#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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA12	26154	genome.wustl.edu	37	2	215855600	215855600	+	Nonsense_Mutation	SNP	A	A	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:215855600A>C	ENST00000272895.7	-	24	3669	c.3450T>G	c.(3448-3450)taT>taG	p.Y1150*	ABCA12_ENST00000389661.4_Nonsense_Mutation_p.Y832*	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1150					cellular homeostasis (GO:0019725)|ceramide transport (GO:0035627)|establishment of skin barrier (GO:0061436)|keratinization (GO:0031424)|lipid homeostasis (GO:0055088)|lipid transport (GO:0006869)|lung alveolus development (GO:0048286)|phospholipid efflux (GO:0033700)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of protein localization to cell surface (GO:2000010)|protein localization to plasma membrane (GO:0072659)|regulated secretory pathway (GO:0045055)|secretion by cell (GO:0032940)|surfactant homeostasis (GO:0043129)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|epidermal lamellar body (GO:0097209)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	apolipoprotein A-I receptor binding (GO:0034191)|ATP binding (GO:0005524)|lipid transporter activity (GO:0005319)|lipid-transporting ATPase activity (GO:0034040)|receptor binding (GO:0005102)			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTCCGAAAAATACAGGAACA	0.393																																					Ovarian(66;664 1488 5121 34295)												0													108.0	105.0	106.0					2																	215855600		2203	4300	6503	SO:0001587	stop_gained	26154			AF418105	CCDS33372.1, CCDS33373.1	2q34	2012-03-14			ENSG00000144452	ENSG00000144452		"""ATP binding cassette transporters / subfamily A"""	14637	protein-coding gene	gene with protein product		607800	"""ichthyosis congenita II, lamellar ichthyosis B"""	ICR2B		11435397, 12915478, 8845852, 10094194	Standard	NM_015657		Approved	DKFZP434G232, LI2	uc002vew.3	Q86UK0	OTTHUMG00000154801	ENST00000272895.7:c.3450T>G	2.37:g.215855600A>C	ENSP00000272895:p.Tyr1150*		Q53QE2|Q53S55|Q8IZW6|Q96JT3|Q9Y4M5	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.Y1150*	ENST00000272895.7	37	c.3450	CCDS33372.1	2	.	.	.	.	.	.	.	.	.	.	A	41	8.582422	0.98872	.	.	ENSG00000144452	ENST00000272895;ENST00000389661	.	.	.	5.91	-0.474	0.12108	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	.	12.1762	0.54186	0.4286:0.0:0.5714:0.0	.	.	.	.	X	1150;832	.	ENSP00000272895:Y1150X	Y	-	3	2	ABCA12	215563845	1.000000	0.71417	0.993000	0.49108	0.977000	0.68977	3.115000	0.50391	-0.294000	0.08973	-1.080000	0.02220	TAT	ABCA12	-	NULL		0.393	ABCA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA12	HGNC	protein_coding	OTTHUMT00000337111.1	A	NM_173076		215855600	-1	no_errors	ENST00000272895	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ABCC12	94160	genome.wustl.edu	37	16	48125046	48125046	+	Silent	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:48125046G>C	ENST00000311303.3	-	23	3615	c.3270C>G	c.(3268-3270)ctC>ctG	p.L1090L	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1090						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TGTATTCCCTGAGCAGCTCCA	0.498																																																	0													159.0	154.0	156.0					16																	48125046		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3270C>G	16.37:g.48125046G>C			Q49AL2|Q8TAF0|Q8TEY2	Silent	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	p.L1090	ENST00000311303.3	37	c.3270	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC_transptrTM_dom_typ1		0.498	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	G	NM_033226		48125046	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	0.005	C
ABCC12	94160	genome.wustl.edu	37	16	48130714	48130714	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:48130714C>T	ENST00000311303.3	-	22	3483	c.3138G>A	c.(3136-3138)ctG>ctA	p.L1046L	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1046	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AGGAGAAACTCAGGGTCACCA	0.502																																																	0													210.0	182.0	192.0					16																	48130714		2201	4300	6501	SO:0001819	synonymous_variant	94160			AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.3138G>A	16.37:g.48130714C>T			Q49AL2|Q8TAF0|Q8TEY2	Silent	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	p.L1046	ENST00000311303.3	37	c.3138	CCDS10730.1	16																																																																																			ABCC12	-	superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1		0.502	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC12	HGNC	protein_coding	OTTHUMT00000256837.1	C	NM_033226		48130714	-1	no_errors	ENST00000311303	ensembl	human	known	70_37	silent	SNP	0.998	T
ACE	1636	genome.wustl.edu	37	17	61559097	61559097	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:61559097C>T	ENST00000290866.4	+	7	1140	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000538928.1_Silent_p.F372F|ACE_ENST00000428043.1_Silent_p.F372F	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	372	Peptidase M2 1.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GGAAAGACTTCAGGTTCAGAC	0.647																																																	0													47.0	54.0	52.0					17																	61559097		2203	4300	6503	SO:0001819	synonymous_variant	1636			J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.1116C>T	17.37:g.61559097C>T			B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Silent	SNP	pfam_Peptidase_M2,prints_Peptidase_M2	p.F372	ENST00000290866.4	37	c.1116	CCDS11637.1	17																																																																																			ACE	-	pfam_Peptidase_M2		0.647	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACE	HGNC	protein_coding	OTTHUMT00000337675.2	C			61559097	+1	no_errors	ENST00000290866	ensembl	human	known	70_37	silent	SNP	1.000	T
ACRBP	84519	genome.wustl.edu	37	12	6752714	6752714	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:6752714G>A	ENST00000229243.2	-	6	1161	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Silent_p.F323F	NM_032489.2	NP_115878.2			acrosin binding protein											NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						CCGACTTCCCGAAACCAAGGA	0.552																																																	0													129.0	102.0	111.0					12																	6752714		2203	4300	6503	SO:0001819	synonymous_variant	84519			AB051833	CCDS8554.1	12p13.31	2009-03-12			ENSG00000111644	ENSG00000111644			17195	protein-coding gene	gene with protein product	"""proacrosin binding protein sp32"", ""cancer/testis antigen 23"""	608352				11248070	Standard	NM_032489		Approved	SP32, OY-TES-1, CT23	uc001qpu.1	Q8NEB7	OTTHUMG00000168715	ENST00000229243.2:c.1068C>T	12.37:g.6752714G>A				Silent	SNP	pfam_Proacrosin-bd	p.F356	ENST00000229243.2	37	c.1068	CCDS8554.1	12																																																																																			ACRBP	-	NULL		0.552	ACRBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACRBP	HGNC	protein_coding	OTTHUMT00000400703.1	G	NM_032489		6752714	-1	no_errors	ENST00000229243	ensembl	human	known	70_37	silent	SNP	0.838	A
ACTL6A	86	genome.wustl.edu	37	3	179294463	179294463	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:179294463C>T	ENST00000429709.2	+	7	840	c.627C>T	c.(625-627)ctC>ctT	p.L209L	ACTL6A_ENST00000467615.1_3'UTR|ACTL6A_ENST00000450518.2_Silent_p.L167L|ACTL6A_ENST00000392662.1_Silent_p.L167L	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	209					ATP-dependent chromatin remodeling (GO:0043044)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|nervous system development (GO:0007399)|neural retina development (GO:0003407)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	Ino80 complex (GO:0031011)|npBAF complex (GO:0071564)|NuA4 histone acetyltransferase complex (GO:0035267)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	chromatin binding (GO:0003682)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			GCAGAGAACTCTTCCAAGAAA	0.373																																																	0													147.0	155.0	152.0					3																	179294463		2203	4300	6503	SO:0001819	synonymous_variant	86			AK098691	CCDS3231.1, CCDS43174.1	3q26.33	2011-07-06			ENSG00000136518	ENSG00000136518		"""INO80 complex subunits"""	24124	protein-coding gene	gene with protein product	"""BAF complex 53 kDa subunit"", ""BRG1-associated factor"", ""actin-related protein 4"", ""INO80 complex subunit K"""	604958				9845365, 10380635	Standard	NM_004301		Approved	Actl6, BAF53A, Arp4, Baf53a, INO80K	uc003fjw.3	O96019	OTTHUMG00000157782	ENST00000429709.2:c.627C>T	3.37:g.179294463C>T			B3KMN1|D3DNR9|Q8TAE5|Q9BVS8|Q9H0W6	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.L209	ENST00000429709.2	37	c.627	CCDS3231.1	3																																																																																			ACTL6A	-	pfam_Actin-like,smart_Actin-like		0.373	ACTL6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL6A	HGNC	protein_coding	OTTHUMT00000349599.1	C	NM_004301		179294463	+1	no_errors	ENST00000429709	ensembl	human	known	70_37	silent	SNP	1.000	T
ADH1B	125	genome.wustl.edu	37	4	100237128	100237128	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:100237128G>T	ENST00000305046.8	-	5	561	c.494C>A	c.(493-495)tCg>tAg	p.S165*	ADH1B_ENST00000394887.3_Nonsense_Mutation_p.S125*|ADH1B_ENST00000504498.1_5'Flank			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	165					ethanol oxidation (GO:0006069)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Ethanol(DB00898)|Fomepizole(DB01213)	CTCCAGGGGCGAGGCTGCATC	0.527																																																	0													145.0	134.0	138.0					4																	100237128		2203	4300	6503	SO:0001587	stop_gained	125			AF153821	CCDS34033.1, CCDS68761.1	4q23	2008-02-05	2007-11-06		ENSG00000196616	ENSG00000196616	1.1.1.1	"""Alcohol dehydrogenases"""	250	protein-coding gene	gene with protein product		103720		ADH2		3006456	Standard	NM_000668		Approved		uc003hus.4	P00325	OTTHUMG00000161413	ENST00000305046.8:c.494C>A	4.37:g.100237128G>T	ENSP00000306606:p.Ser165*		A8MYN5|B4DRS9|B4DVC3|Q13711|Q4ZGI9|Q96KI7	Nonsense_Mutation	SNP	pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER	p.S165*	ENST00000305046.8	37	c.494	CCDS34033.1	4	.	.	.	.	.	.	.	.	.	.	G	24.1	4.496483	0.85069	.	.	ENSG00000196616	ENST00000305046;ENST00000394887;ENST00000412614	.	.	.	3.96	3.96	0.45880	.	0.301664	0.35407	N	0.003237	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-3.5549	16.0245	0.80532	0.0:0.0:1.0:0.0	.	.	.	.	X	165;125;152	.	ENSP00000306606:S165X	S	-	2	0	ADH1B	100456151	0.998000	0.40836	0.363000	0.25875	0.102000	0.19082	8.876000	0.92379	1.722000	0.51474	0.561000	0.74099	TCG	ADH1B	-	superfamily_GroES-like,smart_PKS_ER		0.527	ADH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADH1B	HGNC	protein_coding	OTTHUMT00000364853.1	G	NM_000668		100237128	-1	no_errors	ENST00000305046	ensembl	human	known	70_37	nonsense	SNP	0.989	T
AGPAT1	10554	genome.wustl.edu	37	6	32137054	32137054	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:32137054C>T	ENST00000395499.1	-	7	1430	c.851G>A	c.(850-852)tGa>tAa	p.*284*	AGPAT1_ENST00000336984.6_Silent_p.*284*|AGPAT1_ENST00000412465.2_Silent_p.*172*|AGPAT1_ENST00000395496.1_Silent_p.*284*|PPT2-EGFL8_ENST00000422437.1_Intron|AGPAT1_ENST00000490711.1_5'UTR|AGPAT1_ENST00000395497.1_Silent_p.*284*|AGPAT1_ENST00000375104.2_Silent_p.*284*|AGPAT1_ENST00000375107.3_Silent_p.*284*			Q99943	PLCA_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 1	0					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						AGCCAGGGTTCACCCACCGCC	0.607																																																	0													58.0	59.0	59.0					6																	32137054		1510	2708	4218	SO:0001819	synonymous_variant	10554			U56417	CCDS4744.1	6p21.3	2013-02-05	2013-02-05		ENSG00000204310	ENSG00000204310	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	324	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, alpha"""	603099	"""1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)"""			9461603, 9291118	Standard	NM_032741		Approved	LPAAT-alpha	uc003oae.3	Q99943	OTTHUMG00000031210	ENST00000395499.1:c.851G>A	6.37:g.32137054C>T			A2BFI5|Q5BL03	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,tigrfam_AGP_acyltrans	p.*284	ENST00000395499.1	37	c.851	CCDS4744.1	6																																																																																			AGPAT1	-	NULL		0.607	AGPAT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT1	HGNC	protein_coding	OTTHUMT00000268941.1	C	NM_006411		32137054	-1	no_errors	ENST00000336984	ensembl	human	known	70_37	silent	SNP	0.462	T
AMMECR1L	83607	genome.wustl.edu	37	2	128628868	128628868	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:128628868G>C	ENST00000272647.5	-	4	733	c.473C>G	c.(472-474)tCa>tGa	p.S158*	AMMECR1L_ENST00000393001.1_Nonsense_Mutation_p.S158*	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	158	AMMECR1. {ECO:0000255|PROSITE- ProRule:PRU00467}.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		ATTCATGGCTGAGAAGGTCCC	0.458																																																	0													66.0	66.0	66.0					2																	128628868		2203	4300	6503	SO:0001587	stop_gained	83607				CCDS2152.1	2q21	2012-11-15	2012-11-15		ENSG00000144233	ENSG00000144233			28658	protein-coding gene	gene with protein product			"""AMME chromosomal region gene 1-like"""				Standard	NM_001199140		Approved	MGC4268	uc002tpl.3	Q6DCA0	OTTHUMG00000131535	ENST00000272647.5:c.473C>G	2.37:g.128628868G>C	ENSP00000272647:p.Ser158*		B4E276	Nonsense_Mutation	SNP	pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1	p.S158*	ENST00000272647.5	37	c.473	CCDS2152.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.450642	0.98292	.	.	ENSG00000144233	ENST00000272647;ENST00000393001	.	.	.	5.4	5.4	0.78164	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-6.3052	19.5431	0.95282	0.0:0.0:1.0:0.0	.	.	.	.	X	158	.	ENSP00000272647:S158X	S	-	2	0	AMMECR1L	128345338	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.804000	0.99143	2.695000	0.91970	0.643000	0.83706	TCA	AMMECR1L	-	pfam_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1		0.458	AMMECR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMMECR1L	HGNC	protein_coding	OTTHUMT00000254392.1	G	NM_031445		128628868	-1	no_errors	ENST00000272647	ensembl	human	known	70_37	nonsense	SNP	1.000	C
APBB1	322	genome.wustl.edu	37	11	6423916	6423916	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:6423916C>T	ENST00000609360.1	-	7	1243	c.1144G>A	c.(1144-1146)Gag>Aag	p.E382K	APBB1_ENST00000299402.6_Missense_Mutation_p.E382K|APBB1_ENST00000608394.1_Missense_Mutation_p.E123K|APBB1_ENST00000389906.2_Missense_Mutation_p.E382K|APBB1_ENST00000529519.1_Intron|APBB1_ENST00000609331.1_Missense_Mutation_p.E147K|APBB1_ENST00000608645.1_Missense_Mutation_p.E123K|APBB1_ENST00000530885.1_Missense_Mutation_p.E162K|APBB1_ENST00000311051.3_Missense_Mutation_p.E382K|APBB1_ENST00000608655.1_Missense_Mutation_p.E162K|APBB1_ENST00000608704.1_Missense_Mutation_p.E123K	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	382	PID 1. {ECO:0000255|PROSITE- ProRule:PRU00148}.				apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.E382K(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		AGCTCCTCCTCGGTCATCTCT	0.572																																					GBM(147;1810 2556 5672 39622)												1	Substitution - Missense(1)	breast(1)											84.0	81.0	82.0					11																	6423916		2201	4296	6497	SO:0001583	missense	322			L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.1144G>A	11.37:g.6423916C>T	ENSP00000477213:p.Glu382Lys		A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP	p.E382K	ENST00000609360.1	37	c.1144		11	.	.	.	.	.	.	.	.	.	.	C	35	5.592168	0.96590	.	.	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906;ENST00000539758;ENST00000536523;ENST00000544288;ENST00000530885;ENST00000533407	T;T;T;T;T	0.14640	2.49;2.49;2.49;2.49;2.49	5.03	5.03	0.67393	.	0.000000	0.64402	D	0.000001	T	0.39911	0.1096	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;0.999;1.0	D;D;D;D	0.80764	0.987;0.978;0.982;0.994	T	0.18999	-1.0319	10	0.45353	T	0.12	-14.0781	16.1907	0.81987	0.0:1.0:0.0:0.0	.	231;147;162;382	B7Z1H5;F5H1C5;B7Z2Y0;O00213-2	.;.;.;.	K	382;382;382;231;123;147;162;123	ENSP00000299402:E382K;ENSP00000311912:E382K;ENSP00000374556:E382K;ENSP00000433338:E162K;ENSP00000437114:E123K	ENSP00000299402:E382K	E	-	1	0	APBB1	6380492	1.000000	0.71417	0.922000	0.36590	0.966000	0.64601	7.688000	0.84153	2.497000	0.84241	0.591000	0.81541	GAG	APBB1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.572	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	APBB1	HGNC	protein_coding	OTTHUMT00000471831.1	C	NM_001164		6423916	-1	no_errors	ENST00000389906	ensembl	human	known	70_37	missense	SNP	1.000	T
ANO3	63982	genome.wustl.edu	37	11	26681913	26681913	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:26681913G>A	ENST00000256737.3	+	27	3720	c.2868G>A	c.(2866-2868)atG>atA	p.M956I	ANO3_ENST00000531568.1_Missense_Mutation_p.M810I|ANO3_ENST00000537978.1_Missense_Mutation_p.M940I|ANO3_ENST00000525139.1_Missense_Mutation_p.M940I	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	956					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TTCAAGAAATGATGTATGAGG	0.428																																																	0													146.0	136.0	139.0					11																	26681913		2203	4299	6502	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.2868G>A	11.37:g.26681913G>A	ENSP00000256737:p.Met956Ile		B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.M956I	ENST00000256737.3	37	c.2868	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	14.53	2.564308	0.45694	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000538001;ENST00000531568	T;T;T;T	0.70399	-0.47;-0.47;-0.48;-0.36	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	T	0.73273	0.3566	L	0.29908	0.895	0.80722	D	1	D;D	0.62365	0.983;0.991	P;P	0.58130	0.833;0.833	T	0.67971	-0.5532	10	0.21540	T	0.41	.	19.717	0.96124	0.0:0.0:1.0:0.0	.	858;956	B7Z7Y6;Q9BYT9	.;ANO3_HUMAN	I	940;940;956;858;810	ENSP00000440737:M940I;ENSP00000432576:M940I;ENSP00000256737:M956I;ENSP00000432394:M810I	ENSP00000256737:M956I	M	+	3	0	ANO3	26638489	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	2.667000	0.90743	0.650000	0.86243	ATG	ANO3	-	NULL		0.428	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26681913	+1	no_errors	ENST00000256737	ensembl	human	known	70_37	missense	SNP	1.000	A
APH1A	51107	genome.wustl.edu	37	1	150240405	150240405	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:150240405G>A	ENST00000369109.3	-	2	424	c.236C>T	c.(235-237)tCt>tTt	p.S79F	APH1A_ENST00000414276.2_Intron|C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000360244.4_Missense_Mutation_p.S79F|APH1A_ENST00000461320.1_Intron	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	79					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)	p.S79C(1)		breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TAGAAGGACAGAGACAGCAGC	0.557																																																	1	Substitution - Missense(1)	ovary(1)											92.0	99.0	96.0					1																	150240405		1980	4156	6136	SO:0001583	missense	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.236C>T	1.37:g.150240405G>A	ENSP00000358105:p.Ser79Phe		B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Missense_Mutation	SNP	pfam_Aph-1	p.S79F	ENST00000369109.3	37	c.236	CCDS41390.1	1	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350289	0.82132	.	.	ENSG00000117362	ENST00000369109;ENST00000360244	T;T	0.57752	0.38;0.38	5.0	5.0	0.66597	.	0.000000	0.85682	D	0.000000	T	0.71426	0.3338	M	0.86573	2.825	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.81914	0.984;0.991;0.995	T	0.76027	-0.3109	10	0.62326	D	0.03	-7.0833	15.8372	0.78808	0.0:0.0:1.0:0.0	.	79;79;79	Q96BI3-2;Q5TB22;Q96BI3	.;.;APH1A_HUMAN	F	79	ENSP00000358105:S79F;ENSP00000353380:S79F	ENSP00000353380:S79F	S	-	2	0	APH1A	148507029	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.540000	0.98080	2.586000	0.87340	0.591000	0.81541	TCT	APH1A	-	pfam_Aph-1		0.557	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	G	NM_016022		150240405	-1	no_errors	ENST00000369109	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGAP6	395	genome.wustl.edu	37	X	11207064	11207064	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:11207064G>A	ENST00000337414.4	-	4	1733	c.861C>T	c.(859-861)gtC>gtT	p.V287V	ARHGAP6_ENST00000413512.3_Silent_p.V96V|ARHGAP6_ENST00000380732.3_Silent_p.V319V|ARHGAP6_ENST00000380736.1_Silent_p.V84V|ARHGAP6_ENST00000380718.1_Silent_p.V287V|ARHGAP6_ENST00000303025.6_Silent_p.V84V|ARHGAP6_ENST00000534860.1_Silent_p.V112V	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	287					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CATTCGCAATGACTTGGGATA	0.458																																																	0													89.0	73.0	78.0					X																	11207064		2203	4300	6503	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.861C>T	X.37:g.11207064G>A			B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.V287	ENST00000337414.4	37	c.861	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.458	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11207064	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	silent	SNP	0.988	A
ARHGAP6	395	genome.wustl.edu	37	X	11207091	11207091	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:11207091C>A	ENST00000337414.4	-	4	1706	c.834G>T	c.(832-834)caG>caT	p.Q278H	ARHGAP6_ENST00000413512.3_Missense_Mutation_p.Q87H|ARHGAP6_ENST00000380732.3_Missense_Mutation_p.Q310H|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.Q75H|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.Q278H|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.Q75H|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.Q103H	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	278					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TTCCAAATGCCTGTGGGATGA	0.438																																																	0													70.0	59.0	63.0					X																	11207091		2203	4300	6503	SO:0001583	missense	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.834G>T	X.37:g.11207091C>A	ENSP00000338967:p.Gln278His		B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q278H	ENST00000337414.4	37	c.834	CCDS14140.1	X	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657435	0.47467	.	.	ENSG00000047648	ENST00000534860;ENST00000380736;ENST00000303025;ENST00000337414;ENST00000380717;ENST00000380718;ENST00000413512;ENST00000380732	T;T;T;T;T;T;T;T	0.24350	1.88;1.86;1.86;1.86;1.87;1.88;1.93;1.94	5.51	1.82	0.25136	Rho GTPase-activating protein domain (1);	0.000000	0.51477	D	0.000097	T	0.15739	0.0379	N	0.19112	0.55	0.58432	D	0.999999	B;B;P;P;P	0.42357	0.069;0.32;0.488;0.608;0.777	B;B;B;B;B	0.39339	0.021;0.081;0.295;0.297;0.297	T	0.02893	-1.1097	10	0.59425	D	0.04	.	9.7521	0.40481	0.0:0.712:0.0:0.288	.	87;75;278;278;278	B7Z8H7;O43182-5;O43182-2;O43182;A8KAL3	.;.;.;RHG06_HUMAN;.	H	103;75;75;278;114;278;87;310	ENSP00000438135:Q103H;ENSP00000370112:Q75H;ENSP00000302312:Q75H;ENSP00000338967:Q278H;ENSP00000370093:Q114H;ENSP00000370094:Q278H;ENSP00000389394:Q87H;ENSP00000370108:Q310H	ENSP00000302312:Q75H	Q	-	3	2	ARHGAP6	11117012	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	1.912000	0.39946	-0.053000	0.13289	0.600000	0.82982	CAG	ARHGAP6	-	NULL		0.438	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	C	NM_013427		11207091	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF19	128272	genome.wustl.edu	37	1	16534513	16534513	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:16534513G>C	ENST00000270747.3	-	3	756	c.620C>G	c.(619-621)tCt>tGt	p.S207C	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	207					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCAGAGAAGAGTGCAGCCG	0.667																																																	0													35.0	39.0	38.0					1																	16534513		2203	4299	6502	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.620C>G	1.37:g.16534513G>C	ENSP00000270747:p.Ser207Cys		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.S207C	ENST00000270747.3	37	c.620	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375961	0.82682	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.53640	0.61;0.61	4.96	4.03	0.46877	.	0.279728	0.28659	N	0.014572	T	0.35189	0.0923	L	0.40543	1.245	0.28058	N	0.933095	P	0.50710	0.938	B	0.40101	0.319	T	0.39251	-0.9623	10	0.54805	T	0.06	.	8.5731	0.33581	0.1048:0.0:0.8952:0.0	.	207	Q8IW93	ARHGJ_HUMAN	C	207	ENSP00000270747:S207C;ENSP00000396001:S207C	ENSP00000270747:S207C	S	-	2	0	ARHGEF19	16407100	1.000000	0.71417	0.986000	0.45419	0.913000	0.54294	3.803000	0.55560	2.443000	0.82685	0.561000	0.74099	TCT	ARHGEF19	-	NULL		0.667	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	G	NM_153213		16534513	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	missense	SNP	0.992	C
ARHGEF19	128272	genome.wustl.edu	37	1	16534646	16534646	+	Missense_Mutation	SNP	C	C	A	rs221058	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:16534646C>A	ENST00000270747.3	-	3	623	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	163			G -> R (in dbSNP:rs221058). {ECO:0000269|PubMed:14702039}.		regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACCTGGCCAGGCTCTAGG	0.657																																																	0													56.0	61.0	59.0					1																	16534646		2203	4300	6503	SO:0001583	missense	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.487G>T	1.37:g.16534646C>A	ENSP00000270747:p.Gly163Cys		A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.G163C	ENST00000270747.3	37	c.487	CCDS170.1	1	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377929	0.42105	.	.	ENSG00000142632	ENST00000270747;ENST00000421561;ENST00000375607	T;T	0.52057	0.68;0.68	5.21	2.13	0.27403	.	1.238380	0.05817	N	0.615075	T	0.43344	0.1243	L	0.32530	0.975	0.44085	P	0.003159000000000023	D	0.53151	0.958	P	0.46718	0.525	T	0.37842	-0.9688	9	0.72032	D	0.01	.	6.6718	0.23072	0.0:0.6669:0.0:0.3331	.	163	Q8IW93	ARHGJ_HUMAN	C	163	ENSP00000270747:G163C;ENSP00000396001:G163C	ENSP00000270747:G163C	G	-	1	0	ARHGEF19	16407233	0.296000	0.24398	0.967000	0.41034	0.118000	0.20060	0.673000	0.25203	0.220000	0.20860	0.561000	0.74099	GGC	ARHGEF19	-	NULL		0.657	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	C	NM_153213		16534646	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	missense	SNP	0.549	A
ARHGEF10L	55160	genome.wustl.edu	37	1	17964493	17964493	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:17964493T>C	ENST00000361221.3	+	19	2197	c.2038T>C	c.(2038-2040)Tac>Cac	p.Y680H	ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.Y383H|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.Y675H|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.Y641H|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.Y453H|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.Y438H|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.Y641H|ARHGEF10L_ENST00000469726.1_3'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	680						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		GCACGGCACCTACCAGGTACG	0.642																																																	0													53.0	37.0	42.0					1																	17964493		2200	4299	6499	SO:0001583	missense	55160			AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2038T>C	1.37:g.17964493T>C	ENSP00000355060:p.Tyr680His		B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain	p.Y680H	ENST00000361221.3	37	c.2038	CCDS182.1	1	.	.	.	.	.	.	.	.	.	.	T	24.3	4.519620	0.85495	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;D;T;T	0.81499	-0.73;-0.52;-0.88;-0.52;-1.5;-0.95;0.4	5.35	5.35	0.76521	.	0.127554	0.53938	D	0.000042	D	0.88658	0.6496	M	0.78456	2.415	0.51233	D	0.999911	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999	D	0.87947	0.2721	10	0.35671	T	0.21	-23.1135	13.281	0.60214	0.0:0.0:0.0:1.0	.	453;438;675;383;441;636;641;680	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	H	680;641;675;641;438;453;453;383	ENSP00000355060:Y680H;ENSP00000399401:Y641H;ENSP00000394621:Y675H;ENSP00000364564:Y641H;ENSP00000364569:Y438H;ENSP00000364557:Y453H;ENSP00000167825:Y383H	ENSP00000167825:Y383H	Y	+	1	0	ARHGEF10L	17837080	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	6.884000	0.75600	2.030000	0.59900	0.460000	0.39030	TAC	ARHGEF10L	-	NULL		0.642	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	ARHGEF10L	HGNC	protein_coding	OTTHUMT00000007147.1	T	NM_018125		17964493	+1	no_errors	ENST00000361221	ensembl	human	known	70_37	missense	SNP	1.000	C
