0.00	0	T	NM_032204		30197090	30197090	-1	no_errors	ENST00000307790	ensembl	human	known	69_37n	silent	274	13.00	42	SNP	0.991	C
ATG2B	55102	genome.wustl.edu	37	14	96809459	96809459	+	Silent	SNP	T	T	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr14:96809459T>G	ENST00000359933.4	-	5	1634	c.741A>C	c.(739-741)ccA>ccC	p.P247P		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	247					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTCTTACCACTGGTGCAGTTG	0.373																																						dbGAP											0													88.0	76.0	80.0					14																	96809459		1830	4086	5916	-	-	-	SO:0001819	synonymous_variant	0			AK001104	CCDS9944.2	14q32.31	2014-02-12	2012-06-06	2007-07-31	ENSG00000066739	ENSG00000066739			20187	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 103"", ""ATG2 autophagy related 2 homolog B (S. cerevisiae)"""	C14orf103		22350415	Standard	NM_018036		Approved	FLJ10242	uc001yfi.3	Q96BY7	OTTHUMG00000149933	ENST00000359933.4:c.741A>C	14.37:g.96809459T>G			Q6ZRE7|Q96DQ3|Q9NW80	Silent	SNP	pfam_Autophagy-rel_C	p.P247	ENST00000359933.4	37	c.741	CCDS9944.2	14																																																																																			ATG2B	-	NULL	ENSG00000066739		0.373	ATG2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG2B	HGNC	protein_coding	OTTHUMT00000314037.1	411	0.24	1	T	NM_018036		96809459	96809459	-1	no_errors	ENST00000359933	ensembl	human	known	69_37n	silent	183	38.18	113	SNP	0.997	G
ATRX	546	genome.wustl.edu	37	X	76938781	76938781	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:76938781G>A	ENST00000373344.5	-	9	2181	c.1967C>T	c.(1966-1968)tCc>tTc	p.S656F	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.S618F	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	656					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TACACGTGGGGATCTTCGAAG	0.378			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															dbGAP		Rec	yes		X	Xq21.1	546	alpha thalassemia/mental retardation syndrome X-linked	yes	E	1	Unknown(1)	bone(1)											132.0	139.0	137.0					X																	76938781		2203	4293	6496	-	-	-	SO:0001583	missense	0			U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1967C>T	X.37:g.76938781G>A	ENSP00000362441:p.Ser656Phe		D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S656F	ENST00000373344.5	37	c.1967	CCDS14434.1	X	.	.	.	.	.	.	.	.	.	.	G	11.87	1.768388	0.31320	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	D;D	0.97811	-4.55;-4.48	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	L	0.61218	1.895	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.976;0.998	D;D;P;D	0.91635	0.991;0.999;0.509;0.991	D	0.98799	1.0739	10	0.41790	T	0.15	-3.0864	18.127	0.89589	0.0:0.0:1.0:0.0	.	656;588;618;656	A4LAA3;P46100-6;P46100-4;P46100	.;.;.;ATRX_HUMAN	F	656;618;583	ENSP00000362441:S656F;ENSP00000378967:S618F	ENSP00000362441:S656F	S	-	2	0	ATRX	76825437	1.000000	0.71417	0.997000	0.53966	0.951000	0.60555	7.072000	0.76777	2.217000	0.71921	0.513000	0.50165	TCC	ATRX	-	NULL	ENSG00000085224		0.378	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATRX	HGNC	protein_coding	OTTHUMT00000058860.2	171	0.00	0	G	NM_000489		76938781	76938781	-1	no_errors	ENST00000373344	ensembl	human	known	69_37n	missense	126	33.51	64	SNP	0.998	A
BNC2	54796	genome.wustl.edu	37	9	16436220	16436220	+	Missense_Mutation	SNP	C	C	T	rs150371741		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr9:16436220C>T	ENST00000380672.4	-	6	2029	c.1972G>A	c.(1972-1974)Gat>Aat	p.D658N	BNC2_ENST00000380667.2_Missense_Mutation_p.D591N|BNC2_ENST00000545497.1_Missense_Mutation_p.D563N|BNC2_ENST00000380666.2_Missense_Mutation_p.D658N	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTGGGGTCATCATCTTCATCA	0.478																																						dbGAP											0													138.0	123.0	128.0					9																	16436220		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.1972G>A	9.37:g.16436220C>T	ENSP00000370047:p.Asp658Asn			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D658N	ENST00000380672.4	37	c.1972	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762283	0.49468	.	.	ENSG00000173068	ENST00000380672;ENST00000411752;ENST00000418777;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T;T	0.53640	1.35;0.61;1.36;1.38;1.38;1.34	6.17	6.17	0.99709	.	0.104145	0.64402	D	0.000003	T	0.41282	0.1152	N	0.14661	0.345	0.80722	D	1	B;B;P;P;P;B;P;P;P	0.40534	0.361;0.247;0.59;0.72;0.59;0.247;0.455;0.598;0.455	B;B;B;B;B;B;B;B;B	0.43728	0.313;0.117;0.429;0.429;0.232;0.117;0.166;0.247;0.166	T	0.14364	-1.0475	10	0.32370	T	0.25	-16.5601	20.8794	0.99867	0.0:1.0:0.0:0.0	.	563;591;658;484;658;615;658;563;423	F5H586;B1APH0;Q6ZN30-2;B4E3J2;F5H8G9;Q5H9S4;Q6ZN30;B4DR27;D3DRJ1	.;.;.;.;.;.;BNC2_HUMAN;.;.	N	658;51;615;591;563;484;658;658	ENSP00000370047:D658N;ENSP00000392212:D51N;ENSP00000408370:D615N;ENSP00000370042:D591N;ENSP00000444640:D563N;ENSP00000370041:D658N	ENSP00000370041:D658N	D	-	1	0	BNC2	16426220	1.000000	0.71417	0.880000	0.34516	0.884000	0.51177	7.629000	0.83207	2.941000	0.99782	0.655000	0.94253	GAT	BNC2	-	NULL	ENSG00000173068		0.478	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	450	0.00	0	C	NM_017637		16436220	16436220	-1	no_errors	ENST00000380672	ensembl	human	known	69_37n	missense	147	23.44	45	SNP	1.000	T
C2orf71	388939	genome.wustl.edu	37	2	29296696	29296696	+	Silent	SNP	T	T	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr2:29296696T>C	ENST00000331664.5	-	1	431	c.432A>G	c.(430-432)aaA>aaG	p.K144K		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	144					response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TCCTTTTCCATTTGGAAGTAT	0.493																																						dbGAP											0													220.0	212.0	214.0					2																	29296696		2090	4226	6316	-	-	-	SO:0001819	synonymous_variant	0				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.432A>G	2.37:g.29296696T>C				Silent	SNP	NULL	p.K144	ENST00000331664.5	37	c.432	CCDS42669.1	2																																																																																			C2orf71	-	NULL	ENSG00000179270		0.493	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	HGNC	protein_coding	OTTHUMT00000324924.3	852	0.00	0	T	NM_001029883		29296696	29296696	-1	no_errors	ENST00000331664	ensembl	human	novel	69_37n	silent	452	17.06	93	SNP	0.000	C
C3	718	genome.wustl.edu	37	19	6718310	6718310	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr19:6718310G>A	ENST00000245907.6	-	3	473	c.381C>T	c.(379-381)agC>agT	p.S127S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	127					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGAGGTACCCGCTCTGCAGGC	0.647																																						dbGAP											0													94.0	78.0	83.0					19																	6718310		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.381C>T	19.37:g.6718310G>A			A7E236	Silent	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S127	ENST00000245907.6	37	c.381	CCDS32883.1	19																																																																																			C3	-	NULL	ENSG00000125730		0.647	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	123	0.00	0	G	NM_000064		6718310	6718310	-1	no_errors	ENST00000245907	ensembl	human	known	69_37n	silent	101	16.53	20	SNP	0.604	A
CAND1	55832	genome.wustl.edu	37	12	67686481	67686481	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:67686481G>A	ENST00000545606.1	+	3	729	c.292G>A	c.(292-294)Gat>Aat	p.D98N		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	98					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		CATGCTTTCTGATAAAGAACA	0.368																																						dbGAP											0													120.0	117.0	118.0					12																	67686481		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.292G>A	12.37:g.67686481G>A	ENSP00000442318:p.Asp98Asn		B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold	p.D98N	ENST00000545606.1	37	c.292	CCDS8977.1	12	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044633	0.55110	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.64991	-0.13	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.51466	0.1676	N	0.25890	0.77	0.80722	D	1	B	0.22746	0.074	B	0.24701	0.055	T	0.44711	-0.9310	9	.	.	.	-12.6408	18.4209	0.90590	0.0:0.0:1.0:0.0	.	98	Q86VP6	CAND1_HUMAN	N	98	ENSP00000442318:D98N	.	D	+	1	0	CAND1	65972748	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.827000	0.99397	2.349000	0.79799	0.655000	0.94253	GAT	CAND1	-	superfamily_ARM-type_fold	ENSG00000111530		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAND1	HGNC	protein_coding	OTTHUMT00000402105.1	352	0.00	0	G	NM_018448		67686481	67686481	+1	no_errors	ENST00000299218	ensembl	human	known	69_37n	missense	250	10.71	30	SNP	1.000	A
CBWD1	55871	genome.wustl.edu	37	9	156515	156515	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr9:156515C>G	ENST00000356521.4	-	7	629	c.541G>C	c.(541-543)Gag>Cag	p.E181Q	CBWD1_ENST00000382447.4_Missense_Mutation_p.E181Q|CBWD1_ENST00000377400.4_Missense_Mutation_p.E181Q|CBWD1_ENST00000314367.10_Missense_Mutation_p.E145Q|CBWD1_ENST00000377447.3_Missense_Mutation_p.E181Q	NM_018491.3	NP_060961.3	Q9BRT8	CBWD1_HUMAN	COBW domain containing 1	181							ATP binding (GO:0005524)			kidney(1)|lung(2)|ovary(1)|skin(1)	5	all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCAGGTTTCTCTTCTGTTAAA	0.269																																						dbGAP											0													23.0	24.0	23.0					9																	156515		1969	3784	5753	-	-	-	SO:0001583	missense	0			AY343911	CCDS6438.1, CCDS47947.1, CCDS47948.1	9p24.3	2008-02-05			ENSG00000172785	ENSG00000172785			17134	protein-coding gene	gene with protein product		611078				15233989, 12421752	Standard	NM_018491		Approved		uc003zga.4	Q9BRT8	OTTHUMG00000019425	ENST00000356521.4:c.541G>C	9.37:g.156515C>G	ENSP00000348915:p.Glu181Gln		A2RU55|A8K3N3|B0AZR4|Q49AJ1|Q5VVK2|Q6VBU6|Q7Z5Z0|Q7Z652|Q9BY38|Q9NYD0	Missense_Mutation	SNP	pfam_Cbl_biosynth_CobW-like,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C	p.E181Q	ENST00000356521.4	37	c.541	CCDS6438.1	9	.	.	.	.	.	.	.	.	.	.	.	11.56	1.675039	0.29783	.	.	ENSG00000172785	ENST00000356521;ENST00000377400;ENST00000382447;ENST00000314367;ENST00000377447	T;T;T;T;T	0.43688	0.94;3.05;0.94;0.94;0.94	3.27	3.27	0.37495	Cobalamin (vitamin B12) biosynthesis CobW-like (2);	0.000000	0.85682	D	0.000000	T	0.34279	0.0892	N	0.21194	0.64	0.51767	D	0.999936	B;B;B;P	0.37663	0.287;0.395;0.243;0.604	B;B;B;B	0.43360	0.219;0.248;0.248;0.417	T	0.10543	-1.0625	10	0.21540	T	0.41	0.8495	15.0979	0.72250	0.0:1.0:0.0:0.0	.	33;181;145;181	A6NM15;Q9BRT8-3;Q9BRT8-2;Q9BRT8	CBWD7_HUMAN;.;.;CBWD1_HUMAN	Q	181;181;181;145;181	ENSP00000348915:E181Q;ENSP00000366617:E181Q;ENSP00000371885:E181Q;ENSP00000323433:E145Q;ENSP00000366666:E181Q	ENSP00000323433:E145Q	E	-	1	0	CBWD1	146515	1.000000	0.71417	1.000000	0.80357	0.651000	0.38670	4.070000	0.57548	1.839000	0.53478	0.479000	0.44913	GAG	CBWD1	-	pfam_Cbl_biosynth_CobW-like	ENSG00000172785		0.269	CBWD1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	CBWD1	HGNC	protein_coding	OTTHUMT00000051463.1	700	0.00	0	C	NM_018491		156515	156515	-1	no_errors	ENST00000356521	ensembl	human	known	69_37n	missense	272	28.04	106	SNP	1.000	G
PRIMPOL	201973	genome.wustl.edu	37	4	185606574	185606574	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr4:185606574G>C	ENST00000314970.6	+	10	1541	c.1108G>C	c.(1108-1110)Gaa>Caa	p.E370Q	PRIMPOL_ENST00000515774.1_Missense_Mutation_p.E241Q|PRIMPOL_ENST00000512834.1_Missense_Mutation_p.E369Q|PRIMPOL_ENST00000503752.1_Missense_Mutation_p.E370Q	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)	370					mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)										AGAAACCATTGAAGGTTTTCA	0.333																																						dbGAP											0													175.0	166.0	169.0					4																	185606574		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495	ENST00000314970.6:c.1108G>C	4.37:g.185606574G>C	ENSP00000313816:p.Glu370Gln		D3DP55|D6RDM1|Q5HYJ9	Missense_Mutation	SNP	pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S	p.E370Q	ENST00000314970.6	37	c.1108	CCDS3837.1	4	.	.	.	.	.	.	.	.	.	.	G	8.226	0.803535	0.16467	.	.	ENSG00000164306	ENST00000314970;ENST00000515774;ENST00000503752;ENST00000512834;ENST00000508001	T;T;T;T	0.31247	1.53;1.52;1.53;1.5	5.4	5.4	0.78164	.	0.272597	0.35970	N	0.002870	T	0.32133	0.0819	L	0.57536	1.79	0.33903	D	0.638805	P;P;P	0.45902	0.821;0.868;0.868	B;B;B	0.42495	0.389;0.23;0.312	T	0.45629	-0.9248	10	0.33141	T	0.24	-7.959	12.6428	0.56718	0.0749:0.0:0.9251:0.0	.	241;370;369	D3DP56;Q96LW4;D6RDM1	.;CC111_HUMAN;.	Q	370;241;370;369;44	ENSP00000313816:E370Q;ENSP00000421913:E241Q;ENSP00000420860:E370Q;ENSP00000425316:E369Q	ENSP00000313816:E370Q	E	+	1	0	CCDC111	185843568	1.000000	0.71417	0.978000	0.43139	0.046000	0.14306	3.150000	0.50662	2.813000	0.96785	0.561000	0.74099	GAA	CCDC111	-	NULL	ENSG00000164306		0.333	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC111	HGNC	protein_coding	OTTHUMT00000360827.1	1011	0.00	0	G	NM_152683		185606574	185606574	+1	no_errors	ENST00000314970	ensembl	human	known	69_37n	missense	740	13.13	112	SNP	0.992	C
CEP78	84131	genome.wustl.edu	37	9	80880403	80880403	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr9:80880403G>A	ENST00000424347.2	+	14	2030	c.1741G>A	c.(1741-1743)Gaa>Aaa	p.E581K	CEP78_ENST00000415759.2_Missense_Mutation_p.E582K|CEP78_ENST00000376598.2_Missense_Mutation_p.E581K|CEP78_ENST00000277082.5_Missense_Mutation_p.E581K|CEP78_ENST00000376597.4_Missense_Mutation_p.E582K			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	581					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						GAAGGCGCTTGAAGATGAAAA	0.398																																						dbGAP											0													55.0	51.0	52.0					9																	80880403		1821	4073	5894	-	-	-	SO:0001583	missense	0			BC058931	CCDS47984.1, CCDS47985.1	9q21.2	2014-02-20	2005-12-01	2005-12-01	ENSG00000148019	ENSG00000148019			25740	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 81"""	C9orf81		14654843	Standard	NM_001098802		Approved	FLJ12643	uc004aky.4	Q5JTW2	OTTHUMG00000020062	ENST00000424347.2:c.1741G>A	9.37:g.80880403G>A	ENSP00000411284:p.Glu581Lys		A1A4S8|E9PHX5|Q5BJE3|Q5JTW0|Q5JTW1|Q9H9N3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E582K	ENST00000424347.2	37	c.1744		9	.	.	.	.	.	.	.	.	.	.	G	18.23	3.577027	0.65878	.	.	ENSG00000148019	ENST00000424347;ENST00000415085;ENST00000415759;ENST00000376597;ENST00000277082;ENST00000376598	T;T;T;T;T	0.29917	1.56;1.74;1.55;1.55;1.56	5.69	4.74	0.60224	.	0.215095	0.33005	N	0.005387	T	0.47266	0.1436	M	0.67953	2.075	0.27677	N	0.946556	D;D;D	0.61697	0.966;0.99;0.966	P;P;P	0.57152	0.505;0.814;0.505	T	0.42865	-0.9426	10	0.66056	D	0.02	-16.4729	13.9439	0.64073	0.0:0.2741:0.7259:0.0	.	582;582;581	E9PHX5;Q5JTW2-2;Q5JTW2	.;.;CEP78_HUMAN	K	581;581;582;582;581;581	ENSP00000411284:E581K;ENSP00000399286:E582K;ENSP00000365782:E582K;ENSP00000277082:E581K;ENSP00000365783:E581K	ENSP00000277082:E581K	E	+	1	0	CEP78	80070223	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	3.798000	0.55522	2.669000	0.90835	0.655000	0.94253	GAA	CEP78	-	NULL	ENSG00000148019		0.398	CEP78-001	KNOWN	basic|appris_candidate	protein_coding	CEP78	HGNC	protein_coding	OTTHUMT00000052766.2	345	0.00	0	G	XM_095991		80880403	80880403	+1	no_errors	ENST00000376597	ensembl	human	known	69_37n	missense	322	14.36	54	SNP	1.000	A
CERK	64781	genome.wustl.edu	37	22	47095261	47095263	+	In_Frame_Del	DEL	TGA	TGA	-			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	TGA	TGA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr22:47095261_47095263delTGA	ENST00000216264.8	-	8	1002_1004	c.890_892delTCA	c.(889-894)atcaag>aag	p.I297del	CERK_ENST00000541677.1_In_Frame_Del_p.I99del	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	297					ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)			cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCACTGTCCTTGATGATGTCCCC	0.571																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.890_892delTCA	22.37:g.47095264_47095266delTGA	ENSP00000216264:p.Ile297del		A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	In_Frame_Del	DEL	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.I297in_frame_del	ENST00000216264.8	37	c.892_890	CCDS14077.1	22																																																																																			CERK	-	NULL	ENSG00000100422		0.571	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	211	0.00	0	TGA	NM_022766		47095261	47095263	-1	no_errors	ENST00000216264	ensembl	human	known	69_37n	in_frame_del	185	18.78	43	DEL	0.999:0.998:1.000	-
CES5A	221223	genome.wustl.edu	37	16	55907861	55907861	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr16:55907861C>T	ENST00000290567.9	-	2	283	c.162G>A	c.(160-162)gtG>gtA	p.V54V	CES5A_ENST00000319165.9_Silent_p.V54V|CES5A_ENST00000518005.1_5'UTR|CES5A_ENST00000520435.1_Silent_p.V54V|CES5A_ENST00000521992.1_Silent_p.V83V|CES5A_ENST00000541580.1_Intron	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	54						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GGAACACGTTCACAGGCACAG	0.612																																						dbGAP											0													86.0	74.0	78.0					16																	55907861		2198	4300	6498	-	-	-	SO:0001819	synonymous_variant	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.162G>A	16.37:g.55907861C>T			B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V83	ENST00000290567.9	37	c.249	CCDS45490.1	16																																																																																			CES5A	-	pfam_CarbesteraseB	ENSG00000159398		0.612	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	129	0.00	0	C	NM_145024		55907861	55907861	-1	no_errors	ENST00000521992	ensembl	human	known	69_37n	silent	59	18.06	13	SNP	0.757	T
CFTR	1080	genome.wustl.edu	37	7	117306992	117306992	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr7:117306992G>T	ENST00000003084.6	+	27	4405	c.4273G>T	c.(4273-4275)Gat>Tat	p.D1425Y	CFTR_ENST00000454343.1_Missense_Mutation_p.D1364Y	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1425	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	GCGGCAGTACGATTCCATCCA	0.547									Cystic Fibrosis																													dbGAP											0													59.0	51.0	54.0					7																	117306992		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.4273G>T	7.37:g.117306992G>T	ENSP00000003084:p.Asp1425Tyr		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel	p.D1425Y	ENST00000003084.6	37	c.4273	CCDS5773.1	7	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364612	0.82463	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.90620	-2.7;-2.7;-2.7	5.47	5.47	0.80525	ABC transporter-like (1);	0.299794	0.41294	D	0.000906	D	0.95376	0.8499	M	0.83774	2.66	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	D	0.95552	0.8621	10	0.87932	D	0	-5.6282	19.6975	0.96031	0.0:0.0:1.0:0.0	.	1425	P13569	CFTR_HUMAN	Y	1425;1364;1395	ENSP00000003084:D1425Y;ENSP00000403677:D1364Y;ENSP00000389119:D1395Y	ENSP00000003084:D1425Y	D	+	1	0	CFTR	117094228	1.000000	0.71417	0.128000	0.21923	0.879000	0.50718	7.212000	0.77941	2.729000	0.93468	0.557000	0.71058	GAT	CFTR	-	pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel	ENSG00000001626		0.547	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFTR	HGNC	protein_coding	OTTHUMT00000059397.3	93	0.00	0	G	NM_000492		117306992	117306992	+1	no_errors	ENST00000003084	ensembl	human	known	69_37n	missense	57	13.64	9	SNP	0.998	T
CLCN5	1184	genome.wustl.edu	37	X	49853534	49853534	+	Silent	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:49853534C>G	ENST00000307367.2	+	9	1818	c.1527C>G	c.(1525-1527)gcC>gcG	p.A509A	CLCN5_ENST00000376108.3_Silent_p.A509A|CLCN5_ENST00000376091.3_Silent_p.A579A|CLCN5_ENST00000376088.3_Silent_p.A579A			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	509					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GGGCTGCAGCCTGCTTAGGTG	0.448																																						dbGAP											0													80.0	71.0	74.0					X																	49853534		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1527C>G	X.37:g.49853534C>G			A1L475|B3KPN6|Q5JQD5|Q7RTN8	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-5	p.A579	ENST00000307367.2	37	c.1737	CCDS14328.1	X																																																																																			CLCN5	-	pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated	ENSG00000171365		0.448	CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN5	HGNC	protein_coding	OTTHUMT00000056544.1	202	0.00	0	C			49853534	49853534	+1	no_errors	ENST00000376088	ensembl	human	known	69_37n	silent	188	12.15	26	SNP	0.999	G