BCAR3	8412	genome.wustl.edu	37	1	94047999	94047999	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:94047999G>A	ENST00000370244.1	-	9	1833	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F	BCAR3_ENST00000260502.6_Silent_p.F515F|BCAR3_ENST00000539242.1_Silent_p.F191F|BCAR3_ENST00000370247.3_Silent_p.F424F|BCAR3_ENST00000370243.1_Silent_p.F515F|BCAR3_ENST00000466632.1_5'UTR	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	515					lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CGTTGGGCCTGAAGGAGGAGA	0.542																																																	0													122.0	115.0	117.0					1																	94047999		2203	4300	6503	SO:0001819	synonymous_variant	8412			U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.1545C>T	1.37:g.94047999G>A			D3DT43|Q5TEW3|Q6UW40|Q9BR50	Silent	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.F515	ENST00000370244.1	37	c.1545	CCDS745.1	1																																																																																			BCAR3	-	superfamily_Ras_GEF_dom		0.542	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	G			94047999	-1	no_errors	ENST00000260502	ensembl	human	known	70_37	silent	SNP	0.999	A
BPIFB4	149954	genome.wustl.edu	37	20	31673928	31673928	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr20:31673928G>C	ENST00000375483.3	+	5	884	c.884G>C	c.(883-885)tGt>tCt	p.C295S		NM_182519.2	NP_872325.2	P59827	BPIB4_HUMAN	BPI fold containing family B, member 4	295						cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)										ATTGAGCGATGTGACACCCTC	0.577																																																	0													94.0	78.0	83.0					20																	31673928		2203	4300	6503	SO:0001583	missense	149954			AF549190	CCDS13213.2	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000186191	ENSG00000186191		"""BPI fold containing"""	16179	protein-coding gene	gene with protein product		615718	"""chromosome 20 open reading frame 186"""	C20orf186		11971875, 21787333	Standard	NM_182519		Approved	dJ726C3.5, LPLUNC4	uc010zue.2	P59827	OTTHUMG00000032235	ENST00000375483.3:c.884G>C	20.37:g.31673928G>C	ENSP00000364632:p.Cys295Ser		Q5TDX6	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.C295S	ENST00000375483.3	37	c.884	CCDS13213.2	20	.	.	.	.	.	.	.	.	.	.	G	18.31	3.594879	0.66219	.	.	ENSG00000186191	ENST00000375483	T	0.56776	0.44	3.94	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.72894	2.215	0.45272	D	0.998273	D	0.89917	1.0	D	0.87578	0.998	T	0.72520	-0.4268	10	0.87932	D	0	-9.2527	11.3408	0.49531	0.0:0.0:1.0:0.0	.	295	P59827	BPIB4_HUMAN	S	295	ENSP00000364632:C295S	ENSP00000364632:C295S	C	+	2	0	BPIFB4	31137589	1.000000	0.71417	0.984000	0.44739	0.990000	0.78478	5.349000	0.66010	2.028000	0.59812	0.491000	0.48974	TGT	BPIFB4	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.577	BPIFB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BPIFB4	HGNC	protein_coding	OTTHUMT00000078655.5	G	NM_182519		31673928	+1	no_errors	ENST00000375483	ensembl	human	known	70_37	missense	SNP	0.998	C
BZRAP1	9256	genome.wustl.edu	37	17	56382430	56382430	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:56382430C>T	ENST00000343736.4	-	30	5699	c.5536G>A	c.(5536-5538)Gag>Aag	p.E1846K	BZRAP1_ENST00000268893.6_Missense_Mutation_p.E1786K|BZRAP1_ENST00000355701.3_Missense_Mutation_p.E1846K			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	1846						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACCTGACTCTCAGCCTGGGGT	0.647																																																	0													41.0	46.0	44.0					17																	56382430		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.5536G>A	17.37:g.56382430C>T	ENSP00000345824:p.Glu1846Lys		O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.E1846K	ENST00000343736.4	37	c.5536	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219963	0.58560	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04654	3.66;3.58;3.59	5.42	4.45	0.53987	.	0.645746	0.16081	N	0.230483	T	0.11836	0.0288	L	0.34521	1.04	0.20074	N	0.999936	B;D;D;D	0.76494	0.281;0.999;0.997;0.999	B;D;D;D	0.80764	0.083;0.994;0.98;0.985	T	0.09930	-1.0652	10	0.49607	T	0.09	.	10.6242	0.45497	0.0:0.9108:0.0:0.0892	.	1837;1786;1846;1786	B7ZVZ7;O95153-2;O95153;A7E2C5	.;.;RIMB1_HUMAN;.	K	1846;1846;1786	ENSP00000347929:E1846K;ENSP00000345824:E1846K;ENSP00000268893:E1786K	ENSP00000268893:E1786K	E	-	1	0	BZRAP1	53737429	0.988000	0.35896	0.628000	0.29241	0.579000	0.36224	2.914000	0.48797	2.575000	0.86900	0.449000	0.29647	GAG	BZRAP1	-	NULL		0.647	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	C	NM_004758		56382430	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	0.533	T
CFAP54	144535	genome.wustl.edu	37	12	97087524	97087524	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:97087524C>G	ENST00000524981.4	+	45	6312	c.6289C>G	c.(6289-6291)Caa>Gaa	p.Q2097E				Q96N23	CL055_HUMAN		0																	TGCATTGTATCAATATTTTGT	0.294																																																	0													127.0	127.0	127.0					12																	97087524		2202	4295	6497	SO:0001583	missense	144535																														ENST00000524981.4:c.6289C>G	12.37:g.97087524C>G	ENSP00000431759:p.Gln2097Glu			Missense_Mutation	SNP	NULL	p.Q522E	ENST00000524981.4	37	c.1564		12	.	.	.	.	.	.	.	.	.	.	C	12.31	1.898311	0.33535	.	.	ENSG00000188596	ENST00000524981;ENST00000342887	.	.	.	6.08	6.08	0.98989	.	0.156689	0.46442	D	0.000281	T	0.79656	0.4483	.	.	.	0.41124	D	0.985832	D	0.69078	0.997	P	0.61800	0.894	T	0.80647	-0.1289	8	0.87932	D	0	-18.5554	20.6634	0.99662	0.0:1.0:0.0:0.0	.	522	Q6ZTY8	CL063_HUMAN	E	2097;522	.	ENSP00000345466:Q522E	Q	+	1	0	C12orf63	95611655	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	3.552000	0.53705	2.894000	0.99253	0.655000	0.94253	CAA	C12orf55	-	NULL		0.294	C12orf55-003	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf55	HGNC	protein_coding	OTTHUMT00000395046.4	C			97087524	+1	no_errors	ENST00000342887	ensembl	human	known	70_37	missense	SNP	1.000	G
C15orf41	84529	genome.wustl.edu	37	15	37002110	37002110	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:37002110G>A	ENST00000566621.1	+	10	914	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	C15orf41_ENST00000567389.1_Missense_Mutation_p.E124K|C15orf41_ENST00000437989.2_Missense_Mutation_p.E222K|C15orf41_ENST00000562489.1_Missense_Mutation_p.E46K|C15orf41_ENST00000569302.1_Missense_Mutation_p.E228K|C15orf41_ENST00000338183.4_Missense_Mutation_p.E124K|C15orf41_ENST00000565792.1_3'UTR|C15orf41_ENST00000562877.1_Missense_Mutation_p.E124K	NM_001130010.1	NP_001123482.1	Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	222										kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		ATTTGGTGATGAATGTAGCCA	0.418																																																	0													137.0	130.0	132.0					15																	37002110		1892	4108	6000	SO:0001583	missense	84529			BC006254	CCDS45215.1, CCDS45216.1	15q14	2012-05-31			ENSG00000186073	ENSG00000186073			26929	protein-coding gene	gene with protein product		615626					Standard	XM_005254719		Approved	HH114, MGC11326, FLJ22851	uc001zje.4	Q9Y2V0	OTTHUMG00000172659	ENST00000566621.1:c.664G>A	15.37:g.37002110G>A	ENSP00000455397:p.Glu222Lys		B2RD87	Missense_Mutation	SNP	NULL	p.E222K	ENST00000566621.1	37	c.664	CCDS45215.1	15	.	.	.	.	.	.	.	.	.	.	G	23.7	4.452631	0.84209	.	.	ENSG00000186073	ENST00000437989;ENST00000338183	T	0.45668	0.89	6.0	6.0	0.97389	.	0.045400	0.85682	D	0.000000	T	0.50633	0.1627	M	0.62723	1.935	0.80722	D	1	P	0.46142	0.873	P	0.49047	0.599	T	0.36529	-0.9744	10	0.08381	T	0.77	-16.7997	20.4987	0.99207	0.0:0.0:1.0:0.0	.	222	Q9Y2V0	CO041_HUMAN	K	222;124	ENSP00000401362:E222K	ENSP00000342433:E124K	E	+	1	0	C15orf41	34789402	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.894000	0.87336	2.855000	0.98099	0.650000	0.86243	GAA	C15orf41	-	NULL		0.418	C15orf41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf41	HGNC	protein_coding	OTTHUMT00000419741.1	G	NM_032499		37002110	+1	no_errors	ENST00000437989	ensembl	human	known	70_37	missense	SNP	1.000	A
MROH9	80133	genome.wustl.edu	37	1	170967418	170967418	+	Silent	SNP	G	G	A	rs201571110		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:170967418G>A	ENST00000367758.3	+	15	1698	c.1599G>A	c.(1597-1599)gtG>gtA	p.V533V	MROH9_ENST00000367759.4_Intron	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	533																	TCACTGAAGTGAGTTTTGTAG	0.398																																																	0													185.0	165.0	171.0					1																	170967418		1845	4084	5929	SO:0001819	synonymous_variant	80133			AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1599G>A	1.37:g.170967418G>A			A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	superfamily_ARM-type_fold	p.V533	ENST00000367758.3	37	c.1599	CCDS41436.1	1																																																																																			C1orf129	-	NULL		0.398	MROH9-001	KNOWN	basic|CCDS	protein_coding	C1orf129	HGNC	protein_coding	OTTHUMT00000099327.1	G	NM_025063		170967418	+1	no_errors	ENST00000367758	ensembl	human	known	70_37	silent	SNP	0.996	A
C3orf79	152118	genome.wustl.edu	37	3	153202446	153202446	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:153202446C>T	ENST00000446603.2	+	1	163	c.101C>T	c.(100-102)tCa>tTa	p.S34L	RP11-23D24.2_ENST00000493214.2_RNA	NM_001101337.1	NP_001094807.1	P0CE67	CC079_HUMAN	chromosome 3 open reading frame 79	34										endometrium(1)|large_intestine(3)	4						CCTGAGCTTTCATCCAAGAGA	0.418																																																	0													284.0	269.0	274.0					3																	153202446		1918	4139	6057	SO:0001583	missense	152118			AF086445	CCDS46937.1	3q25.2	2009-09-30			ENSG00000237787	ENSG00000237787			37259	protein-coding gene	gene with protein product							Standard	NM_001101337		Approved		uc003ezt.3	P0CE67	OTTHUMG00000159629	ENST00000446603.2:c.101C>T	3.37:g.153202446C>T	ENSP00000389475:p.Ser34Leu			Missense_Mutation	SNP	NULL	p.S34L	ENST00000446603.2	37	c.101	CCDS46937.1	3	.	.	.	.	.	.	.	.	.	.	C	12.13	1.846535	0.32606	.	.	ENSG00000237787	ENST00000446603	.	.	.	3.66	2.78	0.32641	.	.	.	.	.	T	0.17195	0.0413	N	0.08118	0	0.23396	N	0.997763	P	0.40107	0.703	B	0.40864	0.342	T	0.08576	-1.0715	8	0.87932	D	0	.	6.9513	0.24546	0.0:0.8762:0.0:0.1238	.	34	P0CE67	CC079_HUMAN	L	34	.	ENSP00000389475:S34L	S	+	2	0	C3orf79	154685136	0.070000	0.21116	0.943000	0.38184	0.777000	0.43975	0.205000	0.17356	1.117000	0.41842	0.655000	0.94253	TCA	C3orf79	-	NULL		0.418	C3orf79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf79	HGNC	protein_coding	OTTHUMT00000356570.1	C	NM_001101337		153202446	+1	no_errors	ENST00000446603	ensembl	human	known	70_37	missense	SNP	0.960	T
CACNB4	785	genome.wustl.edu	37	2	152695761	152695761	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:152695761G>A	ENST00000539935.1	-	14	1502	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*	CACNB4_ENST00000534999.1_Nonsense_Mutation_p.Q445*|CACNB4_ENST00000397327.2_Nonsense_Mutation_p.Q432*|CACNB4_ENST00000360283.6_Nonsense_Mutation_p.Q446*|CACNB4_ENST00000427385.1_Nonsense_Mutation_p.Q461*|CACNB4_ENST00000201943.5_Nonsense_Mutation_p.Q417*	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	479					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	CGGCTATGCTGAGAACTGGAA	0.458																																																	0													117.0	116.0	116.0					2																	152695761		1969	4168	6137	SO:0001587	stop_gained	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1435C>T	2.37:g.152695761G>A	ENSP00000438949:p.Gln479*		A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Nonsense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.Q480*	ENST00000539935.1	37	c.1438	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.384049	0.95967	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	.	.	.	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-13.3563	18.8721	0.92319	0.0:0.0:1.0:0.0	.	.	.	.	X	479;446;374;474;445;432;461;417;480	.	ENSP00000201943:Q417X	Q	-	1	0	CACNB4	152404007	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.382000	0.97209	2.457000	0.83068	0.460000	0.39030	CAG	CACNB4	-	NULL		0.458	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152695761	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CALCOCO1	57658	genome.wustl.edu	37	12	54109651	54109651	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:54109651C>T	ENST00000550804.1	-	9	1246	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	CALCOCO1_ENST00000548263.1_Missense_Mutation_p.E396K|CALCOCO1_ENST00000262059.4_Missense_Mutation_p.E396K|CALCOCO1_ENST00000430117.2_Missense_Mutation_p.E311K			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	396					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)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AAACCGAGCTCAGCCAGCCTG	0.607																																																	0													50.0	46.0	48.0					12																	54109651		2203	4300	6503	SO:0001583	missense	57658			AL136895	CCDS8864.1, CCDS44908.1	12q13.13	2014-01-02			ENSG00000012822	ENSG00000012822			29306	protein-coding gene	gene with protein product	"""coiled-coil leucine zipper coactivator 1"", ""inorganic pyrophosphatase activator"""					10819331, 11230166	Standard	NM_020898		Approved	KIAA1536, calphoglin, Cocoa	uc001sef.3	Q9P1Z2	OTTHUMG00000170095	ENST00000550804.1:c.1186G>A	12.37:g.54109651C>T	ENSP00000449960:p.Glu396Lys		B3KVA8|Q6FI59|Q71RC3|Q86WF8|Q96JU3|Q9H090	Missense_Mutation	SNP	pfam_CoCoA	p.E396K	ENST00000550804.1	37	c.1186	CCDS8864.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.295993	0.95574	.	.	ENSG00000012822	ENST00000342760;ENST00000430117;ENST00000262059;ENST00000413257;ENST00000548263;ENST00000550804;ENST00000549935	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	4.91	4.91	0.64330	.	0.000000	0.43579	D	0.000557	T	0.27697	0.0681	L	0.57536	1.79	0.49483	D	0.999799	D;P;D;D;P;D	0.64830	0.994;0.945;0.972;0.982;0.945;0.978	P;P;P;P;P;P	0.62298	0.9;0.767;0.737;0.78;0.767;0.829	T	0.00237	-1.1890	10	0.48119	T	0.1	-24.6973	17.4107	0.87485	0.0:1.0:0.0:0.0	.	389;311;396;396;311;396	B4DG60;E9PAU0;Q9P1Z2-3;Q9P1Z2-2;E7EPK7;Q9P1Z2	.;.;.;.;.;CACO1_HUMAN	K	73;311;396;334;396;396;389	ENSP00000397189:E311K;ENSP00000262059:E396K;ENSP00000447647:E396K;ENSP00000449960:E396K	ENSP00000262059:E396K	E	-	1	0	CALCOCO1	52395918	1.000000	0.71417	0.991000	0.47740	0.994000	0.84299	5.583000	0.67484	2.713000	0.92767	0.655000	0.94253	GAG	CALCOCO1	-	pfam_CoCoA		0.607	CALCOCO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CALCOCO1	HGNC	protein_coding	OTTHUMT00000407233.2	C	NM_020898		54109651	-1	no_errors	ENST00000550804	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC120	90060	genome.wustl.edu	37	X	48925127	48925127	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:48925127G>A	ENST00000376396.3	+	10	1591	c.1372G>A	c.(1372-1374)Ggt>Agt	p.G458S	CCDC120_ENST00000603986.1_Missense_Mutation_p.G493S|CCDC120_ENST00000597275.1_Missense_Mutation_p.G458S|CCDC120_ENST00000422185.2_Missense_Mutation_p.G458S|CCDC120_ENST00000496529.2_Missense_Mutation_p.G458S|CCDC120_ENST00000536628.2_Missense_Mutation_p.G446S	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	458	Pro-rich.									breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCGCAGTGGCGGTGGAACAGG	0.706																																																	0													17.0	20.0	19.0					X																	48925127		2198	4287	6485	SO:0001583	missense	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1372G>A	X.37:g.48925127G>A	ENSP00000365577:p.Gly458Ser		B4DFC1|B4DTU2|F5GZU4	Missense_Mutation	SNP	pfam_DUF3338	p.G458S	ENST00000376396.3	37	c.1372	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934019	0.18206	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	4.28	1.53	0.23141	.	0.576480	0.17861	N	0.159538	T	0.34803	0.0910	N	0.22421	0.69	0.09310	N	1	D;P;B;P	0.89917	1.0;0.663;0.418;0.663	D;B;B;B	0.76071	0.987;0.082;0.01;0.082	T	0.23119	-1.0197	9	0.09843	T	0.71	-20.0537	5.903	0.18978	0.3581:0.0:0.6419:0.0	.	446;493;446;458	B4DTU2;B4DFC1;B4DF24;Q96HB5	.;.;.;CC120_HUMAN	S	458;458;446	.	ENSP00000365577:G458S	G	+	1	0	CCDC120	48812071	0.000000	0.05858	0.000000	0.03702	0.035000	0.12851	0.158000	0.16422	0.076000	0.16826	-0.422000	0.05995	GGT	CCDC120	-	NULL		0.706	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	G	NM_033626		48925127	+1	no_errors	ENST00000422185	ensembl	human	known	70_37	missense	SNP	0.000	A
CCDC14	64770	genome.wustl.edu	37	3	123634465	123634465	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:123634465G>A	ENST00000488653.2	-	13	2113	c.2023C>T	c.(2023-2025)Cat>Tat	p.H675Y	CCDC14_ENST00000489746.1_Missense_Mutation_p.H475Y|CCDC14_ENST00000310351.4_Missense_Mutation_p.H515Y|CCDC14_ENST00000433542.2_Missense_Mutation_p.H634Y|CCDC14_ENST00000485727.1_Missense_Mutation_p.H475Y|CCDC14_ENST00000483247.1_Intron			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	675					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TGTTTATCATGAATGTTCAAG	0.408																																																	0													108.0	114.0	112.0					3																	123634465		2203	4300	6503	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.2023C>T	3.37:g.123634465G>A	ENSP00000420180:p.His675Tyr		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.H675Y	ENST00000488653.2	37	c.2023		3	.	.	.	.	.	.	.	.	.	.	G	5.289	0.238808	0.10023	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697	T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26	5.32	1.69	0.24217	.	0.585592	0.17372	N	0.176654	T	0.11537	0.0281	N	0.03016	-0.435	0.25095	N	0.990828	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.06405	0.001;0.001;0.002	T	0.34725	-0.9817	10	0.02654	T	1	.	7.025	0.24934	0.6453:0.0:0.3547:0.0	.	675;634;516	Q49A88;Q49A88-6;Q49A88-5	CCD14_HUMAN;.;.	Y	675;515;475;475;634;656	ENSP00000420180:H675Y;ENSP00000312031:H515Y;ENSP00000418002:H475Y;ENSP00000418403:H475Y;ENSP00000395706:H634Y;ENSP00000386866:H656Y	ENSP00000312031:H515Y	H	-	1	0	CCDC14	125117155	0.988000	0.35896	0.985000	0.45067	0.832000	0.47134	0.331000	0.19733	0.478000	0.27488	-0.140000	0.14226	CAT	CCDC14	-	NULL		0.408	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		G	NM_022757		123634465	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.934	A
CD97	976	genome.wustl.edu	37	19	14516740	14516740	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:14516740G>A	ENST00000242786.5	+	14	1890	c.1810G>A	c.(1810-1812)Gaa>Aaa	p.E604K	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Missense_Mutation_p.E511K|CD97_ENST00000357355.3_Missense_Mutation_p.E555K	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	604					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCGAGAACGAAGGCGGCCA	0.697																																																	0													45.0	37.0	40.0					19																	14516740		2203	4300	6503	SO:0001583	missense	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1810G>A	19.37:g.14516740G>A	ENSP00000242786:p.Glu604Lys		A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.E604K	ENST00000242786.5	37	c.1810	CCDS32929.1	19	.	.	.	.	.	.	.	.	.	.	G	6.453	0.451647	0.12223	.	.	ENSG00000123146	ENST00000242786;ENST00000357355;ENST00000358600;ENST00000393059	T;T;T	0.43688	0.94;0.94;0.94	4.73	-8.31	0.01001	GPCR, family 2-like (1);	1.814060	0.03570	N	0.228518	T	0.27027	0.0662	N	0.25144	0.715	0.09310	N	1	B;B;B	0.30937	0.103;0.17;0.301	B;B;B	0.24006	0.025;0.025;0.05	T	0.32295	-0.9912	10	0.49607	T	0.09	.	14.0764	0.64893	0.149:0.7033:0.1476:0.0	.	511;555;604	P48960-2;P48960-3;P48960	.;.;CD97_HUMAN	K	604;555;511;554	ENSP00000242786:E604K;ENSP00000349918:E555K;ENSP00000351413:E511K	ENSP00000242786:E604K	E	+	1	0	CD97	14377740	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	0.618000	0.24373	-0.771000	0.04608	-0.314000	0.08810	GAA	CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_CD97		0.697	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	G	NM_078481		14516740	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	missense	SNP	0.000	A
CDH11	1009	genome.wustl.edu	37	16	64984722	64984722	+	Silent	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:64984722G>T	ENST00000268603.4	-	12	2457	c.1842C>A	c.(1840-1842)ggC>ggA	p.G614G	CDH11_ENST00000394156.3_Silent_p.G614G|CDH11_ENST00000566827.1_Silent_p.G488G	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	614					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTCAGGCCGGCGTTCA	0.627			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																														Dom	yes		16	16q22.1	1009	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""		M	0													84.0	64.0	71.0					16																	64984722		2203	4300	6503	SO:0001819	synonymous_variant	1009			D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1842C>A	16.37:g.64984722G>T			A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G614	ENST00000268603.4	37	c.1842	CCDS10803.1	16																																																																																			CDH11	-	NULL		0.627	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH11	HGNC	protein_coding	OTTHUMT00000268755.1	G	NM_033664		64984722	-1	no_errors	ENST00000268603	ensembl	human	known	70_37	silent	SNP	0.705	T
CDH22	64405	genome.wustl.edu	37	20	44879767	44879767	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr20:44879767C>T	ENST00000372262.3	-	1	567	c.167G>A	c.(166-168)gGa>gAa	p.G56E	CDH22_ENST00000537909.1_Missense_Mutation_p.G56E	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	56					brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				GCGGCCGGCTCCCAGCGCGCC	0.721																																																	0													15.0	18.0	17.0					20																	44879767		2169	4234	6403	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.167G>A	20.37:g.44879767C>T	ENSP00000361336:p.Gly56Glu		B9EGK7|O43205	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,superfamily_MFS_dom_general_subst_transpt,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.G56E	ENST00000372262.3	37	c.167	CCDS13395.1	20	.	.	.	.	.	.	.	.	.	.	c	10.27	1.304992	0.23736	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.58210	0.35;0.35	3.29	2.25	0.28309	.	0.427455	0.20971	U	0.082381	T	0.25865	0.0630	N	0.08118	0	0.09310	N	1	P	0.44877	0.845	B	0.37346	0.247	T	0.09250	-1.0683	10	0.30078	T	0.28	.	8.335	0.32208	0.0:0.6206:0.3794:0.0	.	56	Q9UJ99	CAD22_HUMAN	E	56	ENSP00000361336:G56E;ENSP00000437790:G56E	ENSP00000361336:G56E	G	-	2	0	CDH22	44313174	0.032000	0.19561	0.035000	0.18076	0.797000	0.45037	0.701000	0.25616	1.679000	0.50963	0.187000	0.17357	GGA	CDH22	-	NULL		0.721	CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH22	HGNC	protein_coding	OTTHUMT00000080491.1	C	NM_021248		44879767	-1	no_errors	ENST00000372262	ensembl	human	known	70_37	missense	SNP	0.001	T
CDH23	64072	genome.wustl.edu	37	10	73500672	73500672	+	Missense_Mutation	SNP	G	G	A	rs201533282	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:73500672G>A	ENST00000224721.6	+	36	4602	c.4597G>A	c.(4597-4599)Gag>Aag	p.E1533K		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1528	Cadherin 15. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCCAGTCATCGAGAGCCCCTT	0.587													G|||	2	0.000399361	0.0	0.0	5008	,	,		18011	0.0		0.002	False		,,,				2504	0.0																0								G	LYS/GLU	0,4074		0,0,2037	83.0	88.0	86.0		4582	4.9	1.0	10	dbSNP_134	86	2,8376		0,2,4187	yes	missense	CDH23	NM_022124.5	56	0,2,6224	AA,AG,GG		0.0239,0.0,0.0161	possibly-damaging	1528/3355	73500672	2,12450	2037	4189	6226	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.4597G>A	10.37:g.73500672G>A	ENSP00000224721:p.Glu1533Lys		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E1531K	ENST00000224721.6	37	c.4591		10	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713318	0.68730	0.0	2.39E-4	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721;ENST00000398792	.	.	.	4.9	4.9	0.64082	Cadherin (1);Cadherin-like (1);	0.227974	0.36066	N	0.002816	T	0.45617	0.1351	L	0.48218	1.51	0.80722	D	1	B;P	0.39601	0.222;0.68	B;B	0.28139	0.053;0.086	T	0.47262	-0.9131	9	0.11182	T	0.66	.	18.4524	0.90709	0.0:0.0:1.0:0.0	.	348;1528	E7ERT0;Q9H251	.;CAD23_HUMAN	K	1533;1528;1531;348	.	ENSP00000224721:E1533K	E	+	1	0	CDH23	73170678	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.317000	0.65822	2.425000	0.82216	0.591000	0.81541	GAG	CDH23	-	superfamily_Cadherin-like		0.587	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	G	NM_052836		73500672	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	A
CDR1	1038	genome.wustl.edu	37	X	139866366	139866366	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:139866366C>A	ENST00000370532.2	-	1	357	c.166G>T	c.(166-168)Gat>Tat	p.D56Y		NM_004065.2	NP_004056.2	P51861	CDR1_HUMAN	cerebellar degeneration-related protein 1, 34kDa	56	23 X 6 AA approximate repeats.									breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				TCCAGCAAATCCACGTCTTCC	0.443																																																	0													119.0	111.0	114.0					X																	139866366		2203	4300	6503	SO:0001583	missense	1038				CCDS14670.1	Xq27.1	2013-06-13	2002-08-29		ENSG00000184258	ENSG00000184258			1798	protein-coding gene	gene with protein product	"""Cerebellar degeneration-related protein-1 (34kD)"""	302650	"""cerebellar degeneration-related protein (34kD)"""	CDR		2326268	Standard	NM_004065		Approved	CDR62A, CDR34	uc004fbg.1	P51861	OTTHUMG00000137398	ENST00000370532.2:c.166G>T	X.37:g.139866366C>A	ENSP00000359563:p.Asp56Tyr		Q5JXH6	Missense_Mutation	SNP	NULL	p.D56Y	ENST00000370532.2	37	c.166	CCDS14670.1	X	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149797	0.37923	.	.	ENSG00000184258	ENST00000370532	T	0.34667	1.35	4.7	0.995	0.19838	.	.	.	.	.	T	0.31167	0.0788	L	0.27053	0.805	0.09310	N	1	D	0.60160	0.987	P	0.52386	0.697	T	0.13335	-1.0513	8	.	.	.	.	5.8907	0.18911	0.0:0.6277:0.1464:0.2259	.	56	P51861	CDR1_HUMAN	Y	56	ENSP00000359563:D56Y	.	D	-	1	0	CDR1	139694032	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.223000	0.09177	-0.063000	0.13065	-0.337000	0.08149	GAT	CDR1	-	NULL		0.443	CDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDR1	HGNC	protein_coding	OTTHUMT00000058583.1	C	NM_004065		139866366	-1	no_errors	ENST00000370532	ensembl	human	known	70_37	missense	SNP	0.002	A
CELF4	56853	genome.wustl.edu	37	18	34855193	34855193	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:34855193G>A	ENST00000591282.1	-	4	461	c.462C>T	c.(460-462)ctC>ctT	p.L154L	CELF4_ENST00000361795.5_Silent_p.L153L|RP11-797E24.3_ENST00000588766.1_RNA|CELF4_ENST00000334919.5_Silent_p.L144L|CELF4_ENST00000601019.1_Silent_p.L153L|CELF4_ENST00000588597.1_Silent_p.L143L|CELF4_ENST00000603232.1_Silent_p.L154L|CELF4_ENST00000412753.1_Silent_p.L154L|RP11-797E24.3_ENST00000586610.1_RNA|CELF4_ENST00000420428.2_Silent_p.L154L|CELF4_ENST00000591287.1_Silent_p.L153L			Q9BZC1	CELF4_HUMAN	CUGBP, Elav-like family member 4	154	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.|Sufficient for RNA-binding and MSE- dependent splicing activity.				alternative mRNA splicing, via spliceosome (GO:0000380)|embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA splice site selection (GO:0006376)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of translation (GO:0017148)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCCCACGAAGAGTTTTCTAT	0.622																																																	0													53.0	56.0	55.0					18																	34855193		2203	4300	6503	SO:0001819	synonymous_variant	56853			AF248651	CCDS32818.1, CCDS45857.1, CCDS45858.1	18q12	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	14015	protein-coding gene	gene with protein product		612679	"""Bruno (Drosophila) -like 4, RNA binding protein"", ""bruno-like 4, RNA binding protein (Drosophila)"""	BRUNOL4		10893231	Standard	NM_020180		Approved		uc002lae.2	Q9BZC1		ENST00000591282.1:c.462C>T	18.37:g.34855193G>A			Q59EN7|Q86XB9|Q8N2M6|Q9BQ96|Q9NR84|Q9NR85	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.L154	ENST00000591282.1	37	c.462	CCDS32818.1	18																																																																																			CELF4	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.622	CELF4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CELF4	HGNC	protein_coding	OTTHUMT00000440892.1	G	NM_020180		34855193	-1	no_errors	ENST00000591282	ensembl	human	known	70_37	silent	SNP	1.000	A
CHST3	9469	genome.wustl.edu	37	10	73767018	73767018	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:73767018C>T	ENST00000373115.4	+	3	666	c.229C>T	c.(229-231)Ctc>Ttc	p.L77F		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	77					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)|T cell homeostasis (GO:0043029)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin 6-sulfotransferase activity (GO:0008459)|proteoglycan sulfotransferase activity (GO:0050698)|sulfotransferase activity (GO:0008146)			endometrium(1)|lung(5)	6						GAACGCATCTCTCTTGTCCCT	0.592																																																	0													90.0	82.0	85.0					10																	73767018		2203	4300	6503	SO:0001583	missense	9469			AB017915	CCDS7312.1	10q22.1	2007-03-14			ENSG00000122863	ENSG00000122863		"""Sulfotransferases, membrane-bound"""	1971	protein-coding gene	gene with protein product		603799				9883891, 9714738	Standard	NM_004273		Approved	C6ST, C6ST1	uc001jsn.3	Q7LGC8	OTTHUMG00000018431	ENST00000373115.4:c.229C>T	10.37:g.73767018C>T	ENSP00000362207:p.Leu77Phe		O75099|Q52M30	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase	p.L77F	ENST00000373115.4	37	c.229	CCDS7312.1	10	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831417	0.50845	.	.	ENSG00000122863	ENST00000373115	D	0.97430	-4.38	5.58	5.58	0.84498	.	0.183014	0.38548	N	0.001653	D	0.95674	0.8593	L	0.55481	1.735	0.46185	D	0.998915	B	0.26147	0.143	B	0.23275	0.045	D	0.93578	0.6910	10	0.66056	D	0.02	-41.5735	18.5479	0.91054	0.0:1.0:0.0:0.0	.	77	Q7LGC8	CHST3_HUMAN	F	77	ENSP00000362207:L77F	ENSP00000362207:L77F	L	+	1	0	CHST3	73437024	0.996000	0.38824	0.949000	0.38748	0.451000	0.32288	3.710000	0.54860	2.641000	0.89580	0.561000	0.74099	CTC	CHST3	-	pirsf_Carbohydrate_sulfotransferase		0.592	CHST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST3	HGNC	protein_coding	OTTHUMT00000048563.1	C	NM_004273		73767018	+1	no_errors	ENST00000373115	ensembl	human	known	70_37	missense	SNP	1.000	T