CNTNAP3B	728577	genome.wustl.edu	37	9	43844193	43844193	+	Silent	SNP	G	G	A	rs199599712		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr9:43844193G>A	ENST00000377564.3	+	10	1920	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	509	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCCTGGGAGGGTTTCAGGGCT	0.512																																						dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1527G>A	9.37:g.43844193G>A			B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G558D	ENST00000377564.3	37	c.1673	CCDS55312.1	9	.	.	.	.	.	.	.	.	.	.	g	6.455	0.452064	0.12283	.	.	ENSG00000154529	ENST00000377561	.	.	.	3.46	-6.92	0.01644	.	.	.	.	.	T	0.23649	0.0572	.	.	.	0.09310	P	0.999999858302	.	.	.	.	.	.	T	0.31364	-0.9946	4	0.87932	D	0	.	0.3865	0.00403	0.1991:0.2569:0.2484:0.2956	.	.	.	.	D	558	.	ENSP00000366784:G558D	G	+	2	0	CNTNAP3B	43784189	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	-2.927000	0.00690	-2.346000	0.00621	0.491000	0.48974	GGT	CNTNAP3B	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G	ENSG00000154529		0.512	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	HGNC	protein_coding	OTTHUMT00000036930.3	21	0.00	0	G			43844193	43844193	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000377561	ensembl	human	known	69_37n	missense	12	20.00	3	SNP	0.004	A
CTNNA1	1495	genome.wustl.edu	37	5	138260325	138260325	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr5:138260325C>T	ENST00000302763.7	+	12	1763	c.1673C>T	c.(1672-1674)tCa>tTa	p.S558L	CTNNA1_ENST00000355078.5_Missense_Mutation_p.S455L|CTNNA1_ENST00000518825.1_Missense_Mutation_p.S558L|CTNNA1_ENST00000540387.1_Missense_Mutation_p.S188L	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	558					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTAGTCACCTCAGAGATGGAC	0.547																																						dbGAP											0													55.0	49.0	51.0					5																	138260325		2203	4300	6503	-	-	-	SO:0001583	missense	0			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1673C>T	5.37:g.138260325C>T	ENSP00000304669:p.Ser558Leu		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.S558L	ENST00000302763.7	37	c.1673	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	22.9	4.354554	0.82243	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000540387	T;T;T;T	0.32753	1.44;1.44;1.44;1.44	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.36248	0.0960	L	0.61218	1.895	0.80722	D	1	P;P;B	0.48764	0.915;0.764;0.238	B;B;B	0.40375	0.327;0.267;0.129	T	0.22556	-1.0213	10	0.49607	T	0.09	-7.0706	19.7203	0.96139	0.0:1.0:0.0:0.0	.	558;435;558	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	L	455;558;558;543;558;188	ENSP00000347190:S455L;ENSP00000304669:S558L;ENSP00000427821:S558L;ENSP00000438476:S188L	ENSP00000304669:S558L	S	+	2	0	CTNNA1	138288224	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.959000	0.70339	2.832000	0.97577	0.655000	0.94253	TCA	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin	ENSG00000044115		0.547	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	118	0.00	0	C	NM_001903		138260325	138260325	+1	no_errors	ENST00000302763	ensembl	human	known	69_37n	missense	76	14.61	13	SNP	1.000	T
CYP2S1	29785	genome.wustl.edu	37	19	41707218	41707218	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr19:41707218C>T	ENST00000310054.4	+	6	1133	c.917C>T	c.(916-918)aCg>aTg	p.T306M	CYP2S1_ENST00000542619.1_Missense_Mutation_p.T31M	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	306					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGGACGATGACGGTCAGCACC	0.493																																						dbGAP											0													157.0	141.0	146.0					19																	41707218		2203	4300	6503	-	-	-	SO:0001583	missense	0			AA301039	CCDS12573.1	19q13.2	2013-11-11	2003-01-14		ENSG00000167600	ENSG00000167600		"""Cytochrome P450s"""	15654	protein-coding gene	gene with protein product		611529	"""cytochrome P450, subfamily IIS, polypeptide 1"""			11181079	Standard	NM_030622		Approved		uc002opw.3	Q96SQ9	OTTHUMG00000182721	ENST00000310054.4:c.917C>T	19.37:g.41707218C>T	ENSP00000308032:p.Thr306Met		Q9BZ66	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B	p.T306M	ENST00000310054.4	37	c.917	CCDS12573.1	19	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298122	0.60086	.	.	ENSG00000167600	ENST00000301173;ENST00000310054;ENST00000542619	D;D	0.87966	-2.32;-2.32	5.2	5.2	0.72013	.	0.127112	0.51477	D	0.000082	D	0.95332	0.8485	H	0.94808	3.585	0.34488	D	0.70461	D;D	0.89917	1.0;1.0	D;D	0.83275	0.995;0.996	D	0.99919	1.1240	10	0.87932	D	0	.	16.2815	0.82692	0.0:1.0:0.0:0.0	.	31;306	B4DJI0;Q96SQ9	.;CP2S1_HUMAN	M	306;306;31	ENSP00000308032:T306M;ENSP00000445299:T31M	ENSP00000301173:T306M	T	+	2	0	CYP2S1	46399058	1.000000	0.71417	0.019000	0.16419	0.447000	0.32167	4.756000	0.62205	2.433000	0.82419	0.478000	0.44815	ACG	CYP2S1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	ENSG00000167600		0.493	CYP2S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2S1	HGNC	protein_coding	OTTHUMT00000463287.1	193	0.00	0	C			41707218	41707218	+1	no_errors	ENST00000310054	ensembl	human	known	69_37n	missense	144	18.64	33	SNP	0.738	T
CYP7B1	9420	genome.wustl.edu	37	8	65509394	65509394	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr8:65509394delA	ENST00000310193.3	-	6	1499	c.1326delT	c.(1324-1326)tttfs	p.F442fs	CYP7B1_ENST00000523954.1_Intron	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	442					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TTCCAGTTCCAAACGGCATTA	0.333																																						dbGAP											0													62.0	63.0	63.0					8																	65509394		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1326delT	8.37:g.65509394delA	ENSP00000310721:p.Phe442fs		B2RN07|Q9UNF5	Frame_Shift_Del	DEL	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.F442fs	ENST00000310193.3	37	c.1326	CCDS6180.1	8																																																																																			CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	ENSG00000172817		0.333	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	141	0.00	0	A			65509394	65509394	-1	no_errors	ENST00000310193	ensembl	human	known	69_37n	frame_shift_del	230	11.49	30	DEL	1.000	-
DAPK1	1612	genome.wustl.edu	37	9	90322160	90322160	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr9:90322160T>A	ENST00000408954.3	+	26	4509	c.4174T>A	c.(4174-4176)Ttg>Atg	p.L1392M	DAPK1_ENST00000472284.1_Missense_Mutation_p.L1392M|DAPK1_ENST00000469640.2_Missense_Mutation_p.L1417M|DAPK1_ENST00000358077.5_Missense_Mutation_p.L1392M|DAPK1_ENST00000491893.1_Missense_Mutation_p.L1326M	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	1392	Death. {ECO:0000255|PROSITE- ProRule:PRU00064}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CGCAGACTTTTTGCTGAAGGC	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of																													dbGAP											0													35.0	38.0	37.0					9																	90322160		1921	4129	6050	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.4174T>A	9.37:g.90322160T>A	ENSP00000386135:p.Leu1392Met		B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt	p.L1417M	ENST00000408954.3	37	c.4249	CCDS43842.1	9	.	.	.	.	.	.	.	.	.	.	T	13.90	2.376496	0.42105	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	D;D;D;D;D	0.88354	-2.37;-2.37;-2.37;-2.37;-2.37	5.84	-3.41	0.04839	Death (3);DEATH-like (2);	0.000000	0.38005	N	0.001848	D	0.92831	0.7720	M	0.81112	2.525	0.42146	D	0.991539	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.998;0.999;0.998	D	0.91504	0.5221	10	0.72032	D	0.01	.	13.2537	0.60066	0.0:0.2238:0.0:0.7762	.	1326;1392;1392	B7ZLE7;P53355-3;P53355	.;.;DAPK1_HUMAN	M	1392;1392;1417;1392;1326	ENSP00000350785:L1392M;ENSP00000417076:L1392M;ENSP00000418885:L1417M;ENSP00000386135:L1392M;ENSP00000419026:L1326M	ENSP00000350785:L1392M	L	+	1	2	DAPK1	89511980	0.936000	0.31750	0.001000	0.08648	0.583000	0.36354	1.706000	0.37878	-0.621000	0.05633	-0.468000	0.05107	TTG	DAPK1	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	ENSG00000196730		0.577	DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DAPK1	HGNC	protein_coding	OTTHUMT00000356843.1	65	0.00	0	T	NM_004938		90322160	90322160	+1	no_errors	ENST00000469640	ensembl	human	known	69_37n	missense	25	21.88	7	SNP	0.255	A
DAB2IP	153090	genome.wustl.edu	37	9	124528856	124528856	+	Missense_Mutation	SNP	G	G	A	rs141771432		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr9:124528856G>A	ENST00000408936.3	+	9	1726	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	DAB2IP_ENST00000309989.1_Missense_Mutation_p.R391Q|DAB2IP_ENST00000259371.2_Missense_Mutation_p.R487Q			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	515	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						ATCAGTGAGCGGCTCATCAGC	0.617													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18281	0.0		0.0	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001583	missense	0			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1544G>A	9.37:g.124528856G>A	ENSP00000386183:p.Arg515Gln		A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP	p.R515Q	ENST00000408936.3	37	c.1544		9	.	.	.	.	.	.	.	.	.	.	G	36	5.599010	0.96614	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	D	0.85745	0.5768	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.87603	0.2498	10	0.87932	D	0	.	16.7843	0.85570	0.0:0.0:1.0:0.0	.	487	G3XA90	.	Q	487;515;424;391	ENSP00000259371:R487Q;ENSP00000386183:R515Q;ENSP00000362887:R424Q;ENSP00000310827:R391Q	ENSP00000259371:R487Q	R	+	2	0	DAB2IP	123568677	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.813000	0.99286	2.256000	0.74724	0.655000	0.94253	CGG	DAB2IP	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP	ENSG00000136848		0.617	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	HGNC	protein_coding	OTTHUMT00000317857.1	65	0.00	0	G	NM_032552		124528856	124528856	+1	no_errors	ENST00000408936	ensembl	human	known	69_37n	missense	41	19.61	10	SNP	1.000	A
DNAJC5	80331	genome.wustl.edu	37	20	62560669	62560669	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr20:62560669C>T	ENST00000360864.4	+	3	265	c.112C>T	c.(112-114)Ctt>Ttt	p.L38F	DNAJC5_ENST00000369911.2_Missense_Mutation_p.L38F	NM_025219.2	NP_079495.1	Q9H3Z4	DNJC5_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 5	38	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.				cell death (GO:0008219)|exocytosis (GO:0006887)|negative regulation of neuron apoptotic process (GO:0043524)|neurotransmitter secretion (GO:0007269)|regulated secretory pathway (GO:0045055)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)				cervix(1)|endometrium(1)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)	5	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGCAGGAAGCTTGCCTTGAA	0.617																																						dbGAP											0													92.0	69.0	77.0					20																	62560669		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13546.1	20q13.33	2014-09-17			ENSG00000101152	ENSG00000101152		"""Heat shock proteins / DNAJ (HSP40)"""	16235	protein-coding gene	gene with protein product		611203	"""ceroid-lipofuscinosis, neuronal 4 (Kufs disease)"""	CLN4			Standard	NM_025219		Approved	FLJ00118, FLJ13070, DNAJC5A	uc002yhf.3	Q9H3Z4	OTTHUMG00000033007	ENST00000360864.4:c.112C>T	20.37:g.62560669C>T	ENSP00000354111:p.Leu38Phe		A8K0M0|B3KY68|E1P5G8|Q9H3Z5|Q9H7H2	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.L38F	ENST00000360864.4	37	c.112	CCDS13546.1	20	.	.	.	.	.	.	.	.	.	.	C	21.6	4.180573	0.78677	.	.	ENSG00000101152	ENST00000369911;ENST00000360864	T;T	0.47528	0.84;0.84	5.29	4.35	0.52113	Heat shock protein DnaJ, N-terminal (5);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.85945	2.785	0.80722	D	1	D;D	0.71674	0.97;0.998	D;D	0.74674	0.955;0.984	T	0.73151	-0.4073	10	0.87932	D	0	.	10.3066	0.43685	0.0:0.8483:0.0:0.1517	.	38;38	Q9H3Z4-2;Q9H3Z4	.;DNJC5_HUMAN	F	38	ENSP00000358927:L38F;ENSP00000354111:L38F	ENSP00000354111:L38F	L	+	1	0	DNAJC5	62031113	1.000000	0.71417	0.955000	0.39395	0.973000	0.67179	3.251000	0.51453	1.365000	0.46057	0.650000	0.86243	CTT	DNAJC5	-	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	ENSG00000101152		0.617	DNAJC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC5	HGNC	protein_coding	OTTHUMT00000080244.1	82	0.00	0	C	NM_025219		62560669	62560669	+1	no_errors	ENST00000360864	ensembl	human	known	69_37n	missense	121	20.39	31	SNP	1.000	T
EIF4G1	1981	genome.wustl.edu	37	3	184035137	184035137	+	Missense_Mutation	SNP	C	C	T	rs571849011		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr3:184035137C>T	ENST00000346169.2	+	5	447	c.176C>T	c.(175-177)cCg>cTg	p.P59L	EIF4G1_ENST00000342981.4_Missense_Mutation_p.P59L|EIF4G1_ENST00000424196.1_Missense_Mutation_p.P66L|EIF4G1_ENST00000350481.5_Intron|EIF4G1_ENST00000319274.6_Missense_Mutation_p.P59L|EIF4G1_ENST00000352767.3_Missense_Mutation_p.P66L|EIF4G1_ENST00000382330.3_Missense_Mutation_p.P66L|EIF4G1_ENST00000441154.1_5'Flank|EIF4G1_ENST00000427845.1_5'UTR|EIF4G1_ENST00000392537.2_5'UTR|EIF4G1_ENST00000414031.1_Missense_Mutation_p.P19L|EIF4G1_ENST00000434061.2_5'Flank|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000411531.1_Missense_Mutation_p.P19L	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	59					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCCAGCCCCCGAGCAGTGCA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		18438	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													79.0	94.0	89.0					3																	184035137		2203	4300	6503	-	-	-	SO:0001583	missense	0			D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.176C>T	3.37:g.184035137C>T	ENSP00000316879:p.Pro59Leu		D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.P66L	ENST00000346169.2	37	c.197	CCDS3259.1	3	.	.	.	.	.	.	.	.	.	.	C	26.6	4.754447	0.89843	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000455679;ENST00000440448;ENST00000352767;ENST00000427141;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000456033;ENST00000411531	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	5.21	5.21	0.72293	.	0.458064	0.24352	N	0.039268	T	0.34716	0.0907	L	0.55990	1.75	0.80722	D	1	P;P;P	0.38300	0.626;0.626;0.626	B;B;B	0.29077	0.098;0.098;0.098	T	0.34428	-0.9829	10	0.59425	D	0.04	-11.0173	18.9545	0.92653	0.0:1.0:0.0:0.0	.	66;59;59	E9PFM1;D3DNT2;Q04637	.;.;IF4G1_HUMAN	L	59;19;59;66;66;19;59;66;26;59;59;66;19;19	ENSP00000316879:P59L;ENSP00000391935:P19L;ENSP00000391412:P59L;ENSP00000413159:P66L;ENSP00000371767:P66L;ENSP00000415842:P19L;ENSP00000407240:P59L;ENSP00000338020:P66L;ENSP00000411214:P26L;ENSP00000343450:P59L;ENSP00000323737:P59L;ENSP00000416255:P66L;ENSP00000415943:P19L;ENSP00000395974:P19L	ENSP00000323737:P59L	P	+	2	0	EIF4G1	185517831	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.000000	0.63940	2.702000	0.92279	0.655000	0.94253	CCG	EIF4G1	-	NULL	ENSG00000114867		0.587	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	EIF4G1	HGNC	protein_coding	OTTHUMT00000345733.1	77	0.00	0	C	NM_182917		184035137	184035137	+1	no_errors	ENST00000352767	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	0.998	T
EP300	2033	genome.wustl.edu	37	22	41489026	41489026	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr22:41489026G>A	ENST00000263253.7	+	1	1237	c.18G>A	c.(16-18)gtG>gtA	p.V6V	MIR1281_ENST00000408233.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	6	Interaction with ALX1.|Interaction with RORA.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGAATGTGGTGGAACCGGGGC	0.602			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													dbGAP		Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													75.0	89.0	85.0					22																	41489026		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.18G>A	22.37:g.41489026G>A			B1AKC2	Silent	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V6	ENST00000263253.7	37	c.18	CCDS14010.1	22																																																																																			EP300	-	NULL	ENSG00000100393		0.602	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	52	0.00	0	G	NM_001429		41489026	41489026	+1	no_errors	ENST00000263253	ensembl	human	known	69_37n	silent	72	10.00	8	SNP	1.000	A
EPHB2	2048	genome.wustl.edu	37	1	23111019	23111019	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:23111019C>T	ENST00000400191.3	+	3	279	c.261C>T	c.(259-261)caC>caT	p.H87H	EPHB2_ENST00000374630.3_Silent_p.H87H|EPHB2_ENST00000374632.3_Silent_p.H87H|EPHB2_ENST00000374627.1_Silent_p.H81H|EPHB2_ENST00000544305.1_Silent_p.H87H	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	87	Eph LBD. {ECO:0000255|PROSITE- ProRule:PRU00883}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|camera-type eye morphogenesis (GO:0048593)|central nervous system projection neuron axonogenesis (GO:0021952)|commissural neuron axon guidance (GO:0071679)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|ephrin receptor signaling pathway (GO:0048013)|inner ear morphogenesis (GO:0042472)|learning (GO:0007612)|negative regulation of axonogenesis (GO:0050771)|nervous system development (GO:0007399)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse assembly (GO:0051965)|regulation of body fluid levels (GO:0050878)|retinal ganglion cell axon guidance (GO:0031290)|urogenital system development (GO:0001655)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|protein tyrosine kinase activity (GO:0004713)|transmembrane-ephrin receptor activity (GO:0005005)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		ACCGCATCCACGTGGAGATGA	0.567																																						dbGAP											0													62.0	56.0	58.0					1																	23111019		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF025304	CCDS229.2, CCDS230.1	1p36.1-p35	2014-09-17	2004-10-28		ENSG00000133216	ENSG00000133216	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3393	protein-coding gene	gene with protein product		600997	"""EphB2"""	DRT, ERK, EPHT3		1648701	Standard	NM_017449		Approved	Hek5, Tyro5	uc001bge.3	P29323	OTTHUMG00000002881	ENST00000400191.3:c.261C>T	1.37:g.23111019C>T			O43477|Q5T0U6|Q5T0U7|Q5T0U8	Silent	SNP	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom	p.H87	ENST00000400191.3	37	c.261		1																																																																																			EPHB2	-	pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom	ENSG00000133216		0.567	EPHB2-001	KNOWN	basic	protein_coding	EPHB2	HGNC	protein_coding	OTTHUMT00000008060.2	90	0.00	0	C	NM_017449		23111019	23111019	+1	no_errors	ENST00000400191	ensembl	human	known	69_37n	silent	50	20.63	13	SNP	0.971	T
ERP29	10961	genome.wustl.edu	37	12	112457615	112457615	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:112457615G>A	ENST00000261735.3	+	2	350	c.200G>A	c.(199-201)gGt>gAt	p.G67D	ERP29_ENST00000455836.1_Intron|ERP29_ENST00000546477.1_5'UTR	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	67					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)			cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						TACCCCTACGGTGAGAAGCAG	0.527																																						dbGAP											0													112.0	96.0	102.0					12																	112457615		2203	4300	6503	-	-	-	SO:0001583	missense	0			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.200G>A	12.37:g.112457615G>A	ENSP00000261735:p.Gly67Asp		C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.G67D	ENST00000261735.3	37	c.200	CCDS9158.1	12	.	.	.	.	.	.	.	.	.	.	G	15.49	2.848801	0.51164	.	.	ENSG00000089248	ENST00000261735;ENST00000552052	.	.	.	5.59	5.59	0.84812	ERp29, N-terminal (1);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	D	0.83261	0.5216	M	0.84683	2.71	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.79862	-0.1624	9	0.18276	T	0.48	-8.0105	19.5874	0.95495	0.0:0.0:1.0:0.0	.	67	P30040	ERP29_HUMAN	D	67;64	.	ENSP00000261735:G67D	G	+	2	0	ERP29	110941998	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.622000	0.88805	0.655000	0.94253	GGT	ERP29	-	pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	ENSG00000089248		0.527	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1	239	0.00	0	G			112457615	112457615	+1	no_errors	ENST00000261735	ensembl	human	known	69_37n	missense	186	16.59	37	SNP	1.000	A
FAM155A	728215	genome.wustl.edu	37	13	107822931	107822931	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr13:107822931G>C	ENST00000375915.2	-	3	1429	c.1291C>G	c.(1291-1293)Ctc>Gtc	p.L431V		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	431						integral component of membrane (GO:0016021)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GAGGCTGTGAGCACTGTGTGT	0.512																																						dbGAP											0													202.0	144.0	164.0					13																	107822931		2203	4300	6503	-	-	-	SO:0001583	missense	0			L10374	CCDS32006.1	13q33.3	2008-04-15			ENSG00000204442	ENSG00000204442			33877	protein-coding gene	gene with protein product							Standard	NM_001080396		Approved		uc001vql.3	B1AL88	OTTHUMG00000017326	ENST00000375915.2:c.1291C>G	13.37:g.107822931G>C	ENSP00000365080:p.Leu431Val		B2RUV1|B7Z334	Missense_Mutation	SNP	NULL	p.L431V	ENST00000375915.2	37	c.1291	CCDS32006.1	13	.	.	.	.	.	.	.	.	.	.	G	9.938	1.216768	0.22373	.	.	ENSG00000204442	ENST00000375915	.	.	.	5.7	5.7	0.88788	.	0.303170	0.32548	N	0.005941	T	0.56232	0.1971	N	0.11560	0.145	0.46096	D	0.998862	D	0.89917	1.0	D	0.83275	0.996	T	0.48958	-0.8988	9	0.02654	T	1	.	19.0063	0.92852	0.0:0.0:1.0:0.0	.	431	B1AL88	F155A_HUMAN	V	431	.	ENSP00000365080:L431V	L	-	1	0	FAM155A	106620932	1.000000	0.71417	0.975000	0.42487	0.843000	0.47879	6.268000	0.72552	2.723000	0.93209	0.638000	0.83543	CTC	FAM155A	-	NULL	ENSG00000204442		0.512	FAM155A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155A	HGNC	protein_coding	OTTHUMT00000045736.2	355	0.00	0	G	NM_001080396		107822931	107822931	-1	no_errors	ENST00000375915	ensembl	human	known	69_37n	missense	122	34.57	65	SNP	1.000	C
FAM192A	80011	genome.wustl.edu	37	16	57188374	57188374	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr16:57188374G>A	ENST00000309137.8	-	7	851	c.593C>T	c.(592-594)cCc>cTc	p.P198L	FAM192A_ENST00000569266.1_Missense_Mutation_p.P198L|FAM192A_ENST00000564108.1_Missense_Mutation_p.P198L|FAM192A_ENST00000566077.1_Missense_Mutation_p.P121L|FAM192A_ENST00000567439.1_Missense_Mutation_p.P198L|FAM192A_ENST00000389447.5_Missense_Mutation_p.P198L	NM_024946.2	NP_079222.1	Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A	198						nucleus (GO:0005634)				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						GTGGATGGAGGGGCCACTCAG	0.572																																						dbGAP											0													38.0	44.0	42.0					16																	57188374		1989	4169	6158	-	-	-	SO:0001583	missense	0				CCDS42168.1	16q13	2009-08-19	2009-08-19	2009-08-19		ENSG00000172775			29856	protein-coding gene	gene with protein product	"""NEFA interacting nuclear protein NIP30"""		"""chromosome 16 open reading frame 94"""	C16orf94		12477932	Standard	NM_024946		Approved	NIP30	uc021tiy.1	Q9GZU8		ENST00000309137.8:c.593C>T	16.37:g.57188374G>A	ENSP00000335808:p.Pro198Leu			Missense_Mutation	SNP	pfam_Nefa_Nip30_N	p.P198L	ENST00000309137.8	37	c.593	CCDS42168.1	16	.	.	.	.	.	.	.	.	.	.	G	16.66	3.184964	0.57909	.	.	ENSG00000172775	ENST00000309137;ENST00000389447	.	.	.	5.15	5.15	0.70609	.	0.503984	0.23660	N	0.045832	T	0.48840	0.1522	N	0.14661	0.345	0.58432	D	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.40194	-0.9576	9	0.45353	T	0.12	-2.1285	18.8328	0.92148	0.0:0.0:1.0:0.0	.	198	Q9GZU8	F192A_HUMAN	L	198	.	ENSP00000335808:P198L	P	-	2	0	FAM192A	55745875	1.000000	0.71417	0.894000	0.35097	0.956000	0.61745	6.564000	0.73969	2.677000	0.91161	0.563000	0.77884	CCC	FAM192A	-	NULL	ENSG00000172775		0.572	FAM192A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM192A	HGNC	protein_coding	OTTHUMT00000433022.2	109	0.00	0	G	NM_024946		57188374	57188374	-1	no_errors	ENST00000309137	ensembl	human	known	69_37n	missense	80	18.37	18	SNP	0.852	A
BRINP2	57795	genome.wustl.edu	37	1	177199234	177199234	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:177199234C>T	ENST00000361539.4	+	2	534	c.222C>T	c.(220-222)ttC>ttT	p.F74F		NM_021165.2	NP_066988.1	Q9C0B6	BRNP2_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 2	74					cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	extracellular region (GO:0005576)											ATGCTGACTTCATGGAGCGGT	0.617																																						dbGAP											0													58.0	63.0	61.0					1																	177199234		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS1320.1	1q24	2013-08-06	2013-08-06	2013-07-31	ENSG00000198797	ENSG00000198797			13746	protein-coding gene	gene with protein product			"""family with sequence similarity 5, member B"""	FAM5B		15193423	Standard	NM_021165		Approved	DBCCR1L2	uc001glf.3	Q9C0B6	OTTHUMG00000034953	ENST00000361539.4:c.222C>T	1.37:g.177199234C>T			O95560|Q6ZWC1|Q7LCZ9|Q8N360	Silent	SNP	pfam_MACPF,smart_MACPF	p.F74	ENST00000361539.4	37	c.222	CCDS1320.1	1																																																																																			FAM5B	-	NULL	ENSG00000198797		0.617	BRINP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM5B	HGNC	protein_coding	OTTHUMT00000084599.1	26	0.00	0	C	NM_021165		177199234	177199234	+1	no_errors	ENST00000361539	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	1.000	T
FAM98B	283742	genome.wustl.edu	37	15	38757568	38757568	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr15:38757568C>T	ENST00000491535.1	+	3	324	c.316C>T	c.(316-318)Cgt>Tgt	p.R106C	FAM98B_ENST00000397609.2_Missense_Mutation_p.R106C	NM_001042429.1	NP_001035894.1	Q52LJ0	FA98B_HUMAN	family with sequence similarity 98, member B	106						cytoplasm (GO:0005737)|nucleus (GO:0005634)|tRNA-splicing ligase complex (GO:0072669)	poly(A) RNA binding (GO:0044822)			endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8		all_cancers(109;3.11e-17)|all_epithelial(112;2.64e-15)|Lung NSC(122;2.11e-11)|all_lung(180;5.61e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;9e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0209)		TATTAAAGATCGTTTAAAAAA	0.323																																						dbGAP											0													60.0	64.0	62.0					15																	38757568		2200	4287	6487	-	-	-	SO:0001583	missense	0				CCDS10047.2	15q14	2006-11-29		2005-11-20	ENSG00000171262	ENSG00000171262			26773	protein-coding gene	gene with protein product						12477932	Standard	NM_173611		Approved	FLJ38426	uc001zkc.3	Q52LJ0	OTTHUMG00000129831	ENST00000491535.1:c.316C>T	15.37:g.38757568C>T	ENSP00000453166:p.Arg106Cys		A8MUW5|Q8N935	Missense_Mutation	SNP	pfam_Uncharacterised_FAM98	p.R106C	ENST00000491535.1	37	c.316	CCDS42015.1	15	.	.	.	.	.	.	.	.	.	.	C	18.80	3.700567	0.68501	.	.	ENSG00000171262	ENST00000397609;ENST00000305752	T	0.51325	0.71	4.8	4.8	0.61643	.	0.307133	0.38897	N	0.001525	T	0.67683	0.2919	M	0.82823	2.61	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.69479	0.959;0.964	T	0.71328	-0.4626	10	0.66056	D	0.02	-8.2981	11.3383	0.49518	0.3052:0.6948:0.0:0.0	.	106;106	A8MUW5;Q52LJ0	.;FA98B_HUMAN	C	106	ENSP00000380734:R106C	ENSP00000303412:R106C	R	+	1	0	FAM98B	36544860	0.852000	0.29690	0.991000	0.47740	0.996000	0.88848	1.122000	0.31295	2.669000	0.90835	0.650000	0.86243	CGT	FAM98B	-	pfam_Uncharacterised_FAM98	ENSG00000171262		0.323	FAM98B-002	KNOWN	basic|CCDS	protein_coding	FAM98B	HGNC	protein_coding	OTTHUMT00000252071.2	248	0.00	0	C	NM_173611		38757568	38757568	+1	no_errors	ENST00000397609	ensembl	human	known	69_37n	missense	123	28.49	49	SNP	0.958	T
FCGRT	2217	genome.wustl.edu	37	19	50017360	50017360	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr19:50017360C>T	ENST00000221466.5	+	3	781	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	FCGRT_ENST00000594823.1_3'UTR|FCGRT_ENST00000599988.1_Intron|FCGRT_ENST00000596975.1_Silent_p.L99L|FCGRT_ENST00000426395.3_Silent_p.L99L	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	99	Alpha-1.				antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GAAGCTCTTTCTGGAAGCTTT	0.592																																						dbGAP											0													31.0	36.0	34.0					19																	50017360		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.295C>T	19.37:g.50017360C>T			Q5HYM5|Q9HBV7|Q9NZ19	Silent	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.L99	ENST00000221466.5	37	c.295	CCDS12770.1	19																																																																																			FCGRT	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	ENSG00000104870		0.592	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGRT	HGNC	protein_coding	OTTHUMT00000465267.1	108	0.00	0	C			50017360	50017360	+1	no_errors	ENST00000221466	ensembl	human	known	69_37n	silent	86	13.13	13	SNP	0.002	T
FLNA	2316	genome.wustl.edu	37	X	153580968	153580968	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:153580968G>A	ENST00000369850.3	-	40	6691	c.6455C>T	c.(6454-6456)tCa>tTa	p.S2152L	FLNA_ENST00000422373.1_Missense_Mutation_p.S2144L|FLNA_ENST00000360319.4_Missense_Mutation_p.S2144L|FLNA_ENST00000498491.1_5'Flank|FLNA_ENST00000344736.4_Missense_Mutation_p.S2112L|FLNA_ENST00000369856.3_Missense_Mutation_p.S285L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	2152					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTGGCCACTGAAGGAGCCCG	0.632																																						dbGAP											0													41.0	42.0	42.0					X																	153580968		1944	4135	6079	-	-	-	SO:0001583	missense	0			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.6455C>T	X.37:g.153580968G>A	ENSP00000358866:p.Ser2152Leu		E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S2152L	ENST00000369850.3	37	c.6455	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	26.7	4.767535	0.90020	.	.	ENSG00000196924	ENST00000360319;ENST00000422373;ENST00000369850;ENST00000369856;ENST00000344736	D;D;D;T;D	0.86366	-2.1;-2.1;-2.09;-0.88;-2.11	5.64	5.64	0.86602	Immunoglobulin E-set (1);	0.000000	0.64402	D	0.000002	D	0.92763	0.7699	M	0.90145	3.09	0.80722	D	1	D;P;D;D	0.58620	0.959;0.834;0.983;0.983	P;B;P;P	0.51170	0.661;0.239;0.635;0.635	D	0.94078	0.7341	10	0.72032	D	0.01	.	18.7428	0.91780	0.0:0.0:1.0:0.0	.	285;2144;2152;2152	E9PHF0;P21333-2;P21333;E9KL45	.;.;FLNA_HUMAN;.	L	2144;2144;2152;285;2112	ENSP00000353467:S2144L;ENSP00000416926:S2144L;ENSP00000358866:S2152L;ENSP00000358872:S285L;ENSP00000358863:S2112L	ENSP00000358863:S2112L	S	-	2	0	FLNA	153234162	1.000000	0.71417	0.403000	0.26384	0.948000	0.59901	9.776000	0.99001	2.372000	0.80975	0.513000	0.50165	TCA	FLNA	-	superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000196924		0.632	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	65	0.00	0	G			153580968	153580968	-1	no_errors	ENST00000369850	ensembl	human	known	69_37n	missense	50	15.25	9	SNP	0.997	A
GAL	51083	genome.wustl.edu	37	11	68458384	68458384	+	Splice_Site	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr11:68458384G>A	ENST00000265643.3	+	6	559		c.e6-1			NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide						cAMP-mediated signaling (GO:0019933)|feeding behavior (GO:0007631)|inflammatory response (GO:0006954)|insulin secretion (GO:0030073)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of root hair elongation (GO:1902891)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catagen (GO:0051795)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein kinase A signaling (GO:0010737)|regulation of glucocorticoid metabolic process (GO:0031943)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to insulin (GO:0032868)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|secretory granule (GO:0030141)	neuropeptide hormone activity (GO:0005184)|type 1 galanin receptor binding (GO:0031764)|type 2 galanin receptor binding (GO:0031765)|type 3 galanin receptor binding (GO:0031766)			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		TCCCTTTGCAGAGGCCGGTGC	0.577																																						dbGAP											0													56.0	58.0	58.0					11																	68458384		2200	4294	6494	-	-	-	SO:0001630	splice_region_variant	0			L11144	CCDS8183.1	11q13.2	2013-02-26	2012-10-23		ENSG00000069482	ENSG00000069482		"""Endogenous ligands"""	4114	protein-coding gene	gene with protein product	"""galanin-message-associated peptide"", ""galanin/GMAP prepropeptide"""	137035	"""galanin"", ""galanin prepropeptide"""	GALN		7508413	Standard	XM_006718580		Approved	GMAP, GAL-GMAP, GLNN	uc001oob.3	P22466	OTTHUMG00000167890	ENST00000265643.3:c.302-1G>A	11.37:g.68458384G>A			Q14413	Splice_Site	SNP	-	e5-1	ENST00000265643.3	37	c.302-1	CCDS8183.1	11	.	.	.	.	.	.	.	.	.	.	G	8.653	0.898642	0.17686	.	.	ENSG00000069482	ENST00000265643	.	.	.	3.85	3.85	0.44370	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4729	0.50280	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GAL	68214960	1.000000	0.71417	0.954000	0.39281	0.015000	0.08874	3.522000	0.53480	2.150000	0.67090	0.561000	0.74099	.	GAL	-	-	ENSG00000069482		0.577	GAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAL	HGNC	protein_coding	OTTHUMT00000396843.2	91	0.00	0	G	NM_001479	Intron	68458384	68458384	+1	no_errors	ENST00000265643	ensembl	human	known	69_37n	splice_site	80	12.09	11	SNP	0.991	A
GJA10	84694	genome.wustl.edu	37	6	90604284	90604284	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr6:90604284C>T	ENST00000369352.1	+	1	97	c.97C>T	c.(97-99)Cga>Tga	p.R33*		NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	33					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTTCATCTTCCGAATGCTGGT	0.507																																						dbGAP											0													129.0	117.0	121.0					6																	90604284		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.97C>T	6.37:g.90604284C>T	ENSP00000358358:p.Arg33*		B2R722|B3KVQ2|Q5TA63|Q96KG0	Nonsense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.R33*	ENST00000369352.1	37	c.97	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922995	0.92319	.	.	ENSG00000135355	ENST00000369352	.	.	.	4.79	3.91	0.45181	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.0556	0.71910	0.0:0.8573:0.1427:0.0	.	.	.	.	X	33	.	ENSP00000358358:R33X	R	+	1	2	GJA10	90661005	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.843000	0.55865	1.237000	0.43756	0.557000	0.71058	CGA	GJA10	-	pfam_Connexin_N,prints_Connexin	ENSG00000135355		0.507	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	277	0.36	1	C	NM_032602		90604284	90604284	+1	no_errors	ENST00000369352	ensembl	human	known	69_37n	nonsense	99	27.21	37	SNP	1.000	T
GOLGA3	2802	genome.wustl.edu	37	12	133351861	133351861	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:133351861C>A	ENST00000450791.2	-	21	4192	c.4009G>T	c.(4009-4011)Gaa>Taa	p.E1337*	GOLGA3_ENST00000204726.3_Nonsense_Mutation_p.E1337*|GOLGA3_ENST00000456883.2_Nonsense_Mutation_p.E1337*			Q08378	GOGA3_HUMAN	golgin A3	1337	Gln-rich.				intra-Golgi vesicle-mediated transport (GO:0006891)	cytosol (GO:0005829)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GACAGGTCTTCCTGGGCCATC	0.453																																						dbGAP											0													95.0	86.0	89.0					12																	133351861		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF485338	CCDS9281.1, CCDS53846.1	12q24.33	2010-02-12	2010-02-12		ENSG00000090615	ENSG00000090615			4426	protein-coding gene	gene with protein product	"""SY2/SY10 protein"", ""Golgi complex-associated protein of 170 kD"""	602581	"""golgi autoantigen, golgin subfamily a, 3"""			8315394, 15829563	Standard	NM_001172557		Approved	golgin-160, GCP170, MEA-2	uc001ukz.1	Q08378	OTTHUMG00000168023	ENST00000450791.2:c.4009G>T	12.37:g.133351861C>A	ENSP00000410378:p.Glu1337*		A5PKX6|O43241|Q6P9C7|Q86XW3|Q8TDA9|Q8WZA3	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.E1337*	ENST00000450791.2	37	c.4009	CCDS9281.1	12	.	.	.	.	.	.	.	.	.	.	C	46	12.819546	0.99698	.	.	ENSG00000090615	ENST00000204726;ENST00000450791;ENST00000456883	.	.	.	6.07	5.17	0.71159	.	0.231867	0.49916	D	0.000126	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	14.8046	0.69942	0.0:0.9317:0.0:0.0683	.	.	.	.	X	1337	.	ENSP00000204726:E1337X	E	-	1	0	GOLGA3	131861934	1.000000	0.71417	0.995000	0.50966	0.350000	0.29205	5.730000	0.68546	2.884000	0.98904	0.655000	0.94253	GAA	GOLGA3	-	NULL	ENSG00000090615		0.453	GOLGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GOLGA3	HGNC	protein_coding	OTTHUMT00000397569.2	258	0.00	0	C	NM_005895		133351861	133351861	-1	no_errors	ENST00000204726	ensembl	human	known	69_37n	nonsense	169	14.65	29	SNP	1.000	A
GPR143	4935	genome.wustl.edu	37	X	9714090	9714090	+	Missense_Mutation	SNP	T	T	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:9714090T>A	ENST00000467482.1	-	5	798	c.652A>T	c.(652-654)Act>Tct	p.T218S	GPR143_ENST00000380929.2_Missense_Mutation_p.T238S			P51810	GP143_HUMAN	G protein-coupled receptor 143	218					calcium-mediated signaling using intracellular calcium source (GO:0035584)|eye pigment biosynthetic process (GO:0006726)|G-protein coupled receptor signaling pathway (GO:0007186)|melanosome localization (GO:0032400)|melanosome organization (GO:0032438)|melanosome transport (GO:0032402)|neuropeptide signaling pathway (GO:0007218)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of calcium-mediated signaling (GO:0050848)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|melanosome (GO:0042470)|melanosome membrane (GO:0033162)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|G-protein coupled receptor activity (GO:0004930)|L-DOPA binding (GO:0072544)|L-DOPA receptor activity (GO:0035643)|tyrosine binding (GO:0072545)			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TTACCTGCAGTCACTGTCTTT	0.592																																						dbGAP											0													99.0	73.0	82.0					X																	9714090		2203	4299	6502	-	-	-	SO:0001583	missense	0			Z48804	CCDS14134.1, CCDS14134.2	Xp22.3	2013-09-27	2003-12-01		ENSG00000101850	ENSG00000101850		"""GPCR / Unclassified : 7TM orphan receptors"""	20145	protein-coding gene	gene with protein product	"""ocular albinism 1"""	300808	"""ocular albinism 1 (Nettleship-Falls)"""	OA1		7647783, 10471510	Standard	NM_000273		Approved		uc004cst.2	P51810	OTTHUMG00000021118	ENST00000467482.1:c.652A>T	X.37:g.9714090T>A	ENSP00000417161:p.Thr218Ser		Q6NTI7	Missense_Mutation	SNP	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1	p.T238S	ENST00000467482.1	37	c.712	CCDS14134.2	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.732|0.732	-0.779638|-0.779638	0.02929|0.02929	.|.	.|.	ENSG00000101850|ENSG00000101850	ENST00000447366|ENST00000467482;ENST00000380929;ENST00000431126	.|D;D;D	.|0.99277	.|-5.67;-5.67;-5.67	5.11|5.11	-0.354|-0.354	0.12591|0.12591	.|.	.|0.640001	.|0.17170	.|N	.|0.184318	D|D	0.96614|0.96614	0.8895|0.8895	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	.|B	.|0.24092	.|0.097	.|B	.|0.20767	.|0.031	D|D	0.91892|0.91892	0.5524|0.5524	5|10	.|0.21540	.|T	.|0.41	-6.6846|-6.6846	4.4257|4.4257	0.11501|0.11501	0.1483:0.346:0.0:0.5057|0.1483:0.346:0.0:0.5057	.|.	.|218	.|P51810	.|GP143_HUMAN	V|S	153|218;238;134	.|ENSP00000417161:T218S;ENSP00000370316:T238S;ENSP00000406138:T134S	.|ENSP00000370316:T238S	D|T	-|-	2|1	0|0	GPR143|GPR143	9674090|9674090	0.027000|0.027000	0.19231|0.19231	0.024000|0.024000	0.17045|0.17045	0.457000|0.457000	0.32468|0.32468	0.290000|0.290000	0.18975|0.18975	-0.471000|-0.471000	0.06891|0.06891	-0.368000|-0.368000	0.07277|0.07277	GAC|ACT	GPR143	-	pfam_Ocular_alb1,pfam_GPCR_2_secretin-like	ENSG00000101850		0.592	GPR143-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR143	HGNC	protein_coding	OTTHUMT00000055714.2	171	0.00	0	T	NM_000273		9714090	9714090	-1	no_errors	ENST00000380929	ensembl	human	known	69_37n	missense	97	13.27	15	SNP	0.002	A
GRIA4	2893	genome.wustl.edu	37	11	105481745	105481745	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr11:105481745G>C	ENST00000530497.1	+	1	21	c.21G>C	c.(19-21)caG>caC	p.Q7H	GRIA4_ENST00000428631.2_Missense_Mutation_p.Q7H|GRIA4_ENST00000393127.2_Missense_Mutation_p.Q7H|GRIA4_ENST00000527669.1_Missense_Mutation_p.Q7H|GRIA4_ENST00000282499.5_Missense_Mutation_p.Q7H|GRIA4_ENST00000393125.2_Missense_Mutation_p.Q7H|GRIA4_ENST00000525187.1_Missense_Mutation_p.Q7H			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	7					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		TTTCCAGACAGATTGTCTTGT	0.502																																						dbGAP											0													141.0	129.0	133.0					11																	105481745		2202	4299	6501	-	-	-	SO:0001583	missense	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.21G>C	11.37:g.105481745G>C	ENSP00000435775:p.Gln7His		Q86XE8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.Q7H	ENST00000530497.1	37	c.21	CCDS8333.1	11	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866533	0.32977	.	.	ENSG00000152578	ENST00000527177;ENST00000393125;ENST00000531986;ENST00000282499;ENST00000393127;ENST00000527669;ENST00000525921;ENST00000428631;ENST00000531011;ENST00000530497;ENST00000525187	T;T;T;T;T;T	0.18174	2.23;2.83;2.67;2.23;2.83;2.67	4.9	3.99	0.46301	.	0.000000	0.52532	D	0.000078	T	0.13756	0.0333	L	0.36672	1.1	0.40356	D	0.979183	B;B;B;B;B	0.28584	0.0;0.0;0.0;0.0;0.216	B;B;B;B;B	0.28385	0.001;0.003;0.001;0.001;0.089	T	0.07616	-1.0763	10	0.42905	T	0.14	.	9.9843	0.41832	0.0757:0.1387:0.7855:0.0	.	7;7;37;7;7	P48058;G3V164;Q59GL7;Q86XE8;E9PQN1	GRIA4_HUMAN;.;.;.;.	H	7	ENSP00000376833:Q7H;ENSP00000282499:Q7H;ENSP00000376835:Q7H;ENSP00000415551:Q7H;ENSP00000435775:Q7H;ENSP00000432180:Q7H	ENSP00000282499:Q7H	Q	+	3	2	GRIA4	104986955	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	1.434000	0.34958	1.426000	0.47256	0.558000	0.71614	CAG	GRIA4	-	NULL	ENSG00000152578		0.502	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	374	0.00	0	G			105481745	105481745	+1	no_errors	ENST00000282499	ensembl	human	known	69_37n	missense	444	10.66	53	SNP	1.000	C
GTF2H2B	653238	genome.wustl.edu	37	5	69718708	69718708	+	RNA	SNP	A	A	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr5:69718708A>G	ENST00000513202.1	+	0	371					NR_033417.1				general transcription factor IIH, polypeptide 2B (pseudogene)																		AGTTGTTGGAATACTTTGTAG	0.299																																						dbGAP											0													1.0	1.0	1.0					5																	69718708		105	305	410	-	-	-			0					5q13.2	2011-09-01	2011-09-01		ENSG00000226259	ENSG00000226259		"""General transcription factors"""	31393	pseudogene	pseudogene			"""general transcription factor IIH, polypeptide 2B"""				Standard	NR_033417		Approved	DKFZP686M0199	uc021yab.1		OTTHUMG00000162394		5.37:g.69718708A>G				RNA	SNP	-	NULL	ENST00000513202.1	37	NULL		5																																																																																			GTF2H2B	-	-	ENSG00000226259		0.299	GTF2H2B-003	KNOWN	basic	processed_transcript	GTF2H2B	HGNC	pseudogene	OTTHUMT00000396209.1	393	0.00	0	A	NM_001098729		69718708	69718708	+1	no_errors	ENST00000504712	ensembl	human	known	69_37n	rna	157	52.13	171	SNP	1.000	G