CLMN	79789	genome.wustl.edu	37	14	95688036	95688036	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:95688036C>G	ENST00000298912.4	-	4	429	c.316G>C	c.(316-318)Gat>Cat	p.D106H		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	106	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				negative regulation of cell proliferation (GO:0008285)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ACATTGCTATCTTCCAAAAAC	0.408																																																	0													119.0	108.0	112.0					14																	95688036		2203	4300	6503	SO:0001583	missense	79789			AB033014	CCDS9933.1	14q32.13	2012-10-02			ENSG00000165959	ENSG00000165959			19972	protein-coding gene	gene with protein product		611121				11386753	Standard	NM_024734		Approved	FLJ12383, KIAA1188, KIAA0500	uc001yef.2	Q96JQ2	OTTHUMG00000171629	ENST00000298912.4:c.316G>C	14.37:g.95688036C>G	ENSP00000298912:p.Asp106His		B2RAR7|Q9H713|Q9HA23|Q9HA57|Q9UFP4|Q9ULN2	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.D106H	ENST00000298912.4	37	c.316	CCDS9933.1	14	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724110	0.89298	.	.	ENSG00000165959	ENST00000298912;ENST00000555336;ENST00000555615	D;D;D	0.95238	-3.65;-3.65;-3.65	5.19	5.19	0.71726	Calponin homology domain (5);	0.000000	0.42964	D	0.000630	D	0.95623	0.8577	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.96364	0.9268	10	0.87932	D	0	.	19.1127	0.93323	0.0:1.0:0.0:0.0	.	106	Q96JQ2	CLMN_HUMAN	H	106;38;38	ENSP00000298912:D106H;ENSP00000451705:D38H;ENSP00000452525:D38H	ENSP00000298912:D106H	D	-	1	0	CLMN	94757789	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.051000	0.76627	2.583000	0.87209	0.561000	0.74099	GAT	CLMN	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.408	CLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLMN	HGNC	protein_coding	OTTHUMT00000414518.2	C			95688036	-1	no_errors	ENST00000298912	ensembl	human	known	70_37	missense	SNP	1.000	G
COASY	80347	genome.wustl.edu	37	17	40714701	40714701	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:40714701C>G	ENST00000393818.2	+	1	517	c.61C>G	c.(61-63)Cgc>Ggc	p.R21G	COASY_ENST00000449624.1_Intron|COASY_ENST00000590958.1_Missense_Mutation_p.R50G|COASY_ENST00000420359.1_Missense_Mutation_p.R21G|COASY_ENST00000421097.2_Missense_Mutation_p.R21G|RP11-400F19.8_ENST00000585572.1_RNA	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	21					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CCTAGCCCCTCGCCTGGCCTC	0.692																																																	0													32.0	36.0	35.0					17																	40714701		2203	4294	6497	SO:0001583	missense	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.61C>G	17.37:g.40714701C>G	ENSP00000377406:p.Arg21Gly		B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Missense_Mutation	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.R50G	ENST00000393818.2	37	c.148	CCDS11429.1	17	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835113	0.71373	.	.	ENSG00000068120	ENST00000421097;ENST00000420359;ENST00000393818;ENST00000426807	T;T	0.33654	1.4;1.4	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.47395	0.1443	L	0.32530	0.975	0.80722	D	1	D;P	0.89917	1.0;0.703	D;B	0.70487	0.969;0.302	T	0.44802	-0.9304	10	0.87932	D	0	-20.1808	12.3205	0.54981	0.169:0.831:0.0:0.0	.	50;21	Q13057-2;Q13057	.;COASY_HUMAN	G	50;21;21;21	ENSP00000413338:R21G;ENSP00000377406:R21G	ENSP00000377406:R21G	R	+	1	0	COASY	37968227	0.999000	0.42202	0.998000	0.56505	0.846000	0.48090	4.179000	0.58290	2.701000	0.92244	0.462000	0.41574	CGC	COASY	-	NULL		0.692	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40714701	+1	no_errors	ENST00000590958	ensembl	human	known	70_37	missense	SNP	0.999	G
COL4A1	1282	genome.wustl.edu	37	13	110839653	110839653	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:110839653C>T	ENST00000375820.4	-	25	1681	c.1560G>A	c.(1558-1560)ctG>ctA	p.L520L		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	520	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCTGGCCTATCAGCCCTGGTG	0.547																																																	0													47.0	47.0	47.0					13																	110839653		2203	4300	6503	SO:0001819	synonymous_variant	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.1560G>A	13.37:g.110839653C>T			A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.L520	ENST00000375820.4	37	c.1560	CCDS9511.1	13																																																																																			COL4A1	-	pfam_Collagen		0.547	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	C			110839653	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	silent	SNP	0.910	T
CROCCP2	84809	genome.wustl.edu	37	1	16959698	16959698	+	lincRNA	SNP	G	G	A	rs9730434	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:16959698G>A	ENST00000412962.1	-	0	74							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)		p.H56H(4)									GGTCCTTCTCGTGGAGCACCT	0.657																																																	4	Substitution - coding silent(4)	prostate(3)|endometrium(1)																																										84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16959698G>A			Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.657	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	G	NR_026752.1		16959698	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	SNP	0.766	A
CRB1	23418	genome.wustl.edu	37	1	197237592	197237592	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:197237592C>T	ENST00000367400.3	+	1	185	c.50C>T	c.(49-51)tCa>tTa	p.S17L	CRB1_ENST00000367399.2_Missense_Mutation_p.S17L|CRB1_ENST00000538660.1_Missense_Mutation_p.S17L|CRB1_ENST00000535699.1_Intron	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	17					cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CTCAGTTTCTCACTGCTTATC	0.383																																																	0													204.0	192.0	196.0					1																	197237592		2203	4300	6503	SO:0001583	missense	23418				CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.50C>T	1.37:g.197237592C>T	ENSP00000356370:p.Ser17Leu		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.S17L	ENST00000367400.3	37	c.50	CCDS1390.1	1	.	.	.	.	.	.	.	.	.	.	C	9.302	1.053395	0.19907	.	.	ENSG00000134376	ENST00000538660;ENST00000367400;ENST00000367399	D;D;D	0.86956	-2.06;-1.73;-2.19	5.67	-0.0128	0.13987	.	.	.	.	.	T	0.79347	0.4430	L	0.44542	1.39	0.18873	N	0.999989	B;B;B;B	0.14012	0.002;0.009;0.002;0.001	B;B;B;B	0.15484	0.004;0.013;0.001;0.001	T	0.61969	-0.6953	9	0.23302	T	0.38	.	7.6434	0.28307	0.0:0.3498:0.0:0.6502	.	17;17;17;42	B7Z5T2;P82279-3;P82279;Q59H36	.;.;CRUM1_HUMAN;.	L	17	ENSP00000438091:S17L;ENSP00000356370:S17L;ENSP00000356369:S17L	ENSP00000356369:S17L	S	+	2	0	CRB1	195504215	1.000000	0.71417	0.159000	0.22649	0.095000	0.18619	1.667000	0.37471	0.083000	0.17047	0.650000	0.86243	TCA	CRB1	-	NULL		0.383	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB1	HGNC	protein_coding	OTTHUMT00000086565.2	C	NM_201253		197237592	+1	no_errors	ENST00000367400	ensembl	human	known	70_37	missense	SNP	0.175	T
CR1	1378	genome.wustl.edu	37	1	207785320	207785320	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:207785320A>G	ENST00000367049.4	+	39	6509	c.6509A>G	c.(6508-6510)cAt>cGt	p.H2170R	CR1_ENST00000367052.1_Missense_Mutation_p.H1720R|CR1_ENST00000367053.1_Missense_Mutation_p.H1720R|CR1_ENST00000367051.1_Missense_Mutation_p.H1720R|CR1_ENST00000400960.2_Missense_Mutation_p.H1720R	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1720					complement activation, classical pathway (GO:0006958)|complement receptor mediated signaling pathway (GO:0002430)|innate immune response (GO:0045087)|negative regulation of complement activation, alternative pathway (GO:0045957)|negative regulation of complement activation, classical pathway (GO:0045959)|negative regulation of serine-type endopeptidase activity (GO:1900004)|positive regulation of serine-type endopeptidase activity (GO:1900005)|regulation of complement activation (GO:0030449)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	complement component C3b binding (GO:0001851)|complement component C3b receptor activity (GO:0004877)|complement component C4b binding (GO:0001855)|complement component C4b receptor activity (GO:0001861)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAACTCCCTCATGGCCGTGTG	0.483																																																	0													283.0	271.0	274.0					1																	207785320		1941	4134	6075	SO:0001583	missense	1378			Y00816	CCDS44308.1, CCDS44309.1	1q32	2014-07-19	2006-01-12		ENSG00000203710	ENSG00000203710		"""CD molecules"", ""Blood group antigens"", ""Complement system"""	2334	protein-coding gene	gene with protein product		120620	"""complement component (3b/4b) receptor 1, including Knops blood group system"""			1708809	Standard	XM_005273064		Approved	CD35, KN	uc001hfx.3	P17927	OTTHUMG00000036311	ENST00000367049.4:c.6509A>G	1.37:g.207785320A>G	ENSP00000356016:p.His2170Arg		Q16744|Q16745|Q5SR43|Q5SR45|Q9UQV2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.H2170R	ENST00000367049.4	37	c.6509	CCDS44308.1	1	.	.	.	.	.	.	.	.	.	.	A	9.497	1.102326	0.20632	.	.	ENSG00000203710	ENST00000367052;ENST00000367051;ENST00000367053;ENST00000400960;ENST00000367049	T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22	3.21	3.21	0.36854	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.56790	0.2009	L	0.38953	1.18	0.21256	N	0.999746	B;P	0.49559	0.411;0.925	B;B	0.44224	0.151;0.444	T	0.48670	-0.9015	9	0.49607	T	0.09	.	8.1798	0.31305	1.0:0.0:0.0:0.0	.	1720;2170	P17927;E9PDY4	CR1_HUMAN;.	R	1720;1720;1720;1720;2170	ENSP00000356019:H1720R;ENSP00000356018:H1720R;ENSP00000356020:H1720R;ENSP00000383744:H1720R;ENSP00000356016:H2170R	ENSP00000356016:H2170R	H	+	2	0	CR1	205851943	0.991000	0.36638	0.657000	0.29651	0.503000	0.33858	3.721000	0.54941	1.689000	0.51079	0.418000	0.28097	CAT	CR1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CR1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1	HGNC	protein_coding	OTTHUMT00000382527.1	A	NM_000573		207785320	+1	no_errors	ENST00000367049	ensembl	human	known	70_37	missense	SNP	0.728	G
CSMD3	114788	genome.wustl.edu	37	8	113256737	113256737	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:113256737G>C	ENST00000297405.5	-	65	10532	c.10288C>G	c.(10288-10290)Cat>Gat	p.H3430D	CSMD3_ENST00000455883.2_Missense_Mutation_p.H3261D|CSMD3_ENST00000343508.3_Missense_Mutation_p.H3390D|CSMD3_ENST00000352409.3_Missense_Mutation_p.H3360D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3430	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTATACCCATGAGATGGAAGG	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													131.0	115.0	120.0					8																	113256737		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10288C>G	8.37:g.113256737G>C	ENSP00000297405:p.His3430Asp		Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.H3430D	ENST00000297405.5	37	c.10288	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	12.22	1.871550	0.33069	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05;-0.05	5.37	5.37	0.77165	Complement control module (2);Sushi/SCR/CCP (3);	0.382887	0.25055	N	0.033489	T	0.58047	0.2095	L	0.38175	1.15	0.32516	N	0.536936	B;B;B	0.32101	0.356;0.213;0.159	B;B;B	0.35655	0.207;0.169;0.207	T	0.64050	-0.6498	10	0.38643	T	0.18	.	19.3052	0.94158	0.0:0.0:1.0:0.0	.	3261;3430;3390	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	3390;3430;2700;3261;3360	ENSP00000345799:H3390D;ENSP00000297405:H3430D;ENSP00000341558:H2700D;ENSP00000412263:H3261D;ENSP00000343124:H3360D	ENSP00000297405:H3430D	H	-	1	0	CSMD3	113325913	1.000000	0.71417	0.996000	0.52242	0.143000	0.21401	5.874000	0.69652	2.793000	0.96121	0.591000	0.81541	CAT	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113256737	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	0.997	C
CTNNAL1	8727	genome.wustl.edu	37	9	111745505	111745505	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:111745505C>G	ENST00000325551.4	-	6	906	c.820G>C	c.(820-822)Gaa>Caa	p.E274Q	CTNNAL1_ENST00000374595.4_Missense_Mutation_p.E274Q|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.E274Q	NM_003798.2	NP_003789.1	Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	274					cell adhesion (GO:0007155)|Rho protein signal transduction (GO:0007266)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		GTCACAATTTCAATGACCTTA	0.363																																																	0													152.0	137.0	142.0					9																	111745505		2203	4300	6503	SO:0001583	missense	8727			AF030233	CCDS6775.1, CCDS69638.1	9q31.2	2008-07-21			ENSG00000119326	ENSG00000119326			2512	protein-coding gene	gene with protein product	"""alpha-catulin"", ""alpha2-catulin"""	604785				9806841	Standard	XM_005252291		Approved	CLLP, alpha-CATU	uc004bdo.1	Q9UBT7	OTTHUMG00000020466	ENST00000325551.4:c.820G>C	9.37:g.111745505C>G	ENSP00000320434:p.Glu274Gln		B5BU47|O76084|Q53FQ2|Q5JTQ7|Q5JTQ8|Q9Y401	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin	p.E274Q	ENST00000325551.4	37	c.820	CCDS6775.1	9	.	.	.	.	.	.	.	.	.	.	C	17.23	3.337956	0.60963	.	.	ENSG00000119326	ENST00000374595;ENST00000325551;ENST00000325580	T;T;T	0.37058	1.22;1.22;1.22	6.01	6.01	0.97437	.	0.089490	0.85682	D	0.000000	T	0.52484	0.1737	L	0.50919	1.6	0.80722	D	1	D;D;P;D	0.89917	0.999;1.0;0.877;0.999	D;D;P;D	0.71870	0.961;0.975;0.721;0.961	T	0.26018	-1.0115	10	0.13853	T	0.58	-12.6141	18.015	0.89236	0.0:1.0:0.0:0.0	.	274;274;274;274	B2RBI4;Q9UBT7-3;Q9UBT7-2;Q9UBT7	.;.;.;CTNL1_HUMAN	Q	274	ENSP00000363723:E274Q;ENSP00000320434:E274Q;ENSP00000323351:E274Q	ENSP00000320434:E274Q	E	-	1	0	CTNNAL1	110785326	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.756000	0.85195	2.861000	0.98227	0.650000	0.86243	GAA	CTNNAL1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.363	CTNNAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CTNNAL1	HGNC	protein_coding	OTTHUMT00000053577.1	C	NM_003798		111745505	-1	no_errors	ENST00000325551	ensembl	human	known	70_37	missense	SNP	1.000	G
CUBN	8029	genome.wustl.edu	37	10	17110148	17110148	+	Missense_Mutation	SNP	C	C	G	rs199835213		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:17110148C>G	ENST00000377833.4	-	21	2988	c.2923G>C	c.(2923-2925)Gaa>Caa	p.E975Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	975	CUB 5. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAATGTTTCGAACATTAAA	0.408																																																	0													141.0	134.0	136.0					10																	17110148		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.2923G>C	10.37:g.17110148C>G	ENSP00000367064:p.Glu975Gln		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.E975Q	ENST00000377833.4	37	c.2923	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	C	0.328	-0.957740	0.02267	.	.	ENSG00000107611	ENST00000377833	T	0.18338	2.22	5.55	-6.39	0.01951	CUB (5);	1.573020	0.03911	N	0.281847	T	0.07279	0.0184	N	0.11255	0.115	0.20563	N	0.999889	B	0.17038	0.02	B	0.22386	0.039	T	0.34625	-0.9821	10	0.14656	T	0.56	.	5.3483	0.16022	0.0976:0.4621:0.0997:0.3406	.	975	O60494	CUBN_HUMAN	Q	975	ENSP00000367064:E975Q	ENSP00000367064:E975Q	E	-	1	0	CUBN	17150154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.678000	0.05209	-0.401000	0.07644	-0.880000	0.02959	GAA	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.408	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	C	NM_001081		17110148	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.000	G
DHCR24	1718	genome.wustl.edu	37	1	55317994	55317994	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:55317994G>A	ENST00000371269.3	-	9	1561	c.1463C>T	c.(1462-1464)tCc>tTc	p.S488F	DHCR24_ENST00000537443.1_Missense_Mutation_p.S272F|DHCR24_ENST00000535035.1_Missense_Mutation_p.S447F	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	488					amyloid precursor protein catabolic process (GO:0042987)|apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cholesterol biosynthetic process (GO:0006695)|male genitalia development (GO:0030539)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|oxidation-reduction process (GO:0055114)|plasminogen activation (GO:0031639)|protein localization (GO:0008104)|Ras protein signal transduction (GO:0007265)|regulation of neuron death (GO:1901214)|response to hormone (GO:0009725)|response to oxidative stress (GO:0006979)|skin development (GO:0043588)|small molecule metabolic process (GO:0044281)|tissue development (GO:0009888)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	delta24(24-1) sterol reductase activity (GO:0000246)|delta24-sterol reductase activity (GO:0050614)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|peptide antigen binding (GO:0042605)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GTGGTACAAGGAGCCATCAAA	0.597																																					Pancreas(39;516 1021 24601 30715 32780)												0													144.0	125.0	131.0					1																	55317994		2203	4300	6503	SO:0001583	missense	1718			AF261758	CCDS600.1	1p32.3	2008-02-05			ENSG00000116133	ENSG00000116133			2859	protein-coding gene	gene with protein product		606418				11519011	Standard	NM_014762		Approved	KIAA0018, seladin-1	uc001cyc.1	Q15392	OTTHUMG00000009989	ENST00000371269.3:c.1463C>T	1.37:g.55317994G>A	ENSP00000360316:p.Ser488Phe		B7Z817|D3DQ51|Q9HBA8	Missense_Mutation	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.S488F	ENST00000371269.3	37	c.1463	CCDS600.1	1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.207072	0.79127	.	.	ENSG00000116133	ENST00000539536;ENST00000371269;ENST00000537443;ENST00000535035	T;T;T	0.71579	-0.58;-0.58;-0.58	5.45	5.45	0.79879	.	0.277164	0.40064	N	0.001199	T	0.77274	0.4106	M	0.61703	1.905	0.46901	D	0.999246	D;P;D	0.56035	0.974;0.943;0.974	P;P;P	0.50617	0.646;0.547;0.553	T	0.78658	-0.2118	10	0.52906	T	0.07	-42.9406	19.2751	0.94029	0.0:0.0:1.0:0.0	.	447;447;488	B7Z817;B7ZAV4;Q15392	.;.;DHC24_HUMAN	F	214;488;272;447	ENSP00000360316:S488F;ENSP00000439852:S272F;ENSP00000440191:S447F	ENSP00000360316:S488F	S	-	2	0	DHCR24	55090582	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	5.229000	0.65316	2.572000	0.86782	0.462000	0.41574	TCC	DHCR24	-	NULL		0.597	DHCR24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHCR24	HGNC	protein_coding	OTTHUMT00000027680.1	G	NM_014762		55317994	-1	no_errors	ENST00000371269	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH2	146754	genome.wustl.edu	37	17	7695328	7695328	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:7695328G>T	ENST00000572933.1	+	45	8454	c.6994G>T	c.(6994-6996)Gag>Tag	p.E2332*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.E2332*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2332					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGATGAGGAGGGCCGGAA	0.542																																																	0													176.0	153.0	161.0					17																	7695328		2203	4300	6503	SO:0001587	stop_gained	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.6994G>T	17.37:g.7695328G>T	ENSP00000458355:p.Glu2332*		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.E2332*	ENST00000572933.1	37	c.6994	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	G	48	14.154140	0.99782	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	.	.	.	4.98	4.98	0.66077	.	0.361909	0.27130	N	0.020787	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	17.1946	0.86890	0.0:0.0:1.0:0.0	.	.	.	.	X	2332	.	ENSP00000353818:E2332X	E	+	1	0	DNAH2	7636053	1.000000	0.71417	0.997000	0.53966	0.927000	0.56198	5.564000	0.67359	2.581000	0.87130	0.643000	0.83706	GAG	DNAH2	-	NULL		0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	G	NM_020877		7695328	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAH17	8632	genome.wustl.edu	37	17	76454789	76454789	+	Intron	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:76454789G>A	ENST00000585328.1	-	62	9971				DNAH17_ENST00000586052.1_Intron|DNAH17_ENST00000389840.5_Intron	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGCTGCTGGAAAACCCCA	0.557																																																	0													86.0	80.0	82.0					17																	76454789		2203	4300	6503	SO:0001627	intron_variant	8632			AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.9847-27C>T	17.37:g.76454789G>A			O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	RNA	SNP	-	NULL	ENST00000585328.1	37	NULL		17																																																																																			DNAH17	-	-		0.557	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	DNAH17	HGNC	protein_coding	OTTHUMT00000318962.2	G	NM_173628		76454789	-1	no_errors	ENST00000592152	ensembl	human	known	70_37	rna	SNP	0.000	A
DOCK10	55619	genome.wustl.edu	37	2	225662651	225662651	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:225662651C>G	ENST00000258390.7	-	42	4609	c.4542G>C	c.(4540-4542)ttG>ttC	p.L1514F	DOCK10_ENST00000409592.3_Missense_Mutation_p.L1508F	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1514					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CCCTTTTCATCAATGAATTTT	0.368																																																	0													91.0	90.0	90.0					2																	225662651		1890	4120	6010	SO:0001583	missense	55619			AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4542G>C	2.37:g.225662651C>G	ENSP00000258390:p.Leu1514Phe		B3FL70|O75178|Q9NW06|Q9NXI8	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L1514F	ENST00000258390.7	37	c.4542	CCDS46528.1	2	.	.	.	.	.	.	.	.	.	.	C	15.27	2.785096	0.49997	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	T;T	0.61158	3.53;0.13	5.95	1.06	0.20224	.	0.412070	0.25958	N	0.027202	T	0.58949	0.2158	M	0.76838	2.35	0.34225	D	0.675859	P;B;P;P	0.43938	0.549;0.177;0.586;0.822	B;B;B;P	0.48901	0.145;0.06;0.261;0.594	T	0.64002	-0.6509	10	0.87932	D	0	.	2.1673	0.03840	0.1218:0.4892:0.1243:0.2646	.	1514;368;1508;176	Q96BY6;B4DF07;B3FL70;B4DEY4	DOC10_HUMAN;.;.;.	F	1508;1514;52	ENSP00000386694:L1508F;ENSP00000258390:L1514F	ENSP00000258390:L1514F	L	-	3	2	DOCK10	225370895	1.000000	0.71417	0.549000	0.28204	0.993000	0.82548	1.950000	0.40323	-0.082000	0.12640	0.655000	0.94253	TTG	DOCK10	-	superfamily_ARM-type_fold		0.368	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK10	HGNC	protein_coding	OTTHUMT00000331246.1	C			225662651	-1	no_errors	ENST00000258390	ensembl	human	known	70_37	missense	SNP	0.986	G
DOCK8	81704	genome.wustl.edu	37	9	368025	368025	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:368025C>G	ENST00000453981.1	+	15	1799	c.1687C>G	c.(1687-1689)Ctc>Gtc	p.L563V	DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.L495V|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000432829.2_Missense_Mutation_p.L495V			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	563	DHR-1.				blood coagulation (GO:0007596)|dendritic cell migration (GO:0036336)|immunological synapse formation (GO:0001771)|memory T cell proliferation (GO:0061485)|negative regulation of T cell apoptotic process (GO:0070233)|small GTPase mediated signal transduction (GO:0007264)	cell leading edge (GO:0031252)|cytosol (GO:0005829)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAGAAACCTTCTCTATGTCTA	0.378																																																	0													86.0	81.0	82.0					9																	368025		2203	4300	6503	SO:0001583	missense	81704			AK090429	CCDS6440.1, CCDS6440.2, CCDS55283.1, CCDS55284.1	9p24.3	2014-09-17			ENSG00000107099	ENSG00000107099			19191	protein-coding gene	gene with protein product		611432				11214971	Standard	NM_203447		Approved	FLJ00026, FLJ00152, ZIR8, FLJ00346	uc003zgf.2	Q8NF50	OTTHUMG00000078789	ENST00000453981.1:c.1687C>G	9.37:g.368025C>G	ENSP00000408464:p.Leu563Val		A2A350|A2BDF2|A4FU78|B7ZLP0|E9PH09|Q3MV16|Q5JPJ1|Q8TEP1|Q8WUY2|Q9BYJ5|Q9H1Q2|Q9H1Q3|Q9H308|Q9H7P2	Missense_Mutation	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.L563V	ENST00000453981.1	37	c.1687	CCDS6440.2	9	.	.	.	.	.	.	.	.	.	.	C	20.9	4.065853	0.76187	.	.	ENSG00000107099	ENST00000453981;ENST00000287364;ENST00000432829;ENST00000469391	T;T;T	0.26518	1.73;1.73;1.73	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.60586	0.2280	M	0.91354	3.2	0.80722	D	1	D;D	0.65815	0.995;0.995	D;D	0.67382	0.951;0.951	T	0.70357	-0.4894	10	0.72032	D	0.01	.	18.9969	0.92817	0.0:1.0:0.0:0.0	.	495;563	E9PH09;Q8NF50	.;DOCK8_HUMAN	V	563;563;495;495	ENSP00000408464:L563V;ENSP00000394888:L495V;ENSP00000419438:L495V	ENSP00000287364:L563V	L	+	1	0	DOCK8	358025	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.901000	0.69861	2.583000	0.87209	0.650000	0.86243	CTC	DOCK8	-	NULL		0.378	DOCK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK8	HGNC	protein_coding	OTTHUMT00000171792.5	C	XM_036307		368025	+1	no_errors	ENST00000453981	ensembl	human	known	70_37	missense	SNP	1.000	G
DSCR3	10311	genome.wustl.edu	37	21	38593674	38593674	+	IGR	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr21:38593674G>A	ENST00000309117.6	-	0	3256				DSCR3_ENST00000399000.3_5'Flank|AP001432.14_ENST00000440629.1_lincRNA|DSCR9_ENST00000454482.2_lincRNA	NM_006052.1	NP_006043.1	O14972	DSCR3_HUMAN	Down syndrome critical region gene 3							nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						GCCTACAGCCGAAGAGGATGG	0.642																																																	0													51.0	52.0	52.0					21																	38593674		2203	4300	6503	SO:0001628	intergenic_variant	257203			D87343	CCDS33553.1	21q22.2	2008-05-22			ENSG00000157538	ENSG00000157538			3044	protein-coding gene	gene with protein product		605298				9399594	Standard	NM_006052		Approved	DCRA	uc002ywf.1	O14972	OTTHUMG00000086659		21.37:g.38593674G>A			B2R6T8|B7Z6B1|D3DSH4|Q2TAY6	RNA	SNP	-	NULL	ENST00000309117.6	37	NULL	CCDS33553.1	21																																																																																			DSCR9	-	-		0.642	DSCR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCR9	HGNC	protein_coding	OTTHUMT00000194807.1	G			38593674	+1	no_errors	ENST00000454482	ensembl	human	known	70_37	rna	SNP	0.003	A
DSP	1832	genome.wustl.edu	37	6	7581095	7581095	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:7581095C>T	ENST00000379802.3	+	23	5013	c.4672C>T	c.(4672-4674)Cgg>Tgg	p.R1558W	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1558	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGATATCACGCGGTTCCAGAA	0.517																																																	0													80.0	85.0	83.0					6																	7581095		2203	4300	6503	SO:0001583	missense	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.4672C>T	6.37:g.7581095C>T	ENSP00000369129:p.Arg1558Trp		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.R1558W	ENST00000379802.3	37	c.4672	CCDS4501.1	6	.	.	.	.	.	.	.	.	.	.	C	13.37	2.216342	0.39201	.	.	ENSG00000096696	ENST00000379802	T	0.75050	-0.9	5.58	-4.43	0.03568	.	0.136641	0.34777	N	0.003697	T	0.64450	0.2599	L	0.39898	1.24	0.26997	N	0.965007	D	0.65815	0.995	P	0.55345	0.774	T	0.73046	-0.4106	10	0.72032	D	0.01	.	19.0115	0.92875	0.3738:0.6262:0.0:0.0	.	1558	P15924	DESP_HUMAN	W	1558	ENSP00000369129:R1558W	ENSP00000369129:R1558W	R	+	1	2	DSP	7526094	0.894000	0.30519	0.005000	0.12908	0.519000	0.34347	2.191000	0.42640	-0.511000	0.06514	0.655000	0.94253	CGG	DSP	-	NULL		0.517	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7581095	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	missense	SNP	0.036	T