IGLC7	28834	genome.wustl.edu	37	22	23264914	23264914	+	RNA	SNP	G	G	T	rs559670217		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr22:23264914G>T	ENST00000390331.2	+	0	149				IGLJ7_ENST00000390330.2_RNA			A0M8Q6	LAC7_HUMAN	immunoglobulin lambda constant 7						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										GCCCCGTCAAGGTGGGAGTGG	0.582																																						dbGAP											0													81.0	85.0	84.0					22																	23264914		2203	4300	6503	-	-	-			0			X51755		22q11.2	2012-02-08			ENSG00000211685	ENSG00000211685		"""Immunoglobulins / IGL locus"""	5861	other	immunoglobulin gene							Standard	NG_000002		Approved			A0M8Q6	OTTHUMG00000151017		22.37:g.23264914G>T				Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	p.R50M	ENST00000390331.2	37	c.149		22																																																																																			IGLC7	-	pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like	ENSG00000211685		0.582	IGLC7-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	IGLC7	HGNC	IG_C_gene	OTTHUMT00000320966.4	226	0.00	0	G	NG_000002		23264914	23264914	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390331	ensembl	human	known	69_37n	missense	174	13.00	26	SNP	0.002	T
IRAK2	3656	genome.wustl.edu	37	3	10251290	10251290	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr3:10251290G>A	ENST00000256458.4	+	4	532	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	148					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCCAGCCAGAGCCCACCAGCC	0.577																																						dbGAP											0													136.0	147.0	144.0					3																	10251290		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.442G>A	3.37:g.10251290G>A	ENSP00000256458:p.Ala148Thr		B4DQZ6|Q08AG6|Q5K546	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A148T	ENST00000256458.4	37	c.442	CCDS33697.1	3	.	.	.	.	.	.	.	.	.	.	G	0.387	-0.925637	0.02377	.	.	ENSG00000134070	ENST00000256458	T	0.53857	0.6	4.44	0.247	0.15521	.	1.812950	0.03037	N	0.152893	T	0.28665	0.0710	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.14896	-1.0456	10	0.09590	T	0.72	-0.3717	4.6934	0.12791	0.232:0.0:0.6177:0.1503	.	148	O43187	IRAK2_HUMAN	T	148	ENSP00000256458:A148T	ENSP00000256458:A148T	A	+	1	0	IRAK2	10226290	0.001000	0.12720	0.000000	0.03702	0.006000	0.05464	0.270000	0.18607	0.101000	0.17610	0.563000	0.77884	GCC	IRAK2	-	NULL	ENSG00000134070		0.577	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	126	0.00	0	G			10251290	10251290	+1	no_errors	ENST00000256458	ensembl	human	known	69_37n	missense	109	14.62	19	SNP	0.000	A
KLHL41	10324	genome.wustl.edu	37	2	170366479	170366479	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr2:170366479C>G	ENST00000284669.1	+	1	268	c.191C>G	c.(190-192)tCt>tGt	p.S64C	BBS5_ENST00000554017.1_Intron|RP11-724O16.1_ENST00000513963.1_Intron	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											TACTTTTTATCTGAAATTGAT	0.383																																						dbGAP											0													141.0	141.0	141.0					2																	170366479		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.191C>G	2.37:g.170366479C>G	ENSP00000284669:p.Ser64Cys		Q53R42	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.S64C	ENST00000284669.1	37	c.191	CCDS2234.1	2	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691514	0.68271	.	.	ENSG00000239474	ENST00000284669	T	0.69926	-0.44	5.17	5.17	0.71159	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.050902	0.85682	D	0.000000	T	0.82148	0.4974	M	0.74389	2.26	0.58432	D	0.999999	D	0.76494	0.999	D	0.77004	0.989	D	0.84292	0.0500	10	0.72032	D	0.01	.	18.6673	0.91495	0.0:1.0:0.0:0.0	.	64	O60662	KBTBA_HUMAN	C	64	ENSP00000284669:S64C	ENSP00000284669:S64C	S	+	2	0	KBTBD10	170074725	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.453000	0.80700	2.411000	0.81874	0.585000	0.79938	TCT	KBTBD10	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	ENSG00000239474		0.383	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	442	0.00	0	C	NM_006063		170366479	170366479	+1	no_errors	ENST00000284669	ensembl	human	known	69_37n	missense	325	15.36	59	SNP	1.000	G
KCNAB2	8514	genome.wustl.edu	37	1	6157368	6157369	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:6157368_6157369insG	ENST00000164247.1	+	15	1529_1530	c.965_966insG	c.(964-969)ctggggfs	p.LG322fs	KCNAB2_ENST00000352527.1_Frame_Shift_Ins_p.LG308fs|KCNAB2_ENST00000378092.1_Frame_Shift_Ins_p.LG308fs|KCNAB2_ENST00000378097.1_Frame_Shift_Ins_p.LG322fs|KCNAB2_ENST00000458166.2_Frame_Shift_Ins_p.LG255fs|KCNAB2_ENST00000341524.1_Frame_Shift_Ins_p.LG322fs|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000378083.3_Frame_Shift_Ins_p.LG370fs|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000602612.1_Frame_Shift_Ins_p.LG322fs	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	322					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTGCTCCTGGGGGCCTCCA	0.649																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.970dupG	1.37:g.6157373_6157373dupG	ENSP00000164247:p.Leu322fs		A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Frame_Shift_Ins	INS	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.A372fs	ENST00000164247.1	37	c.1109_1110	CCDS55.1	1																																																																																			KCNAB2	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	ENSG00000069424		0.649	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	138	0.00	0	-	NM_172130		6157368	6157369	+1	no_errors	ENST00000378083	ensembl	human	known	69_37n	frame_shift_ins	59	15.71	11	INS	1.000:1.000	G
KCNH7	90134	genome.wustl.edu	37	2	163291915	163291915	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr2:163291915C>A	ENST00000332142.5	-	8	1846	c.1747G>T	c.(1747-1749)Gac>Tac	p.D583Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.D576Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	583					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCGATTTTGTCAGTCAGGTAA	0.438																																					GBM(196;1492 2208 17507 24132 45496)	dbGAP											0													174.0	156.0	162.0					2																	163291915		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1747G>T	2.37:g.163291915C>A	ENSP00000331727:p.Asp583Tyr		Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS	p.D583Y	ENST00000332142.5	37	c.1747	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	C	15.61	2.885079	0.51908	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.98550	-4.99;-4.99	5.9	5.9	0.94986	Ion transport (1);	0.042568	0.85682	D	0.000000	D	0.96978	0.9013	L	0.49571	1.57	0.45899	D	0.998748	B;B	0.28178	0.169;0.202	B;B	0.35073	0.062;0.195	D	0.95221	0.8334	10	0.52906	T	0.07	.	14.6463	0.68764	0.0:0.744:0.256:0.0	.	576;583	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	Y	583;576	ENSP00000331727:D583Y;ENSP00000333781:D576Y	ENSP00000333781:D576Y	D	-	1	0	KCNH7	163000161	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.446000	0.52928	2.788000	0.95919	0.650000	0.86243	GAC	KCNH7	-	pfam_Ion_trans_dom	ENSG00000184611		0.438	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	HGNC	protein_coding	OTTHUMT00000255093.1	434	0.00	0	C	NM_033272		163291915	163291915	-1	no_errors	ENST00000332142	ensembl	human	known	69_37n	missense	305	12.61	44	SNP	1.000	A
KIAA0391	9692	genome.wustl.edu	37	14	35742701	35742701	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr14:35742701G>A	ENST00000557565.1	+	8	2062	c.1681G>A	c.(1681-1683)Gat>Aat	p.D561N	KIAA0391_ENST00000603544.1_Missense_Mutation_p.D545N|KIAA0391_ENST00000605870.1_Missense_Mutation_p.D189N|KIAA0391_ENST00000534898.4_Missense_Mutation_p.D561N|KIAA0391_ENST00000321130.10_Missense_Mutation_p.D545N|KIAA0391_ENST00000604948.1_Missense_Mutation_p.D466N|KIAA0391_ENST00000250377.7_Missense_Mutation_p.D466N	NM_001282234.1	NP_001269163.1	O15091	MRRP3_HUMAN	KIAA0391	561					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)				central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;2.93e-05)|LUAD - Lung adenocarcinoma(48;3.86e-05)|Epithelial(34;0.0114)|all cancers(34;0.0277)	GBM - Glioblastoma multiforme(112;0.0593)		CATACCATATGATGAAGACTT	0.403																																						dbGAP											0													122.0	103.0	110.0					14																	35742701		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB002389	CCDS32063.1, CCDS58312.1, CCDS58313.1, CCDS58314.1	14q13.2	2013-06-18			ENSG00000100890	ENSG00000100890			19958	protein-coding gene	gene with protein product	"""mitochondrial RNase P subunit 3"", ""proteinaceous RNase P"""	609947				9205841, 18984158	Standard	NM_001256678		Approved	MRPP3, PRORP	uc001wsy.2	O15091		ENST00000557565.1:c.1681G>A	14.37:g.35742701G>A	ENSP00000454657:p.Asp561Asn		B4DXD9|B4E0S8|B4E211|C4AM93|D3DS99|D3DSA1|Q86SZ4|Q86YB5|Q8N5L5	Missense_Mutation	SNP	NULL	p.D561N	ENST00000557565.1	37	c.1681	CCDS32063.1	14	.	.	.	.	.	.	.	.	.	.	G	19.64	3.865675	0.71949	.	.	ENSG00000100890	ENST00000554896;ENST00000250377;ENST00000321130;ENST00000534898;ENST00000556121;ENST00000556912	T;T;T	0.48201	0.87;0.83;0.82	6.01	6.01	0.97437	.	0.121834	0.53938	D	0.000045	T	0.67363	0.2885	M	0.78916	2.43	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.989;0.992	T	0.61637	-0.7022	10	0.06757	T	0.87	-14.7778	19.2926	0.94108	0.0:0.0:1.0:0.0	.	545;561	O15091-2;O15091	.;MRRP3_HUMAN	N	466;466;545;561;545;189	ENSP00000250377:D466N;ENSP00000324697:D545N;ENSP00000440915:D561N	ENSP00000250377:D466N	D	+	1	0	KIAA0391	34812452	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.257000	0.78362	2.861000	0.98227	0.650000	0.86243	GAT	RP11-173D9.3	-	NULL	ENSG00000100890		0.403	KIAA0391-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	KIAA0391	Clone_based_vega_gene	protein_coding	OTTHUMT00000411280.1	246	0.00	0	G	NM_014672		35742701	35742701	+1	no_errors	ENST00000534898	ensembl	human	known	69_37n	missense	173	11.28	22	SNP	1.000	A
KIF20B	9585	genome.wustl.edu	37	10	91497970	91497970	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr10:91497970G>A	ENST00000371728.3	+	20	3437	c.3372G>A	c.(3370-3372)ctG>ctA	p.L1124L	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L1084L|KIF20B_ENST00000416354.1_Silent_p.L1154L|KIF20B_ENST00000394289.2_Silent_p.L1124L	NM_001284259.1	NP_001271188.1	Q96Q89	KI20B_HUMAN	kinesin family member 20B	1124					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|neural tube closure (GO:0001843)|regulation of establishment of cell polarity (GO:2000114)|regulation of establishment of protein localization (GO:0070201)|regulation of mitosis (GO:0007088)|regulation of neuron migration (GO:2001222)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|WW domain binding (GO:0050699)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TACAGCAGCTGAAAGAAGAAT	0.338																																						dbGAP											0													57.0	65.0	62.0					10																	91497970		2202	4294	6496	-	-	-	SO:0001819	synonymous_variant	0			L16782	CCDS7407.1, CCDS60590.1	10q23.31	2009-08-06	2008-07-31	2008-07-31	ENSG00000138182	ENSG00000138182			7212	protein-coding gene	gene with protein product	"""cancer/testis antigen 90"""	605498	"""M-phase phosphoprotein 1"""	MPHOSPH1		8885239, 8290587, 11470801	Standard	NM_016195		Approved	MPP1, KRMP1, CT90	uc001kgr.1	Q96Q89	OTTHUMG00000018725	ENST00000371728.3:c.3372G>A	10.37:g.91497970G>A			A8MXM7|O43277|Q09471|Q2KQ73|Q32NE1|Q561V3|Q58EX8|Q5T9M8|Q5T9M9|Q5T9N0|Q5T9N1|Q7KZ68|Q7Z5E0|Q7Z5E1|Q7Z6M9|Q86X82|Q9H3R8|Q9H6Q9|Q9H755|Q9NTC1|Q9UFR5	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1154	ENST00000371728.3	37	c.3462		10																																																																																			KIF20B	-	NULL	ENSG00000138182		0.338	KIF20B-003	KNOWN	basic	protein_coding	KIF20B	HGNC	protein_coding	OTTHUMT00000049330.1	71	0.00	0	G	NM_016195		91497970	91497970	+1	no_errors	ENST00000416354	ensembl	human	known	69_37n	silent	58	13.43	9	SNP	0.000	A
LCA5L	150082	genome.wustl.edu	37	21	40795105	40795105	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr21:40795105G>A	ENST00000358268.2	-	5	1162	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	LCA5L_ENST00000380671.2_Nonsense_Mutation_p.Q212*|LCA5L_ENST00000485895.2_Nonsense_Mutation_p.Q212*|LCA5L_ENST00000288350.3_Nonsense_Mutation_p.Q212*			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	212										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CTAAGTAGTTGCCTTAAATTT	0.343																																						dbGAP											0													105.0	103.0	104.0					21																	40795105		2203	4298	6501	-	-	-	SO:0001587	stop_gained	0			AF121781	CCDS13665.1	21q22.2	2007-12-18	2007-12-18	2007-12-18	ENSG00000157578	ENSG00000157578			1255	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 13"""	C21orf13			Standard	XM_005260926		Approved	MGC33295	uc002yxu.3	O95447	OTTHUMG00000066280	ENST00000358268.2:c.634C>T	21.37:g.40795105G>A	ENSP00000351008:p.Gln212*		D3DSI0|Q3ZCT0	Nonsense_Mutation	SNP	NULL	p.Q212*	ENST00000358268.2	37	c.634	CCDS13665.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.245392	0.97408	.	.	ENSG00000157578	ENST00000288350;ENST00000380671;ENST00000358268	.	.	.	5.06	4.16	0.48862	.	0.340983	0.27451	N	0.019314	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-17.1068	3.6216	0.08097	0.0887:0.1363:0.5596:0.2154	.	.	.	.	X	212	.	ENSP00000288350:Q212X	Q	-	1	0	LCA5L	39716975	0.901000	0.30685	1.000000	0.80357	0.989000	0.77384	1.254000	0.32897	2.516000	0.84829	0.655000	0.94253	CAA	LCA5L	-	NULL	ENSG00000157578		0.343	LCA5L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LCA5L	HGNC	protein_coding	OTTHUMT00000141807.2	694	0.00	0	G	NM_152505		40795105	40795105	-1	no_errors	ENST00000288350	ensembl	human	known	69_37n	nonsense	659	13.46	103	SNP	0.926	A
LGALS4	3960	genome.wustl.edu	37	19	39292707	39292707	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr19:39292707G>A	ENST00000307751.4	-	9	1227	c.750C>T	c.(748-750)agC>agT	p.S250S		NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	250	Galectin 2. {ECO:0000255|PROSITE- ProRule:PRU00639}.				cell adhesion (GO:0007155)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CATTCAGAAGGCTGTTCCGGA	0.547																																						dbGAP											0													78.0	70.0	73.0					19																	39292707		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12521.1	19q13.2	2014-03-19	2008-07-25		ENSG00000171747	ENSG00000171747		"""Lectins, galactoside-binding"""	6565	protein-coding gene	gene with protein product	"""galectin 4"""	602518				8063692	Standard	NM_006149		Approved	GAL4	uc002ojg.3	P56470	OTTHUMG00000182608	ENST00000307751.4:c.750C>T	19.37:g.39292707G>A				Silent	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	p.S250	ENST00000307751.4	37	c.750	CCDS12521.1	19																																																																																			LGALS4	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD	ENSG00000171747		0.547	LGALS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS4	HGNC	protein_coding	OTTHUMT00000462641.1	198	0.00	0	G	NM_006149		39292707	39292707	-1	no_errors	ENST00000307751	ensembl	human	known	69_37n	silent	93	40.76	64	SNP	0.919	A
LRTM1	57408	genome.wustl.edu	37	3	54959016	54959016	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr3:54959016G>A	ENST00000273286.5	-	2	396	c.234C>T	c.(232-234)acC>acT	p.T78T	CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron|LRTM1_ENST00000493075.1_Silent_p.T2T|CACNA2D3_ENST00000490478.1_Intron|CACNA2D3_ENST00000415676.2_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	78						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		ACAAGTTTAAGGTCATGAGCC	0.443																																						dbGAP											0													71.0	66.0	68.0					3																	54959016		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF225421	CCDS2876.1	3p14.3	2006-01-02			ENSG00000144771	ENSG00000144771			25023	protein-coding gene	gene with protein product						12477932	Standard	NM_020678		Approved	HT017	uc003dhl.3	Q9HBL6	OTTHUMG00000158578	ENST00000273286.5:c.234C>T	3.37:g.54959016G>A			Q8IUU2	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T78	ENST00000273286.5	37	c.234	CCDS2876.1	3																																																																																			LRTM1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	ENSG00000144771		0.443	LRTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRTM1	HGNC	protein_coding	OTTHUMT00000351399.1	222	0.00	0	G	NM_020678		54959016	54959016	-1	no_errors	ENST00000273286	ensembl	human	known	69_37n	silent	210	10.97	26	SNP	0.966	A
MCF2L	23263	genome.wustl.edu	37	13	113699676	113699676	+	Splice_Site	SNP	G	G	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr13:113699676G>T	ENST00000375608.3	+	5	517		c.e5+1		MCF2L_ENST00000375604.2_Splice_Site|MCF2L_ENST00000442652.2_Splice_Site|MCF2L_ENST00000535094.2_Splice_Site|MCF2L_ENST00000421756.1_Splice_Site|MCF2L_ENST00000423482.2_Splice_Site|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000397021.1_Splice_Site|MCF2L_ENST00000375601.3_Splice_Site|MCF2L_ENST00000397030.1_Splice_Site|MCF2L_ENST00000434480.2_Splice_Site|MCF2L_ENST00000375597.4_Splice_Site			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like						apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GCGCATCGCAGTAAGTGCCAC	0.652																																						dbGAP											0													51.0	46.0	48.0					13																	113699676		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.459+1G>T	13.37:g.113699676G>T			A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Splice_Site	SNP	-	e4+1	ENST00000375608.3	37	c.540+1		13	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355614	0.24598	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000430480;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000409954;ENST00000423482;ENST00000375597;ENST00000397021;ENST00000423251	.	.	.	4.29	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3996	0.55405	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MCF2L	112747677	1.000000	0.71417	0.994000	0.49952	0.094000	0.18550	6.145000	0.71769	2.373000	0.80994	0.561000	0.74099	.	MCF2L	-	-	ENSG00000126217		0.652	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	33	0.00	0	G		Intron	113699676	113699676	+1	no_errors	ENST00000375604	ensembl	human	known	69_37n	splice_site	3	83.33	15	SNP	0.998	T
MED13	9969	genome.wustl.edu	37	17	60040309	60040309	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr17:60040309C>G	ENST00000397786.2	-	21	4944	c.4868G>C	c.(4867-4869)gGa>gCa	p.G1623A		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1623					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGGGGATTCCCACTTTATC	0.383																																						dbGAP											0													105.0	102.0	103.0					17																	60040309		1857	4102	5959	-	-	-	SO:0001583	missense	0			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.4868G>C	17.37:g.60040309C>G	ENSP00000380888:p.Gly1623Ala		B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.G1623A	ENST00000397786.2	37	c.4868	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	27.4	4.831933	0.91036	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.79141	-1.24	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.87736	0.6252	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.86630	0.1885	10	0.41790	T	0.15	-3.2947	19.2747	0.94027	0.0:1.0:0.0:0.0	.	1623	Q9UHV7	MED13_HUMAN	A	1623;1622	ENSP00000380888:G1623A	ENSP00000262436:G1622A	G	-	2	0	MED13	57395091	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	2.558000	0.86282	0.655000	0.94253	GGA	MED13	-	NULL	ENSG00000108510		0.383	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	225	0.44	1	C	NM_005121		60040309	60040309	-1	no_errors	ENST00000397786	ensembl	human	known	69_37n	missense	164	14.14	27	SNP	1.000	G
MKI67	4288	genome.wustl.edu	37	10	129913245	129913245	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr10:129913245G>C	ENST00000368654.3	-	7	1802	c.1427C>G	c.(1426-1428)tCt>tGt	p.S476C	MKI67_ENST00000368653.3_Intron|MKI67_ENST00000484853.1_5'Flank	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	476					cell proliferation (GO:0008283)|cellular response to heat (GO:0034605)|DNA metabolic process (GO:0006259)|hyaluronan metabolic process (GO:0030212)|meiotic nuclear division (GO:0007126)|organ regeneration (GO:0031100)|response to organic cyclic compound (GO:0014070)	chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTAACCCAGAGCACATCTG	0.383																																						dbGAP											0													137.0	136.0	136.0					10																	129913245		2203	4300	6503	-	-	-	SO:0001583	missense	0			X65550	CCDS7659.1, CCDS53588.1	10q26.2	2014-06-12	2013-10-10		ENSG00000148773	ENSG00000148773			7107	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 105"""	176741	"""antigen identified by monoclonal antibody Ki-67"""			2571566, 16206250	Standard	NM_002417		Approved	MIB-, PPP1R105	uc001lke.3	P46013	OTTHUMG00000019255	ENST00000368654.3:c.1427C>G	10.37:g.129913245G>C	ENSP00000357643:p.Ser476Cys		Q5VWH2	Missense_Mutation	SNP	pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.S476C	ENST00000368654.3	37	c.1427	CCDS7659.1	10	.	.	.	.	.	.	.	.	.	.	G	12.01	1.808566	0.31961	.	.	ENSG00000148773	ENST00000368654;ENST00000537609	T	0.01871	4.59	4.02	4.02	0.46733	.	0.556823	0.16494	N	0.211944	T	0.05135	0.0137	L	0.27053	0.805	0.43152	D	0.994926	D	0.69078	0.997	P	0.60236	0.871	T	0.50988	-0.8762	10	0.87932	D	0	.	11.8464	0.52387	0.0:0.0:1.0:0.0	.	476	P46013	KI67_HUMAN	C	476	ENSP00000357643:S476C	ENSP00000357643:S476C	S	-	2	0	MKI67	129803235	0.105000	0.21958	0.016000	0.15963	0.126000	0.20510	1.250000	0.32850	2.220000	0.72140	0.655000	0.94253	TCT	MKI67	-	NULL	ENSG00000148773		0.383	MKI67-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MKI67	HGNC	protein_coding	OTTHUMT00000050999.1	190	0.00	0	G	NM_002417		129913245	129913245	-1	no_errors	ENST00000368654	ensembl	human	known	69_37n	missense	140	16.67	28	SNP	0.039	C
KMT2A	4297	genome.wustl.edu	37	11	118375784	118375784	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr11:118375784G>A	ENST00000389506.5	+	27	9168	c.9168G>A	c.(9166-9168)ccG>ccA	p.P3056P	KMT2A_ENST00000534358.1_Silent_p.P3059P|KMT2A_ENST00000354520.4_Silent_p.P3018P			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3056					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										GTCCTGGCCCGTCTCAGATTT	0.512																																						dbGAP											0													109.0	102.0	105.0					11																	118375784		2200	4295	6495	-	-	-	SO:0001819	synonymous_variant	0			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9168G>A	11.37:g.118375784G>A			E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.P3056	ENST00000389506.5	37	c.9168	CCDS31686.1	11																																																																																			MLL	-	pirsf_MeTrfase_trithorax	ENSG00000118058		0.512	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	156	0.64	1	G	NM_005933		118375784	118375784	+1	no_errors	ENST00000389506	ensembl	human	known	69_37n	silent	104	49.51	102	SNP	0.291	A
MON1A	84315	genome.wustl.edu	37	3	49947969	49947969	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr3:49947969G>A	ENST00000417270.1	-	5	1679	c.986C>T	c.(985-987)tCc>tTc	p.S329F	CTD-2330K9.3_ENST00000419183.1_Intron|MON1A_ENST00000296473.3_Missense_Mutation_p.S418F|MON1A_ENST00000455683.2_Missense_Mutation_p.S256F|MON1A_ENST00000483022.1_5'Flank			Q86VX9	MON1A_HUMAN	MON1 secretory trafficking family member A	321										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CAGCAGGATGGAGAAGACCAG	0.667																																						dbGAP											0													26.0	29.0	28.0					3																	49947969		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK074404	CCDS2808.2, CCDS46830.1	3p21.31	2013-08-21	2013-08-21		ENSG00000164077	ENSG00000164077			28207	protein-coding gene	gene with protein product		611464	"""MON1 homolog A (yeast)"""			12477932	Standard	NM_032355		Approved	MGC13272, SAND1	uc003cxz.3	Q86VX9	OTTHUMG00000156737	ENST00000417270.1:c.986C>T	3.37:g.49947969G>A	ENSP00000399613:p.Ser329Phe		B2RDQ1|G5E9N1|Q8NAV7|Q9BRF3	Missense_Mutation	SNP	pfam_Vacuolar_fusion_protein_MON1,superfamily_Longin-like_dom,prints_Vacuolar_fusion_protein_MON1	p.S418F	ENST00000417270.1	37	c.1253		3	.	.	.	.	.	.	.	.	.	.	G	25.2	4.617526	0.87359	.	.	ENSG00000164077	ENST00000296473;ENST00000417270;ENST00000455683	.	.	.	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.82889	0.5135	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.76575	0.982;0.977;0.988	T	0.82378	-0.0487	8	.	.	.	-30.4742	19.8862	0.96913	0.0:0.0:1.0:0.0	.	159;256;321	Q86VX9-3;G5E9N1;Q86VX9	.;.;MON1A_HUMAN	F	418;329;256	.	.	S	-	2	0	MON1A	49922973	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	9.855000	0.99526	2.712000	0.92718	0.555000	0.69702	TCC	MON1A	-	pfam_Vacuolar_fusion_protein_MON1,prints_Vacuolar_fusion_protein_MON1	ENSG00000164077		0.667	MON1A-005	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	MON1A	HGNC	protein_coding	OTTHUMT00000345538.2	37	0.00	0	G	NM_032355		49947969	49947969	-1	no_errors	ENST00000296473	ensembl	human	known	69_37n	missense	31	17.95	7	SNP	1.000	A
MRE11A	4361	genome.wustl.edu	37	11	94192723	94192723	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr11:94192723C>G	ENST00000323929.3	-	13	1573	c.1351G>C	c.(1351-1353)Gaa>Caa	p.E451Q	MRE11A_ENST00000407439.3_Missense_Mutation_p.E454Q|MRE11A_ENST00000323977.3_Missense_Mutation_p.E451Q|MRE11A_ENST00000393241.4_Missense_Mutation_p.E451Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	451					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				ATCCCTCTTTCTGTTAGCAGT	0.368								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																													dbGAP											0													147.0	136.0	140.0					11																	94192723		2201	4298	6499	-	-	-	SO:0001583	missense	0	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1351G>C	11.37:g.94192723C>G	ENSP00000325863:p.Glu451Gln		O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.E451Q	ENST00000323929.3	37	c.1351	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	C	19.69	3.875461	0.72180	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.79	5.79	0.91817	Mre11, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87513	0.6196	M	0.65498	2.005	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.995	D	0.85210	0.1020	10	0.37606	T	0.19	-32.928	20.0297	0.97533	0.0:1.0:0.0:0.0	.	454;451;451	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	Q	451;454;451;451	ENSP00000325863:E451Q;ENSP00000385614:E454Q;ENSP00000326094:E451Q;ENSP00000376933:E451Q	ENSP00000325863:E451Q	E	-	1	0	MRE11A	93832371	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	7.755000	0.85180	2.741000	0.93983	0.484000	0.47621	GAA	MRE11A	-	pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11	ENSG00000020922		0.368	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	740	0.27	2	C	NM_005591		94192723	94192723	-1	no_errors	ENST00000323929	ensembl	human	known	69_37n	missense	459	46.82	405	SNP	1.000	G
MYO10	4651	genome.wustl.edu	37	5	16711286	16711286	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr5:16711286C>T	ENST00000513610.1	-	20	2452	c.1998G>A	c.(1996-1998)gtG>gtA	p.V666V	MYO10_ENST00000427430.2_Silent_p.V23V|MYO10_ENST00000512061.1_5'UTR|MYO10_ENST00000274203.9_Silent_p.V23V|MYO10_ENST00000505695.1_Silent_p.V5V|MYO10_ENST00000515803.1_Silent_p.V5V	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	666	Myosin motor.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGCGGATTCTCACAGTCTCCA	0.483																																						dbGAP											0													43.0	44.0	43.0					5																	16711286		1883	4125	6008	-	-	-	SO:0001819	synonymous_variant	0			AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.1998G>A	5.37:g.16711286C>T			A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom	p.V666	ENST00000513610.1	37	c.1998	CCDS54834.1	5																																																																																			MYO10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000145555		0.483	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO10	HGNC	protein_coding	OTTHUMT00000366167.1	139	0.00	0	C	NM_012334		16711286	16711286	-1	no_errors	ENST00000513610	ensembl	human	known	69_37n	silent	101	11.30	13	SNP	0.999	T
NR3C2	4306	genome.wustl.edu	37	4	149075853	149075853	+	Silent	SNP	G	G	A	rs573824184		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr4:149075853G>A	ENST00000358102.3	-	5	2576	c.2214C>T	c.(2212-2214)ccC>ccT	p.P738P	RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P738P|NR3C2_ENST00000355292.3_Silent_p.P742P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P742P|NR3C2_ENST00000503313.1_5'UTR	NM_000901.4|NM_001166104.1	NP_000892.2|NP_001159576.1	P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	738	Steroid-binding.				gene expression (GO:0010467)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|receptor complex (GO:0043235)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Drospirenone(DB01395)|Eplerenone(DB00700)|Felodipine(DB01023)|Fludrocortisone(DB00687)|Fluticasone Propionate(DB00588)|Nimodipine(DB00393)|Progesterone(DB00396)|Spironolactone(DB00421)	GGACCATAACGGGGGAAGGTG	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		13555	0.0		0.0	False		,,,				2504	0.001				Melanoma(27;428 957 40335 51025 51111)	dbGAP											0													215.0	199.0	205.0					4																	149075853		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M16801	CCDS3772.1, CCDS54811.1	4q31	2013-01-16			ENSG00000151623	ENSG00000151623		"""Nuclear hormone receptors"""	7979	protein-coding gene	gene with protein product		600983		MLR		2558856	Standard	NM_000901		Approved	MR	uc003ilj.4	P08235	OTTHUMG00000161455	ENST00000358102.3:c.2214C>T	4.37:g.149075853G>A			B0ZBF5|B0ZBF7|Q2NKL1|Q96KQ8|Q96KQ9	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.P742	ENST00000358102.3	37	c.2226	CCDS3772.1	4																																																																																			NR3C2	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000151623		0.502	NR3C2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NR3C2	HGNC	protein_coding	OTTHUMT00000364986.1	425	0.00	0	G			149075853	149075853	-1	no_errors	ENST00000355292	ensembl	human	known	69_37n	silent	138	26.06	49	SNP	0.000	A
NR4A1	3164	genome.wustl.edu	37	12	52448796	52448796	+	Silent	SNP	G	G	A	rs570850379		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:52448796G>A	ENST00000243050.1	+	3	998	c.684G>A	c.(682-684)acG>acA	p.T228T	NR4A1_ENST00000550082.1_Silent_p.T241T|NR4A1_ENST00000394825.1_Silent_p.T228T|NR4A1_ENST00000545748.1_Silent_p.T282T|NR4A1_ENST00000394824.2_Silent_p.T228T|NR4A1_ENST00000548232.1_Silent_p.T228T|NR4A1_ENST00000360284.3_Silent_p.T241T	NM_002135.4	NP_002126.2	P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	228					cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell chemotaxis (GO:0035767)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCATGCCTACGGCCTTCCCAG	0.667													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15507	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													84.0	95.0	92.0					12																	52448796		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L13740	CCDS8818.1, CCDS55828.1, CCDS73471.1	12q13	2013-01-16			ENSG00000123358	ENSG00000123358		"""Nuclear hormone receptors"""	7980	protein-coding gene	gene with protein product		139139		HMR, GFRP1		2626032	Standard	NM_002135		Approved	TR3, N10, NAK-1, NGFIB, NUR77	uc001rzt.3	P22736	OTTHUMG00000150393	ENST00000243050.1:c.684G>A	12.37:g.52448796G>A			B4DML7|Q15627|Q53Y00|Q6IBU8	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt,prints_Nuc_orp_HMR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt	p.T282	ENST00000243050.1	37	c.846	CCDS8818.1	12																																																																																			NR4A1	-	prints_Nuc_orp_HMR_rcpt	ENSG00000123358		0.667	NR4A1-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NR4A1	HGNC	protein_coding	OTTHUMT00000317922.2	85	0.00	0	G			52448796	52448796	+1	no_errors	ENST00000545748	ensembl	human	known	69_37n	silent	57	19.72	14	SNP	0.000	A
NRBP1	29959	genome.wustl.edu	37	2	27663559	27663559	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr2:27663559G>C	ENST00000233557.3	+	14	2015	c.1183G>C	c.(1183-1185)Gaa>Caa	p.E395Q	NRBP1_ENST00000379863.3_Missense_Mutation_p.E403Q|KRTCAP3_ENST00000407293.1_5'Flank|NRBP1_ENST00000379852.3_Missense_Mutation_p.E395Q|KRTCAP3_ENST00000543753.1_5'Flank|KRTCAP3_ENST00000288873.3_5'Flank			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	395					ER to Golgi vesicle-mediated transport (GO:0006888)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell projection (GO:0042995)|endomembrane system (GO:0012505)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					TAAATTCCTTGAAGATGTCAG	0.468																																						dbGAP											0													89.0	87.0	88.0					2																	27663559		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF113249	CCDS1753.1	2p23	2008-02-05	2005-12-22	2005-12-22	ENSG00000115216	ENSG00000115216			7993	protein-coding gene	gene with protein product		606010	"""nuclear receptor binding protein"""	NRBP		10843813, 11956649	Standard	NM_013392		Approved	BCON3, MUDPNP, MADM	uc002rkp.3	Q9UHY1	OTTHUMG00000097789	ENST00000233557.3:c.1183G>C	2.37:g.27663559G>C	ENSP00000233557:p.Glu395Gln		B3KV40|D6W558|Q53FZ5|Q96SU3	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E395Q	ENST00000233557.3	37	c.1183	CCDS1753.1	2	.	.	.	.	.	.	.	.	.	.	G	15.47	2.843844	0.51164	.	.	ENSG00000115216	ENST00000233557;ENST00000421823;ENST00000379852;ENST00000379863	T;T;T	0.38077	1.16;1.16;1.16	6.08	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.60843	0.2300	M	0.76170	2.325	0.80722	D	1	P;D;D	0.89917	0.853;1.0;1.0	B;D;D	0.80764	0.376;0.994;0.987	T	0.65886	-0.6059	10	0.72032	D	0.01	-10.1934	15.4861	0.75569	0.0:0.0:0.8602:0.1398	.	375;403;395	B4DW31;F8W6G1;Q9UHY1	.;.;NRBP_HUMAN	Q	395;375;395;403	ENSP00000233557:E395Q;ENSP00000369181:E395Q;ENSP00000369192:E403Q	ENSP00000233557:E395Q	E	+	1	0	NRBP1	27517063	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	8.864000	0.92294	1.562000	0.49601	-0.181000	0.13052	GAA	NRBP1	-	NULL	ENSG00000115216		0.468	NRBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NRBP1	HGNC	protein_coding	OTTHUMT00000215033.1	458	0.00	0	G	NM_013392		27663559	27663559	+1	no_errors	ENST00000233557	ensembl	human	known	69_37n	missense	324	17.77	70	SNP	1.000	C
NRP2	8828	genome.wustl.edu	37	2	206608200	206608200	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr2:206608200G>A	ENST00000357785.5	+	9	1596	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	NRP2_ENST00000357118.4_Missense_Mutation_p.R522H|NRP2_ENST00000412873.2_Missense_Mutation_p.R522H|NRP2_ENST00000540178.1_Missense_Mutation_p.R522H|NRP2_ENST00000355117.4_Missense_Mutation_p.R522H|NRP2_ENST00000417189.1_Missense_Mutation_p.R522H|NRP2_ENST00000360409.3_Missense_Mutation_p.R522H|NRP2_ENST00000540841.1_Missense_Mutation_p.R522H|NRP2_ENST00000272849.3_Missense_Mutation_p.R522H			Q99435	NELL2_HUMAN	neuropilin 2	0	EGF-like 3; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						GCATTTGTGCGCAAGTTCAAA	0.547																																						dbGAP											0													82.0	87.0	86.0					2																	206608200		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016098	CCDS2364.1, CCDS2365.1, CCDS46496.1, CCDS46497.1, CCDS46498.1, CCDS46499.1	2q33.3	2008-05-23			ENSG00000118257	ENSG00000118257			8005	protein-coding gene	gene with protein product		602070				9529250, 9331348	Standard	NM_003872		Approved	VEGF165R2	uc002vaw.3	O60462	OTTHUMG00000132893	ENST00000357785.5:c.1565G>A	2.37:g.206608200G>A	ENSP00000350432:p.Arg522His		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	pirsf_Neuropilin,pfam_CUB,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_ConA-like_lec_gl,smart_CUB,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom	p.R522H	ENST00000357785.5	37	c.1565	CCDS46496.1	2	.	.	.	.	.	.	.	.	.	.	G	17.63	3.437913	0.62955	.	.	ENSG00000118257	ENST00000360409;ENST00000540178;ENST00000540841;ENST00000355117;ENST00000417189;ENST00000357118;ENST00000357785;ENST00000412873;ENST00000272849	D;D;D;D;D;D;D;D;D	0.98345	-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88;-4.88	5.96	5.08	0.68730	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.043274	0.85682	D	0.000000	D	0.98554	0.9517	M	0.83483	2.645	0.47994	D	0.99956	D;D;D;D;D;D	0.76494	0.999;0.999;0.995;0.999;0.999;0.995	P;P;P;P;P;P	0.62560	0.859;0.889;0.478;0.869;0.869;0.904	D	0.99097	1.0842	10	0.87932	D	0	-25.3417	9.7197	0.40295	0.1953:0.0:0.8047:0.0	.	522;522;522;522;522;522	O60462-2;O60462-3;O60462;O60462-4;O60462-5;E9PF66	.;.;NRP2_HUMAN;.;.;.	H	522	ENSP00000353582:R522H;ENSP00000439658:R522H;ENSP00000439261:R522H;ENSP00000347238:R522H;ENSP00000387519:R522H;ENSP00000349632:R522H;ENSP00000350432:R522H;ENSP00000407626:R522H;ENSP00000272849:R522H	ENSP00000272849:R522H	R	+	2	0	NRP2	206316445	1.000000	0.71417	1.000000	0.80357	0.270000	0.26580	7.659000	0.83766	1.525000	0.49052	-0.136000	0.14681	CGC	NRP2	-	pirsf_Neuropilin,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	ENSG00000118257		0.547	NRP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRP2	HGNC	protein_coding	OTTHUMT00000336467.1	135	0.00	0	G			206608200	206608200	+1	no_errors	ENST00000360409	ensembl	human	known	69_37n	missense	113	15.67	21	SNP	1.000	A
OR4F17	81099	genome.wustl.edu	37	19	110858	110858	+	Silent	SNP	A	A	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr19:110858A>G	ENST00000585993.1	+	2	319	c.180A>G	c.(178-180)tcA>tcG	p.S60S	OR4F17_ENST00000318050.3_Silent_p.S60S			Q8NGA8	O4F17_HUMAN	olfactory receptor, family 4, subfamily F, member 17	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			lung(2)	2		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAACCTCTCACTCATTGATC	0.463																																						dbGAP											0													1.0	1.0	1.0					19																	110858		506	964	1470	-	-	-	SO:0001819	synonymous_variant	0			AC005605	CCDS32854.1	19p13.3	2012-08-09						"""GPCR / Class A : Olfactory receptors"""	15381	protein-coding gene	gene with protein product				OR4F19, OR4F11P, OR4F18			Standard	NM_001005240		Approved		uc002loc.1	Q8NGA8		ENST00000585993.1:c.180A>G	19.37:g.110858A>G			B2RNE8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.S60	ENST00000585993.1	37	c.180	CCDS32854.1	19																																																																																			OR4F17	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000176695		0.463	OR4F17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4F17	HGNC	protein_coding	OTTHUMT00000451410.1	88	0.00	0	A			110858	110858	+1	no_errors	ENST00000318050	ensembl	human	known	69_37n	silent	12	20.00	3	SNP	0.074	G
PAPSS1	9061	genome.wustl.edu	37	4	108578129	108578129	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr4:108578129C>T	ENST00000265174.4	-	7	1090	c.818G>A	c.(817-819)gGt>gAt	p.G273D	PAPSS1_ENST00000511304.1_5'UTR	NM_005443.4	NP_005434.4	O43252	PAPS1_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 1	273					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			NS(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|ovary(1)	16		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.49e-05)		GGTTGCCCAACCTTCTGCCAA	0.388																																						dbGAP											0													116.0	111.0	113.0					4																	108578129		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y10387	CCDS3676.1	4q24	2012-07-13			ENSG00000138801	ENSG00000138801	2.7.7.4, 2.7.1.25		8603	protein-coding gene	gene with protein product		603262				9576487, 9771708	Standard	NM_005443		Approved	ATPSK1, PAPSS	uc003hyk.3	O43252	OTTHUMG00000131210	ENST00000265174.4:c.818G>A	4.37:g.108578129C>T	ENSP00000265174:p.Gly273Asp		O43841|O75332|Q96FB1|Q96TF4|Q9P1P9|Q9UE98	Missense_Mutation	SNP	pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase	p.G273D	ENST00000265174.4	37	c.818	CCDS3676.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.210836	0.95069	.	.	ENSG00000138801	ENST00000265174	T	0.79141	-1.24	6.16	6.16	0.99307	Sulphate adenylyltransferase (1);PUA-like domain (1);	0.000000	0.85682	D	0.000000	D	0.92463	0.7607	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93392	0.6752	10	0.87932	D	0	-20.1705	20.8598	0.99761	0.0:1.0:0.0:0.0	.	273	O43252	PAPS1_HUMAN	D	273	ENSP00000265174:G273D	ENSP00000265174:G273D	G	-	2	0	PAPSS1	108797578	1.000000	0.71417	0.980000	0.43619	0.926000	0.56050	7.294000	0.78760	2.937000	0.99478	0.650000	0.86243	GGT	PAPSS1	-	superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase	ENSG00000138801		0.388	PAPSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPSS1	HGNC	protein_coding	OTTHUMT00000253946.2	391	0.00	0	C			108578129	108578129	-1	no_errors	ENST00000265174	ensembl	human	known	69_37n	missense	179	17.05	37	SNP	1.000	T