DST	667	genome.wustl.edu	37	6	56504768	56504768	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:56504768C>G	ENST00000361203.3	-	15	1952	c.1945G>C	c.(1945-1947)Gaa>Caa	p.E649Q	DST_ENST00000421834.2_Missense_Mutation_p.E649Q|DST_ENST00000370769.4_Missense_Mutation_p.E649Q|DST_ENST00000446842.2_Missense_Mutation_p.E323Q|DST_ENST00000370754.5_Missense_Mutation_p.E827Q|DST_ENST00000244364.6_Missense_Mutation_p.E323Q|DST_ENST00000518935.1_Missense_Mutation_p.E323Q|DST_ENST00000312431.6_Missense_Mutation_p.E649Q|DST_ENST00000370788.2_Missense_Mutation_p.E649Q|DST_ENST00000370765.6_Missense_Mutation_p.E323Q			Q03001	DYST_HUMAN	dystonin	649					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAATTCTTCAATAGCTCTA	0.323																																																	0													55.0	60.0	58.0					6																	56504768		2202	4299	6501	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.1945G>C	6.37:g.56504768C>G	ENSP00000354508:p.Glu649Gln		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.E827Q	ENST00000361203.3	37	c.2479		6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.585252	0.86748	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	D;D;D;D;D;D;D;D;D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23;-3.23	5.45	5.45	0.79879	.	0.000000	0.50627	D	0.000106	D	0.95834	0.8644	M	0.65498	2.005	0.30692	N	0.751219	D;D;D;D;D;P;D;D;D;P	0.89917	0.996;1.0;0.996;0.999;1.0;0.948;0.996;0.964;1.0;0.755	D;D;D;D;D;P;D;P;D;P	0.85130	0.973;0.993;0.973;0.988;0.997;0.623;0.978;0.884;0.993;0.698	D	0.94127	0.7385	9	0.38643	T	0.18	.	19.4736	0.94973	0.0:1.0:0.0:0.0	.	678;649;649;827;765;323;323;323;649;323	B4DGY0;Q5TBT1;E7ERU2;E9PEB9;Q03001-13;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;.;.;DYST_HUMAN;.	Q	323;827;649;649;323;649;649;649;323;689;323;323	ENSP00000244364:E323Q;ENSP00000359790:E827Q;ENSP00000359805:E649Q;ENSP00000400883:E649Q;ENSP00000393645:E323Q;ENSP00000307959:E649Q;ENSP00000359824:E649Q;ENSP00000354508:E649Q;ENSP00000404924:E323Q;ENSP00000431030:E689Q;ENSP00000359801:E323Q;ENSP00000431003:E323Q	ENSP00000244364:E323Q	E	-	1	0	DST	56612727	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.869000	0.69613	2.836000	0.97738	0.655000	0.94253	GAA	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56504768	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G
DYNC1I2	1781	genome.wustl.edu	37	2	172549339	172549339	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:172549339delA	ENST00000397119.3	+	3	328	c.161delA	c.(160-162)gaafs	p.E54fs	DYNC1I2_ENST00000410079.3_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000534253.2_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000263811.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409317.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000340296.4_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409773.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409197.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000508530.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000409453.1_Frame_Shift_Del_p.E54fs|DYNC1I2_ENST00000358002.6_Frame_Shift_Del_p.E54fs	NM_001378.1	NP_001369.1	Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	54					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|G2/M transition of mitotic cell cycle (GO:0000086)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|microtubule (GO:0005874)|vesicle (GO:0031982)	microtubule motor activity (GO:0003777)	p.R57fs*13(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			TCAGATCTTGAAAAAAAAAGG	0.353																																																	1	Deletion - Frameshift(1)	large_intestine(1)								31,25,3492		1,0,29,4,17,1723	43.0	42.0	42.0			5.7	1.0	2		43	56,78,7706		0,0,56,13,52,3799	no	codingComplex	DYNC1I2	NM_001378.1		1,0,85,17,69,5522	A1A1,A1A2,A1R,A2A2,A2R,RR		1.7092,1.5784,1.6684			172549339	87,103,11198	1838	4091	5929	SO:0001589	frameshift_variant	1781			AK055491	CCDS46450.1, CCDS63054.1, CCDS63056.1, CCDS63057.1	2q31.1	2013-01-10	2005-11-24	2005-11-24	ENSG00000077380	ENSG00000077380		"""Cytoplasmic dyneins"", ""WD repeat domain containing"""	2964	protein-coding gene	gene with protein product		603331	"""dynein, cytoplasmic, intermediate polypeptide 2"""	DNCI2		10049579, 16260502	Standard	NM_001378		Approved		uc002uha.2	Q13409	OTTHUMG00000154061	ENST00000397119.3:c.161delA	2.37:g.172549339delA	ENSP00000380308:p.Glu54fs		B7ZA04|D3DPD4|D3DPD5|D3DPD6|Q32LY9|Q53S84|Q5BJF8|Q7Z4X1|Q96NG7|Q96S87|Q9BXZ5|Q9NT58	Frame_Shift_Del	DEL	pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.R57fs	ENST00000397119.3	37	c.161	CCDS46450.1	2																																																																																			DYNC1I2	-	NULL		0.353	DYNC1I2-001	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	DYNC1I2	HGNC	protein_coding	OTTHUMT00000333683.2	A	NM_001378		172549339	+1	no_errors	ENST00000397119	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
DYNC2H1	79659	genome.wustl.edu	37	11	103187327	103187327	+	Frame_Shift_Del	DEL	C	C	-	rs144624858	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:103187327delC	ENST00000375735.2	+	80	11847	c.11703delC	c.(11701-11703)aacfs	p.N3901fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.N3908fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3901	AAA 6. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGTACAACATTATTGACA	0.274																																																	0													43.0	40.0	41.0					11																	103187327		1773	4035	5808	SO:0001589	frameshift_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.11703delC	11.37:g.103187327delC	ENSP00000364887:p.Asn3901fs		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Frame_Shift_Del	DEL	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.N3908fs	ENST00000375735.2	37	c.11724	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom		0.274	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103187327	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	frame_shift_del	DEL	0.996	-
ELMO1	9844	genome.wustl.edu	37	7	37298896	37298896	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:37298896C>T	ENST00000310758.4	-	6	950	c.303G>A	c.(301-303)ctG>ctA	p.L101L	ELMO1_ENST00000442504.1_Silent_p.L101L|ELMO1_ENST00000448602.1_Silent_p.L101L	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	101					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TCAGGGCTTCCAGCTTGGCAT	0.537																																																	0													68.0	61.0	64.0					7																	37298896		2203	4300	6503	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.303G>A	7.37:g.37298896C>T			A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.L101	ENST00000310758.4	37	c.303	CCDS5449.1	7																																																																																			ELMO1	-	superfamily_ARM-type_fold		0.537	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		37298896	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	silent	SNP	1.000	T
EGFR	1956	genome.wustl.edu	37	7	55214393	55214393	+	Silent	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:55214393C>G	ENST00000275493.2	+	4	696	c.519C>G	c.(517-519)ctC>ctG	p.L173L	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000344576.2_Silent_p.L173L|EGFR_ENST00000342916.3_Silent_p.L173L|EGFR_ENST00000442591.1_Silent_p.L173L|EGFR_ENST00000420316.2_Silent_p.L173L|EGFR_ENST00000454757.2_Silent_p.L120L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	173			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGACTTTCTCAGCAACATGT	0.567		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													127.0	102.0	110.0					7																	55214393		2203	4300	6503	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.519C>G	7.37:g.55214393C>G			O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L173	ENST00000275493.2	37	c.519	CCDS5514.1	7																																																																																			EGFR	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.567	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55214393	+1	no_errors	ENST00000275493	ensembl	human	known	70_37	silent	SNP	0.009	G
ENAM	10117	genome.wustl.edu	37	4	71509510	71509510	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:71509510G>C	ENST00000396073.3	+	9	2648	c.2367G>C	c.(2365-2367)caG>caC	p.Q789H	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	789					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TCTGGGATCAGGCAACACATT	0.463																																																	0													85.0	88.0	87.0					4																	71509510		2203	4300	6503	SO:0001583	missense	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.2367G>C	4.37:g.71509510G>C	ENSP00000379383:p.Gln789His		Q17RI5|Q9H3D1	Missense_Mutation	SNP	NULL	p.Q789H	ENST00000396073.3	37	c.2367	CCDS3544.2	4	.	.	.	.	.	.	.	.	.	.	G	7.601	0.672762	0.14776	.	.	ENSG00000132464	ENST00000396073	T	0.35048	1.33	5.98	2.11	0.27256	.	0.494819	0.18881	N	0.128568	T	0.52677	0.1749	M	0.77406	2.37	0.22171	N	0.999311	D	0.89917	1.0	D	0.73708	0.981	T	0.32402	-0.9908	10	0.48119	T	0.1	-0.0469	4.9782	0.14151	0.2531:0.1542:0.5926:0.0	.	789	Q9NRM1	ENAM_HUMAN	H	789	ENSP00000379383:Q789H	ENSP00000379383:Q789H	Q	+	3	2	ENAM	71728374	0.051000	0.20477	0.513000	0.27749	0.021000	0.10359	0.586000	0.23894	0.871000	0.35750	-0.136000	0.14681	CAG	ENAM	-	NULL		0.463	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENAM	HGNC	protein_coding	OTTHUMT00000252166.3	G	NM_031889		71509510	+1	no_errors	ENST00000396073	ensembl	human	known	70_37	missense	SNP	0.488	C
EXOSC4	54512	genome.wustl.edu	37	8	145135043	145135043	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:145135043C>G	ENST00000316052.5	+	2	472	c.369C>G	c.(367-369)atC>atG	p.I123M	GPAA1_ENST00000355091.4_5'Flank|CTD-3065J16.9_ENST00000524499.1_RNA|EXOSC4_ENST00000525936.1_Intron|GPAA1_ENST00000361036.6_5'Flank	NM_019037.2	NP_061910.1	Q9NPD3	EXOS4_HUMAN	exosome component 4	123					defense response to virus (GO:0051607)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|AU-rich element binding (GO:0017091)			lung(4)|prostate(1)|upper_aerodigestive_tract(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGATTGATATCTATGTGCAGG	0.592																																																	0													43.0	35.0	37.0					8																	145135043		2203	4300	6503	SO:0001583	missense	54512			AF281133	CCDS6414.1	8q24.3	2004-03-26			ENSG00000178896	ENSG00000178896			18189	protein-coding gene	gene with protein product	"""exosome component Rrp41"""	606491				11110791	Standard	NM_019037		Approved	hRrp41p, FLJ20591, Rrp41p, RRP41, RRP41A, Ski6p, SKI6, p12A	uc003zau.3	Q9NPD3	OTTHUMG00000165437	ENST00000316052.5:c.369C>G	8.37:g.145135043C>G	ENSP00000315476:p.Ile123Met			Missense_Mutation	SNP	pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2	p.I123M	ENST00000316052.5	37	c.369	CCDS6414.1	8	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644124	0.67244	.	.	ENSG00000178896	ENST00000316052;ENST00000527954	T;T	0.70986	-0.53;-0.53	5.05	2.2	0.27929	Ribosomal protein S5 domain 2-type fold (1);Exoribonuclease, phosphorolytic domain 1 (1);	0.000000	0.85682	D	0.000000	D	0.87055	0.6082	H	0.97682	4.055	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	D	0.84188	0.0443	10	0.87932	D	0	-15.8819	6.2481	0.20830	0.1486:0.6847:0.0:0.1667	.	123	Q9NPD3	EXOS4_HUMAN	M	123;146	ENSP00000315476:I123M;ENSP00000436539:I146M	ENSP00000315476:I123M	I	+	3	3	EXOSC4	145207031	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	1.843000	0.39259	0.144000	0.18951	0.561000	0.74099	ATC	EXOSC4	-	pfam_ExoRNase_PH_dom1,superfamily_Ribosomal_S5_D2-typ_fold		0.592	EXOSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOSC4	HGNC	protein_coding	OTTHUMT00000384065.1	C	NM_019037		145135043	+1	no_errors	ENST00000316052	ensembl	human	known	70_37	missense	SNP	1.000	G
FANCA	2175	genome.wustl.edu	37	16	89805325	89805325	+	Missense_Mutation	SNP	G	G	A	rs139478274		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:89805325G>A	ENST00000389301.3	-	42	4255	c.4225C>T	c.(4225-4227)Cgg>Tgg	p.R1409W	ZNF276_ENST00000289816.5_3'UTR|FANCA_ENST00000568369.1_Missense_Mutation_p.S1410L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1409					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TTCGGGCACCGAGGTATTAAC	0.507			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	1	0.000199681	0.0	0.0	5008	,	,		22217	0.001		0.0	False		,,,				2504	0.0						yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0								G	TRP/ARG,,	0,4396		0,0,2198	91.0	93.0	92.0		4225,,	4.4	0.4	16	dbSNP_134	92	1,8599	1.2+/-3.3	0,1,4299	yes	missense,utr-3,utr-3	FANCA,ZNF276	NM_000135.2,NM_001113525.1,NM_152287.3	101,,	0,1,6497	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,,	1409/1456,,	89805325	1,12995	2198	4300	6498	SO:0001583	missense	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.4225C>T	16.37:g.89805325G>A	ENSP00000373952:p.Arg1409Trp		A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Missense_Mutation	SNP	pfam_Fanconia,prints_Fanconia	p.R1409W	ENST00000389301.3	37	c.4225	CCDS32515.1	16	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524821	0.64747	0.0	1.16E-4	ENSG00000187741	ENST00000389301	D	0.85258	-1.96	5.39	4.42	0.53409	.	0.613193	0.15370	N	0.265899	D	0.85660	0.5748	L	0.53249	1.67	0.32280	N	0.56773	D	0.76494	0.999	P	0.50490	0.642	D	0.87148	0.2207	10	0.72032	D	0.01	-11.2417	11.2682	0.49122	0.0:0.0:0.805:0.195	.	1409	O15360	FANCA_HUMAN	W	1409	ENSP00000373952:R1409W	ENSP00000373952:R1409W	R	-	1	2	FANCA	88332826	0.025000	0.19082	0.436000	0.26797	0.879000	0.50718	2.155000	0.42301	1.237000	0.43756	0.650000	0.86243	CGG	FANCA	-	NULL		0.507	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	G			89805325	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	missense	SNP	0.243	A
FANCL	55120	genome.wustl.edu	37	2	58388716	58388716	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:58388716C>T	ENST00000233741.4	-	12	997	c.961G>A	c.(961-963)Gat>Aat	p.D321N	FANCL_ENST00000403676.1_Missense_Mutation_p.D204N|FANCL_ENST00000402135.3_Missense_Mutation_p.D326N|FANCL_ENST00000403295.3_Missense_Mutation_p.D293N	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	321					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						CACACTTGATCAGGAATGGTA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													98.0	101.0	100.0					2																	58388716		2202	4300	6502	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.961G>A	2.37:g.58388716C>T	ENSP00000233741:p.Asp321Asn		Q6GU60	Missense_Mutation	SNP	pfam_FancL_WD-rpt_cont_dom	p.D321N	ENST00000233741.4	37	c.961	CCDS1860.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.373910	0.95923	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070	T;T;T;T;T	0.69306	-0.39;-0.33;-0.33;-0.39;-0.39	5.91	5.04	0.67666	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);	0.134986	0.64402	N	0.000003	T	0.78052	0.4223	L	0.53617	1.68	0.80722	D	1	D;D;D;D	0.89917	0.997;0.997;1.0;1.0	D;D;D;D	0.80764	0.961;0.936;0.993;0.994	T	0.80042	-0.1548	10	0.66056	D	0.02	-6.3707	14.8499	0.70289	0.0:0.9314:0.0:0.0686	.	262;293;326;321	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	N	293;321;326;204;262	ENSP00000386097:D293N;ENSP00000233741:D321N;ENSP00000385021:D326N;ENSP00000384046:D204N;ENSP00000401280:D262N	ENSP00000233741:D321N	D	-	1	0	FANCL	58242220	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.692000	0.68256	1.510000	0.48803	0.650000	0.86243	GAT	FANCL	-	NULL		0.313	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FANCL	HGNC	protein_coding	OTTHUMT00000251497.1	C	NM_018062		58388716	-1	no_errors	ENST00000233741	ensembl	human	known	70_37	missense	SNP	1.000	T
FAT4	79633	genome.wustl.edu	37	4	126411397	126411397	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:126411397C>G	ENST00000394329.3	+	17	13433	c.13420C>G	c.(13420-13422)Cct>Gct	p.P4474A	FAT4_ENST00000335110.5_Missense_Mutation_p.P2715A	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4474					branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CGTCCTCTGTCCTCAGGGGAA	0.612																																																	0													86.0	81.0	83.0					4																	126411397		2203	4300	6503	SO:0001583	missense	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.13420C>G	4.37:g.126411397C>G	ENSP00000377862:p.Pro4474Ala		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.P4474A	ENST00000394329.3	37	c.13420	CCDS3732.3	4	.	.	.	.	.	.	.	.	.	.	C	10.51	1.371749	0.24857	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.76839	-0.83;-1.05	5.17	5.17	0.71159	.	0.615519	0.12441	U	0.468720	T	0.63757	0.2538	N	0.17564	0.495	0.46458	D	0.999051	B;B;B	0.13594	0.008;0.005;0.008	B;B;B	0.14578	0.011;0.005;0.011	T	0.55309	-0.8161	10	0.14252	T	0.57	.	14.1198	0.65180	0.0:0.8377:0.1623:0.0	.	2715;4474;4473	Q6V0I7-2;Q6V0I7;Q6V0I7-3	.;FAT4_HUMAN;.	A	4474;2715	ENSP00000377862:P4474A;ENSP00000335169:P2715A	ENSP00000335169:P2715A	P	+	1	0	FAT4	126630847	1.000000	0.71417	1.000000	0.80357	0.680000	0.39746	4.850000	0.62889	2.395000	0.81488	0.561000	0.74099	CCT	FAT4	-	NULL		0.612	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT4	HGNC	protein_coding	OTTHUMT00000256765.2	C	NM_024582		126411397	+1	no_errors	ENST00000394329	ensembl	human	known	70_37	missense	SNP	1.000	G
FAT1	2195	genome.wustl.edu	37	4	187540003	187540003	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:187540003G>A	ENST00000441802.2	-	10	7946	c.7737C>T	c.(7735-7737)ttC>ttT	p.F2579F		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2579	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCACGGTGCAGAAAGCAACTT	0.443										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													53.0	51.0	52.0					4																	187540003		1947	4144	6091	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7737C>T	4.37:g.187540003G>A				Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.F2579	ENST00000441802.2	37	c.7737	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.443	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187540003	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXW12	285231	genome.wustl.edu	37	3	48423302	48423302	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:48423302C>T	ENST00000296438.5	+	9	1284	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FBXW12_ENST00000445170.1_Silent_p.F347F|FBXW12_ENST00000415155.1_Silent_p.F296F|RN7SL321P_ENST00000581742.1_RNA|FBXW12_ENST00000468158.1_3'UTR|FBXW12_ENST00000436231.1_Silent_p.F209F	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	366										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGTTACTCTTCAGCATCACTG	0.473																																																	0													160.0	136.0	144.0					3																	48423302		2203	4300	6503	SO:0001819	synonymous_variant	285231			AK097594, AY247969	CCDS2764.1, CCDS54577.1, CCDS54578.1	3p21.31	2011-07-01	2007-02-08	2004-07-21	ENSG00000164049	ENSG00000164049		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	20729	protein-coding gene	gene with protein product		609075	"""F-box only protein 35"", ""F-box and WD-40 domain protein 12"""	FBXO35		15040455	Standard	NM_207102		Approved	Fbw12	uc010hjv.3	Q6X9E4	OTTHUMG00000133530	ENST00000296438.5:c.1098C>T	3.37:g.48423302C>T			E9PG36|Q494Y9|Q494Z0	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F366	ENST00000296438.5	37	c.1098	CCDS2764.1	3																																																																																			FBXW12	-	superfamily_Quino_amine_DH_bsu		0.473	FBXW12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXW12	HGNC	protein_coding	OTTHUMT00000257505.1	C	NM_207102		48423302	+1	no_errors	ENST00000296438	ensembl	human	known	70_37	silent	SNP	0.335	T
FCRL1	115350	genome.wustl.edu	37	1	157773666	157773666	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:157773666C>G	ENST00000368176.3	-	3	355	c.288G>C	c.(286-288)ttG>ttC	p.L96F	FCRL1_ENST00000358292.3_Missense_Mutation_p.L96F|FCRL1_ENST00000491942.1_Missense_Mutation_p.L96F|FCRL1_ENST00000489998.1_5'UTR	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	96	Ig-like C2-type 1.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TCCTGCTCCTCAAGACTTTGG	0.557																																					GBM(54;482 1003 11223 30131 35730)												0													119.0	101.0	107.0					1																	157773666		2203	4300	6503	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.288G>C	1.37:g.157773666C>G	ENSP00000357158:p.Leu96Phe		B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L96F	ENST00000368176.3	37	c.288	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	C	13.27	2.188438	0.38609	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.11930	2.73;2.73;2.73	4.29	-8.57	0.00900	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	3.515910	0.00892	N	0.002242	T	0.03053	0.0090	L	0.47716	1.5	0.09310	N	1	P;P;P	0.39404	0.642;0.672;0.666	P;P;B	0.44518	0.452;0.452;0.213	T	0.46331	-0.9199	10	0.10636	T	0.68	.	1.1519	0.01787	0.3379:0.1133:0.3182:0.2307	.	96;96;96	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	F	96	ENSP00000351039:L96F;ENSP00000357158:L96F;ENSP00000418130:L96F	ENSP00000351039:L96F	L	-	3	2	FCRL1	156040290	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-1.084000	0.03393	-1.885000	0.01118	-0.140000	0.14226	TTG	FCRL1	-	smart_Ig_sub,pfscan_Ig-like		0.557	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	C	NM_052938		157773666	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	missense	SNP	0.000	G
FCRL1	115350	genome.wustl.edu	37	1	157789795	157789795	+	Splice_Site	SNP	A	A	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:157789795A>G	ENST00000368176.3	-	1	99		c.e1+1		FCRL1_ENST00000358292.3_Splice_Site|FCRL1_ENST00000491942.1_Splice_Site	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TGCCCAACTCACCACAGATCA	0.517																																					GBM(54;482 1003 11223 30131 35730)												0													127.0	104.0	112.0					1																	157789795		2203	4300	6503	SO:0001630	splice_region_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.31+1T>C	1.37:g.157789795A>G			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Splice_Site	SNP	-	e1+2	ENST00000368176.3	37	c.31+2	CCDS1170.1	1	.	.	.	.	.	.	.	.	.	.	A	14.86	2.662835	0.47572	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	.	.	.	3.7	3.7	0.42460	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.0854	0.36579	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FCRL1	156056419	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	3.282000	0.51693	1.921000	0.55644	0.533000	0.62120	.	FCRL1	-	-		0.517	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	A	NM_052938	Intron	157789795	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	splice_site	SNP	1.000	G
FKBP8	23770	genome.wustl.edu	37	19	18643524	18643524	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:18643524G>T	ENST00000596558.2	-	8	1211	c.1102C>A	c.(1102-1104)Ctg>Atg	p.L368M	FKBP8_ENST00000222308.4_Missense_Mutation_p.L368M|FKBP8_ENST00000608443.1_Missense_Mutation_p.L369M|FKBP8_ENST00000597960.3_Missense_Mutation_p.L369M|AC005387.3_ENST00000597837.2_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.L397M|FKBP8_ENST00000610101.1_Missense_Mutation_p.L209M|AC005387.2_ENST00000596596.1_RNA			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	368					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGTTGCCCAGCATTTTCCGG	0.647																																																	0													41.0	38.0	39.0					19																	18643524		2203	4300	6503	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.1102C>A	19.37:g.18643524G>T	ENSP00000472302:p.Leu368Met		C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.L397M	ENST00000596558.2	37	c.1189		19	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358910	0.82353	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.42131	0.98;1.7;1.24	5.24	4.21	0.49690	.	0.000000	0.64402	D	0.000005	T	0.45935	0.1367	N	0.14661	0.345	0.58432	D	0.999999	D;D;P;P	0.71674	0.998;0.989;0.907;0.936	D;P;P;P	0.83275	0.996;0.849;0.622;0.725	T	0.49133	-0.8971	10	0.51188	T	0.08	-14.0994	12.6322	0.56663	0.0814:0.0:0.9186:0.0	.	397;312;368;369	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	M	369;209;397	ENSP00000222308:L369M;ENSP00000441267:L209M;ENSP00000388891:L397M	ENSP00000222308:L369M	L	-	1	2	FKBP8	18504524	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.841000	0.69409	1.215000	0.43411	0.655000	0.94253	CTG	FKBP8	-	NULL		0.647	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	G	NM_012181		18643524	-1	no_errors	ENST00000453489	ensembl	human	known	70_37	missense	SNP	1.000	T
FRAS1	80144	genome.wustl.edu	37	4	79368028	79368028	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:79368028G>A	ENST00000264895.6	+	43	6444	c.6004G>A	c.(6004-6006)Gac>Aac	p.D2002N		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2002					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAAAAAGCCTGACCACGGTAG	0.428																																																	0													43.0	44.0	44.0					4																	79368028		1908	4112	6020	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.6004G>A	4.37:g.79368028G>A	ENSP00000264895:p.Asp2002Asn		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.D2002N	ENST00000264895.6	37	c.6004	CCDS54771.1	4	.	.	.	.	.	.	.	.	.	.	G	6.055	0.378482	0.11466	.	.	ENSG00000138759	ENST00000264895	T	0.29142	1.58	5.57	2.88	0.33553	.	0.571931	0.19685	N	0.108402	T	0.16811	0.0404	L	0.38531	1.155	0.80722	D	1	P	0.40000	0.698	B	0.35550	0.205	T	0.10451	-1.0629	10	0.22109	T	0.4	.	2.1876	0.03891	0.2131:0.1347:0.513:0.1392	.	2002	E9PHH6	.	N	2002	ENSP00000264895:D2002N	ENSP00000264895:D2002N	D	+	1	0	FRAS1	79587052	0.016000	0.18221	0.985000	0.45067	0.078000	0.17371	0.893000	0.28336	0.294000	0.22547	0.650000	0.86243	GAC	FRAS1	-	NULL		0.428	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79368028	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.971	A
FZD4	8322	genome.wustl.edu	37	11	86665891	86665891	+	Silent	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:86665891C>G	ENST00000531380.1	-	1	542	c.237G>C	c.(235-237)ctG>ctC	p.L79L	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	79	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGAAAGTTGTCAGCTGCAGCT	0.662																																																	0													34.0	32.0	33.0					11																	86665891		2201	4299	6500	SO:0001819	synonymous_variant	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.237G>C	11.37:g.86665891C>G			A8K9Q3|Q14C97|Q6S9E4	Silent	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.L79	ENST00000531380.1	37	c.237	CCDS8279.1	11																																																																																			FZD4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.662	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	C	NM_012193		86665891	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	silent	SNP	1.000	G
GGH	8836	genome.wustl.edu	37	8	63939811	63939811	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:63939811C>T	ENST00000260118.6	-	4	691	c.289G>A	c.(289-291)Gga>Aga	p.G97R	GGH_ENST00000518113.1_5'UTR|RP11-659E9.4_ENST00000521556.1_RNA	NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	97	Gamma-glutamyl hydrolase. {ECO:0000255|PROSITE-ProRule:PRU00607}.				glutamine metabolic process (GO:0006541)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to insulin (GO:0032868)|response to zinc ion (GO:0010043)	cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|nucleus (GO:0005634)	exopeptidase activity (GO:0008238)|gamma-glutamyl-peptidase activity (GO:0034722)|omega peptidase activity (GO:0008242)			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|Methotrexate(DB00563)	ACACTTCCTCCAGGGAAAAGG	0.353																																																	0													111.0	112.0	112.0					8																	63939811		2203	4300	6503	SO:0001583	missense	8836			U55206	CCDS6177.1	8q12.3	2008-02-05			ENSG00000137563	ENSG00000137563	3.4.19.9		4248	protein-coding gene	gene with protein product		601509				8816764, 10570974	Standard	NM_003878		Approved		uc003xuw.3	Q92820	OTTHUMG00000164365	ENST00000260118.6:c.289G>A	8.37:g.63939811C>T	ENSP00000260118:p.Gly97Arg			Missense_Mutation	SNP	pfam_Peptidase_C26,pfam_GATASE_1	p.G97R	ENST00000260118.6	37	c.289	CCDS6177.1	8	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033836	0.93575	.	.	ENSG00000137563	ENST00000260118;ENST00000517622	D	0.87256	-2.23	6.01	6.01	0.97437	.	0.045450	0.85682	D	0.000000	D	0.95881	0.8659	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96420	0.9311	10	0.87932	D	0	-28.8326	19.2926	0.94108	0.0:1.0:0.0:0.0	.	97	Q92820	GGH_HUMAN	R	97;58	ENSP00000260118:G97R	ENSP00000260118:G97R	G	-	1	0	GGH	64102365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.163000	0.71880	2.861000	0.98227	0.650000	0.86243	GGA	GGH	-	pfam_Peptidase_C26,pfam_GATASE_1		0.353	GGH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGH	HGNC	protein_coding	OTTHUMT00000378453.1	C			63939811	-1	no_errors	ENST00000260118	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR137B	7107	genome.wustl.edu	37	1	236341882	236341882	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:236341882C>G	ENST00000366592.3	+	3	724	c.633C>G	c.(631-633)atC>atG	p.I211M	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	211						integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|membrane (GO:0016020)				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CTCTCTCCATCTGTCTCTACA	0.473																																																	0													231.0	204.0	213.0					1																	236341882		2203	4300	6503	SO:0001583	missense	7107			AF027826	CCDS1609.1	1q42-q43	2012-08-10	2006-01-26	2006-01-26	ENSG00000077585	ENSG00000077585			11862	protein-coding gene	gene with protein product		604658	"""transmembrane 7 superfamily member 1 (upregulated in kidney)"""	TM7SF1		9521871	Standard	NM_003272		Approved		uc001hxq.3	O60478	OTTHUMG00000037994	ENST00000366592.3:c.633C>G	1.37:g.236341882C>G	ENSP00000355551:p.Ile211Met		Q53EK7|Q5TAE6|Q6FHI3	Missense_Mutation	SNP	NULL	p.I211M	ENST00000366592.3	37	c.633	CCDS1609.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.46|13.46	2.243137|2.243137	0.39697|0.39697	.|.	.|.	ENSG00000077585|ENSG00000077585	ENST00000366592;ENST00000391852|ENST00000454895	T|.	0.47528|.	0.84|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.376671|.	0.30658|.	N|.	0.009154|.	T|T	0.57489|0.57489	0.2057|0.2057	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	P|.	0.36909|.	0.573|.	B|.	0.39339|.	0.297|.	T|T	0.54846|0.54846	-0.8232|-0.8232	10|5	0.37606|.	T|.	0.19|.	-21.2276|-21.2276	9.0351|9.0351	0.36282|0.36282	0.1479:0.7786:0.0:0.0735|0.1479:0.7786:0.0:0.0735	.|.	211|.	O60478|.	G137B_HUMAN|.	M|C	211;210|75	ENSP00000355551:I211M|.	ENSP00000355551:I211M|.	I|S	+|+	3|2	3|0	GPR137B|GPR137B	234408505|234408505	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	2.408000|2.408000	0.44574|0.44574	2.685000|2.685000	0.91497|0.91497	0.561000|0.561000	0.74099|0.74099	ATC|TCT	GPR137B	-	NULL		0.473	GPR137B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR137B	HGNC	protein_coding	OTTHUMT00000092761.1	C	NM_003272		236341882	+1	no_errors	ENST00000366592	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR156	165829	genome.wustl.edu	37	3	119886955	119886955	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:119886955C>G	ENST00000464295.1	-	10	1814	c.1369G>C	c.(1369-1371)Gag>Cag	p.E457Q	GPR156_ENST00000315843.3_Missense_Mutation_p.E457Q|GPR156_ENST00000461057.1_Missense_Mutation_p.E453Q			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	457						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled GABA receptor activity (GO:0004965)			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		CCAGGCCCCTCAAGGCTTTGT	0.537																																																	0													40.0	42.0	41.0					3																	119886955		2203	4300	6503	SO:0001583	missense	165829			AF488739	CCDS2997.1, CCDS54629.1	3q13.33	2012-08-21			ENSG00000175697	ENSG00000175697		"""GPCR / Class C : Orphans"""	20844	protein-coding gene	gene with protein product		610464				12591167	Standard	NM_153002		Approved	PGR28, GABABL	uc011bjf.2	Q8NFN8	OTTHUMG00000159406	ENST00000464295.1:c.1369G>C	3.37:g.119886955C>G	ENSP00000417261:p.Glu457Gln		B7ZL66|E9PFZ4|Q14CM1|Q86SN6	Missense_Mutation	SNP	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B	p.E457Q	ENST00000464295.1	37	c.1369	CCDS2997.1	3	.	.	.	.	.	.	.	.	.	.	C	9.492	1.100885	0.20552	.	.	ENSG00000175697	ENST00000464295;ENST00000315843;ENST00000461057	T;T;T	0.21543	2.0;2.0;2.0	5.65	-3.95	0.04118	.	1.265410	0.04986	N	0.466526	T	0.14743	0.0356	L	0.36672	1.1	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.32107	-0.9919	9	.	.	.	0.481	7.1605	0.25661	0.0:0.2551:0.3215:0.4234	.	453;457	E9PFZ4;Q8NFN8	.;GP156_HUMAN	Q	457;457;453	ENSP00000417261:E457Q;ENSP00000324553:E457Q;ENSP00000418758:E453Q	.	E	-	1	0	GPR156	121369645	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-2.651000	0.00857	-0.613000	0.05694	-0.136000	0.14681	GAG	GPR156	-	NULL		0.537	GPR156-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR156	HGNC	protein_coding	OTTHUMT00000355139.1	C	NM_153002		119886955	-1	no_errors	ENST00000315843	ensembl	human	known	70_37	missense	SNP	0.000	G
GPR176	11245	genome.wustl.edu	37	15	40093815	40093815	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:40093815C>T	ENST00000561100.1	-	3	1931	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	RP11-37C7.1_ENST00000558616.1_RNA|GPR176_ENST00000560729.1_5'Flank|GPR176_ENST00000543580.1_Missense_Mutation_p.E311K|GPR176_ENST00000299092.3_Missense_Mutation_p.E355K	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	356					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		AGGCTGGCCTCAGCCATGCCA	0.557																																																	0													102.0	92.0	95.0					15																	40093815		2203	4300	6503	SO:0001583	missense	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.1066G>A	15.37:g.40093815C>T	ENSP00000453076:p.Glu356Lys		Q6NXF6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.E356K	ENST00000561100.1	37	c.1066	CCDS10051.1	15	.	.	.	.	.	.	.	.	.	.	C	16.30	3.083991	0.55861	.	.	ENSG00000166073	ENST00000299092;ENST00000543580	T	0.79352	-1.26	6.17	6.17	0.99709	.	0.211787	0.49305	D	0.000154	T	0.70439	0.3224	L	0.29908	0.895	0.58432	D	0.999999	B	0.15719	0.014	B	0.15484	0.013	T	0.61922	-0.6963	10	0.21540	T	0.41	-1.4119	20.8794	0.99867	0.0:1.0:0.0:0.0	.	356	Q14439	GP176_HUMAN	K	356;311	ENSP00000439361:E311K	ENSP00000299092:E356K	E	-	1	0	GPR176	37881107	0.994000	0.37717	0.460000	0.27093	0.384000	0.30261	3.473000	0.53122	2.941000	0.99782	0.655000	0.94253	GAG	GPR176	-	NULL		0.557	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	C	NM_007223		40093815	-1	no_errors	ENST00000561100	ensembl	human	known	70_37	missense	SNP	0.983	T
GPR20	2843	genome.wustl.edu	37	8	142367298	142367298	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:142367298G>A	ENST00000377741.3	-	2	816	c.726C>T	c.(724-726)ctC>ctT	p.L242L	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	242					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCGTGAGCAGGAGCTGCATGG	0.667																																																	0													20.0	17.0	18.0					8																	142367298		2191	4291	6482	SO:0001819	synonymous_variant	2843			U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.726C>T	8.37:g.142367298G>A			Q17R96	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L242	ENST00000377741.3	37	c.726	CCDS34949.1	8																																																																																			GPR20	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.667	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR20	HGNC	protein_coding	OTTHUMT00000378968.1	G	NM_005293		142367298	-1	no_errors	ENST00000377741	ensembl	human	known	70_37	silent	SNP	0.970	A
GSN	2934	genome.wustl.edu	37	9	124091306	124091306	+	Intron	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:124091306G>A	ENST00000373818.4	+	14	2109				GSN_ENST00000545652.1_Intron|GSN_ENST00000373806.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000412819.1_Intron|GSN_ENST00000373807.1_Intron|GSN_ENST00000394353.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin						actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						GAGCCCCTGCGGAGGTCACAC	0.602																																																	0													63.0	52.0	56.0					9																	124091306		2203	4300	6503	SO:0001627	intron_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.2040+13G>A	9.37:g.124091306G>A			A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	RNA	SNP	-	NULL	ENST00000373818.4	37	NULL	CCDS6828.1	9																																																																																			GSN	-	-		0.602	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	G	NM_000177		124091306	+1	no_errors	ENST00000477553	ensembl	human	putative	70_37	rna	SNP	0.000	A
GTF3C2	2976	genome.wustl.edu	37	2	27565900	27565900	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:27565900G>T	ENST00000359541.2	-	3	791	c.362C>A	c.(361-363)tCa>tAa	p.S121*	AC109828.1_ENST00000588707.1_RNA|GTF3C2_ENST00000264720.3_Nonsense_Mutation_p.S121*|AC109828.1_ENST00000589853.1_RNA|AC109828.1_ENST00000590383.1_RNA|AC109828.1_ENST00000589232.1_RNA			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	121					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAGTGGGGCTGATGGAGGATT	0.557																																																	0													100.0	95.0	96.0					2																	27565900		2203	4300	6503	SO:0001587	stop_gained	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.362C>A	2.37:g.27565900G>T	ENSP00000352536:p.Ser121*		D6W557|Q16632|Q9BWI7	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S121*	ENST00000359541.2	37	c.362	CCDS1749.1	2	.	.	.	.	.	.	.	.	.	.	G	32	5.147701	0.94603	.	.	ENSG00000115207	ENST00000359541;ENST00000264720;ENST00000457748	.	.	.	5.31	5.31	0.75309	.	0.800879	0.11146	N	0.594675	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	0.0874	14.351	0.66702	0.0:0.0:1.0:0.0	.	.	.	.	X	121	.	ENSP00000264720:S121X	S	-	2	0	GTF3C2	27419404	0.933000	0.31639	0.915000	0.36163	0.998000	0.95712	3.101000	0.50283	2.763000	0.94921	0.563000	0.77884	TCA	GTF3C2	-	NULL		0.557	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	G			27565900	-1	no_errors	ENST00000264720	ensembl	human	known	70_37	nonsense	SNP	0.958	T
GTF3C5	9328	genome.wustl.edu	37	9	135931307	135931307	+	Intron	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:135931307G>C	ENST00000372097.5	+	9	1490				GTF3C5_ENST00000372099.6_Intron|GTF3C5_ENST00000342018.8_Intron|GTF3C5_ENST00000372108.5_Intron	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa						5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		GCTCCCTGGAGAGACCCCATG	0.612																																																	0																																										SO:0001627	intron_variant	9328			AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.1168-92G>C	9.37:g.135931307G>C			A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	RNA	SNP	-	NULL	ENST00000372097.5	37	NULL	CCDS6958.1	9																																																																																			GTF3C5	-	-		0.612	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C5	HGNC	protein_coding	OTTHUMT00000054826.1	G	NM_001122823		135931307	+1	no_errors	ENST00000489842	ensembl	human	known	70_37	rna	SNP	0.000	C
HTR1F	3355	genome.wustl.edu	37	3	88040735	88040735	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:88040735G>A	ENST00000319595.4	+	1	890	c.836G>A	c.(835-837)aGa>aAa	p.R279K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	279					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Ketamine(DB01221)|Methysergide(DB00247)|Mianserin(DB06148)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	AAATCTTGGAGAAGGCAAAAG	0.388																																																	0													68.0	74.0	72.0					3																	88040735		2203	4300	6503	SO:0001583	missense	3355			L05597	CCDS2920.1	3p12	2012-08-08	2012-02-03		ENSG00000179097	ENSG00000179097		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5292	protein-coding gene	gene with protein product		182134	"""5-hydroxytryptamine (serotonin) receptor 1F"""			8384716, 8380639	Standard	NM_000866		Approved	HTR1EL, 5-HT1F	uc003dqr.2	P30939	OTTHUMG00000159008	ENST00000319595.4:c.836G>A	3.37:g.88040735G>A	ENSP00000322924:p.Arg279Lys			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.R279K	ENST00000319595.4	37	c.836	CCDS2920.1	3	.	.	.	.	.	.	.	.	.	.	G	13.60	2.284451	0.40394	.	.	ENSG00000179097	ENST00000319595	T	0.35605	1.3	5.46	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.337940	0.30771	N	0.008907	T	0.18425	0.0442	N	0.12637	0.245	0.32463	N	0.543866	B	0.06786	0.001	B	0.11329	0.006	T	0.18524	-1.0334	10	0.16420	T	0.52	.	9.359	0.38184	0.1728:0.0:0.8272:0.0	.	279	P30939	5HT1F_HUMAN	K	279	ENSP00000322924:R279K	ENSP00000322924:R279K	R	+	2	0	HTR1F	88123425	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.763000	0.62257	1.316000	0.45131	0.557000	0.71058	AGA	HTR1F	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1F_rcpt		0.388	HTR1F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR1F	HGNC	protein_coding	OTTHUMT00000352890.1	G	NM_000866		88040735	+1	no_errors	ENST00000319595	ensembl	human	known	70_37	missense	SNP	1.000	A
HTT	3064	genome.wustl.edu	37	4	3136143	3136143	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:3136143C>G	ENST00000355072.5	+	19	2654	c.2509C>G	c.(2509-2511)Ctc>Gtc	p.L837V		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	837					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TGTCATGAGTCTCTGCAGCAG	0.522																																																	0													165.0	155.0	158.0					4																	3136143		2097	4255	6352	SO:0001583	missense	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.2509C>G	4.37:g.3136143C>G	ENSP00000347184:p.Leu837Val		Q9UQB7	Missense_Mutation	SNP	pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin	p.L837V	ENST00000355072.5	37	c.2509	CCDS43206.1	4	.	.	.	.	.	.	.	.	.	.	C	12.66	2.004527	0.35320	.	.	ENSG00000197386	ENST00000355072	T	0.64260	-0.09	5.0	3.9	0.45041	Armadillo-like helical (1);Armadillo-type fold (1);	0.079119	0.49305	D	0.000151	T	0.53514	0.1801	L	0.61387	1.9	0.48975	D	0.999731	B	0.28378	0.209	B	0.22152	0.038	T	0.59947	-0.7358	10	0.72032	D	0.01	.	6.5728	0.22549	0.0:0.7777:0.0:0.2223	.	837	P42858	HD_HUMAN	V	837	ENSP00000347184:L837V	ENSP00000347184:L837V	L	+	1	0	HTT	3105941	0.990000	0.36364	0.233000	0.24025	0.965000	0.64279	1.440000	0.35024	2.463000	0.83235	0.585000	0.79938	CTC	HTT	-	superfamily_ARM-type_fold		0.522	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTT	HGNC	protein_coding	OTTHUMT00000358234.2	C	NM_002111		3136143	+1	no_errors	ENST00000355072	ensembl	human	known	70_37	missense	SNP	0.969	G
IFNGR1	3459	genome.wustl.edu	37	6	137519721	137519721	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:137519721G>C	ENST00000367739.4	-	7	1038	c.917C>G	c.(916-918)tCa>tGa	p.S306*	IFNGR1_ENST00000543628.1_Nonsense_Mutation_p.S278*	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	306					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	CGTGATGAGTGATACATATTT	0.388																																																	0													66.0	61.0	63.0					6																	137519721		2203	4300	6503	SO:0001587	stop_gained	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.917C>G	6.37:g.137519721G>C	ENSP00000356713:p.Ser306*		B4DFT7|E1P587|Q53Y96	Nonsense_Mutation	SNP	pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu	p.S306*	ENST00000367739.4	37	c.917	CCDS5185.1	6	.	.	.	.	.	.	.	.	.	.	G	25.8	4.670636	0.88348	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	.	.	.	6.06	5.19	0.71726	.	2.485370	0.01475	N	0.016456	.	.	.	.	.	.	0.52501	D	0.999952	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.0281	11.0557	0.47915	0.0844:0.0:0.9156:0.0	.	.	.	.	X	306;278	.	ENSP00000356713:S306X	S	-	2	0	IFNGR1	137561414	0.433000	0.25562	0.050000	0.19076	0.241000	0.25554	2.466000	0.45084	1.569000	0.49696	0.655000	0.94253	TCA	IFNGR1	-	pfam_Interferon_gamma_pox/mammal		0.388	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNGR1	HGNC	protein_coding	OTTHUMT00000042401.1	G			137519721	-1	no_errors	ENST00000367739	ensembl	human	known	70_37	nonsense	SNP	0.199	C
IMMP2L	83943	genome.wustl.edu	37	7	110526718	110526718	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:110526718G>A	ENST00000405709.2	-	5	781	c.339C>T	c.(337-339)gtC>gtT	p.V113V	IMMP2L_ENST00000415362.1_Silent_p.V113V|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Silent_p.V113V|IMMP2L_ENST00000450877.1_Silent_p.V95V|IMMP2L_ENST00000452895.1_Silent_p.V113V	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	113					ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|protein processing involved in protein targeting to mitochondrion (GO:0006627)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|mitochondrial inner membrane peptidase complex (GO:0042720)	peptidase activity (GO:0008233)|serine-type peptidase activity (GO:0008236)			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		GACCACGGGGGACTTTGACAT	0.413																																																	0													131.0	121.0	125.0					7																	110526718		2203	4300	6503	SO:0001819	synonymous_variant	83943			AF359563	CCDS5753.1	7q31	2014-01-06	2005-08-17		ENSG00000184903	ENSG00000184903			14598	protein-coding gene	gene with protein product		605977	"""IMP2 inner mitochondrial membrane protease-like (S. cerevisiae)"", ""IMMP2L intronic transcript 1 (non-protein coding)"""	IMMP2L-IT1		11254443	Standard	NM_032549		Approved	IMP2	uc010ljr.2	Q96T52	OTTHUMG00000155023	ENST00000405709.2:c.339C>T	7.37:g.110526718G>A			Q75MF1|Q75MN9|Q75MP0|Q75MS5|Q75MS8|Q96HJ2	Silent	SNP	pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1,tigrfam_Pept_S26A_signal_pept_1	p.V113	ENST00000405709.2	37	c.339	CCDS5753.1	7																																																																																			IMMP2L	-	superfamily_Peptidase_S24_S26A/B/C,prints_Pept_S26A_signal_pept_1		0.413	IMMP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMMP2L	HGNC	protein_coding	OTTHUMT00000338109.4	G	NM_032549		110526718	-1	no_errors	ENST00000331762	ensembl	human	known	70_37	silent	SNP	0.921	A
IQGAP1	8826	genome.wustl.edu	37	15	90992855	90992855	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:90992855C>T	ENST00000268182.5	+	11	1266	c.1142C>T	c.(1141-1143)gCt>gTt	p.A381V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	381					cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACAGTGCTGCCCAGCAA	0.458																																																	0													84.0	82.0	83.0					15																	90992855		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.1142C>T	15.37:g.90992855C>T	ENSP00000268182:p.Ala381Val		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.A381V	ENST00000268182.5	37	c.1142	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783087	0.31593	.	.	ENSG00000140575	ENST00000268182	T	0.05717	3.4	4.94	3.99	0.46301	.	0.355002	0.29861	N	0.011016	T	0.07234	0.0183	L	0.40543	1.245	0.42859	D	0.994105	B	0.06786	0.001	B	0.06405	0.002	T	0.18178	-1.0345	10	0.37606	T	0.19	-2.9433	14.2273	0.65868	0.0:0.8497:0.1503:0.0	.	381	P46940	IQGA1_HUMAN	V	381	ENSP00000268182:A381V	ENSP00000268182:A381V	A	+	2	0	IQGAP1	88793859	0.666000	0.27475	0.117000	0.21633	0.898000	0.52572	2.610000	0.46325	1.248000	0.43934	0.557000	0.71058	GCT	IQGAP1	-	NULL		0.458	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	C	NM_003870		90992855	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	0.369	T
ITGA7	3679	genome.wustl.edu	37	12	56094855	56094855	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:56094855G>A	ENST00000555728.1	-	4	526	c.498C>T	c.(496-498)ctC>ctT	p.L166L	ITGA7_ENST00000553804.1_Silent_p.L166L|ITGA7_ENST00000394230.2_Silent_p.L166L|ITGA7_ENST00000347027.6_Silent_p.L166L|ITGA7_ENST00000257880.7_Silent_p.L166L|ITGA7_ENST00000452168.2_Silent_p.L69L|ITGA7_ENST00000394229.2_Silent_p.L166L|ITGA7_ENST00000257879.6_Silent_p.L166L			Q13683	ITA7_HUMAN	integrin, alpha 7	166					blood vessel morphogenesis (GO:0048514)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|muscle organ development (GO:0007517)|regulation of cell shape (GO:0008360)|skeletal muscle tissue development (GO:0007519)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integrin alpha7-beta1 complex (GO:0034677)|muscle tendon junction (GO:0005927)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGTCCTGGCTGAGCACAAAGC	0.587																																																	0													121.0	106.0	111.0					12																	56094855		2203	4300	6503	SO:0001819	synonymous_variant	3679				CCDS8888.1, CCDS44914.1, CCDS55832.1	12q13	2014-09-17				ENSG00000135424		"""Integrins"""	6143	protein-coding gene	gene with protein product		600536				7607681	Standard	NM_002206		Approved		uc001shh.3	Q13683		ENST00000555728.1:c.498C>T	12.37:g.56094855G>A			B4E3U0|C9JMD3|C9JMZ6|O43197|Q86W93|Q9NY89|Q9UET0|Q9UEV2	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.L166	ENST00000555728.1	37	c.498		12																																																																																			ITGA7	-	NULL		0.587	ITGA7-014	KNOWN	basic	protein_coding	ITGA7	HGNC	protein_coding	OTTHUMT00000410138.1	G	NM_002206		56094855	-1	no_errors	ENST00000555728	ensembl	human	known	70_37	silent	SNP	0.627	A
KRT17	3872	genome.wustl.edu	37	17	39777876	39777876	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:39777876C>T	ENST00000311208.8	-	4	870	c.803G>A	c.(802-804)cGc>cAc	p.R268H	JUP_ENST00000540235.1_Missense_Mutation_p.R427H	NM_000422.2	NP_000413.1	Q04695	K1C17_HUMAN	keratin 17	268	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinization (GO:0031424)|morphogenesis of an epithelium (GO:0002009)|positive regulation of cell growth (GO:0030307)|positive regulation of hair follicle development (GO:0051798)|positive regulation of translation (GO:0045727)|signal transduction (GO:0007165)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	MHC class II protein binding (GO:0042289)|MHC class II receptor activity (GO:0032395)|structural constituent of cytoskeleton (GO:0005200)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGCATCCTTGCGGTTCTTCTC	0.592																																					Pancreas(92;1242 2086 39193 50508)												0													111.0	99.0	103.0					17																	39777876		2203	4298	6501	SO:0001583	missense	3728			X62571	CCDS11402.1	17q21.2	2014-06-12			ENSG00000128422	ENSG00000128422		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6427	protein-coding gene	gene with protein product		148069		PCHC1		7539673, 1281771, 16831889	Standard	NM_000422		Approved		uc002hxh.2	Q04695	OTTHUMG00000133505	ENST00000311208.8:c.803G>A	17.37:g.39777876C>T	ENSP00000308452:p.Arg268His		A5Z1M9|A5Z1N0|A5Z1N1|A5Z1N2|A6NDV6|A6NKQ2|Q6IP98|Q8N1P6	Missense_Mutation	SNP	pfam_F,pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo,pfscan_Armadillo,prints_Keratin_I,prints_Beta-catenin	p.R427H	ENST00000311208.8	37	c.1280	CCDS11402.1	17	.	.	.	.	.	.	.	.	.	.	C	19.22	3.786003	0.70337	.	.	ENSG00000128422;ENSG00000173801	ENST00000311208;ENST00000540235	D;D	0.90004	-2.6;-2.6	3.82	2.85	0.33270	Prefoldin (1);Filament (1);	0.000000	0.47852	D	0.000202	D	0.91164	0.7217	M	0.89968	3.075	0.27673	N	0.946698	P	0.35821	0.523	B	0.40940	0.344	D	0.86801	0.1992	10	0.72032	D	0.01	.	11.6609	0.51345	0.0:0.9126:0.0:0.0874	.	268	Q04695	K1C17_HUMAN	H	268;427	ENSP00000308452:R268H;ENSP00000441751:R427H	ENSP00000441751:R427H	R	-	2	0	JUP;KRT17	37031402	0.749000	0.28305	1.000000	0.80357	0.997000	0.91878	1.421000	0.34815	0.960000	0.38005	0.655000	0.94253	CGC	JUP	-	pfam_F,superfamily_Prefoldin		0.592	KRT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JUP	HGNC	protein_coding	OTTHUMT00000257460.1	C	NM_000422		39777876	-1	no_errors	ENST00000540235	ensembl	human	known	70_37	missense	SNP	0.998	T
KCNAB1	7881	genome.wustl.edu	37	3	156192551	156192551	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:156192551G>A	ENST00000490337.1	+	8	664	c.600G>A	c.(598-600)caG>caA	p.Q200Q	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000389634.5_Intron|KCNAB1_ENST00000302490.8_Silent_p.Q182Q|KCNAB1_ENST00000471742.1_Silent_p.Q189Q|KCNAB1_ENST00000497291.1_3'UTR	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	200					learning or memory (GO:0007611)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGAGGCTGCAGCTCGAGTATG	0.428																																																	0													116.0	119.0	118.0					3																	156192551		2203	4300	6503	SO:0001819	synonymous_variant	7881			U33428	CCDS3174.1, CCDS3175.1, CCDS33882.1	3q26.1	2006-11-29			ENSG00000169282	ENSG00000169282		"""Potassium channels"", ""Aldo-keto reductases"""	6228	protein-coding gene	gene with protein product		601141				8838324, 7499366	Standard	NM_172160		Approved	AKR6A3, KCNA1B, hKvBeta3, Kvb1.3, hKvb3	uc003far.2	Q14722	OTTHUMG00000158552	ENST00000490337.1:c.600G>A	3.37:g.156192551G>A			A8K9H8|A8KAD4|B3KPZ4|Q13031|Q13302|Q16547|Q6PI60|Q99869	Silent	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.Q200	ENST00000490337.1	37	c.600	CCDS3174.1	3																																																																																			KCNAB1	-	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,tigrfam_K_chnl_volt-dep_bsu_KCNAB		0.428	KCNAB1-002	KNOWN	basic|CCDS	protein_coding	KCNAB1	HGNC	protein_coding	OTTHUMT00000351411.1	G	NM_003471		156192551	+1	no_errors	ENST00000490337	ensembl	human	known	70_37	silent	SNP	1.000	A
KIAA1033	23325	genome.wustl.edu	37	12	105558478	105558478	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:105558478G>A	ENST00000332180.5	+	32	3501	c.3414G>A	c.(3412-3414)aaG>aaA	p.K1138K	KIAA1033_ENST00000547171.1_3'UTR	NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GAGCAGACAAGACTGCGGCTG	0.323																																																	0													25.0	25.0	25.0					12																	105558478		1804	4066	5870	SO:0001819	synonymous_variant	23325			AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.3414G>A	12.37:g.105558478G>A				Silent	SNP	NULL	p.K1138	ENST00000332180.5	37	c.3414	CCDS41826.1	12																																																																																			KIAA1033	-	NULL		0.323	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1033	HGNC	protein_coding	OTTHUMT00000406138.4	G	NM_015275		105558478	+1	no_errors	ENST00000332180	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF12	113220	genome.wustl.edu	37	9	116854235	116854235	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:116854235C>T	ENST00000374118.3	-	16	1685	c.1448G>A	c.(1447-1449)aGa>aAa	p.R483K	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	616	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AATCTGGTCTCTGAGGGCCTC	0.677																																																	0													33.0	35.0	34.0					9																	116854235		2203	4300	6503	SO:0001583	missense	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1448G>A	9.37:g.116854235C>T	ENSP00000363232:p.Arg483Lys		Q5TBE0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R616K	ENST00000374118.3	37	c.1847	CCDS6801.1	9	.	.	.	.	.	.	.	.	.	.	C	15.26	2.780371	0.49891	.	.	ENSG00000136883	ENST00000374118;ENST00000259410	T	0.73789	-0.78	3.86	1.93	0.25924	.	0.302757	0.28700	N	0.014434	T	0.54615	0.1869	L	0.29908	0.895	0.22280	N	0.999236	B	0.29766	0.256	B	0.24269	0.052	T	0.37798	-0.9690	10	0.30854	T	0.27	.	5.4732	0.16682	0.0:0.6718:0.2134:0.1148	.	616	Q96FN5	KIF12_HUMAN	K	483;616	ENSP00000363232:R483K	ENSP00000259410:R616K	R	-	2	0	KIF12	115894056	0.998000	0.40836	0.999000	0.59377	0.981000	0.71138	0.468000	0.22051	0.565000	0.29255	0.442000	0.29010	AGA	KIF12	-	NULL		0.677	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	C	NM_138424		116854235	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF26B	55083	genome.wustl.edu	37	1	245850144	245850144	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:245850144G>A	ENST00000407071.2	+	12	4299	c.3859G>A	c.(3859-3861)Gcg>Acg	p.A1287T	KIF26B_ENST00000366518.4_Missense_Mutation_p.A906T	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	1287					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CGAGATGAGCGCGGGCAGTGA	0.607																																																	0													35.0	42.0	40.0					1																	245850144		2128	4225	6353	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.3859G>A	1.37:g.245850144G>A	ENSP00000385545:p.Ala1287Thr		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A1287T	ENST00000407071.2	37	c.3859	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	1.403	-0.577653	0.03854	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.76316	-1.01;-1.01	5.92	-1.74	0.08056	.	.	.	.	.	T	0.54143	0.1840	N	0.05230	-0.09	0.20403	N	0.999907	B;B	0.09022	0.002;0.002	B;B	0.04013	0.001;0.0	T	0.34850	-0.9812	9	0.21540	T	0.41	.	11.0949	0.48139	0.5299:0.0:0.4701:0.0	.	906;1287	B7WPD9;Q2KJY2	.;KI26B_HUMAN	T	1287;906;903	ENSP00000385545:A1287T;ENSP00000355475:A906T	ENSP00000355475:A906T	A	+	1	0	KIF26B	243916767	0.359000	0.24955	0.108000	0.21378	0.098000	0.18820	0.551000	0.23361	-0.262000	0.09392	0.561000	0.74099	GCG	KIF26B	-	NULL		0.607	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245850144	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	0.612	A
KIFC2	90990	genome.wustl.edu	37	8	145698053	145698053	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:145698053C>T	ENST00000301332.2	+	16	2202	c.1825C>T	c.(1825-1827)Cgc>Tgc	p.R609C	KIFC2_ENST00000301331.5_Intron|FOXH1_ENST00000525197.1_5'Flank|KIFC2_ENST00000531423.1_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	609	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCTGACGCTGCGCGCGGCGTC	0.721																																																	0													11.0	14.0	13.0					8																	145698053		2170	4233	6403	SO:0001583	missense	90990			AY007121	CCDS6427.1	8q24.3	2007-02-13			ENSG00000167702	ENSG00000167702		"""Kinesins"""	29530	protein-coding gene	gene with protein product						9115737	Standard	NM_145754		Approved		uc003zcz.3	Q96AC6	OTTHUMG00000165133	ENST00000301332.2:c.1825C>T	8.37:g.145698053C>T	ENSP00000301332:p.Arg609Cys		E9PHB2|Q96NN6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom	p.R609C	ENST00000301332.2	37	c.1825	CCDS6427.1	8	.	.	.	.	.	.	.	.	.	.	C	17.01	3.280087	0.59758	.	.	ENSG00000167702	ENST00000301332	T	0.75704	-0.96	5.02	-0.912	0.10504	Kinesin, motor domain (4);	0.236201	0.22093	N	0.064725	T	0.72479	0.3465	L	0.42245	1.32	0.09310	N	0.999993	D	0.71674	0.998	D	0.65773	0.938	T	0.61559	-0.7038	10	0.72032	D	0.01	-0.9193	1.6185	0.02708	0.1964:0.4385:0.1111:0.254	.	609	Q96AC6	KIFC2_HUMAN	C	609	ENSP00000301332:R609C	ENSP00000301332:R609C	R	+	1	0	KIFC2	145668861	0.025000	0.19082	0.007000	0.13788	0.714000	0.41099	0.485000	0.22324	-0.066000	0.12998	0.591000	0.81541	CGC	KIFC2	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.721	KIFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIFC2	HGNC	protein_coding	OTTHUMT00000382052.2	C	NM_145754		145698053	+1	no_errors	ENST00000301332	ensembl	human	known	70_37	missense	SNP	0.000	T