PCDH11X	27328	genome.wustl.edu	37	X	91134233	91134233	+	Silent	SNP	G	G	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:91134233G>T	ENST00000373094.1	+	2	3839	c.2994G>T	c.(2992-2994)gtG>gtT	p.V998V	PCDH11X_ENST00000395337.2_Silent_p.V998V|PCDH11X_ENST00000504220.2_Silent_p.V998V|PCDH11X_ENST00000406881.1_Silent_p.V998V|PCDH11X_ENST00000361655.2_Silent_p.V998V|PCDH11X_ENST00000373097.1_Silent_p.V998V|PCDH11X_ENST00000361724.1_Silent_p.V998V|PCDH11X_ENST00000298274.8_Silent_p.V998V|PCDH11X_ENST00000373088.1_Silent_p.V998V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	998					homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GCTATCCAGTGACGACCTTCG	0.438																																					NSCLC(38;925 1092 2571 38200 45895)	dbGAP											0													211.0	165.0	181.0					X																	91134233		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.2994G>T	X.37:g.91134233G>T			A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Silent	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V998	ENST00000373094.1	37	c.2994	CCDS14461.1	X																																																																																			PCDH11X	-	NULL	ENSG00000102290		0.438	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH11X	HGNC	protein_coding	OTTHUMT00000057436.1	438	0.00	0	G	NM_032969		91134233	91134233	+1	no_errors	ENST00000373094	ensembl	human	known	69_37n	silent	343	26.39	123	SNP	1.000	T
PCDHB1	29930	genome.wustl.edu	37	5	140433272	140433272	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr5:140433272C>T	ENST00000306549.3	+	1	2294	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN	protocadherin beta 1	739					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTAACAACCTGGTACAAG	0.373																																						dbGAP											0													109.0	107.0	108.0					5																	140433272		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152488	CCDS4243.1	5q31	2010-01-26			ENSG00000171815	ENSG00000171815		"""Cadherins / Protocadherins : Clustered"""	8680	other	protocadherin		606327				10380929	Standard	NM_013340		Approved	PCDH-BETA1	uc003lik.1	Q9Y5F3	OTTHUMG00000129627	ENST00000306549.3:c.2217C>T	5.37:g.140433272C>T			Q2M257	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.N739	ENST00000306549.3	37	c.2217	CCDS4243.1	5																																																																																			PCDHB1	-	NULL	ENSG00000171815		0.373	PCDHB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB1	HGNC	protein_coding	OTTHUMT00000251822.2	371	0.00	0	C	NM_013340		140433272	140433272	+1	no_errors	ENST00000306549	ensembl	human	known	69_37n	silent	197	35.08	107	SNP	0.126	T
PCDHB6	56130	genome.wustl.edu	37	5	140530673	140530673	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr5:140530673G>A	ENST00000231136.1	+	1	835	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A143T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	279	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTATCTTACGCCCTGTTTCA	0.468																																						dbGAP											0													82.0	85.0	84.0					5																	140530673		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.835G>A	5.37:g.140530673G>A	ENSP00000231136:p.Ala279Thr		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A279T	ENST00000231136.1	37	c.835	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	G	9.066	0.995805	0.19043	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.01767	4.65;4.65	4.85	0.708	0.18144	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.00784	0.0026	N	0.04355	-0.22	0.09310	N	1	B	0.31519	0.327	B	0.28139	0.086	T	0.45963	-0.9225	9	0.10902	T	0.67	.	3.3651	0.07201	0.242:0.0:0.2668:0.4912	.	279	Q9Y5E3	PCDB6_HUMAN	T	143;279;64	ENSP00000438466:A143T;ENSP00000231136:A279T	ENSP00000231136:A279T	A	+	1	0	PCDHB6	140510857	0.000000	0.05858	0.010000	0.14722	0.769000	0.43574	-1.125000	0.03257	0.537000	0.28751	0.561000	0.74099	GCC	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000113211		0.468	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	165	0.00	0	G	NM_018939		140530673	140530673	+1	no_errors	ENST00000231136	ensembl	human	known	69_37n	missense	153	14.92	27	SNP	0.001	A
PI4KA	5297	genome.wustl.edu	37	22	21096566	21096566	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr22:21096566G>A	ENST00000572273.1	-	32	3747	c.3517C>T	c.(3517-3519)Ctg>Ttg	p.L1173L	PI4KA_ENST00000255882.6_Silent_p.L1231L			P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1173					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi-associated vesicle membrane (GO:0030660)|membrane (GO:0016020)|plasma membrane (GO:0005886)	1-phosphatidylinositol 4-kinase activity (GO:0004430)|ATP binding (GO:0005524)			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CAGCAGGCCAGGGCCGTCTCC	0.597											OREG0026324	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									GBM(136;1332 1831 3115 23601 50806)	dbGAP											0													104.0	110.0	108.0					22																	21096566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			L36151	CCDS33603.1, CCDS33603.2	22q11.21	2011-05-25	2007-08-14	2007-08-02	ENSG00000241973	ENSG00000241973			8983	protein-coding gene	gene with protein product		600286		PIK4CA		7961848, 8662589	Standard	NM_002650		Approved	PI4K-ALPHA, pi4K230	uc002zsz.5	P42356	OTTHUMG00000167440	ENST00000572273.1:c.3517C>T	22.37:g.21096566G>A		745	Q7Z625|Q9UPG2	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.L1231	ENST00000572273.1	37	c.3691		22																																																																																			PI4KA	-	NULL	ENSG00000241973		0.597	PI4KA-202	KNOWN	basic|appris_principal	protein_coding	PI4KA	HGNC	protein_coding		120	0.00	0	G	NM_058004		21096566	21096566	-1	no_errors	ENST00000255882	ensembl	human	known	69_37n	silent	94	16.67	19	SNP	1.000	A
PLCG1	5335	genome.wustl.edu	37	20	39793935	39793935	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr20:39793935G>T	ENST00000373271.1	+	14	1842	c.1437G>T	c.(1435-1437)atG>atT	p.M479I	PLCG1_ENST00000244007.3_Missense_Mutation_p.M479I|PLCG1_ENST00000373272.2_Missense_Mutation_p.M479I	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	479					activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTACATCCATGATGTACTCTG	0.577																																						dbGAP											0													98.0	91.0	93.0					20																	39793935		2203	4300	6503	-	-	-	SO:0001583	missense	0			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1437G>T	20.37:g.39793935G>T	ENSP00000362368:p.Met479Ile		B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.M479I	ENST00000373271.1	37	c.1437	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	10.20	1.284368	0.23392	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.51325	0.71;0.71;0.71	5.66	2.44	0.29823	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);	0.472384	0.24336	N	0.039406	T	0.21103	0.0508	N	0.02539	-0.55	0.19575	N	0.999961	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.18178	-1.0345	10	0.36615	T	0.2	.	10.1688	0.42897	0.0:0.3004:0.4627:0.2369	.	479;479;479	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	I	479	ENSP00000244007:M479I;ENSP00000362368:M479I;ENSP00000362369:M479I	ENSP00000244007:M479I	M	+	3	0	PLCG1	39227349	0.989000	0.36119	0.984000	0.44739	0.873000	0.50193	0.142000	0.16096	0.725000	0.32318	-0.165000	0.13383	ATG	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,pirsf_PLC-gamma	ENSG00000124181		0.577	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	148	0.00	0	G	NM_182811		39793935	39793935	+1	no_errors	ENST00000244007	ensembl	human	known	69_37n	missense	129	15.69	24	SNP	0.774	T
POLE	5426	genome.wustl.edu	37	12	133220066	133220066	+	Silent	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:133220066G>C	ENST00000320574.5	-	34	4414	c.4371C>G	c.(4369-4371)ggC>ggG	p.G1457G	POLE_ENST00000535270.1_Silent_p.G1430G|POLE_ENST00000434528.3_5'Flank	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1457					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	CTGCTTCCCAGCCTGAAAGGT	0.582								DNA polymerases (catalytic subunits)																														dbGAP											0													158.0	149.0	152.0					12																	133220066		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4371C>G	12.37:g.133220066G>C			Q13533|Q86VH9	Silent	SNP	pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B	p.G1468	ENST00000320574.5	37	c.4404	CCDS9278.1	12																																																																																			POLE	-	NULL	ENSG00000177084		0.582	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLE	HGNC	protein_coding	OTTHUMT00000397689.2	109	0.00	0	G	NM_006231		133220066	133220066	-1	no_errors	ENST00000455752	ensembl	human	known	69_37n	silent	68	13.92	11	SNP	1.000	C
POTEE	445582	genome.wustl.edu	37	2	132022031	132022031	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr2:132022031C>T	ENST00000356920.5	+	15	3097	c.3003C>T	c.(3001-3003)ggC>ggT	p.G1001G	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	1001	Actin-like.				retina homeostasis (GO:0001895)|substantia nigra development (GO:0021762)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)											TGCTGTCTGGCGGCACCACCA	0.537																																						dbGAP											0													1.0	1.0	1.0					2																	132022031		335	417	752	-	-	-	SO:0001819	synonymous_variant	0			AY462868	CCDS46414.1	2q21.1	2014-04-10	2008-11-26	2008-11-26	ENSG00000188219	ENSG00000188219		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33895	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 2"""	608914	"""ANKRD26-like family C, member 1A"""	A26C1A			Standard	NM_001083538		Approved	POTE2, POTE-2, A26C1, POTE2gamma, CT104.2	uc002tsn.2	Q6S8J3	OTTHUMG00000186974	ENST00000356920.5:c.3003C>T	2.37:g.132022031C>T			Q6S8J4|Q6S8J5|Q6S8J8	Silent	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.G1001	ENST00000356920.5	37	c.3003	CCDS46414.1	2																																																																																			AC131180.1	-	pfam_Actin-like,smart_Actin-like	ENSG00000188219		0.537	POTEE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEE	Clone_based_ensembl_gene	protein_coding		11	0.00	0	C	NM_001083538		132022031	132022031	+1	no_errors	ENST00000356920	ensembl	human	known	69_37n	silent	4	66.67	8	SNP	1.000	T
RAB3C	115827	genome.wustl.edu	37	5	58021869	58021869	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr5:58021869C>A	ENST00000282878.4	+	3	462	c.293C>A	c.(292-294)gCc>gAc	p.A98D	RAB3C_ENST00000507977.1_3'UTR	NM_138453.2	NP_612462.1	Q96E17	RAB3C_HUMAN	RAB3C, member RAS oncogene family	98					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		ATCACCACAGCCTATTATCGT	0.358																																						dbGAP											0													153.0	146.0	149.0					5																	58021869		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY026936	CCDS3976.1	5q13	2008-02-05			ENSG00000152932	ENSG00000152932		"""RAB, member RAS oncogene"""	30269	protein-coding gene	gene with protein product		612829				12296628	Standard	NM_138453		Approved		uc003jrp.3	Q96E17	OTTHUMG00000097053	ENST00000282878.4:c.293C>A	5.37:g.58021869C>A	ENSP00000282878:p.Ala98Asp			Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A98D	ENST00000282878.4	37	c.293	CCDS3976.1	5	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048370	0.93740	.	.	ENSG00000152932	ENST00000282878	T	0.80304	-1.36	5.4	5.4	0.78164	Small GTP-binding protein domain (1);	0.000000	0.56097	D	0.000031	D	0.91402	0.7287	M	0.87180	2.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92602	0.6092	10	0.87932	D	0	-7.9869	19.1916	0.93669	0.0:1.0:0.0:0.0	.	98	Q96E17	RAB3C_HUMAN	D	98	ENSP00000282878:A98D	ENSP00000282878:A98D	A	+	2	0	RAB3C	58057626	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.772000	0.85439	2.523000	0.85059	0.467000	0.42956	GCC	RAB3C	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom	ENSG00000152932		0.358	RAB3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3C	HGNC	protein_coding	OTTHUMT00000214156.2	364	0.00	0	C	NM_138453		58021869	58021869	+1	no_errors	ENST00000282878	ensembl	human	known	69_37n	missense	328	14.36	55	SNP	1.000	A
RBM34	23029	genome.wustl.edu	37	1	235301419	235301419	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:235301419G>A	ENST00000408888.3	-	7	1002	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	RBM34_ENST00000366606.3_Nonsense_Mutation_p.Q253*|RBM34_ENST00000495224.1_5'Flank			P42696	RBM34_HUMAN	RNA binding motif protein 34	258	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TTCAATGCTTGCGTGGCAGCA	0.313																																						dbGAP											0													109.0	104.0	105.0					1																	235301419		1885	4113	5998	-	-	-	SO:0001587	stop_gained	0				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.772C>T	1.37:g.235301419G>A	ENSP00000386226:p.Gln258*		A8K8J7|Q8N2Z8|Q9H5A1	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q258*	ENST00000408888.3	37	c.772	CCDS41477.2	1	.	.	.	.	.	.	.	.	.	.	G	9.890	1.203841	0.22121	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	.	.	.	5.19	4.07	0.47477	.	0.377443	0.29021	N	0.013399	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4138	6.693	0.23183	0.0:0.077:0.3117:0.6113	.	.	.	.	X	258;253;236	.	ENSP00000355565:Q253X	Q	-	1	0	RBM34	233368042	0.900000	0.30661	0.005000	0.12908	0.003000	0.03518	1.377000	0.34317	0.838000	0.34948	-0.485000	0.04761	CAA	RBM34	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000188739		0.313	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	421	0.24	1	G	NM_015014		235301419	235301419	-1	no_errors	ENST00000408888	ensembl	human	known	69_37n	nonsense	488	11.59	64	SNP	0.006	A
RGAG1	57529	genome.wustl.edu	37	X	109695584	109695584	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:109695584T>C	ENST00000465301.2	+	3	1985	c.1739T>C	c.(1738-1740)aTg>aCg	p.M580T	RGAG1_ENST00000540313.1_Missense_Mutation_p.M580T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	580										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACCCCACTAATGACAGCCCAA	0.502																																						dbGAP											0													114.0	97.0	103.0					X																	109695584		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1739T>C	X.37:g.109695584T>C	ENSP00000419786:p.Met580Thr		Q9P2M8	Missense_Mutation	SNP	NULL	p.M580T	ENST00000465301.2	37	c.1739	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	T	1.746	-0.490400	0.04322	.	.	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.46451	0.87;0.87	3.9	-0.301	0.12800	.	0.349335	0.20959	N	0.082596	T	0.27594	0.0678	L	0.45581	1.43	0.09310	N	0.999991	B	0.13145	0.007	B	0.12156	0.007	T	0.13176	-1.0519	9	.	.	.	0.0243	3.6949	0.08360	0.5265:0.1091:0.0:0.3644	.	580	Q8NET4	RGAG1_HUMAN	T	580	ENSP00000419786:M580T;ENSP00000441452:M580T	.	M	+	2	0	RGAG1	109582240	0.000000	0.05858	0.069000	0.20011	0.809000	0.45718	-0.599000	0.05700	-0.144000	0.11314	0.441000	0.28932	ATG	RGAG1	-	NULL	ENSG00000243978		0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	216	0.46	1	T	NM_020769		109695584	109695584	+1	no_errors	ENST00000465301	ensembl	human	known	69_37n	missense	109	40.22	74	SNP	0.093	C
RPL31P11	641311	genome.wustl.edu	37	1	161654572	161654572	+	RNA	DEL	T	T	-			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:161654572delT	ENST00000426558.1	-	0	470					NR_002595.1				ribosomal protein L31 pseudogene 11																		AACCTATGTCTTTTTTTTTTT	0.318																																						dbGAP											0																																										-	-	-			0					1q23.3	2010-06-16			ENSG00000213075	ENSG00000213075			35849	pseudogene	pseudogene						19123937	Standard	NR_002595		Approved		uc001gbc.3		OTTHUMG00000034536		1.37:g.161654572delT				RNA	DEL	-	NULL	ENST00000426558.1	37	NULL		1																																																																																			RPL31P11	-	-	ENSG00000213075		0.318	RPL31P11-002	KNOWN	basic	processed_transcript	RPL31P11	HGNC	pseudogene	OTTHUMT00000347090.2	19	0.00	0	T	NR_002595		161654572	161654572	-1	no_errors	ENST00000426558	ensembl	human	known	69_37n	rna	34	10.53	4	DEL	0.150	-
SACS	26278	genome.wustl.edu	37	13	23905513	23905513	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr13:23905513G>A	ENST00000382292.3	-	9	12775	c.12502C>T	c.(12502-12504)Ctg>Ttg	p.L4168L	SACS_ENST00000402364.1_Silent_p.L3418L|SACS_ENST00000382298.3_Silent_p.L4168L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4168					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCATAAGCAGAGTGTAATGA	0.423																																						dbGAP											0													139.0	140.0	140.0					13																	23905513		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12502C>T	13.37:g.23905513G>A			O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Silent	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.L4168	ENST00000382292.3	37	c.12502	CCDS9300.2	13																																																																																			SACS	-	NULL	ENSG00000151835		0.423	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	351	0.00	0	G	NM_014363		23905513	23905513	-1	no_errors	ENST00000382292	ensembl	human	known	69_37n	silent	145	23.28	44	SNP	0.997	A
SHC1	6464	genome.wustl.edu	37	1	154938529	154938529	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:154938529G>C	ENST00000368445.5	-	10	1491	c.1277C>G	c.(1276-1278)tCc>tGc	p.S426C	SHC1_ENST00000490667.1_5'Flank|SHC1_ENST00000368449.4_Missense_Mutation_p.S197C|SHC1_ENST00000448116.2_Missense_Mutation_p.S427C|SHC1_ENST00000606391.1_Missense_Mutation_p.S227C|SHC1_ENST00000368450.1_Missense_Mutation_p.S316C|PYGO2_ENST00000483463.1_5'Flank|SHC1_ENST00000368453.4_Missense_Mutation_p.S317C	NM_183001.4	NP_892113.4	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	426	CH1.|Pro-rich.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|Ras protein signal transduction (GO:0007265)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of growth (GO:0040008)|single organismal cell-cell adhesion (GO:0016337)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|Shc-EGFR complex (GO:0070435)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phospholipid binding (GO:0005543)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTTGACATAGGAGGGATCATC	0.592																																					NSCLC(4;32 234 1864 2492 3259 13747 17376)	dbGAP											0													98.0	94.0	96.0					1																	154938529		2203	4300	6503	-	-	-	SO:0001583	missense	0			U73377	CCDS1076.1, CCDS30881.1, CCDS44233.1, CCDS44234.1	1q21	2013-02-14	2002-01-14		ENSG00000160691	ENSG00000160691		"""SH2 domain containing"""	10840	protein-coding gene	gene with protein product		600560	"""SHC (Src homology 2 domain-containing) transforming protein 1"""	SHC		1623525	Standard	NM_003029		Approved	p66	uc001ffw.3	P29353	OTTHUMG00000037295	ENST00000368445.5:c.1277C>G	1.37:g.154938529G>C	ENSP00000357430:p.Ser426Cys		B5BU19|D3DV78|O15290|Q5T180|Q5T183|Q5T184|Q5T185|Q5T186|Q8N4K5|Q96CL1	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.S427C	ENST00000368445.5	37	c.1280	CCDS30881.1	1	.	.	.	.	.	.	.	.	.	.	G	9.210	1.030714	0.19512	.	.	ENSG00000160691	ENST00000368445;ENST00000448116;ENST00000368449;ENST00000368453;ENST00000368450;ENST00000368443;ENST00000368441;ENST00000414115	T;T;T;T;T;T	0.51071	0.72;0.72;0.72;0.72;0.72;0.72	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	T	0.26882	0.0658	L	0.37897	1.145	0.80722	D	1	B;B;B	0.14438	0.01;0.01;0.006	B;B;B	0.16722	0.016;0.01;0.01	T	0.05484	-1.0882	10	0.33940	T	0.23	.	17.3874	0.87420	0.0:0.0:1.0:0.0	.	205;427;426	Q59HB0;P29353-6;P29353	.;.;SHC1_HUMAN	C	426;427;227;317;316;363;98;180	ENSP00000357430:S426C;ENSP00000401303:S427C;ENSP00000357434:S227C;ENSP00000357438:S317C;ENSP00000357435:S316C;ENSP00000404908:S180C	ENSP00000357426:S98C	S	-	2	0	SHC1	153205153	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	5.268000	0.65536	2.448000	0.82819	0.557000	0.71058	TCC	SHC1	-	NULL	ENSG00000160691		0.592	SHC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SHC1	HGNC	protein_coding	OTTHUMT00000090781.2	140	0.00	0	G	NM_183001		154938529	154938529	-1	no_errors	ENST00000448116	ensembl	human	known	69_37n	missense	137	11.04	17	SNP	1.000	C