KLHL15	80311	genome.wustl.edu	37	X	24024244	24024244	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:24024244C>T	ENST00000328046.8	-	3	822	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	189	BACK.				protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GGAACCTGCTCAGATGATCAT	0.473																																																	0													153.0	135.0	141.0					X																	24024244		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.567G>A	X.37:g.24024244C>T			Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L189	ENST00000328046.8	37	c.567	CCDS35217.1	X																																																																																			KLHL15	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.473	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	C	XM_040383		24024244	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	silent	SNP	1.000	T
LEPR	3953	genome.wustl.edu	37	1	66058453	66058453	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:66058453C>G	ENST00000349533.6	+	6	793	c.608C>G	c.(607-609)gCc>gGc	p.A203G	LEPR_ENST00000344610.8_Missense_Mutation_p.A203G|LEPR_ENST00000371059.3_Missense_Mutation_p.A203G|LEPR_ENST00000371060.3_Missense_Mutation_p.A203G|LEPR_ENST00000371058.1_Missense_Mutation_p.A203G|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR	NM_002303.5	NP_002294.2	O15243	OBRG_HUMAN	leptin receptor	0					negative regulation of growth hormone receptor signaling pathway (GO:0060400)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of protein localization to cell surface (GO:2000009)	endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GTGCCAACAGCCAAACTCAAC	0.428																																																	0													147.0	134.0	138.0					1																	66058453		2203	4300	6503	SO:0001583	missense	3953			U43168	CCDS631.1, CCDS30740.1, CCDS30741.1, CCDS55604.1	1p31	2014-09-17			ENSG00000116678	ENSG00000116678		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6554	protein-coding gene	gene with protein product		601007				8548812, 8812446	Standard	NM_001003680		Approved	OBR, CD295	uc001dci.3	P48357	OTTHUMG00000009115	ENST00000349533.6:c.608C>G	1.37:g.66058453C>G	ENSP00000330393:p.Ala203Gly		Q6FHL5	Missense_Mutation	SNP	pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.A203G	ENST00000349533.6	37	c.608	CCDS631.1	1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950332	0.34377	.	.	ENSG00000116678	ENST00000344610;ENST00000349533;ENST00000371060;ENST00000371059;ENST00000371058	T;T;T;T;T	0.57107	0.44;0.43;0.44;0.42;0.44	5.96	5.05	0.67936	.	0.599505	0.17850	N	0.159898	T	0.41351	0.1155	M	0.72479	2.2	0.80722	D	1	P;P;P	0.43826	0.77;0.743;0.818	B;B;B	0.42593	0.219;0.392;0.392	T	0.51284	-0.8725	10	0.72032	D	0.01	-0.0957	9.456	0.38756	0.0:0.7849:0.0:0.2151	.	203;203;203	P48357;P48357-2;P48357-3	LEPR_HUMAN;.;.	G	203	ENSP00000340884:A203G;ENSP00000330393:A203G;ENSP00000360099:A203G;ENSP00000360098:A203G;ENSP00000360097:A203G	ENSP00000340884:A203G	A	+	2	0	LEPR	65831041	0.845000	0.29573	0.905000	0.35620	0.289000	0.27227	1.403000	0.34612	1.531000	0.49152	0.650000	0.86243	GCC	LEPR	-	NULL		0.428	LEPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPR	HGNC	protein_coding	OTTHUMT00000025275.1	C	NM_002303		66058453	+1	no_errors	ENST00000349533	ensembl	human	known	70_37	missense	SNP	0.870	G
LEFTY2	7044	genome.wustl.edu	37	1	226127637	226127637	+	Missense_Mutation	SNP	G	G	A	rs375598455		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:226127637G>A	ENST00000366820.5	-	2	664	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Intron|RP4-559A3.6_ENST00000513672.1_RNA	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	106					blood coagulation (GO:0007596)|cell growth (GO:0016049)|multicellular organismal development (GO:0007275)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|platelet alpha granule lumen (GO:0031093)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGCGGCAGCCGCTGCTCCATG	0.726																																					Colon(172;116 2643 9098 43333)												0								G	,TRP/ARG	0,4010		0,0,2005	8.0	9.0	9.0		,316	4.2	1.0	1		9	1,7813		0,1,3906	no	intron,missense	LEFTY2	NM_001172425.1,NM_003240.3	,101	0,1,5911	AA,AG,GG		0.0128,0.0,0.0085	,probably-damaging	,106/367	226127637	1,11823	2005	3907	5912	SO:0001583	missense	7044			U81523	CCDS1549.1, CCDS53479.1	1q42.1	2008-07-18	2004-11-17	2004-11-17	ENSG00000143768	ENSG00000143768			3122	protein-coding gene	gene with protein product	"""transforming growth factor, beta-4 (endometrial bleeding-associated factor; LEFTY A)"""	601877	"""endometrial bleeding associated factor (left-right determination, factor A; transforming growth factor beta superfamily)"""	TGFB4, EBAF		9153275	Standard	NM_001172425		Approved	LEFTA, LEFTYA	uc001hpt.2	O00292	OTTHUMG00000037441	ENST00000366820.5:c.316C>T	1.37:g.226127637G>A	ENSP00000355785:p.Arg106Trp		B3KNH4|B4E332|E9PDM4|O75611|Q5TE89|Q8NBQ9	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C,pirsf_LRDF,prints_LRDF	p.R106W	ENST00000366820.5	37	c.316	CCDS1549.1	1	.	.	.	.	.	.	.	.	.	.	g	21.4	4.146041	0.77888	0.0	1.28E-4	ENSG00000143768	ENST00000366820	T	0.65178	-0.14	4.25	4.25	0.50352	Transforming growth factor-beta, N-terminal (1);	0.060273	0.64402	D	0.000005	T	0.77512	0.4141	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.80169	-0.1494	10	0.87932	D	0	.	10.1552	0.42818	0.0:0.0:0.7432:0.2568	.	106	O00292	LFTY2_HUMAN	W	106	ENSP00000355785:R106W	ENSP00000355785:R106W	R	-	1	2	LEFTY2	224194260	0.993000	0.37304	1.000000	0.80357	0.984000	0.73092	0.750000	0.26334	2.082000	0.62665	0.561000	0.74099	CGG	LEFTY2	-	pfam_TGF-b_N,pirsf_LRDF,prints_LRDF		0.726	LEFTY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEFTY2	HGNC	protein_coding	OTTHUMT00000091152.1	G	NM_003240		226127637	-1	no_errors	ENST00000366820	ensembl	human	known	70_37	missense	SNP	0.988	A
LIMA1	51474	genome.wustl.edu	37	12	50625463	50625463	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:50625463C>T	ENST00000341247.4	-	3	299	c.150G>A	c.(148-150)atG>atA	p.M50I	LIMA1_ENST00000394943.3_Missense_Mutation_p.M50I|RP3-405J10.4_ENST00000551284.1_RNA|MIR1293_ENST00000408677.1_RNA	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	50					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTTCTTCTCCATGTTTGTTT	0.408																																																	0													181.0	160.0	167.0					12																	50625463		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.150G>A	12.37:g.50625463C>T	ENSP00000340184:p.Met50Ile		B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.M50I	ENST00000341247.4	37	c.150	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	C	9.690	1.151715	0.21371	.	.	ENSG00000050405	ENST00000394943;ENST00000341247;ENST00000551691;ENST00000550592	D;T	0.83673	-1.75;-1.01	5.08	3.22	0.36961	.	0.483083	0.23500	N	0.047508	T	0.75997	0.3926	M	0.63428	1.95	0.58432	D	0.999997	B;B	0.24092	0.097;0.057	B;B	0.18871	0.023;0.023	T	0.70487	-0.4858	10	0.34782	T	0.22	.	5.4863	0.16751	0.1628:0.6578:0.0:0.1794	.	59;50	Q59FE8;Q9UHB6	.;LIMA1_HUMAN	I	50	ENSP00000378400:M50I;ENSP00000340184:M50I	ENSP00000340184:M50I	M	-	3	0	LIMA1	48911730	0.978000	0.34361	0.987000	0.45799	0.924000	0.55760	0.219000	0.17641	1.276000	0.44395	0.591000	0.81541	ATG	LIMA1	-	NULL		0.408	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	C	NM_016357		50625463	-1	no_errors	ENST00000394943	ensembl	human	known	70_37	missense	SNP	0.610	T
MMP25	64386	genome.wustl.edu	37	16	3107626	3107626	+	Intron	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:3107626C>G	ENST00000336577.4	+	7	1243				RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25						negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	TGAGTCATTTCACTTGGCCTC	0.522																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0													125.0	109.0	115.0					16																	3107626		2197	4300	6497	SO:0001627	intron_variant	100507419			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.1006+12C>G	16.37:g.3107626C>G			Q96F04|Q96TE2	RNA	SNP	-	NULL	ENST00000336577.4	37	NULL	CCDS10492.1	16																																																																																			RP11-473M20.7	-	-		0.522	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507419	Clone_based_vega_gene	protein_coding	OTTHUMT00000437116.1	C	NM_022468		3107626	-1	no_errors	ENST00000573953	ensembl	human	known	70_37	rna	SNP	0.000	G
LRIG2	9860	genome.wustl.edu	37	1	113658995	113658995	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:113658995G>A	ENST00000361127.5	+	16	2815	c.2617G>A	c.(2617-2619)Gag>Aag	p.E873K	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	873					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		CAGCAACTCTGAGGCAGGCAG	0.478																																																	0													91.0	84.0	86.0					1																	113658995		2203	4300	6503	SO:0001583	missense	9860			AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.2617G>A	1.37:g.113658995G>A	ENSP00000355396:p.Glu873Lys		Q9NSN2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E873K	ENST00000361127.5	37	c.2617	CCDS30808.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.925013	0.97110	.	.	ENSG00000198799	ENST00000361127	T	0.63417	-0.04	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.74801	0.3764	M	0.80183	2.485	0.58432	D	0.999999	D	0.55172	0.97	P	0.57620	0.824	T	0.76041	-0.3104	10	0.59425	D	0.04	.	20.3206	0.98668	0.0:0.0:1.0:0.0	.	873	O94898	LRIG2_HUMAN	K	873	ENSP00000355396:E873K	ENSP00000355396:E873K	E	+	1	0	LRIG2	113460518	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.869000	0.99810	2.813000	0.96785	0.561000	0.74099	GAG	LRIG2	-	NULL		0.478	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG2	HGNC	protein_coding	OTTHUMT00000033549.2	G	NM_014813		113658995	+1	no_errors	ENST00000361127	ensembl	human	known	70_37	missense	SNP	1.000	A
MCRS1	10445	genome.wustl.edu	37	12	49958304	49958304	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:49958304C>G	ENST00000550165.1	-	7	783	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	MCRS1_ENST00000357123.4_Missense_Mutation_p.E186Q|MCRS1_ENST00000343810.4_Missense_Mutation_p.E173Q|MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	173					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TACCAACGCTCCTGGACCTCC	0.602																																																	0													46.0	40.0	42.0					12																	49958304		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.517G>C	12.37:g.49958304C>G	ENSP00000448056:p.Glu173Gln		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.E186Q	ENST00000550165.1	37	c.556	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	C	16.78	3.216858	0.58452	.	.	ENSG00000187778	ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334;ENST00000548596	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.41558	0.1164	N	0.20986	0.625	0.80722	D	1	P;B;B	0.44429	0.835;0.014;0.012	B;B;B	0.43728	0.429;0.026;0.008	T	0.21381	-1.0247	9	0.07175	T	0.84	-40.664	17.4356	0.87550	0.0:1.0:0.0:0.0	.	160;173;186	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	Q	173;173;186;160;173;173	.	ENSP00000345358:E173Q	E	-	1	0	MCRS1	48244571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.613000	0.82986	2.720000	0.93068	0.655000	0.94253	GAG	MCRS1	-	NULL		0.602	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	C	NM_006337		49958304	-1	no_errors	ENST00000357123	ensembl	human	known	70_37	missense	SNP	1.000	G
MCRS1	10445	genome.wustl.edu	37	12	49958552	49958552	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:49958552C>T	ENST00000550165.1	-	6	681	c.415G>A	c.(415-417)Gat>Aat	p.D139N	MCRS1_ENST00000357123.4_Missense_Mutation_p.D152N|MCRS1_ENST00000343810.4_Missense_Mutation_p.D139N|MCRS1_ENST00000547182.1_5'Flank|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	139					cellular protein modification process (GO:0006464)|chromatin organization (GO:0006325)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|Ino80 complex (GO:0031011)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						AGGAGGTCATCTGCAGGCTTC	0.587																																																	0													93.0	86.0	88.0					12																	49958552		2203	4300	6503	SO:0001583	missense	10445			BC011794	CCDS8787.1, CCDS31795.1, CCDS61118.1	12q13.12	2011-07-06				ENSG00000187778		"""INO80 complex subunits"""	6960	protein-coding gene	gene with protein product	"""INO80 complex subunit Q"""	609504				9765390, 9654073	Standard	NM_006337		Approved	ICP22BP, MSP58, P78, MCRS2, INO80Q	uc001rui.1	Q96EZ8		ENST00000550165.1:c.415G>A	12.37:g.49958552C>T	ENSP00000448056:p.Asp139Asn		O14742|O75497|Q6VN53|Q7Z372	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.D152N	ENST00000550165.1	37	c.454	CCDS8787.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.488399	0.96323	.	.	ENSG00000187778	ENST00000343810;ENST00000550165;ENST00000357123;ENST00000553173;ENST00000548334;ENST00000548596;ENST00000549528	.	.	.	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.83514	0.5271	M	0.85373	2.75	0.80722	D	1	D;D;D	0.89917	0.979;1.0;1.0	P;D;D	0.97110	0.846;1.0;1.0	D	0.85906	0.1437	9	0.87932	D	0	-19.7284	16.3249	0.82975	0.0:1.0:0.0:0.0	.	126;139;152	F8W126;Q96EZ8;Q96EZ8-2	.;MCRS1_HUMAN;.	N	139;139;152;126;139;139;143	.	ENSP00000345358:D139N	D	-	1	0	MCRS1	48244819	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	7.441000	0.80485	2.720000	0.93068	0.655000	0.94253	GAT	MCRS1	-	NULL		0.587	MCRS1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MCRS1	HGNC	protein_coding	OTTHUMT00000405102.1	C	NM_006337		49958552	-1	no_errors	ENST00000357123	ensembl	human	known	70_37	missense	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	150873999	150873999	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:150873999C>G	ENST00000474524.1	+	5	646	c.608C>G	c.(607-609)tCt>tGt	p.S203C	MED12L_ENST00000422248.2_Missense_Mutation_p.S203C|MED12L_ENST00000273432.4_Missense_Mutation_p.S203C|MED12L_ENST00000309237.4_Missense_Mutation_p.S203C	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	203						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCCAAGATTTCTGACTTTTAC	0.458																																																	0													103.0	99.0	101.0					3																	150873999		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.608C>G	3.37:g.150873999C>G	ENSP00000417235:p.Ser203Cys		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.S203C	ENST00000474524.1	37	c.608	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	18.84	3.708531	0.68615	.	.	ENSG00000144893	ENST00000422248;ENST00000309237;ENST00000474524;ENST00000273432	T;T;T;T	0.61040	0.45;0.45;0.34;0.14	4.78	4.78	0.61160	.	0.137564	0.48286	D	0.000199	T	0.56485	0.1988	N	0.19112	0.55	0.36140	D	0.846706	B;B;B;P	0.40875	0.32;0.38;0.32;0.731	B;B;B;P	0.49752	0.176;0.243;0.351;0.621	T	0.69087	-0.5238	10	0.87932	D	0	-7.1014	17.78	0.88520	0.0:1.0:0.0:0.0	.	203;203;203;203	F8WAE6;Q86YW9;Q86YW9-2;Q86YW9-3	.;MD12L_HUMAN;.;.	C	203	ENSP00000403308:S203C;ENSP00000310760:S203C;ENSP00000417235:S203C;ENSP00000273432:S203C	ENSP00000273432:S203C	S	+	2	0	MED12L	152356689	1.000000	0.71417	0.993000	0.49108	0.946000	0.59487	7.366000	0.79548	2.350000	0.79820	0.557000	0.71058	TCT	MED12L	-	NULL		0.458	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		150873999	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	G
MGAM	8972	genome.wustl.edu	37	7	141794572	141794572	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:141794572T>C	ENST00000549489.2	+	40	4774	c.4679T>C	c.(4678-4680)tTt>tCt	p.F1560S	MGAM_ENST00000475668.2_Missense_Mutation_p.F2456S	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1560	Glucoamylase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGTGGGTTCTTTCAAGATGCT	0.488																																																	0													67.0	65.0	66.0					7																	141794572		1868	4104	5972	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.4679T>C	7.37:g.141794572T>C	ENSP00000447378:p.Phe1560Ser		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.F1560S	ENST00000549489.2	37	c.4679	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	T	12.25	1.882629	0.33255	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.91295	-2.82	5.37	5.37	0.77165	Glycoside hydrolase, superfamily (1);	.	.	.	.	D	0.90356	0.6982	M	0.74647	2.275	0.29281	N	0.870045	P	0.41748	0.761	B	0.39738	0.308	D	0.87490	0.2426	9	0.42905	T	0.14	.	14.6414	0.68729	0.0:0.0:0.0:1.0	.	1560	O43451	MGA_HUMAN	S	1560;2457	ENSP00000447378:F1560S	ENSP00000373973:F1560S	F	+	2	0	MGAM	141441041	1.000000	0.71417	0.982000	0.44146	0.881000	0.50899	3.994000	0.56994	2.154000	0.67381	0.533000	0.62120	TTT	MGAM	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.488	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	T			141794572	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.990	C
MIA3	375056	genome.wustl.edu	37	1	222801802	222801802	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:222801802G>A	ENST00000344922.5	+	4	1265	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.D414N|MIA3_ENST00000344507.1_Missense_Mutation_p.D414N	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	414					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAAAAGAAGATGATGATGA	0.413																																																	0													112.0	106.0	108.0					1																	222801802		1936	4137	6073	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.1240G>A	1.37:g.222801802G>A	ENSP00000340900:p.Asp414Asn		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.D414N	ENST00000344922.5	37	c.1240	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.291228	0.40494	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000344507	T;T;T	0.41758	0.99;0.99;1.35	4.99	4.99	0.66335	.	.	.	.	.	T	0.34366	0.0895	N	0.08118	0	0.38365	D	0.944726	P;P	0.37781	0.557;0.608	P;B	0.44359	0.447;0.261	T	0.44590	-0.9318	9	0.48119	T	0.1	.	18.6081	0.91273	0.0:0.0:1.0:0.0	.	414;414	Q5JRA6-2;Q5JRA6	.;MIA3_HUMAN	N	414	ENSP00000340900:D414N;ENSP00000340587:D414N;ENSP00000341348:D414N	ENSP00000325973:D414N	D	+	1	0	MIA3	220868425	0.977000	0.34250	0.237000	0.24090	0.366000	0.29705	2.318000	0.43779	2.464000	0.83262	0.195000	0.17529	GAT	MIA3	-	NULL		0.413	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222801802	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.998	A
MT-ND2	4536	genome.wustl.edu	37	M	1746	1746	+	5'Flank	SNP	A	A	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrM:1746A>G	ENST00000361453.3	+	0	0				MT-TM_ENST00000387377.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-RNR2_ENST00000387347.2_RNA|MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-ND1_ENST00000361390.2_5'Flank|MT-TL1_ENST00000386347.1_RNA			P03891	NU2M_HUMAN	mitochondrially encoded NADH dehydrogenase 2						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(2)|lung(1)	3						CAAATAAAGTATAGGCGATAG	0.403																																																	0																																										SO:0001631	upstream_gene_variant	100616263					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198763	ENSG00000198763	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7456	protein-coding gene	gene with protein product	"""complex I ND2 subunit"", ""NADH-ubiquinone oxidoreductase chain 2"""	516001	"""NADH dehydrogenase 2"""	MTND2			Standard			Approved	ND2, NAD2		P03891			M.37:g.1746A>G	Exception_encountered		Q34769|Q9TGI0|Q9TGI1|Q9TGI2|Q9TGI3|Q9TGI4	RNA	SNP	-	NULL	ENST00000361453.3	37	NULL		MT																																																																																			MIR4485	-	-		0.403	MT-ND2-201	KNOWN	basic|appris_principal	protein_coding	MIR4485	HGNC	protein_coding		A	YP_003024027		1746	+1	no_errors	ENST00000387347	ensembl	human	known	70_37	rna	SNP	NULL	G
MKLN1	4289	genome.wustl.edu	37	7	131082109	131082109	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:131082109C>T	ENST00000352689.6	+	5	524	c.484C>T	c.(484-486)Caa>Taa	p.Q162*	MKLN1_ENST00000429546.1_Nonsense_Mutation_p.Q70*|MKLN1_ENST00000421797.2_Nonsense_Mutation_p.Q70*	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	162					signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TGATATAGTACAACCTTGTCT	0.378																																																	0													168.0	151.0	157.0					7																	131082109		2203	4300	6503	SO:0001587	stop_gained	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.484C>T	7.37:g.131082109C>T	ENSP00000323527:p.Gln162*		A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Nonsense_Mutation	SNP	pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Q162*	ENST00000352689.6	37	c.484	CCDS34754.1	7	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741078	0.89573	.	.	ENSG00000128585	ENST00000421797;ENST00000416992;ENST00000429546;ENST00000446815;ENST00000352689	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.7103	19.2508	0.93925	0.0:1.0:0.0:0.0	.	.	.	.	X	70;70;70;70;162	.	ENSP00000323527:Q162X	Q	+	1	0	MKLN1	130732649	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.776000	0.85560	2.868000	0.98415	0.555000	0.69702	CAA	MKLN1	-	pfam_Muskelin_N		0.378	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	HGNC	protein_coding	OTTHUMT00000337473.4	C	NM_013255		131082109	+1	no_errors	ENST00000352689	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151845151	151845151	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:151845151C>A	ENST00000262189.6	-	52	14079	c.13861G>T	c.(13861-13863)Gaa>Taa	p.E4621*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.E4678*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4621	FYR C-terminal. {ECO:0000255|PROSITE- ProRule:PRU00876}.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ACCAGGTCTTCATGGCCTTGT	0.498																																																	0													94.0	84.0	87.0					7																	151845151		2203	4300	6503	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13861G>T	7.37:g.151845151C>A	ENSP00000262189:p.Glu4621*		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4678*	ENST00000262189.6	37	c.14032	CCDS5931.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	55|55	24.304048|24.304048	0.99960|0.99960	.|.	.|.	ENSG00000055609|ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877|ENST00000360104	.|.	.|.	.|.	4.29|4.29	4.29|4.29	0.51040|0.51040	.|.	0.153716|.	0.29260|.	U|.	0.012673|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.51188|.	T|.	0.08|.	.|.	16.7614|16.7614	0.85513|0.85513	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	4621;4678;1238|2181	.|.	ENSP00000262189:E4621X|.	E|X	-|-	1|2	0|2	MLL3|MLL3	151476084|151476084	1.000000|1.000000	0.71417|0.71417	0.983000|0.983000	0.44433|0.44433	0.873000|0.873000	0.50193|0.50193	4.996000|4.996000	0.63914|0.63914	1.949000|1.949000	0.56562|0.56562	0.557000|0.557000	0.71058|0.71058	GAA|TGA	MLL3	-	pfam_FYrich_C,smart_FYrich_C		0.498	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151845151	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MPZL1	9019	genome.wustl.edu	37	1	167757061	167757061	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:167757061C>T	ENST00000359523.2	+	6	915	c.713C>T	c.(712-714)cCa>cTa	p.P238L	MPZL1_ENST00000474859.1_Nonsense_Mutation_p.Q204*|MPZL1_ENST00000403379.3_3'UTR|MPZL1_ENST00000392121.3_Missense_Mutation_p.P88L	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	238					cell-cell signaling (GO:0007267)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	structural molecule activity (GO:0005198)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TTCCAGGGCCCAGTCATATAT	0.473																																																	0													105.0	96.0	99.0					1																	167757061		2203	4300	6503	SO:0001583	missense	9019			AF087020	CCDS1264.1, CCDS44273.1, CCDS53425.1	1q24.2	2013-01-11			ENSG00000197965	ENSG00000197965		"""Immunoglobulin superfamily / V-set domain containing"""	7226	protein-coding gene	gene with protein product		604376				9792637	Standard	NM_003953		Approved	PZR, FLJ21047	uc001geo.3	O95297	OTTHUMG00000034571	ENST00000359523.2:c.713C>T	1.37:g.167757061C>T	ENSP00000352513:p.Pro238Leu		B2REB9|B2REC0|Q5R332|Q8IX11|Q9BWZ3|Q9NYK4|Q9UL20	Nonsense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Myelin_P0	p.Q204*	ENST00000359523.2	37	c.610	CCDS1264.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.330415|4.330415	0.81690|0.81690	.|.	.|.	ENSG00000197965|ENSG00000197965	ENST00000359523;ENST00000392121|ENST00000474859;ENST00000367853	D;D|.	0.99089|.	-5.41;-3.28|.	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.516425	.|0.20172	.|N	.|0.097705	T|.	0.48370|.	0.1496|.	L|L	0.32530|0.32530	0.975|0.975	.|.	.|.	.|.	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.996|.	T|.	0.52041|.	-0.8628|.	8|.	0.87932|0.44086	D|T	0|0.13	.|.	16.5301|16.5301	0.84355|0.84355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	88;238|.	B2REC0;O95297|.	.;MPZL1_HUMAN|.	L|X	238;88|204;178	ENSP00000352513:P238L;ENSP00000375968:P88L|.	ENSP00000352513:P238L|ENSP00000356827:Q178X	P|Q	+|+	2|1	0|0	MPZL1|MPZL1	166023685|166023685	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.525000|3.525000	0.53502|0.53502	2.505000|2.505000	0.84491|0.84491	0.650000|0.650000	0.86243|0.86243	CCA|CAG	MPZL1	-	NULL		0.473	MPZL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPZL1	HGNC	protein_coding	OTTHUMT00000083655.2	C	NM_024569		167757061	+1	no_errors	ENST00000474859	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MTMR1	8776	genome.wustl.edu	37	X	149931144	149931144	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:149931144C>A	ENST00000370390.3	+	15	2097	c.1940C>A	c.(1939-1941)tCa>tAa	p.S647*	MTMR1_ENST00000541925.1_Nonsense_Mutation_p.S553*|MTMR1_ENST00000445323.2_Nonsense_Mutation_p.S655*|MTMR1_ENST00000544228.1_Nonsense_Mutation_p.S647*|MTMR1_ENST00000538506.1_Intron	NM_003828.2	NP_003819.1	Q13613	MTMR1_HUMAN	myotubularin related protein 1	647	Poly-Ser.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol-3-phosphatase activity (GO:0004438)|protein tyrosine phosphatase activity (GO:0004725)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCATCCTCATCTGAGCGG	0.672																																																	0													54.0	51.0	52.0					X																	149931144		2203	4300	6503	SO:0001587	stop_gained	8776			U58032	CCDS14695.1	Xq28	2011-06-09			ENSG00000063601	ENSG00000063601		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7449	protein-coding gene	gene with protein product		300171				9828128	Standard	XM_005274765		Approved		uc004fei.3	Q13613	OTTHUMG00000024159	ENST00000370390.3:c.1940C>A	X.37:g.149931144C>A	ENSP00000359417:p.Ser647*		A0A024RC07|Q9UBX6|Q9UEM0|Q9UQD5	Nonsense_Mutation	SNP	pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase	p.S655*	ENST00000370390.3	37	c.1964	CCDS14695.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.590354	0.97688	.	.	ENSG00000063601	ENST00000541925;ENST00000370390;ENST00000445323;ENST00000544228	.	.	.	5.14	5.14	0.70334	.	0.175497	0.51477	D	0.000086	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.8016	0.88589	0.0:1.0:0.0:0.0	.	.	.	.	X	553;647;655;647	.	ENSP00000359417:S647X	S	+	2	0	MTMR1	149681802	0.992000	0.36948	0.008000	0.14137	0.543000	0.35085	5.462000	0.66707	2.134000	0.65973	0.529000	0.55759	TCA	MTMR1	-	NULL		0.672	MTMR1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR1	HGNC	protein_coding	OTTHUMT00000060863.2	C	NM_003828, NM_176789		149931144	+1	no_errors	ENST00000445323	ensembl	human	known	70_37	nonsense	SNP	0.865	A
MUC16	94025	genome.wustl.edu	37	19	9059312	9059312	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:9059312C>T	ENST00000397910.4	-	3	28337	c.28134G>A	c.(28132-28134)tcG>tcA	p.S9378S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9380	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						AGGTACCCTGCGAGGTAGCCC	0.512																																																	0													138.0	137.0	137.0					19																	9059312		1971	4146	6117	SO:0001819	synonymous_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.28134G>A	19.37:g.9059312C>T			Q6ZQW5|Q96RK2	Silent	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.S9378	ENST00000397910.4	37	c.28134	CCDS54212.1	19																																																																																			MUC16	-	NULL		0.512	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9059312	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	silent	SNP	0.000	T