SIRT1	23411	genome.wustl.edu	37	10	69672725	69672725	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr10:69672725G>A	ENST00000212015.6	+	8	1905	c.1852G>A	c.(1852-1854)Gga>Aga	p.G618R	SIRT1_ENST00000403579.1_Missense_Mutation_p.G315R|SIRT1_ENST00000406900.1_Missense_Mutation_p.G315R|SIRT1_ENST00000432464.1_Missense_Mutation_p.G323R	NM_012238.4	NP_036370.2	Q96EB6	SIR1_HUMAN	sirtuin 1	618					angiogenesis (GO:0001525)|cell aging (GO:0007569)|cellular glucose homeostasis (GO:0001678)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to starvation (GO:0009267)|cellular response to tumor necrosis factor (GO:0071356)|cellular triglyceride homeostasis (GO:0035356)|cholesterol homeostasis (GO:0042632)|chromatin organization (GO:0006325)|chromatin silencing (GO:0006342)|chromatin silencing at rDNA (GO:0000183)|circadian regulation of gene expression (GO:0032922)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|establishment of chromatin silencing (GO:0006343)|fatty acid homeostasis (GO:0055089)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of chromatin silencing (GO:0006344)|methylation-dependent chromatin silencing (GO:0006346)|muscle organ development (GO:0007517)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|negative regulation of cell growth (GO:0030308)|negative regulation of cellular response to testosterone stimulus (GO:2000655)|negative regulation of cellular senescence (GO:2000773)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of helicase activity (GO:0051097)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of neuron death (GO:1901215)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|negative regulation of phosphorylation (GO:0042326)|negative regulation of prostaglandin biosynthetic process (GO:0031393)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|ovulation from ovarian follicle (GO:0001542)|peptidyl-lysine acetylation (GO:0018394)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular senescence (GO:2000774)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of chromatin silencing (GO:0031937)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of DNA repair (GO:0045739)|positive regulation of histone H3-K9 methylation (GO:0051574)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of macroautophagy (GO:0016239)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein deacetylation (GO:0006476)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|pyrimidine dimer repair by nucleotide-excision repair (GO:0000720)|regulation of bile acid biosynthetic process (GO:0070857)|regulation of cell proliferation (GO:0042127)|regulation of endodeoxyribonuclease activity (GO:0032071)|regulation of glucose metabolic process (GO:0010906)|regulation of mitotic cell cycle (GO:0007346)|regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of smooth muscle cell apoptotic process (GO:0034391)|response to hydrogen peroxide (GO:0042542)|response to insulin (GO:0032868)|response to oxidative stress (GO:0006979)|rRNA processing (GO:0006364)|single strand break repair (GO:0000012)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)|triglyceride mobilization (GO:0006642)|viral process (GO:0016032)|white fat cell differentiation (GO:0050872)	chromatin silencing complex (GO:0005677)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear heterochromatin (GO:0005720)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|rDNA heterochromatin (GO:0033553)	bHLH transcription factor binding (GO:0043425)|deacetylase activity (GO:0019213)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|histone deacetylase activity (GO:0004407)|HLH domain binding (GO:0043398)|identical protein binding (GO:0042802)|keratin filament binding (GO:1990254)|metal ion binding (GO:0046872)|mitogen-activated protein kinase binding (GO:0051019)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (GO:0017136)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent protein deacetylase activity (GO:0034979)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|protein deacetylase activity (GO:0033558)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						TTCAGTGGCTGGAACAGTGAG	0.408																																						dbGAP											0													62.0	69.0	67.0					10																	69672725		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083106	CCDS7273.1, CCDS44412.1	10q21	2010-06-25	2010-06-25		ENSG00000096717	ENSG00000096717			14929	protein-coding gene	gene with protein product		604479	"""sirtuin (silent mating type information regulation 2, S. cerevisiae, homolog) 1"", ""sirtuin (silent mating type information regulation 2 homolog) 1 (S. cerevisiae)"""			10381378	Standard	NM_012238		Approved	SIR2L1	uc001jnd.3	Q96EB6	OTTHUMG00000018340	ENST00000212015.6:c.1852G>A	10.37:g.69672725G>A	ENSP00000212015:p.Gly618Arg		Q2XNF6|Q5JVQ0|Q9GZR9|Q9Y6F0	Missense_Mutation	SNP	pfam_NAD-dep_deAcase_sirtuin,pfscan_NAD-dep_deAcase_sirtuin	p.G618R	ENST00000212015.6	37	c.1852	CCDS7273.1	10	.	.	.	.	.	.	.	.	.	.	G	16.19	3.052513	0.55218	.	.	ENSG00000096717	ENST00000212015;ENST00000432464;ENST00000406900;ENST00000403579	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	6.03	6.03	0.97812	.	0.576058	0.18816	N	0.130385	T	0.26340	0.0643	N	0.08118	0	0.31643	N	0.647818	B;B	0.32302	0.138;0.363	B;B	0.21917	0.013;0.037	T	0.14227	-1.0480	10	0.32370	T	0.25	-3.3489	20.1672	0.98154	0.0:0.0:1.0:0.0	.	315;618	B0QZ35;Q96EB6	.;SIRT1_HUMAN	R	618;323;315;315	ENSP00000212015:G618R;ENSP00000409208:G323R;ENSP00000384508:G315R;ENSP00000384063:G315R	ENSP00000212015:G618R	G	+	1	0	SIRT1	69342731	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.406000	0.52637	2.861000	0.98227	0.655000	0.94253	GGA	SIRT1	-	NULL	ENSG00000096717		0.408	SIRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT1	HGNC	protein_coding	OTTHUMT00000048296.1	266	0.00	0	G			69672725	69672725	+1	no_errors	ENST00000212015	ensembl	human	known	69_37n	missense	223	29.21	92	SNP	1.000	A
SMARCD3	6604	genome.wustl.edu	37	7	150937577	150937577	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr7:150937577T>C	ENST00000262188.8	-	9	1381	c.971A>G	c.(970-972)gAg>gGg	p.E324G	SMARCD3_ENST00000392811.2_Missense_Mutation_p.E311G|RP4-548D19.3_ENST00000607902.1_RNA|SMARCD3_ENST00000356800.2_Missense_Mutation_p.E311G|MIR671_ENST00000390183.1_RNA|SMARCD3_ENST00000477169.1_5'Flank	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	324	SWIB.				cardiac right ventricle formation (GO:0003219)|cellular lipid metabolic process (GO:0044255)|chromatin remodeling (GO:0006338)|muscle cell differentiation (GO:0042692)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of protein binding (GO:0043393)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|secondary heart field specification (GO:0003139)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|receptor binding (GO:0005102)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGGAATCTCAGAAAACTT	0.512																																						dbGAP											0													77.0	82.0	80.0					7																	150937577		2203	4300	6503	-	-	-	SO:0001583	missense	0			U66619	CCDS5924.1, CCDS34780.1	7q35-q36	2008-07-18			ENSG00000082014	ENSG00000082014			11108	protein-coding gene	gene with protein product	"""mammalian chromatin remodeling complex BRG1-associated factor 60C"", ""Swp73-like protein"", ""SWI/SNF complex 60 kDa subunit C"", ""60kDa BRG-1/Brm associated factor subunit c"""	601737				8804307, 9693044	Standard	NM_001003801		Approved	BAF60C, Rsc6p, CRACD3	uc003wjs.3	Q6STE5	OTTHUMG00000157431	ENST00000262188.8:c.971A>G	7.37:g.150937577T>C	ENSP00000262188:p.Glu324Gly		D3DX10|Q2YD86|Q75MJ2|Q75MR8|Q92926|Q9BUH1	Missense_Mutation	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	p.E324G	ENST00000262188.8	37	c.971	CCDS34780.1	7	.	.	.	.	.	.	.	.	.	.	T	22.8	4.337677	0.81911	.	.	ENSG00000082014	ENST00000262188;ENST00000392811;ENST00000356800;ENST00000347683	T;T;T	0.51325	0.71;0.71;0.71	5.16	5.16	0.70880	SWIB domain (1);SWIB/MDM2 domain (2);	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.82630	2.6	0.80722	D	1	D;P	0.61080	0.989;0.741	D;P	0.70487	0.969;0.593	T	0.74551	-0.3628	10	0.72032	D	0.01	-30.806	12.9827	0.58572	0.0:0.0:0.0:1.0	.	311;324	Q6STE5-2;Q6STE5	.;SMRD3_HUMAN	G	324;311;311;276	ENSP00000262188:E324G;ENSP00000376558:E311G;ENSP00000349254:E311G	ENSP00000262188:E324G	E	-	2	0	SMARCD3	150568510	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.968000	0.87980	1.949000	0.56562	0.460000	0.39030	GAG	SMARCD3	-	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain	ENSG00000082014		0.512	SMARCD3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCD3	HGNC	protein_coding	OTTHUMT00000348825.1	456	0.00	0	T	NM_001003801		150937577	150937577	-1	no_errors	ENST00000262188	ensembl	human	known	69_37n	missense	218	19.26	52	SNP	1.000	C
SPANXN5	494197	genome.wustl.edu	37	X	52825543	52825543	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:52825543C>G	ENST00000375511.3	-	2	956	c.204G>C	c.(202-204)gaG>gaC	p.E68D		NM_001009616.3	NP_001009616.1	Q5MJ07	SPXN5_HUMAN	SPANX family, member N5	68										large_intestine(1)|lung(5)|skin(2)	8	Ovarian(276;0.236)					ACTGGTCATTCTCCAGTTGAT	0.418																																						dbGAP											0													216.0	178.0	191.0					X																	52825543		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS35295.1	Xp11.22	2009-03-25				ENSG00000204363			33178	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 10"""	300668				14973187, 17012309	Standard	NM_001009616		Approved	SPANX-N5, CT11.10	uc004drc.1	Q5MJ07		ENST00000375511.3:c.204G>C	X.37:g.52825543C>G	ENSP00000364661:p.Glu68Asp			Missense_Mutation	SNP	pfam_SPANX_prot	p.E68D	ENST00000375511.3	37	c.204	CCDS35295.1	X	.	.	.	.	.	.	.	.	.	.	c	12.31	1.899327	0.33535	.	.	ENSG00000204363	ENST00000375511	T	0.08102	3.13	0.199	0.199	0.15175	.	.	.	.	.	T	0.12347	0.0300	.	.	.	0.09310	N	1	D	0.61080	0.989	P	0.57204	0.815	T	0.30119	-0.9989	7	0.20519	T	0.43	.	.	.	.	.	68	Q5MJ07	SPXN5_HUMAN	D	68	ENSP00000364661:E68D	ENSP00000364661:E68D	E	-	3	2	SPANXN5	52842268	0.019000	0.18553	0.138000	0.22173	0.138000	0.21146	0.192000	0.17096	0.282000	0.22254	0.287000	0.19450	GAG	SPANXN5	-	pfam_SPANX_prot	ENSG00000204363		0.418	SPANXN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXN5	HGNC	protein_coding	OTTHUMT00000056690.2	1165	0.00	0	C	NM_001009616		52825543	52825543	-1	no_errors	ENST00000375511	ensembl	human	known	69_37n	missense	803	15.12	143	SNP	0.140	G
SPARCL1	8404	genome.wustl.edu	37	4	88415533	88415533	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr4:88415533A>G	ENST00000282470.6	-	4	889	c.419T>C	c.(418-420)tTt>tCt	p.F140S	SPARCL1_ENST00000418378.1_Missense_Mutation_p.F140S|SPARCL1_ENST00000503414.1_Missense_Mutation_p.F15S	NM_004684.4	NP_004675.3	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	140					signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		AGGAGCCAAAAAATCAGTGTT	0.373																																						dbGAP											0													149.0	150.0	149.0					4																	88415533		2203	4300	6503	-	-	-	SO:0001583	missense	0			X86693	CCDS3622.1	4q22-q25	2013-01-10	2008-08-29		ENSG00000152583	ENSG00000152583		"""EF-hand domain containing"""	11220	protein-coding gene	gene with protein product		606041	"""SPARC-like 1 (mast9, hevin)"""			8488563, 7600298, 16844696	Standard	NM_001128310		Approved	MAST9	uc003hqs.4	Q14515	OTTHUMG00000130605	ENST00000282470.6:c.419T>C	4.37:g.88415533A>G	ENSP00000282470:p.Phe140Ser		B4E2Z0|E7ESU2|Q14800	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2	p.F140S	ENST00000282470.6	37	c.419	CCDS3622.1	4	.	.	.	.	.	.	.	.	.	.	A	3.361	-0.130570	0.06753	.	.	ENSG00000152583	ENST00000282470;ENST00000418378;ENST00000438050;ENST00000503414;ENST00000541496;ENST00000509407;ENST00000434434	T;T;T;T;T	0.38401	2.39;2.39;1.81;1.38;1.14	4.22	1.75	0.24633	.	0.813663	0.11418	N	0.566046	T	0.19208	0.0461	N	0.19112	0.55	0.09310	N	1	B;B	0.17852	0.024;0.024	B;B	0.16722	0.016;0.016	T	0.26430	-1.0103	10	0.21014	T	0.42	0.3315	3.4699	0.07563	0.6975:0.0:0.1057:0.1968	.	140;140	Q8N4S1;Q14515	.;SPRL1_HUMAN	S	140;140;15;15;15;140;140	ENSP00000282470:F140S;ENSP00000414856:F140S;ENSP00000422903:F15S;ENSP00000423483:F140S;ENSP00000416971:F140S	ENSP00000282470:F140S	F	-	2	0	SPARCL1	88634557	0.056000	0.20664	0.003000	0.11579	0.000000	0.00434	1.073000	0.30691	0.401000	0.25424	-0.333000	0.08304	TTT	SPARCL1	-	pirsf_SPARC-like_p1	ENSG00000152583		0.373	SPARCL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPARCL1	HGNC	protein_coding	OTTHUMT00000253059.2	569	0.00	0	A			88415533	88415533	-1	no_errors	ENST00000282470	ensembl	human	known	69_37n	missense	257	25.72	89	SNP	0.004	G
SREBF2	6721	genome.wustl.edu	37	22	42271676	42271676	+	Missense_Mutation	SNP	C	C	G	rs201572828		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr22:42271676C>G	ENST00000361204.4	+	7	1500	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	445	Interaction with LMNA. {ECO:0000250}.				cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTGGCTTCTCTCCCTACTCC	0.512																																						dbGAP											0													96.0	97.0	97.0					22																	42271676		2203	4300	6503	-	-	-	SO:0001583	missense	0			U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.1334C>G	22.37:g.42271676C>G	ENSP00000354476:p.Ser445Cys		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.S445C	ENST00000361204.4	37	c.1334	CCDS14023.1	22	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475606	0.84640	.	.	ENSG00000198911	ENST00000361204;ENST00000444813;ENST00000457567	T	0.64991	-0.13	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.80819	0.4696	M	0.75777	2.31	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81022	-0.1121	10	0.72032	D	0.01	-27.1889	20.3854	0.98941	0.0:1.0:0.0:0.0	.	445	Q12772	SRBP2_HUMAN	C	445	ENSP00000354476:S445C	ENSP00000354476:S445C	S	+	2	0	SREBF2	40601622	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	5.999000	0.70665	2.825000	0.97269	0.655000	0.94253	TCT	SREBF2	-	NULL	ENSG00000198911		0.512	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SREBF2	HGNC	protein_coding	OTTHUMT00000321956.1	144	0.00	0	C	NM_004599		42271676	42271676	+1	no_errors	ENST00000361204	ensembl	human	known	69_37n	missense	146	11.98	20	SNP	1.000	G
SRRM4	84530	genome.wustl.edu	37	12	119419693	119419693	+	Silent	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:119419693G>A	ENST00000267260.4	+	1	394	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	2					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.A2A(2)|p.A99A(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TGGCGATGGCGAGCGTTCAGC	0.627																																						dbGAP											3	Substitution - coding silent(3)	lung(3)											22.0	24.0	23.0					12																	119419693		1905	4103	6008	-	-	-	SO:0001819	synonymous_variant	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.6G>A	12.37:g.119419693G>A			A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Silent	SNP	NULL	p.A2	ENST00000267260.4	37	c.6	CCDS44994.1	12																																																																																			SRRM4	-	NULL	ENSG00000139767		0.627	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM4	HGNC	protein_coding	OTTHUMT00000401640.2	57	0.00	0	G	NM_194286		119419693	119419693	+1	no_errors	ENST00000267260	ensembl	human	known	69_37n	silent	28	27.50	11	SNP	0.977	A
STAG1	10274	genome.wustl.edu	37	3	136062775	136062775	+	Silent	SNP	T	T	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr3:136062775T>C	ENST00000383202.2	-	30	3601	c.3345A>G	c.(3343-3345)ccA>ccG	p.P1115P	STAG1_ENST00000536929.1_Silent_p.P699P|STAG1_ENST00000434713.2_Silent_p.P855P|STAG1_ENST00000236698.5_Silent_p.P1115P	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1115					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						ATGTGAGTTGTGGTGCTGGCA	0.488																																						dbGAP											0													127.0	112.0	117.0					3																	136062775		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.3345A>G	3.37:g.136062775T>C			O00539|Q6P275	Silent	SNP	pfam_STAG,superfamily_ARM-type_fold	p.P1115	ENST00000383202.2	37	c.3345	CCDS3090.1	3																																																																																			STAG1	-	NULL	ENSG00000118007		0.488	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	255	0.00	0	T	NM_005862		136062775	136062775	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	silent	250	10.64	30	SNP	0.961	C
STAG1	10274	genome.wustl.edu	37	3	136076644	136076644	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr3:136076644C>G	ENST00000383202.2	-	28	3239	c.2983G>C	c.(2983-2985)Gag>Cag	p.E995Q	STAG1_ENST00000536929.1_Missense_Mutation_p.E579Q|STAG1_ENST00000434713.2_Missense_Mutation_p.E735Q|STAG1_ENST00000236698.5_Missense_Mutation_p.E995Q	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	995					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GGTGGATACTCTTGTCCTTTC	0.333																																						dbGAP											0													109.0	105.0	106.0					3																	136076644		2203	4298	6501	-	-	-	SO:0001583	missense	0			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.2983G>C	3.37:g.136076644C>G	ENSP00000372689:p.Glu995Gln		O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.E995Q	ENST00000383202.2	37	c.2983	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	15.13	2.742439	0.49151	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713;ENST00000536929	T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73	5.49	4.62	0.57501	.	0.140515	0.64402	D	0.000006	T	0.60483	0.2272	L	0.38838	1.175	0.54753	D	0.999988	P;B	0.40794	0.729;0.014	B;B	0.37451	0.25;0.017	T	0.59931	-0.7361	10	0.34782	T	0.22	.	14.373	0.66854	0.0:0.9286:0.0:0.0714	.	995;995	Q6P275;Q8WVM7	.;STAG1_HUMAN	Q	995;995;735;579	ENSP00000372689:E995Q;ENSP00000236698:E995Q;ENSP00000404396:E735Q;ENSP00000445787:E579Q	ENSP00000236698:E995Q	E	-	1	0	STAG1	137559334	1.000000	0.71417	0.997000	0.53966	0.995000	0.86356	7.814000	0.86154	1.300000	0.44818	0.650000	0.86243	GAG	STAG1	-	NULL	ENSG00000118007		0.333	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	472	0.00	0	C	NM_005862		136076644	136076644	-1	no_errors	ENST00000383202	ensembl	human	known	69_37n	missense	482	10.58	57	SNP	1.000	G
THRA	7067	genome.wustl.edu	37	17	38233180	38233180	+	Frame_Shift_Del	DEL	C	C	-	rs1126503		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr17:38233180delC	ENST00000264637.4	+	3	690	c.110delC	c.(109-111)accfs	p.T37fs	THRA_ENST00000394121.4_Frame_Shift_Del_p.T37fs|THRA_ENST00000546243.1_Frame_Shift_Del_p.T37fs|THRA_ENST00000450525.2_Frame_Shift_Del_p.T37fs|THRA_ENST00000584985.1_Frame_Shift_Del_p.T37fs	NM_003250.5	NP_003241.2	P10827	THA_HUMAN	thyroid hormone receptor, alpha	37	Modulating.			T -> S (in Ref. 4; CAA68539). {ECO:0000305}.	cartilage condensation (GO:0001502)|cytoplasmic sequestering of transcription factor (GO:0042994)|erythrocyte differentiation (GO:0030218)|female courtship behavior (GO:0008050)|gene expression (GO:0010467)|hormone-mediated signaling pathway (GO:0009755)|learning or memory (GO:0007611)|negative regulation of DNA-templated transcription, initiation (GO:2000143)|negative regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0017055)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of female receptivity (GO:0045925)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of heart contraction (GO:0008016)|regulation of lipid catabolic process (GO:0050994)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of thyroid hormone mediated signaling pathway (GO:0002155)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cold (GO:0009409)|thyroid gland development (GO:0030878)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Type I pneumocyte differentiation (GO:0060509)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|steroid receptor RNA activator RNA binding (GO:0002153)|TBP-class protein binding (GO:0017025)|thyroid hormone binding (GO:0070324)|thyroid hormone receptor activity (GO:0004887)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Dextrothyroxine(DB00509)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	TCCCTGAAAACCAGCATGTCA	0.562																																						dbGAP											0													103.0	77.0	86.0					17																	38233180		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			J03239	CCDS11360.1, CCDS42316.1, CCDS58546.1	17q21.1	2013-01-16	2011-05-19		ENSG00000126351	ENSG00000126351		"""Nuclear hormone receptors"""	11796	protein-coding gene	gene with protein product		190120	"""thyroid hormone receptor, alpha (avian erythroblastic leukemia viral (v-erb-a) oncogene homolog)"", ""thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homolog, avian)"""	THRA1, THRA2, ERBA1		6323162, 6589608	Standard	NM_003250		Approved	EAR-7.1/EAR-7.2, THRA3, AR7, ERBA, NR1A1	uc002htw.3	P10827	OTTHUMG00000133332	ENST00000264637.4:c.110delC	17.37:g.38233180delC	ENSP00000264637:p.Thr37fs		A8K3B5|P21205|Q8N6A1|Q96H73	Frame_Shift_Del	DEL	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.S38fs	ENST00000264637.4	37	c.110	CCDS11360.1	17																																																																																			THRA	-	NULL	ENSG00000126351		0.562	THRA-001	KNOWN	basic|CCDS	protein_coding	THRA	HGNC	protein_coding	OTTHUMT00000257160.2	186	0.00	0	C			38233180	38233180	+1	no_errors	ENST00000264637	ensembl	human	known	69_37n	frame_shift_del	103	29.33	44	DEL	1.000	-
TANGO6	79613	genome.wustl.edu	37	16	68943146	68943147	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	AG	AG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr16:68943146_68943147delAG	ENST00000261778.1	+	11	1845_1846	c.1833_1834delAG	c.(1831-1836)acagagfs	p.E612fs		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	612						integral component of membrane (GO:0016021)											AAAATGAAACAGAGTTAAAAAC	0.455																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.1833_1834delAG	16.37:g.68943148_68943149delAG	ENSP00000261778:p.Glu612fs		Q569F9|Q9H9K1	Frame_Shift_Del	DEL	pfam_DUF2411,superfamily_ARM-type_fold	p.E612fs	ENST00000261778.1	37	c.1833_1834	CCDS45516.1	16																																																																																			TMCO7	-	superfamily_ARM-type_fold	ENSG00000103047		0.455	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	252	0.00	0	AG	XM_928235.2		68943146	68943147	+1	no_errors	ENST00000261778	ensembl	human	known	69_37n	frame_shift_del	170	12.37	24	DEL	0.996:0.996	-