MUC16	94025	genome.wustl.edu	37	19	9073717	9073717	+	Missense_Mutation	SNP	C	C	T	rs372775227		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:9073717C>T	ENST00000397910.4	-	3	13932	c.13729G>A	c.(13729-13731)Gct>Act	p.A4577T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4579	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GAAGCAAGAGCGTCCCCCATG	0.527																																																	0								C	THR/ALA	1,4167		0,1,2083	98.0	95.0	96.0		13729	-3.5	0.0	19		96	0,8408		0,0,4204	no	missense	MUC16	NM_024690.2	58	0,1,6287	TT,TC,CC		0.0,0.024,0.0080	benign	4577/14508	9073717	1,12575	2084	4204	6288	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.13729G>A	19.37:g.9073717C>T	ENSP00000381008:p.Ala4577Thr		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.A4577T	ENST00000397910.4	37	c.13729	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	0.481	-0.880030	0.02530	2.4E-4	0.0	ENSG00000181143	ENST00000397910	T	0.15372	2.43	1.75	-3.49	0.04724	.	.	.	.	.	T	0.05823	0.0152	N	0.03608	-0.345	.	.	.	B	0.02656	0.0	B	0.01281	0.0	T	0.29701	-1.0003	8	0.87932	D	0	.	1.4677	0.02409	0.1407:0.3061:0.141:0.4122	.	4577	B5ME49	.	T	4577	ENSP00000381008:A4577T	ENSP00000381008:A4577T	A	-	1	0	MUC16	8934717	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.974000	0.03794	-3.278000	0.00198	-1.800000	0.00619	GCT	MUC16	-	NULL		0.527	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	C	NM_024690		9073717	-1	no_errors	ENST00000397910	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC17	140453	genome.wustl.edu	37	7	100677044	100677044	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:100677044G>A	ENST00000306151.4	+	3	2411	c.2347G>A	c.(2347-2349)Gaa>Aaa	p.E783K		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	783	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CACTTCTACTGAAGCCAGTTG	0.458																																																	0													272.0	278.0	276.0					7																	100677044		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.2347G>A	7.37:g.100677044G>A	ENSP00000302716:p.Glu783Lys		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E783K	ENST00000306151.4	37	c.2347	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	g	3.598	-0.082193	0.07141	.	.	ENSG00000169876	ENST00000306151	T	0.02631	4.22	0.932	-0.129	0.13502	.	.	.	.	.	T	0.01523	0.0049	N	0.14661	0.345	0.09310	N	1	B	0.17852	0.024	B	0.09377	0.004	T	0.48222	-0.9054	9	0.06236	T	0.91	.	6.6395	0.22901	0.0:0.5936:0.4064:0.0	.	783	Q685J3	MUC17_HUMAN	K	783	ENSP00000302716:E783K	ENSP00000302716:E783K	E	+	1	0	MUC17	100463764	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-1.978000	0.01494	-0.016000	0.14127	0.134000	0.15878	GAA	MUC17	-	NULL		0.458	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100677044	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.004	A
MXRA5	25878	genome.wustl.edu	37	X	3228968	3228968	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:3228968C>T	ENST00000217939.6	-	7	7430	c.7276G>A	c.(7276-7278)Gag>Aag	p.E2426K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2426	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCCTATCCTCTCCCGCGCTG	0.552													C|||	1	0.000264901	0.0	0.0	3775	,	,		14656	0.001		0.0	False		,,,				2504	0.0																0													106.0	64.0	78.0					X																	3228968		2202	4300	6502	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7276G>A	X.37:g.3228968C>T	ENSP00000217939:p.Glu2426Lys		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E2426K	ENST00000217939.6	37	c.7276	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	C	14.60	2.582612	0.46006	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.66280	-0.2	3.78	3.78	0.43462	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38436	U	0.001684	T	0.71005	0.3289	L	0.42581	1.335	0.36053	D	0.840914	D	0.67145	0.996	D	0.72075	0.976	T	0.76130	-0.3072	10	0.36615	T	0.2	.	15.4341	0.75129	0.0:1.0:0.0:0.0	.	2426	Q9NR99	MXRA5_HUMAN	K	2426	ENSP00000217939:E2426K	ENSP00000217939:E2426K	E	-	1	0	MXRA5	3238968	0.994000	0.37717	0.221000	0.23827	0.033000	0.12548	2.806000	0.47947	1.526000	0.49068	0.597000	0.82753	GAG	MXRA5	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.552	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	C	NM_015419		3228968	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO1H	283446	genome.wustl.edu	37	12	109834304	109834304	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:109834304G>A	ENST00000431443.2	+	3	358	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYO1H_ENST00000310903.5_Missense_Mutation_p.E120K	NM_001101421.3	NP_001094891.3	Q8N1T3	MYO1H_HUMAN	myosin IH	120	Myosin motor.					myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						GAAAATTCTCGAGTATTTTGC	0.493																																																	0													70.0	70.0	70.0					12																	109834304		1885	4114	5999	SO:0001583	missense	283446				CCDS53826.1	12q24.11	2011-09-27			ENSG00000174527	ENSG00000174527		"""Myosins / Myosin superfamily : Class I"""	13879	protein-coding gene	gene with protein product		614636					Standard	NM_001101421		Approved	FLJ37587	uc010sxn.1	Q8N1T3	OTTHUMG00000169252	ENST00000431443.2:c.358G>A	12.37:g.109834304G>A	ENSP00000444076:p.Glu120Lys		F5H3C6	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E120K	ENST00000431443.2	37	c.358		12	.	.	.	.	.	.	.	.	.	.	g	18.33	3.600281	0.66332	.	.	ENSG00000174527	ENST00000310903;ENST00000431443	T;T	0.70749	-0.51;-0.51	4.8	3.91	0.45181	.	.	.	.	.	T	0.42108	0.1188	N	0.00859	-1.14	0.35962	D	0.834698	B	0.02656	0.0	B	0.01281	0.0	T	0.45175	-0.9279	9	0.37606	T	0.19	.	15.1443	0.72637	0.0:0.8575:0.1425:0.0	.	120	F5H3C6	.	K	120	ENSP00000439182:E120K;ENSP00000444076:E120K	ENSP00000439182:E120K	E	+	1	0	MYO1H	108318687	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.006000	0.70724	1.358000	0.45922	-0.140000	0.14226	GAG	MYO1H	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.493	MYO1H-201	KNOWN	basic	protein_coding	MYO1H	HGNC	protein_coding		G	NM_173597		109834304	+1	no_errors	ENST00000431443	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO9B	4650	genome.wustl.edu	37	19	17263479	17263479	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:17263479G>C	ENST00000594824.1	+	4	1108	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	MYO9B_ENST00000397274.2_Missense_Mutation_p.E321Q|MYO9B_ENST00000595618.1_Missense_Mutation_p.E321Q|CTD-3032J10.2_ENST00000597216.1_RNA|CTD-3032J10.2_ENST00000599360.1_RNA			Q13459	MYO9B_HUMAN	myosin IXB	321	Myosin motor.				actin filament-based movement (GO:0030048)|establishment of cell polarity (GO:0030010)|lamellipodium morphogenesis (GO:0072673)|macrophage chemotaxis (GO:0048246)|monocyte chemotaxis (GO:0002548)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filamentous actin (GO:0031941)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|membrane (GO:0016020)|myosin complex (GO:0016459)|perinuclear region of cytoplasm (GO:0048471)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATATCTGCTTGAAAAGTCTCG	0.383																																																	0													103.0	98.0	100.0					19																	17263479		1889	4118	6007	SO:0001583	missense	4650				CCDS46010.1	19p13.1	2011-09-27				ENSG00000099331		"""Myosins / Myosin superfamily : Class IX"""	7609	protein-coding gene	gene with protein product		602129		CELIAC4		9226381	Standard	NM_004145		Approved		uc010eak.3	Q13459		ENST00000594824.1:c.961G>C	19.37:g.17263479G>C	ENSP00000471367:p.Glu321Gln		O75314|Q9NUJ2|Q9UHN0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.E321Q	ENST00000594824.1	37	c.961		19	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887948	0.91814	.	.	ENSG00000099331	ENST00000397274	D	0.82984	-1.67	5.04	5.04	0.67666	Myosin head, motor domain (2);	0.000000	0.53938	D	0.000051	D	0.94407	0.8201	H	0.97465	4.01	0.52501	D	0.999956	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79108	0.992;0.992;0.99	D	0.96443	0.9328	10	0.87932	D	0	.	16.9399	0.86215	0.0:0.0:1.0:0.0	.	321;321;327	Q13459;B0I1T6;Q4LE74	MYO9B_HUMAN;.;.	Q	321	ENSP00000380444:E321Q	ENSP00000380444:E321Q	E	+	1	0	MYO9B	17124479	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	9.148000	0.94652	2.338000	0.79540	0.561000	0.74099	GAA	MYO9B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.383	MYO9B-002	KNOWN	basic|appris_principal	protein_coding	MYO9B	HGNC	protein_coding	OTTHUMT00000463236.1	G			17263479	+1	no_errors	ENST00000594824	ensembl	human	known	70_37	missense	SNP	1.000	C
MYOM3	127294	genome.wustl.edu	37	1	24413279	24413279	+	Silent	SNP	C	C	T	rs376623497		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:24413279C>T	ENST00000374434.3	-	15	1815	c.1653G>A	c.(1651-1653)tcG>tcA	p.S551S	MYOM3_ENST00000329601.7_Silent_p.S551S|RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000475306.1_5'UTR|MYOM3_ENST00000330966.7_Silent_p.S552S	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3	551	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.					M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CAGGGCTTTCCGAGCTGATGG	0.552																																																	0								C		0,3998		0,0,1999	83.0	85.0	84.0		1653	-11.4	0.0	1		84	3,8319		0,3,4158	no	coding-synonymous	MYOM3	NM_152372.3		0,3,6157	TT,TC,CC		0.036,0.0,0.0244		551/1438	24413279	3,12317	1999	4161	6160	SO:0001819	synonymous_variant	127294			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.1653G>A	1.37:g.24413279C>T			A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S552	ENST00000374434.3	37	c.1656	CCDS41281.1	1																																																																																			MYOM3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	MYOM3	HGNC	protein_coding	OTTHUMT00000008272.2	C	NM_152372		24413279	-1	no_errors	ENST00000330966	ensembl	human	known	70_37	silent	SNP	0.000	T
MYRIP	25924	genome.wustl.edu	37	3	40223858	40223858	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:40223858G>A	ENST00000302541.6	+	9	1363	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	MYRIP_ENST00000425621.1_Missense_Mutation_p.E341K|MYRIP_ENST00000539167.1_Missense_Mutation_p.E154K|MYRIP_ENST00000396217.3_Missense_Mutation_p.E252K|MYRIP_ENST00000444716.1_Missense_Mutation_p.E341K|MYRIP_ENST00000459828.1_3'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	341	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		CAGGCTGGATGAAACAAGTAA	0.527																																																	0													89.0	72.0	78.0					3																	40223858		2203	4300	6503	SO:0001583	missense	25924			AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1021G>A	3.37:g.40223858G>A	ENSP00000301972:p.Glu341Lys		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Missense_Mutation	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.E341K	ENST00000302541.6	37	c.1021	CCDS2689.1	3	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709043	0.68615	.	.	ENSG00000170011	ENST00000444716;ENST00000302541;ENST00000425621;ENST00000396217;ENST00000539167	T;T;T;T;T	0.26660	1.72;1.72;1.72;1.72;1.72	5.27	1.42	0.22433	Myelin-associated oligodendrocytic basic protein (MOBP) (1);	0.671752	0.14946	N	0.289229	T	0.18676	0.0448	L	0.39898	1.24	0.09310	N	1	P;P;B	0.45044	0.849;0.465;0.101	B;B;B	0.40702	0.338;0.085;0.096	T	0.09818	-1.0657	9	.	.	.	.	6.5821	0.22600	0.1581:0.279:0.5629:0.0	.	252;341;341	Q32M42;G3XAI8;Q8NFW9	.;.;MYRIP_HUMAN	K	341;341;341;252;154	ENSP00000398665:E341K;ENSP00000301972:E341K;ENSP00000389323:E341K;ENSP00000379519:E252K;ENSP00000438297:E154K	.	E	+	1	0	MYRIP	40198862	0.117000	0.22190	0.001000	0.08648	0.979000	0.70002	0.819000	0.27308	-0.018000	0.14079	0.655000	0.94253	GAA	MYRIP	-	pfam_Myrip/Melanophilin		0.527	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYRIP	HGNC	protein_coding	OTTHUMT00000254181.2	G	NM_015460		40223858	+1	no_errors	ENST00000302541	ensembl	human	known	70_37	missense	SNP	0.064	A
NAA16	79612	genome.wustl.edu	37	13	41936244	41936244	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:41936244G>T	ENST00000379406.3	+	13	1812	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	NAA16_ENST00000379367.3_Missense_Mutation_p.Q496H	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	496					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						CAGCTTATCAGCGTCTGGGGA	0.383																																																	0													127.0	124.0	125.0					13																	41936244		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.1488G>T	13.37:g.41936244G>T	ENSP00000368716:p.Gln496His		B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q496H	ENST00000379406.3	37	c.1488	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	12.42	1.933483	0.34096	.	.	ENSG00000172766	ENST00000379367;ENST00000379406	T;T	0.45668	0.89;0.89	5.56	3.78	0.43462	Tetratricopeptide-like helical (1);	0.000000	0.64402	D	0.000001	T	0.49047	0.1534	L	0.45352	1.415	0.52099	D	0.999949	P	0.52463	0.953	D	0.64687	0.928	T	0.32798	-0.9893	10	0.16420	T	0.52	-9.1137	10.2707	0.43481	0.2224:0.0:0.7776:0.0	.	496	Q6N069	NAA16_HUMAN	H	496	ENSP00000368674:Q496H;ENSP00000368716:Q496H	ENSP00000368674:Q496H	Q	+	3	2	NAA16	40834244	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.459000	0.35234	0.680000	0.31366	0.655000	0.94253	CAG	NAA16	-	pirsf_NatA_aux_su		0.383	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	G	NM_018527		41936244	+1	no_errors	ENST00000379406	ensembl	human	known	70_37	missense	SNP	1.000	T
NAP1L3	4675	genome.wustl.edu	37	X	92928398	92928398	+	5'UTR	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:92928398G>A	ENST00000373079.3	-	0	169				FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000332647.4_5'Flank|NAP1L3_ENST00000475430.2_5'UTR|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3						nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						cggaggcccgggctgcggagg	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.-95C>T	X.37:g.92928398G>A			B2RCM0|O60788	RNA	SNP	-	NULL	ENST00000373079.3	37	NULL	CCDS14465.1	X																																																																																			NAP1L3	-	-		0.672	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	G	NM_004538		92928398	-1	no_errors	ENST00000475430	ensembl	human	known	70_37	rna	SNP	0.001	A
NCOA2	10499	genome.wustl.edu	37	8	71128948	71128948	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:71128948G>A	ENST00000452400.2	-	3	214	c.33C>T	c.(31-33)ccC>ccT	p.P11P		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	11					cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucose metabolic process (GO:0010906)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|signal transducer activity (GO:0004871)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CTGCCCTGGAGGGGTCAGAGG	0.433			T	"""RUNXBP2, HEY1"""	"""AML, Chondrosarcoma"""																																			Dom	yes		8	8q13.1	10499	nuclear receptor coactivator 2 (TIF2)		L	0													175.0	166.0	169.0					8																	71128948		1862	4116	5978	SO:0001819	synonymous_variant	10499			X97674	CCDS47872.1	8q13.3	2011-07-01			ENSG00000140396	ENSG00000140396		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7669	protein-coding gene	gene with protein product		601993				9111344, 8670870	Standard	XM_005251128		Approved	TIF2, GRIP1, NCoA-2, KAT13C, bHLHe75	uc003xyn.1	Q15596	OTTHUMG00000164671	ENST00000452400.2:c.33C>T	8.37:g.71128948G>A			Q14CD2	Silent	SNP	pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom	p.P11	ENST00000452400.2	37	c.33	CCDS47872.1	8																																																																																			NCOA2	-	pirsf_Nuclear_rcpt_coactivator		0.433	NCOA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOA2	HGNC	protein_coding	OTTHUMT00000379696.1	G			71128948	-1	no_errors	ENST00000452400	ensembl	human	known	70_37	silent	SNP	0.738	A
NCOR2	9612	genome.wustl.edu	37	12	124914165	124914165	+	Missense_Mutation	SNP	C	C	A	rs199934660		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:124914165C>A	ENST00000405201.1	-	10	1143	c.1143G>T	c.(1141-1143)gaG>gaT	p.E381D	NCOR2_ENST00000397355.1_Missense_Mutation_p.E381D|NCOR2_ENST00000404621.1_Missense_Mutation_p.E380D|NCOR2_ENST00000356219.3_Missense_Mutation_p.E381D|NCOR2_ENST00000429285.2_Missense_Mutation_p.E380D|NCOR2_ENST00000404121.2_5'UTR			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	381					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCACCTCCTGCTCTGAGAGGC	0.672																																																	0								C	ASP/GLU,ASP/GLU,ASP/GLU	0,4178		0,0,2089	26.0	32.0	30.0		1140,1140,1143	3.6	1.0	12		30	1,8431		0,1,4215	no	missense,missense,missense	NCOR2	NM_001077261.3,NM_001206654.1,NM_006312.5	45,45,45	0,1,6304	AA,AC,CC		0.0119,0.0,0.0079	probably-damaging,probably-damaging,probably-damaging	380/2459,380/2505,381/2515	124914165	1,12609	2089	4216	6305	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1143G>T	12.37:g.124914165C>A	ENSP00000384018:p.Glu381Asp		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E381D	ENST00000405201.1	37	c.1143	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	11.96	1.793798	0.31777	0.0	1.19E-4	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000429285;ENST00000458234;ENST00000420698	T;T;T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82;0.82;0.82	3.57	3.57	0.40892	.	0.221522	0.37178	N	0.002201	T	0.63522	0.2518	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.993;0.993;0.996	D;D;D	0.75484	0.967;0.967;0.986	T	0.66744	-0.5846	10	0.87932	D	0	-27.8194	9.4939	0.38976	0.0:0.8375:0.0:0.1625	.	380;381;381	C9J0Q5;C9J239;C9JFD3	.;.;.	D	381;380;381;381;381;380;381;381	ENSP00000384018:E381D;ENSP00000384202:E380D;ENSP00000348551:E381D;ENSP00000380513:E381D;ENSP00000400281:E380D;ENSP00000402808:E381D;ENSP00000405367:E381D	ENSP00000348551:E381D	E	-	3	2	NCOR2	123480118	0.997000	0.39634	1.000000	0.80357	0.702000	0.40608	0.537000	0.23144	1.976000	0.57569	0.313000	0.20887	GAG	NCOR2	-	NULL		0.672	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124914165	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	A
NEK8	284086	genome.wustl.edu	37	17	27061104	27061104	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:27061104G>A	ENST00000268766.6	+	2	185	c.151G>A	c.(151-153)Gag>Aag	p.E51K	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	51	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				organ morphogenesis (GO:0009887)|regulation of hippo signaling (GO:0035330)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|primary cilium (GO:0072372)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGCCCAGAATGAGTGCCAGGT	0.527																																					NSCLC(6;19 293 14866 25253 49845)												0													114.0	101.0	105.0					17																	27061104		2203	4300	6503	SO:0001583	missense	284086			AY267371	CCDS32597.1	17q11.1	2012-11-15	2012-11-15			ENSG00000160602			13387	protein-coding gene	gene with protein product		609799	"""NIMA (never in mitosis gene a)- related kinase 8"""			18199800	Standard	NM_178170		Approved	NPHP9	uc002hcp.3	Q86SG6		ENST00000268766.6:c.151G>A	17.37:g.27061104G>A	ENSP00000268766:p.Glu51Lys		A6NIC5|Q14CL7|Q2M1S6|Q8NDH1	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E51K	ENST00000268766.6	37	c.151	CCDS32597.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.577772	0.96565	.	.	ENSG00000160602	ENST00000543014;ENST00000268766	T;T	0.64803	-0.12;-0.12	4.92	4.92	0.64577	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	H	0.99368	4.535	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93875	0.7166	10	0.87932	D	0	.	17.124	0.86710	0.0:0.0:1.0:0.0	.	51	Q86SG6	NEK8_HUMAN	K	51	ENSP00000465859:E51K;ENSP00000268766:E51K	ENSP00000268766:E51K	E	+	1	0	NEK8	24085231	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	9.530000	0.98051	2.267000	0.75376	0.313000	0.20887	GAG	NEK8	-	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		0.527	NEK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK8	HGNC	protein_coding	OTTHUMT00000446467.2	G			27061104	+1	no_errors	ENST00000268766	ensembl	human	known	70_37	missense	SNP	1.000	A
NFE2L2	4780	genome.wustl.edu	37	2	178096193	178096193	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:178096193C>G	ENST00000397062.3	-	5	1692	c.1138G>C	c.(1138-1140)Gag>Cag	p.E380Q	NFE2L2_ENST00000397063.4_Missense_Mutation_p.E364Q|NFE2L2_ENST00000446151.2_Missense_Mutation_p.E357Q|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E364Q	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	380					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E380*(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			CTATCTAGCTCTTCCACTTCA	0.478			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	1	Substitution - Nonsense(1)	large_intestine(1)											152.0	152.0	152.0					2																	178096193		2181	4296	6477	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.1138G>C	2.37:g.178096193C>G	ENSP00000380252:p.Glu380Gln		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E380Q	ENST00000397062.3	37	c.1138	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.1	3.932168	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627	T;T;T;T	0.33216	2.16;2.16;2.16;1.42	5.83	5.83	0.93111	.	0.135056	0.64402	D	0.000003	T	0.44393	0.1291	M	0.72894	2.215	0.80722	D	1	D;D	0.57899	0.981;0.981	P;P	0.46629	0.522;0.522	T	0.45948	-0.9226	10	0.66056	D	0.02	-16.5333	20.1374	0.98035	0.0:1.0:0.0:0.0	.	357;380	E9PGJ7;Q16236	.;NF2L2_HUMAN	Q	364;380;357;108	ENSP00000380253:E364Q;ENSP00000380252:E380Q;ENSP00000411575:E357Q;ENSP00000391590:E108Q	ENSP00000380252:E380Q	E	-	1	0	NFE2L2	177804439	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.274000	0.78538	2.763000	0.94921	0.563000	0.77884	GAG	NFE2L2	-	superfamily_Serpin_dom		0.478	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178096193	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NFE2L2	4780	genome.wustl.edu	37	2	178097218	178097218	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:178097218C>A	ENST00000397062.3	-	4	1050	c.496G>T	c.(496-498)Gaa>Taa	p.E166*	NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.E150*|NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.E143*|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.E150*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	166					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACAGAAGTTTCAGGTGACTGA	0.458			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	0													69.0	66.0	67.0					2																	178097218		1907	4119	6026	SO:0001587	stop_gained	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.496G>T	2.37:g.178097218C>A	ENSP00000380252:p.Glu166*		B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Nonsense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.E166*	ENST00000397062.3	37	c.496	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.903047	0.97924	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000448782;ENST00000421929	.	.	.	5.94	3.13	0.36017	.	1.617100	0.03055	N	0.155102	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	9.6464	0.39870	0.0:0.6489:0.2272:0.1238	.	.	.	.	X	150;166;143;150;150	.	ENSP00000380252:E166X	E	-	1	0	NFE2L2	177805464	0.059000	0.20769	0.092000	0.20876	0.098000	0.18820	1.106000	0.31098	0.387000	0.25024	0.561000	0.74099	GAA	NFE2L2	-	NULL		0.458	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178097218	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	nonsense	SNP	0.027	A
NFKBIA	4792	genome.wustl.edu	37	14	35872941	35872941	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:35872941C>T	ENST00000216797.5	-	2	392	c.291G>A	c.(289-291)gtG>gtA	p.V97V	NFKBIA_ENST00000557100.1_5'UTR|NFKBIA_ENST00000557140.1_Silent_p.V97V|NFKBIA_ENST00000557389.1_Silent_p.V7V	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	97					apoptotic process (GO:0006915)|cellular response to cold (GO:0070417)|cytoplasmic sequestering of NF-kappaB (GO:0007253)|cytoplasmic sequestering of transcription factor (GO:0042994)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|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 apoptotic process (GO:0043066)|negative regulation of DNA binding (GO:0043392)|negative regulation of lipid storage (GO:0010888)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of Notch signaling pathway (GO:0045746)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein import into nucleus, translocation (GO:0000060)|regulation of cell proliferation (GO:0042127)|regulation of NF-kappaB import into nucleus (GO:0042345)|response to exogenous dsRNA (GO:0043330)|response to muramyl dipeptide (GO:0032495)|T cell receptor signaling pathway (GO:0050852)|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)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|nuclear localization sequence binding (GO:0008139)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)	Acetylsalicylic acid(DB00945)	GGTCTCCCTTCACCTGGCGGA	0.582																																																	0													82.0	68.0	73.0					14																	35872941		2203	4300	6503	SO:0001819	synonymous_variant	4792				CCDS9656.1	14q13	2014-09-17			ENSG00000100906	ENSG00000100906		"""Ankyrin repeat domain containing"""	7797	protein-coding gene	gene with protein product		164008		NFKBI		1829648	Standard	NM_020529		Approved	IKBA, MAD-3, IkappaBalpha	uc001wtf.4	P25963	OTTHUMG00000140220	ENST00000216797.5:c.291G>A	14.37:g.35872941C>T			B2R8L6	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V97	ENST00000216797.5	37	c.291	CCDS9656.1	14																																																																																			NFKBIA	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	NFKBIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFKBIA	HGNC	protein_coding	OTTHUMT00000276683.1	C	NM_020529		35872941	-1	no_errors	ENST00000216797	ensembl	human	known	70_37	silent	SNP	0.260	T
NLRP12	91662	genome.wustl.edu	37	19	54327207	54327207	+	Silent	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:54327207G>C	ENST00000324134.6	-	1	390	c.222C>G	c.(220-222)ctC>ctG	p.L74L	NLRP12_ENST00000535162.1_Silent_p.L74L|NLRP12_ENST00000391775.3_Silent_p.L74L|NLRP12_ENST00000354278.3_Silent_p.L74L|NLRP12_ENST00000391772.1_Silent_p.L74L|NLRP12_ENST00000345770.5_Silent_p.L74L|NLRP12_ENST00000351894.4_Silent_p.L74L|NLRP12_ENST00000391773.1_Silent_p.L74L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	74	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to cytokine stimulus (GO:0071345)|dendritic cell migration (GO:0036336)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 secretion (GO:0050711)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of signal transduction (GO:0009968)|negative regulation of Toll signaling pathway (GO:0045751)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of MHC class I biosynthetic process (GO:0045345)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of interleukin-18 biosynthetic process (GO:0045381)|release of cytoplasmic sequestered NF-kappaB (GO:0008588)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAAAGGTGCTGAGAGCCAACC	0.607																																																	0													101.0	99.0	99.0					19																	54327207		2203	4300	6503	SO:0001819	synonymous_variant	91662			AY095146	CCDS12864.1, CCDS62784.1, CCDS62785.1	19q13.42	2014-09-17	2006-12-08	2006-12-08	ENSG00000142405	ENSG00000142405		"""Nucleotide-binding domain and leucine rich repeat containing"""	22938	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 12"""	609648	"""NACHT, leucine rich repeat and PYD containing 12"""	NALP12		12563287, 12019269	Standard	NM_001277129		Approved	RNO2, PYPAF7, Monarch1, PAN6, CLR19.3	uc002qcj.5	P59046	OTTHUMG00000060776	ENST00000324134.6:c.222C>G	19.37:g.54327207G>C			A8MTQ2|B3KTE7|Q8NEU4|Q9BY26	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.L74	ENST00000324134.6	37	c.222	CCDS12864.1	19																																																																																			NLRP12	-	pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN		0.607	NLRP12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NLRP12	HGNC	protein_coding	OTTHUMT00000134340.1	G	NM_144687		54327207	-1	no_errors	ENST00000324134	ensembl	human	known	70_37	silent	SNP	0.004	C
NPAS4	266743	genome.wustl.edu	37	11	66188674	66188674	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:66188674C>T	ENST00000311034.2	+	1	200	c.24C>T	c.(22-24)gcC>gcT	p.A8A		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	8	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAAGGGCGCCTCCAAGGCGC	0.701																																																	0													26.0	24.0	25.0					11																	66188674		2200	4295	6495	SO:0001819	synonymous_variant	266743			AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.24C>T	11.37:g.66188674C>T			B7ZL81|Q8N8S5|Q8N9Q9	Silent	SNP	pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.A8	ENST00000311034.2	37	c.24	CCDS8138.1	11																																																																																			NPAS4	-	NULL		0.701	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPAS4	HGNC	protein_coding	OTTHUMT00000392634.1	C	NM_178864		66188674	+1	no_errors	ENST00000311034	ensembl	human	known	70_37	silent	SNP	0.995	T