TNN	63923	genome.wustl.edu	37	1	175096180	175096180	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr1:175096180G>A	ENST00000239462.4	+	13	3117	c.3004G>A	c.(3004-3006)Ggc>Agc	p.G1002S		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1002	Fibronectin type-III 9. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)	cell surface (GO:0009986)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TCAGATCCACGGCTACATTCT	0.517																																						dbGAP											0													179.0	160.0	166.0					1																	175096180		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK127044	CCDS30943.1	1q23-q24	2013-02-11			ENSG00000120332	ENSG00000120332		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	22942	protein-coding gene	gene with protein product							Standard	NM_022093		Approved		uc001gkl.1	Q9UQP3	OTTHUMG00000034882	ENST00000239462.4:c.3004G>A	1.37:g.175096180G>A	ENSP00000239462:p.Gly1002Ser		B9EGP3|Q5R360	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.G1002S	ENST00000239462.4	37	c.3004	CCDS30943.1	1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852289	0.51270	.	.	ENSG00000120332	ENST00000239462;ENST00000539081	T	0.60040	0.22	5.14	5.14	0.70334	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76842	0.4044	M	0.82193	2.58	0.49582	D	0.9998	D	0.76494	0.999	D	0.70935	0.971	T	0.77744	-0.2473	10	0.39692	T	0.17	.	16.3785	0.83418	0.0:0.0:1.0:0.0	.	1002	Q9UQP3	TENN_HUMAN	S	1002;825	ENSP00000239462:G1002S	ENSP00000239462:G1002S	G	+	1	0	TNN	173362803	1.000000	0.71417	0.978000	0.43139	0.156000	0.22039	6.350000	0.73017	2.389000	0.81357	0.563000	0.77884	GGC	TNN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000120332		0.517	TNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNN	HGNC	protein_coding	OTTHUMT00000084422.1	427	0.00	0	G	XM_040527		175096180	175096180	+1	no_errors	ENST00000239462	ensembl	human	known	69_37n	missense	427	14.06	70	SNP	0.999	A
TP53	7157	genome.wustl.edu	37	17	7577082	7577082	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr17:7577082C>T	ENST00000269305.4	-	8	1045	c.856G>A	c.(856-858)Gaa>Aaa	p.E286K	TP53_ENST00000445888.2_Missense_Mutation_p.E286K|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.E286K|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.E286K|TP53_ENST00000359597.4_Missense_Mutation_p.E286K	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:11023613, ECO:0000269|PubMed:8316628}.|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:8829627}.|E -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.E286K(58)|p.E286*(22)|p.0?(8)|p.E286Q(5)|p.?(2)|p.E286fs*59(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.G279fs*59(1)|p.R283fs*59(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGATTCTCTTCCTCTGTGCGC	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	112	Substitution - Missense(63)|Substitution - Nonsense(22)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(6)|Unknown(2)	lung(18)|upper_aerodigestive_tract(13)|breast(10)|large_intestine(9)|urinary_tract(9)|skin(9)|oesophagus(9)|haematopoietic_and_lymphoid_tissue(8)|liver(7)|central_nervous_system(6)|bone(4)|ovary(3)|stomach(2)|vulva(1)|soft_tissue(1)|eye(1)|biliary_tract(1)|endometrium(1)	GRCh37	CM076567	TP53	M							95.0	81.0	86.0					17																	7577082		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.856G>A	17.37:g.7577082C>T	ENSP00000269305:p.Glu286Lys		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.E286K	ENST00000269305.4	37	c.856	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	22.6	4.310731	0.81358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99856	-7.21;-7.21;-7.21;-7.21;-7.21;-7.21	4.99	4.99	0.66335	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.92077	3.27	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.999;0.999;0.999	D;D;D;D	0.77557	0.983;0.985;0.982;0.99	D	0.96355	0.9261	10	0.87932	D	0	-23.2961	15.807	0.78520	0.0:1.0:0.0:0.0	.	286;286;286;286	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	K	286;286;286;286;286;275;154	ENSP00000352610:E286K;ENSP00000269305:E286K;ENSP00000398846:E286K;ENSP00000391127:E286K;ENSP00000391478:E286K;ENSP00000425104:E154K	ENSP00000269305:E286K	E	-	1	0	TP53	7517807	1.000000	0.71417	0.972000	0.41901	0.455000	0.32408	7.587000	0.82613	2.579000	0.87056	0.462000	0.41574	GAA	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.557	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	271	0.00	0	C	NM_000546		7577082	7577082	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	missense	35	42.62	26	SNP	1.000	T
TSPYL2	64061	genome.wustl.edu	37	X	53113974	53113974	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:53113974T>C	ENST00000375442.4	+	3	1055	c.923T>C	c.(922-924)aTg>aCg	p.M308T		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	308					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|chromatin modification (GO:0016568)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of DNA replication (GO:0008156)|nucleosome assembly (GO:0006334)|regulation of protein kinase activity (GO:0045859)|regulation of signal transduction (GO:0009966)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	rDNA binding (GO:0000182)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						GGCTACAAAATGAAGCTGTAC	0.532																																						dbGAP											0													123.0	95.0	104.0					X																	53113974		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF273046	CCDS14350.1	Xp11	2014-06-09			ENSG00000184205	ENSG00000184205			24358	protein-coding gene	gene with protein product		300564				11318608, 11395479	Standard	NM_022117		Approved	SE20-4, HRIHFB2216, CTCL, DENTT, CDA1, CINAP, TSPX	uc004drw.3	Q9H2G4	OTTHUMG00000021597	ENST00000375442.4:c.923T>C	X.37:g.53113974T>C	ENSP00000364591:p.Met308Thr		O94799|Q96DG7|Q9BZW6	Missense_Mutation	SNP	pfam_NAP_family	p.M308T	ENST00000375442.4	37	c.923	CCDS14350.1	X	.	.	.	.	.	.	.	.	.	.	T	15.63	2.891098	0.52014	.	.	ENSG00000184205	ENST00000375442	T	0.25912	1.77	3.78	3.78	0.43462	.	0.000000	0.52532	D	0.000075	T	0.29620	0.0739	L	0.32530	0.975	0.33577	D	0.599378	D	0.53885	0.963	P	0.54401	0.751	T	0.44574	-0.9319	10	0.87932	D	0	-21.2525	9.9889	0.41858	0.0:0.0:0.0:1.0	.	308	Q9H2G4	TSYL2_HUMAN	T	308	ENSP00000364591:M308T	ENSP00000364591:M308T	M	+	2	0	TSPYL2	53130699	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.881000	0.63114	1.716000	0.51395	0.417000	0.27973	ATG	TSPYL2	-	pfam_NAP_family	ENSG00000184205		0.532	TSPYL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL2	HGNC	protein_coding	OTTHUMT00000056718.1	295	0.00	0	T	NM_022117		53113974	53113974	+1	no_errors	ENST00000375442	ensembl	human	known	69_37n	missense	232	11.32	30	SNP	1.000	C
TUBB4A	10382	genome.wustl.edu	37	19	6495820	6495820	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr19:6495820C>T	ENST00000264071.2	-	4	1061	c.690G>A	c.(688-690)tcG>tcA	p.S230S	TUBB4A_ENST00000540257.1_Silent_p.S230S|CTD-2396E7.9_ENST00000599292.1_RNA|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	230					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										TCATGGTGGCCGACACCAGGT	0.632																																						dbGAP											0													90.0	76.0	81.0					19																	6495820		2203	4298	6501	-	-	-	SO:0001819	synonymous_variant	0			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.690G>A	19.37:g.6495820C>T			B3KQP4|Q969E5	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.S230	ENST00000264071.2	37	c.690	CCDS12168.1	19																																																																																			TUBB4A	-	superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin	ENSG00000104833		0.632	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	86	0.00	0	C	NM_006087		6495820	6495820	-1	no_errors	ENST00000264071	ensembl	human	known	69_37n	silent	66	18.29	15	SNP	0.912	T
USP9X	8239	genome.wustl.edu	37	X	41048627	41048627	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chrX:41048627G>A	ENST00000324545.8	+	26	4509	c.3876G>A	c.(3874-3876)atG>atA	p.M1292I	USP9X_ENST00000378308.2_Missense_Mutation_p.M1292I	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	1292					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TGGAAGTGATGACCTTATGTT	0.408																																					Ovarian(172;1807 2695 35459 49286)	dbGAP											0													190.0	169.0	176.0					X																	41048627		2199	4300	6499	-	-	-	SO:0001583	missense	0			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.3876G>A	X.37:g.41048627G>A	ENSP00000316357:p.Met1292Ile		O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.M1292I	ENST00000324545.8	37	c.3876	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	18.80	3.700018	0.68501	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.62498	0.02;0.02	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	L	0.43152	1.355	0.58432	D	0.999998	B;B	0.34399	0.452;0.323	B;B	0.36567	0.228;0.079	T	0.60485	-0.7254	10	0.48119	T	0.1	.	18.7453	0.91789	0.0:0.0:1.0:0.0	.	1292;1292	Q93008-1;Q93008	.;USP9X_HUMAN	I	1292	ENSP00000367558:M1292I;ENSP00000316357:M1292I	ENSP00000316357:M1292I	M	+	3	0	USP9X	40933571	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.444000	0.97578	2.373000	0.80994	0.422000	0.28245	ATG	USP9X	-	NULL	ENSG00000124486		0.408	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	685	0.00	0	G	NM_004652		41048627	41048627	+1	no_errors	ENST00000324545	ensembl	human	known	69_37n	missense	694	10.55	82	SNP	1.000	A
VWF	7450	genome.wustl.edu	37	12	6091108	6091108	+	Silent	SNP	C	C	T	rs267607359|rs267607360		TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:6091108C>T	ENST00000261405.5	-	42	7385	c.7131G>A	c.(7129-7131)ccG>ccA	p.P2377P		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2377					blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)	p.P2377P(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GCAAACGGTGCGGGGGGCAGG	0.607																																						dbGAP											1	Substitution - coding silent(1)	kidney(1)	GRCh37	CI983256	VWF	I	rs61750632						77.0	67.0	71.0					12																	6091108		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.7131G>A	12.37:g.6091108C>T			Q8TCE8|Q99806	Silent	SNP	pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C	p.P2377	ENST00000261405.5	37	c.7131	CCDS8539.1	12																																																																																			VWF	-	pirsf_VWF	ENSG00000110799		0.607	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VWF	HGNC	protein_coding	OTTHUMT00000399020.1	91	0.00	0	C	NM_000552		6091108	6091108	-1	no_errors	ENST00000261405	ensembl	human	known	69_37n	silent	48	18.64	11	SNP	0.000	T
WBSCR17	64409	genome.wustl.edu	37	7	70886058	70886058	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr7:70886058G>A	ENST00000333538.5	+	5	1563	c.929G>A	c.(928-930)tGg>tAg	p.W310*	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	310					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)	p.W310*(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAAAAGACTGGTGGGACGCC	0.577																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											66.0	67.0	67.0					7																	70886058		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.929G>A	7.37:g.70886058G>A	ENSP00000329654:p.Trp310*		Q8NFV9|Q9NTA8	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.W310*	ENST00000333538.5	37	c.929	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	45	11.478975	0.99566	.	.	ENSG00000185274	ENST00000333538	.	.	.	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	.	18.0015	0.89199	0.0:0.0:1.0:0.0	.	.	.	.	X	310	.	ENSP00000329654:W310X	W	+	2	0	WBSCR17	70523994	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.490000	0.84030	0.557000	0.71058	TGG	WBSCR17	-	pfam_Glyco_trans_2	ENSG00000185274		0.577	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	88	0.00	0	G	NM_022479		70886058	70886058	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	nonsense	18	68.42	39	SNP	1.000	A
WDR7	23335	genome.wustl.edu	37	18	54350050	54350050	+	Silent	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr18:54350050C>T	ENST00000254442.3	+	5	697	c.486C>T	c.(484-486)agC>agT	p.S162S	WDR7_ENST00000357574.3_Silent_p.S162S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	162					hematopoietic progenitor cell differentiation (GO:0002244)					NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		ACTGGATTAGCTCCATGAGTA	0.398																																						dbGAP											0													131.0	120.0	124.0					18																	54350050		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB011113	CCDS11962.1, CCDS11963.1	18q21.31	2013-01-09			ENSG00000091157	ENSG00000091157		"""WD repeat domain containing"""	13490	protein-coding gene	gene with protein product		613473				10828621	Standard	XM_005266674		Approved	KIAA0541, TRAG	uc002lgk.1	Q9Y4E6	OTTHUMG00000132721	ENST00000254442.3:c.486C>T	18.37:g.54350050C>T			A7E2C8|Q86UX5|Q86VP2|Q96PS7	Silent	SNP	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S162	ENST00000254442.3	37	c.486	CCDS11962.1	18																																																																																			WDR7	-	superfamily_Quinonprotein_ADH-like	ENSG00000091157		0.398	WDR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR7	HGNC	protein_coding	OTTHUMT00000256062.1	186	0.00	0	C			54350050	54350050	+1	no_errors	ENST00000254442	ensembl	human	known	69_37n	silent	91	18.02	20	SNP	1.000	T
ZFC3H1	196441	genome.wustl.edu	37	12	72013172	72013172	+	Silent	SNP	A	A	G			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr12:72013172A>G	ENST00000378743.3	-	27	5425	c.5067T>C	c.(5065-5067)ctT>ctC	p.L1689L		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1689					RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AAAATGGAAGAAGATTATCGC	0.338																																						dbGAP											0													57.0	52.0	53.0					12																	72013172		1808	4066	5874	-	-	-	SO:0001819	synonymous_variant	0			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.5067T>C	12.37:g.72013172A>G			Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Silent	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.L1689	ENST00000378743.3	37	c.5067	CCDS41813.1	12																																																																																			ZFC3H1	-	NULL	ENSG00000133858		0.338	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	233	0.00	0	A	NM_144982		72013172	72013172	-1	no_errors	ENST00000378743	ensembl	human	known	69_37n	silent	179	16.74	36	SNP	1.000	G
ZFP3	124961	genome.wustl.edu	37	17	4996237	4996237	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr17:4996237C>T	ENST00000318833.3	+	2	1774	c.1438C>T	c.(1438-1440)Caa>Taa	p.Q480*		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	480					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TTATGAGTGCCAAGAATGTCA	0.413																																						dbGAP											0													73.0	74.0	74.0					17																	4996237		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.1438C>T	17.37:g.4996237C>T	ENSP00000320347:p.Gln480*		A5PLL4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q480*	ENST00000318833.3	37	c.1438	CCDS11067.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.371151	0.97511	.	.	ENSG00000180787	ENST00000318833	.	.	.	4.01	3.02	0.34903	.	0.000000	0.35262	N	0.003338	.	.	.	.	.	.	0.42377	D	0.992476	.	.	.	.	.	.	.	.	.	.	0.11182	T	0.66	-16.3103	7.0577	0.25109	0.1988:0.6087:0.1924:0.0	.	.	.	.	X	480	.	ENSP00000320347:Q480X	Q	+	1	0	ZFP3	4936961	0.000000	0.05858	0.991000	0.47740	0.995000	0.86356	-0.430000	0.06973	1.253000	0.44018	0.650000	0.86243	CAA	ZFP3	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000180787		0.413	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP3	HGNC	protein_coding	OTTHUMT00000438979.1	204	0.00	0	C	NM_153018		4996237	4996237	+1	no_errors	ENST00000318833	ensembl	human	known	69_37n	nonsense	126	20.75	33	SNP	0.069	T
ZNF217	7764	genome.wustl.edu	37	20	52198134	52198134	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr20:52198134G>A	ENST00000371471.2	-	2	1657	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F	ZNF217_ENST00000540425.1_5'Flank|ZNF217_ENST00000302342.3_Missense_Mutation_p.S411F			O75362	ZN217_HUMAN	zinc finger protein 217	411					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			CCCGTCCACAGACATGGTGGG	0.632																																						dbGAP											0													46.0	48.0	47.0					20																	52198134		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF041259	CCDS13443.1	20q13.2	2013-01-08			ENSG00000171940	ENSG00000171940		"""Zinc fingers, C2H2-type"""	13009	protein-coding gene	gene with protein product		602967				9671742	Standard	NM_006526		Approved	ZABC1	uc002xwq.4	O75362	OTTHUMG00000032764	ENST00000371471.2:c.1232C>T	20.37:g.52198134G>A	ENSP00000360526:p.Ser411Phe		E1P5Y6|Q14DB8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S411F	ENST00000371471.2	37	c.1232	CCDS13443.1	20	.	.	.	.	.	.	.	.	.	.	G	16.20	3.054862	0.55325	.	.	ENSG00000171940	ENST00000371471;ENST00000302342	T;T	0.10099	2.91;2.91	5.7	5.7	0.88788	.	0.987668	0.08259	N	0.973405	T	0.21186	0.0510	L	0.36672	1.1	0.09310	N	1	D	0.54397	0.966	P	0.54401	0.751	T	0.29701	-1.0003	10	0.87932	D	0	-14.8713	14.3974	0.67020	0.0:0.1475:0.8525:0.0	.	411	O75362	ZN217_HUMAN	F	411	ENSP00000360526:S411F;ENSP00000304308:S411F	ENSP00000304308:S411F	S	-	2	0	ZNF217	51631541	0.414000	0.25408	0.006000	0.13384	0.428000	0.31595	3.755000	0.55197	2.686000	0.91538	0.591000	0.81541	TCT	ZNF217	-	NULL	ENSG00000171940		0.632	ZNF217-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF217	HGNC	protein_coding	OTTHUMT00000079757.2	65	0.00	0	G	NM_006526		52198134	52198134	-1	no_errors	ENST00000302342	ensembl	human	known	69_37n	missense	85	25.44	29	SNP	0.064	A
ZSCAN21	7589	genome.wustl.edu	37	7	99662436	99662436	+	3'UTR	SNP	C	C	T			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr7:99662436C>T	ENST00000292450.4	+	0	1782				ZNF3_ENST00000413658.2_Missense_Mutation_p.S124N|ZSCAN21_ENST00000543588.1_3'UTR|ZSCAN21_ENST00000456748.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21						positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGGTTCCACACTCGCCAGTTC	0.537																																						dbGAP											0													125.0	135.0	131.0					7																	99662436		2150	4249	6399	-	-	-	SO:0001624	3_prime_UTR_variant	0			AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.*196C>T	7.37:g.99662436C>T			A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.S124N	ENST00000292450.4	37	c.371	CCDS5681.1	7	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747540	0.30955	.	.	ENSG00000166526	ENST00000413658	T	0.01918	4.56	2.74	1.84	0.25277	.	.	.	.	.	T	0.01421	0.0046	.	.	.	0.23559	N	0.997417	B	0.24920	0.114	B	0.17098	0.017	T	0.49409	-0.8943	8	0.19147	T	0.46	.	5.657	0.17648	0.0:0.8428:0.0:0.1572	.	124	P17036-2	.	N	124	ENSP00000399951:S124N	ENSP00000399951:S124N	S	-	2	0	ZNF3	99500372	0.000000	0.05858	0.001000	0.08648	0.094000	0.18550	0.481000	0.22260	0.756000	0.33013	0.543000	0.68304	AGT	ZNF3	-	pfscan_Krueppel-associated_box	ENSG00000166526		0.537	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF3	HGNC	protein_coding	OTTHUMT00000336166.1	163	0.00	0	C	NM_145914		99662436	99662436	-1	no_errors	ENST00000413658	ensembl	human	known	69_37n	missense	101	26.09	36	SNP	0.004	T
ZZEF1	23140	genome.wustl.edu	37	17	3961435	3961435	+	Missense_Mutation	SNP	G	G	C			TCGA-BH-A18U-01A-21D-A12B-09	TCGA-BH-A18U-11A-23D-A12B-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a8400863-c145-4c6c-bcf3-e4cc4d816d22	f0d1235d-8fc6-4849-8506-9d8dce2eabaa	g.chr17:3961435G>C	ENST00000381638.2	-	32	5142	c.5018C>G	c.(5017-5019)gCc>gGc	p.A1673G	RNA5SP434_ENST00000516647.1_RNA	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1673							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ACAGGATAAGGCAGGGAGCAA	0.483																																						dbGAP											0													56.0	50.0	53.0					17																	3961435		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.5018C>G	17.37:g.3961435G>C	ENSP00000371051:p.Ala1673Gly		A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Missense_Mutation	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.A1673G	ENST00000381638.2	37	c.5018	CCDS11043.1	17	.	.	.	.	.	.	.	.	.	.	G	22.5	4.302177	0.81136	.	.	ENSG00000074755	ENST00000381638	T	0.28666	1.6	5.02	5.02	0.67125	.	0.058789	0.64402	D	0.000002	T	0.54159	0.1841	M	0.64997	1.995	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.70487	0.969;0.931	T	0.58154	-0.7686	10	0.87932	D	0	-12.9942	18.3653	0.90389	0.0:0.0:1.0:0.0	.	1673;1673	O43149-2;O43149	.;ZZEF1_HUMAN	G	1673	ENSP00000371051:A1673G	ENSP00000371051:A1673G	A	-	2	0	ZZEF1	3908184	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.390000	0.97246	2.348000	0.79779	0.655000	0.94253	GCC	ZZEF1	-	NULL	ENSG00000074755		0.483	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	215	0.00	0	G	NM_015113		3961435	3961435	-1	no_errors	ENST00000381638	ensembl	human	known	69_37n	missense	103	18.75	24	SNP	1.000	C