NRK	203447	genome.wustl.edu	37	X	105152804	105152804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:105152804C>T	ENST00000243300.9	+	13	1474	c.1171C>T	c.(1171-1173)Cag>Tag	p.Q391*	NRK_ENST00000428173.2_Nonsense_Mutation_p.Q392*	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	391					activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCTCTCAGCCAAGGTG	0.552										HNSCC(51;0.14)																																							0													48.0	48.0	48.0					X																	105152804		2031	4175	6206	SO:0001587	stop_gained	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1171C>T	X.37:g.105152804C>T	ENSP00000434830:p.Gln391*		Q32ND6|Q5H9K2|Q6ZMP2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.Q392*	ENST00000243300.9	37	c.1174		X	.	.	.	.	.	.	.	.	.	.	C	39	7.771723	0.98480	.	.	ENSG00000123572	ENST00000243300;ENST00000428173	.	.	.	5.05	5.05	0.67936	.	0.000000	0.47455	D	0.000229	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.30854	T	0.27	.	10.6195	0.45472	0.0:0.8106:0.1894:0.0	.	.	.	.	X	391;392	.	ENSP00000434830:Q391X	Q	+	1	0	NRK	105039460	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.233000	0.51311	2.481000	0.83766	0.600000	0.82982	CAG	NRK	-	NULL		0.552	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	C	NM_198465		105152804	+1	no_errors	ENST00000428173	ensembl	human	known	70_37	nonsense	SNP	0.999	T
NRK	203447	genome.wustl.edu	37	X	105153049	105153049	+	Silent	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:105153049G>C	ENST00000243300.9	+	13	1719	c.1416G>C	c.(1414-1416)cgG>cgC	p.R472R	NRK_ENST00000428173.2_Silent_p.R473R	NM_198465.2	NP_940867.2	Q7Z2Y5	NRK_HUMAN	Nik related kinase	472	Gln-rich.				activation of JNKK activity (GO:0007256)|negative regulation of cell proliferation (GO:0008285)|parturition (GO:0007567)|regulation of spongiotrophoblast cell proliferation (GO:0060721)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CACGACTACGGAGGGCAGCCA	0.562										HNSCC(51;0.14)																																							0													40.0	41.0	40.0					X																	105153049		2036	4171	6207	SO:0001819	synonymous_variant	203447			BX538345	CCDS65305.1	Xq22.3	2008-02-05			ENSG00000123572	ENSG00000123572			25391	protein-coding gene	gene with protein product		300791					Standard	NM_198465		Approved	DKFZp686A17109	uc004emd.3	Q7Z2Y5	OTTHUMG00000022143	ENST00000243300.9:c.1416G>C	X.37:g.105153049G>C			Q32ND6|Q5H9K2|Q6ZMP2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.R473	ENST00000243300.9	37	c.1419		X																																																																																			NRK	-	NULL		0.562	NRK-001	KNOWN	non_canonical_conserved|basic|appris_candidate	protein_coding	NRK	HGNC	protein_coding	OTTHUMT00000106480.6	G	NM_198465		105153049	+1	no_errors	ENST00000428173	ensembl	human	known	70_37	silent	SNP	0.000	C
OR2A12	346525	genome.wustl.edu	37	7	143792716	143792716	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:143792716G>T	ENST00000408949.2	+	1	576	c.516G>T	c.(514-516)aaG>aaT	p.K172N		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	172						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCCCACAAAAGATCAACCACT	0.463																																																	0													165.0	153.0	157.0					7																	143792716		1957	4153	6110	SO:0001583	missense	346525				CCDS43670.1	7q35	2013-09-20	2002-11-13	2002-11-13	ENSG00000221858	ENSG00000221858		"""GPCR / Class A : Olfactory receptors"""	15082	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily A, member 12 pseudogene"""	OR2A12P			Standard	NM_001004135		Approved		uc011kty.2	Q8NGT7	OTTHUMG00000157996	ENST00000408949.2:c.516G>T	7.37:g.143792716G>T	ENSP00000386174:p.Lys172Asn		Q6IF43	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K172N	ENST00000408949.2	37	c.516	CCDS43670.1	7	.	.	.	.	.	.	.	.	.	.	G	6.245	0.413243	0.11812	.	.	ENSG00000221858	ENST00000408949	T	0.00107	8.72	4.23	-5.56	0.02529	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00178	0.0005	L	0.50919	1.6	0.09310	N	1	B	0.27229	0.172	P	0.45794	0.493	T	0.23261	-1.0193	9	0.41790	T	0.15	-1.1427	1.4156	0.02301	0.3525:0.25:0.2745:0.1229	.	172	Q8NGT7	O2A12_HUMAN	N	172	ENSP00000386174:K172N	ENSP00000386174:K172N	K	+	3	2	OR2A12	143423649	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.877000	0.00717	-1.333000	0.02247	-1.353000	0.01230	AAG	OR2A12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OR2A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2A12	HGNC	protein_coding	OTTHUMT00000349969.1	G			143792716	+1	no_errors	ENST00000408949	ensembl	human	known	70_37	missense	SNP	0.000	T
OR4C12	283093	genome.wustl.edu	37	11	50003766	50003766	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:50003766G>A	ENST00000335238.4	-	1	305	c.272C>T	c.(271-273)tCc>tTc	p.S91F		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	91						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCATTAAAGGAGATGATTTT	0.428																																																	0													108.0	108.0	108.0					11																	50003766		2201	4296	6497	SO:0001583	missense	283093			BK004413	CCDS31496.1	11p11.12	2012-08-09			ENSG00000221954	ENSG00000221954		"""GPCR / Class A : Olfactory receptors"""	15168	protein-coding gene	gene with protein product							Standard	NM_001005270		Approved		uc010ria.2	Q96R67	OTTHUMG00000166687	ENST00000335238.4:c.272C>T	11.37:g.50003766G>A	ENSP00000334418:p.Ser91Phe		B2RNF0|Q6IF49	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S91F	ENST00000335238.4	37	c.272	CCDS31496.1	11	.	.	.	.	.	.	.	.	.	.	.	10.68	1.418751	0.25552	.	.	ENSG00000221954	ENST00000335238	T	0.00745	5.75	3.31	2.36	0.29203	GPCR, rhodopsin-like superfamily (1);	0.000000	0.41823	U	0.000805	T	0.02767	0.0083	H	0.97340	3.985	0.23747	N	0.996951	B	0.17667	0.023	B	0.20577	0.03	T	0.18524	-1.0334	10	0.72032	D	0.01	.	8.8912	0.35434	0.1198:0.0:0.8802:0.0	.	91	Q96R67	OR4CC_HUMAN	F	91	ENSP00000334418:S91F	ENSP00000334418:S91F	S	-	2	0	OR4C12	49960342	1.000000	0.71417	0.527000	0.27925	0.946000	0.59487	3.973000	0.56845	0.716000	0.32124	0.398000	0.26397	TCC	OR4C12	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.428	OR4C12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C12	HGNC	protein_coding	OTTHUMT00000391104.1	G	NM_001005270		50003766	-1	no_errors	ENST00000335238	ensembl	human	known	70_37	missense	SNP	0.635	A
OR4M1	441670	genome.wustl.edu	37	14	20249054	20249054	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:20249054C>A	ENST00000315957.4	+	1	654	c.573C>A	c.(571-573)aaC>aaA	p.N191K		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTGTGCCAACACCTTCCCAG	0.483																																																	0													322.0	279.0	294.0					14																	20249054		2203	4297	6500	SO:0001583	missense	441670				CCDS32021.1	14q11.2	2013-09-23			ENSG00000176299	ENSG00000176299		"""GPCR / Class A : Olfactory receptors"""	14735	protein-coding gene	gene with protein product							Standard	NM_001005500		Approved		uc010tku.2	Q8NGD0	OTTHUMG00000170599	ENST00000315957.4:c.573C>A	14.37:g.20249054C>A	ENSP00000319654:p.Asn191Lys		B9EH18|Q6IFA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.N191K	ENST00000315957.4	37	c.573	CCDS32021.1	14	.	.	.	.	.	.	.	.	.	.	.	15.52	2.856586	0.51376	.	.	ENSG00000176299	ENST00000315957	T	0.00107	8.72	4.43	1.1	0.20463	GPCR, rhodopsin-like superfamily (1);	0.116572	0.38663	N	0.001620	T	0.00144	0.0004	L	0.55017	1.72	0.33541	D	0.594887	B	0.21905	0.062	B	0.27262	0.078	T	0.42999	-0.9418	10	0.87932	D	0	-7.2801	7.2573	0.26183	0.0:0.6101:0.0:0.3899	.	191	Q8NGD0	OR4M1_HUMAN	K	191	ENSP00000319654:N191K	ENSP00000319654:N191K	N	+	3	2	OR4M1	19318894	0.000000	0.05858	0.999000	0.59377	0.984000	0.73092	-0.577000	0.05847	0.393000	0.25203	0.506000	0.49869	AAC	OR4M1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.483	OR4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4M1	HGNC	protein_coding	OTTHUMT00000409770.1	C			20249054	+1	no_errors	ENST00000315957	ensembl	human	known	70_37	missense	SNP	0.996	A
OXTR	5021	genome.wustl.edu	37	3	8809033	8809033	+	Missense_Mutation	SNP	C	C	T	rs144814761		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:8809033C>T	ENST00000316793.3	-	3	1465	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	CAV3_ENST00000472766.1_Intron	NM_000916.3	NP_000907.2	P30559	OXYR_HUMAN	oxytocin receptor	281					cell surface receptor signaling pathway (GO:0007166)|digestive tract development (GO:0048565)|eating behavior (GO:0042755)|ERK1 and ERK2 cascade (GO:0070371)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|heart development (GO:0007507)|lactation (GO:0007595)|maternal behavior (GO:0042711)|maternal process involved in parturition (GO:0060137)|memory (GO:0007613)|muscle contraction (GO:0006936)|negative regulation of gastric acid secretion (GO:0060455)|positive regulation of blood pressure (GO:0045777)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of norepinephrine secretion (GO:0010701)|positive regulation of penile erection (GO:0060406)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of uterine smooth muscle contraction (GO:0070474)|response to amphetamine (GO:0001975)|response to anoxia (GO:0034059)|response to cocaine (GO:0042220)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to peptide hormone (GO:0043434)|response to progesterone (GO:0032570)|sleep (GO:0030431)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|suckling behavior (GO:0001967)|telencephalon development (GO:0021537)	apical plasma membrane (GO:0016324)|cell-cell adherens junction (GO:0005913)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	oxytocin receptor activity (GO:0004990)|peptide hormone binding (GO:0017046)|vasopressin receptor activity (GO:0005000)			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|urinary_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(96;0.15)	Carbetocin(DB01282)|Oxytocin(DB00107)	AAGGCCAGCACGATGATGAAA	0.627													C|||	1	0.000199681	0.0	0.0	5008	,	,		17422	0.0		0.001	False		,,,				2504	0.0																0								C	MET/VAL	0,4406		0,0,2203	44.0	38.0	40.0		841	5.0	1.0	3	dbSNP_134	40	4,8596	3.7+/-12.6	0,4,4296	yes	missense	OXTR	NM_000916.3	21	0,4,6499	TT,TC,CC		0.0465,0.0,0.0308	probably-damaging	281/390	8809033	4,13002	2203	4300	6503	SO:0001583	missense	5021				CCDS2570.1	3p25	2012-08-08			ENSG00000180914	ENSG00000180914		"""GPCR / Class A : Vasopressin and oxytocin receptors"""	8529	protein-coding gene	gene with protein product		167055				1313946	Standard	NM_000916		Approved		uc003brc.3	P30559	OTTHUMG00000090537	ENST00000316793.3:c.841G>A	3.37:g.8809033C>T	ENSP00000324270:p.Val281Met		Q15071	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn	p.V281M	ENST00000316793.3	37	c.841	CCDS2570.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.591425	0.86851	0.0	4.65E-4	ENSG00000180914	ENST00000316793	T	0.74315	-0.83	4.97	4.97	0.65823	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.86855	0.6033	M	0.81239	2.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88730	0.3236	10	0.87932	D	0	-38.5784	17.1817	0.86857	0.0:1.0:0.0:0.0	.	281	P30559	OXYR_HUMAN	M	281	ENSP00000324270:V281M	ENSP00000324270:V281M	V	-	1	0	OXTR	8784033	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.990000	0.70595	2.466000	0.83321	0.561000	0.74099	GTG	OXTR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.627	OXTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXTR	HGNC	protein_coding	OTTHUMT00000207061.2	C			8809033	-1	no_errors	ENST00000316793	ensembl	human	known	70_37	missense	SNP	1.000	T
OR5H6	79295	genome.wustl.edu	37	3	97983880	97983880	+	Missense_Mutation	SNP	G	G	A	rs145676438	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:97983880G>A	ENST00000383696.2	+	1	793	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	251						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R251Q(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAAGGGATACGAAAAGCTGTC	0.398																																																	1	Substitution - Missense(1)	large_intestine(1)						G	GLN/ARG	1,4405		0,1,2202	51.0	51.0	51.0		752	-3.8	0.0	3	dbSNP_134	51	2,8596		0,2,4297	no	missense	OR5H6	NM_001005479.1	43	0,3,6499	AA,AG,GG		0.0233,0.0227,0.0231	benign	251/326	97983880	3,13001	2203	4299	6502	SO:0001583	missense	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.752G>A	3.37:g.97983880G>A	ENSP00000373196:p.Arg251Gln		Q6IF88	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R251Q	ENST00000383696.2	37	c.752	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	6.714	0.500465	0.12822	2.27E-4	2.33E-4	ENSG00000230301	ENST00000383696	T	0.00130	8.69	2.19	-3.85	0.04243	GPCR, rhodopsin-like superfamily (1);	1.311320	0.05197	N	0.504292	T	0.00109	0.0003	L	0.37507	1.11	0.09310	N	1	P	0.41366	0.747	B	0.37387	0.248	T	0.30297	-0.9983	10	0.17369	T	0.5	.	8.073	0.30699	0.5394:0.0:0.4606:0.0	.	251	Q8NGV6	OR5H6_HUMAN	Q	251	ENSP00000373196:R251Q	ENSP00000373196:R251Q	R	+	2	0	OR5H6	99466570	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-1.703000	0.01900	-1.284000	0.02390	-1.441000	0.01070	CGA	OR5H6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.398	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	G			97983880	+1	no_errors	ENST00000383696	ensembl	human	known	70_37	missense	SNP	0.001	A
PALLD	23022	genome.wustl.edu	37	4	169433387	169433387	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:169433387G>A	ENST00000505667.1	+	2	905	c.732G>A	c.(730-732)caG>caA	p.Q244Q	PALLD_ENST00000335742.7_5'UTR|PALLD_ENST00000333488.4_Silent_p.Q121Q|PALLD_ENST00000261509.6_Silent_p.Q244Q			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	244					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		ATTGCTACCAGGACAACCAGG	0.602									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													85.0	82.0	83.0					4																	169433387		2203	4300	6503	SO:0001819	synonymous_variant	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.732G>A	4.37:g.169433387G>A			B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q244	ENST00000505667.1	37	c.732	CCDS54818.1	4																																																																																			PALLD	-	NULL		0.602	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	G	NM_016081		169433387	+1	no_errors	ENST00000261509	ensembl	human	known	70_37	silent	SNP	0.000	A
PAN3	255967	genome.wustl.edu	37	13	28866556	28866556	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:28866556C>T	ENST00000380958.3	+	19	2713	c.2561C>T	c.(2560-2562)tCc>tTc	p.S854F	PAN3_ENST00000282391.5_Missense_Mutation_p.S542F|PAN3_ENST00000399613.1_Missense_Mutation_p.S654F	NM_175854.7	NP_787050.6			PAN3 poly(A) specific ribonuclease subunit											endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCCTGATTTCCAGAGATGAG	0.363																																																	0													144.0	136.0	139.0					13																	28866556		2203	4300	6503	SO:0001583	missense	255967			AK091307	CCDS9329.1, CCDS9329.2	13q12.2	2014-03-27	2014-03-27		ENSG00000152520	ENSG00000152520			29991	protein-coding gene	gene with protein product			"""PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)"""			14583602	Standard	NM_175854		Approved		uc001urz.3	Q58A45	OTTHUMG00000016645	ENST00000380958.3:c.2561C>T	13.37:g.28866556C>T	ENSP00000370345:p.Ser854Phe			Missense_Mutation	SNP	superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom	p.S854F	ENST00000380958.3	37	c.2561	CCDS9329.2	13	.	.	.	.	.	.	.	.	.	.	C	24.8	4.567035	0.86439	.	.	ENSG00000152520	ENST00000380958;ENST00000399613;ENST00000282391	T;T;T	0.62232	0.04;0.05;0.07	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.84179	0.5415	M	0.91663	3.23	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.999	D;D;D	0.76071	0.987;0.971;0.987	D	0.87491	0.2427	10	0.87932	D	0	-7.106	19.3517	0.94389	0.0:1.0:0.0:0.0	.	854;542;800	Q58A45;Q58A45-2;Q58A45-3	PAN3_HUMAN;.;.	F	854;654;542	ENSP00000370345:S854F;ENSP00000382522:S654F;ENSP00000282391:S542F	ENSP00000282391:S542F	S	+	2	0	PAN3	27764556	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.587000	0.87381	0.655000	0.94253	TCC	PAN3	-	NULL		0.363	PAN3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAN3	HGNC	protein_coding	OTTHUMT00000044318.4	C	NM_175854		28866556	+1	no_errors	ENST00000380958	ensembl	human	known	70_37	missense	SNP	1.000	T
PARP1	142	genome.wustl.edu	37	1	226578157	226578157	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:226578157C>G	ENST00000366794.5	-	4	714	c.571G>C	c.(571-573)Gat>Cat	p.D191H		NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	191					base-excision repair (GO:0006284)|cellular response to insulin stimulus (GO:0032869)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|gene expression (GO:0010467)|macrophage differentiation (GO:0030225)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein ADP-ribosylation (GO:0006471)|protein autoprocessing (GO:0016540)|protein poly-ADP-ribosylation (GO:0070212)|regulation of growth rate (GO:0040009)|signal transduction involved in regulation of gene expression (GO:0023019)|telomere maintenance (GO:0000723)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|NAD binding (GO:0051287)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTTCTTTATCCTCTGTAGCA	0.587								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0													58.0	62.0	60.0					1																	226578157		2203	4300	6503	SO:0001583	missense	142			BC037545	CCDS1554.1	1q41-q42	2010-02-16	2008-07-28	2004-08-26	ENSG00000143799	ENSG00000143799	2.4.2.30	"""Poly (ADP-ribose) polymerases"""	270	protein-coding gene	gene with protein product		173870	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)"", ""poly (ADP-ribose) polymerase family, member 1"""	PPOL, ADPRT		10964595	Standard	NM_001618		Approved	PARP	uc001hqd.4	P09874	OTTHUMG00000037556	ENST00000366794.5:c.571G>C	1.37:g.226578157C>G	ENSP00000355759:p.Asp191His		B1ANJ4|Q8IUZ9	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.D191H	ENST00000366794.5	37	c.571	CCDS1554.1	1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.911717	0.92178	.	.	ENSG00000143799	ENST00000432338;ENST00000366794	T	0.39229	1.09	5.13	5.13	0.70059	Zinc finger, PARP-type (3);	0.000000	0.85682	D	0.000000	T	0.76183	0.3952	H	0.95611	3.695	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84199	0.0449	10	0.87932	D	0	.	18.9648	0.92692	0.0:1.0:0.0:0.0	.	191	P09874	PARP1_HUMAN	H	191	ENSP00000355759:D191H	ENSP00000355759:D191H	D	-	1	0	PARP1	224644780	1.000000	0.71417	0.887000	0.34795	0.929000	0.56500	7.818000	0.86416	2.523000	0.85059	0.655000	0.94253	GAT	PARP1	-	pfam_Znf_PARP,pirsf_NAD_ADPRT,pfscan_Znf_PARP		0.587	PARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP1	HGNC	protein_coding	OTTHUMT00000091519.1	C	NM_001618		226578157	-1	no_errors	ENST00000366794	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDH18	54510	genome.wustl.edu	37	4	138453180	138453180	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:138453180G>A	ENST00000344876.4	-	1	449	c.63C>T	c.(61-63)ttC>ttT	p.F21F	PCDH18_ENST00000412923.2_Silent_p.F21F|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000507846.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	21					brain development (GO:0007420)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CATCGTGGTTGAAAGATACTA	0.383																																																	0													130.0	130.0	130.0					4																	138453180		2203	4300	6503	SO:0001819	synonymous_variant	54510			AL137471	CCDS34064.1, CCDS75193.1	4q28.3	2010-01-26			ENSG00000189184	ENSG00000189184		"""Cadherins / Protocadherins : Non-clustered"""	14268	protein-coding gene	gene with protein product		608287				10835267, 11549318	Standard	XM_005263070		Approved	KIAA1562, PCDH68L	uc003ihe.4	Q9HCL0	OTTHUMG00000161348	ENST00000344876.4:c.63C>T	4.37:g.138453180G>A			A8K7K3|B7ZKT1|Q52LS2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F21	ENST00000344876.4	37	c.63	CCDS34064.1	4																																																																																			PCDH18	-	NULL		0.383	PCDH18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH18	HGNC	protein_coding	OTTHUMT00000364614.1	G	NM_019035		138453180	-1	no_errors	ENST00000344876	ensembl	human	known	70_37	silent	SNP	0.100	A
PCDHA13	56136	genome.wustl.edu	37	5	140263677	140263677	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr5:140263677G>A	ENST00000289272.2	+	1	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Silent_p.S608S|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	608	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682																																					Melanoma(147;1739 1852 5500 27947 37288)												0													68.0	72.0	71.0					5																	140263677		2202	4298	6500	SO:0001819	synonymous_variant	56136			AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1824G>A	5.37:g.140263677G>A			O75277	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S608	ENST00000289272.2	37	c.1824	CCDS4240.1	5																																																																																			PCDHA13	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.682	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA13	HGNC	protein_coding	OTTHUMT00000335000.1	G	NM_018904		140263677	+1	no_errors	ENST00000289272	ensembl	human	known	70_37	silent	SNP	0.009	A
PCDHGA5	56110	genome.wustl.edu	37	5	140744563	140744563	+	Silent	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr5:140744563C>G	ENST00000518069.1	+	1	666	c.666C>G	c.(664-666)ctC>ctG	p.L222L	PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	222	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCCGGTACTCTCCGGCACCA	0.567																																																	0													71.0	72.0	71.0					5																	140744563		2064	4206	6270	SO:0001819	synonymous_variant	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.666C>G	5.37:g.140744563C>G			Q2M3F5|Q9Y5D2	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L222	ENST00000518069.1	37	c.666	CCDS54925.1	5																																																																																			PCDHGA5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.567	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	C	NM_018918		140744563	+1	no_errors	ENST00000518069	ensembl	human	known	70_37	silent	SNP	0.243	G
PCLO	27445	genome.wustl.edu	37	7	82595426	82595426	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:82595426C>G	ENST00000333891.9	-	4	4015	c.3678G>C	c.(3676-3678)aaG>aaC	p.K1226N	PCLO_ENST00000423517.2_Missense_Mutation_p.K1226N	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CAGAACGTATCTTTTCTTCTT	0.388																																																	0													198.0	191.0	193.0					7																	82595426		1801	4068	5869	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3678G>C	7.37:g.82595426C>G	ENSP00000334319:p.Lys1226Asn			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.K1226N	ENST00000333891.9	37	c.3678	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	5.911	0.352214	0.11182	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.17528	2.27;2.28	4.21	-0.674	0.11369	.	.	.	.	.	T	0.12178	0.0296	L	0.27053	0.805	0.09310	N	1	B;B	0.21225	0.053;0.053	B;B	0.20955	0.032;0.032	T	0.30387	-0.9980	9	0.87932	D	0	.	9.8893	0.41281	0.0:0.459:0.0:0.541	.	1226;1226	Q9Y6V0-5;Q9Y6V0-6	.;.	N	1165;1226;1226	ENSP00000334319:K1226N;ENSP00000388393:K1226N	ENSP00000334319:K1226N	K	-	3	2	PCLO	82433362	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	0.412000	0.21131	-0.138000	0.11434	-0.793000	0.03317	AAG	PCLO	-	NULL		0.388	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	C	NM_014510		82595426	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	missense	SNP	0.000	G
PELI3	246330	genome.wustl.edu	37	11	66240739	66240739	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:66240739G>A	ENST00000320740.7	+	6	644	c.484G>A	c.(484-486)Gac>Aac	p.D162N	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000349459.6_Missense_Mutation_p.D138N|PELI3_ENST00000524466.1_Missense_Mutation_p.D162N|CTD-3074O7.5_ENST00000527092.1_RNA|CTD-3074O7.5_ENST00000602951.1_RNA|PELI3_ENST00000531856.1_Intron	NM_001243136.1|NM_145065.2	NP_001230065.1|NP_659502.2	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	162					defense response to Gram-negative bacterium (GO:0050829)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of Toll signaling pathway (GO:0045751)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|negative regulation of type I interferon production (GO:0032480)|positive regulation of nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070434)|protein K63-linked ubiquitination (GO:0070534)|regulation of nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070428)|Toll signaling pathway (GO:0008063)	cytosol (GO:0005829)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GAACATGATTGACTTCGTGGT	0.597																																																	0													68.0	68.0	68.0					11																	66240739		2200	4295	6495	SO:0001583	missense	246330			AL834395	CCDS31615.1, CCDS41675.1, CCDS73328.1	11q13.2	2012-02-23	2012-02-23		ENSG00000174516	ENSG00000174516		"""Pellino homologs"""	30010	protein-coding gene	gene with protein product		609827	"""pellino homolog 3 (Drosophila)"""			12874243, 15917247	Standard	NM_145065		Approved	MGC35521	uc001oic.4	Q8N2H9	OTTHUMG00000167109	ENST00000320740.7:c.484G>A	11.37:g.66240739G>A	ENSP00000322532:p.Asp162Asn		Q8N3E1|Q8N9Q6|Q8TAW7|Q8TED5	Missense_Mutation	SNP	pfam_Pellino	p.D162N	ENST00000320740.7	37	c.484	CCDS31615.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.526340	0.96431	.	.	ENSG00000174516	ENST00000349459;ENST00000320740;ENST00000524466;ENST00000526296	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.88906	2.99	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;0.997;1.0	D	0.83628	0.0143	10	0.87932	D	0	-40.0078	16.2303	0.82332	0.0:0.0:1.0:0.0	.	138;162;162	Q8N2H9-2;Q8N2H9;Q8N2H9-4	.;PELI3_HUMAN;.	N	138;162;162;55	ENSP00000309848:D138N;ENSP00000322532:D162N;ENSP00000434677:D162N;ENSP00000436722:D55N	ENSP00000322532:D162N	D	+	1	0	PELI3	65997315	1.000000	0.71417	0.993000	0.49108	0.988000	0.76386	9.657000	0.98554	2.688000	0.91661	0.655000	0.94253	GAC	PELI3	-	pfam_Pellino		0.597	PELI3-001	KNOWN	basic|CCDS	protein_coding	PELI3	HGNC	protein_coding	OTTHUMT00000393226.1	G	NM_145065		66240739	+1	no_errors	ENST00000320740	ensembl	human	known	70_37	missense	SNP	1.000	A
PHF2	5253	genome.wustl.edu	37	9	96339125	96339125	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:96339125G>C	ENST00000359246.4	+	1	437	c.70G>C	c.(70-72)Gac>Cac	p.D24H	PHF2_ENST00000375376.4_Missense_Mutation_p.D24H	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	24				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637). {ECO:0000305}.	liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GATCGAGTGCGACGCCTGCAA	0.761																																																	0													22.0	19.0	20.0					9																	96339125		2197	4291	6488	SO:0001583	missense	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.70G>C	9.37:g.96339125G>C	ENSP00000352185:p.Asp24His		Q4VXG0|Q8N3K2|Q9Y6N4	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.D24H	ENST00000359246.4	37	c.70	CCDS35069.1	9	.	.	.	.	.	.	.	.	.	.	G	16.81	3.226674	0.58668	.	.	ENSG00000197724	ENST00000359246;ENST00000375376	T;T	0.12984	2.63;2.63	2.19	2.19	0.27852	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.51477	U	0.000082	T	0.47097	0.1427	H	0.95611	3.695	0.42183	D	0.991691	D	0.89917	1.0	D	0.83275	0.996	T	0.64002	-0.6509	10	0.87932	D	0	.	12.5599	0.56275	0.0:0.0:1.0:0.0	.	24	O75151	PHF2_HUMAN	H	24	ENSP00000352185:D24H;ENSP00000364525:D24H	ENSP00000352185:D24H	D	+	1	0	PHF2	95378946	1.000000	0.71417	0.997000	0.53966	0.658000	0.38924	6.998000	0.76277	0.939000	0.37446	0.163000	0.16589	GAC	PHF2	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger		0.761	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF2	HGNC	protein_coding	OTTHUMT00000053162.1	G	NM_005392		96339125	+1	no_errors	ENST00000359246	ensembl	human	known	70_37	missense	SNP	1.000	C
PHRF1	57661	genome.wustl.edu	37	11	610993	610993	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:610993G>A	ENST00000264555.5	+	17	4845	c.4717G>A	c.(4717-4719)Gag>Aag	p.E1573K	PHRF1_ENST00000413872.2_Missense_Mutation_p.E1571K|PHRF1_ENST00000416188.2_Missense_Mutation_p.E1572K|PHRF1_ENST00000533464.1_Missense_Mutation_p.E1569K	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1573					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TGCTGTGGAGGAGGTGAAGCT	0.597																																																	0													91.0	93.0	92.0					11																	610993		2202	4300	6502	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.4717G>A	11.37:g.610993G>A	ENSP00000264555:p.Glu1573Lys		A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E1573K	ENST00000264555.5	37	c.4717		11	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661261	0.67700	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	4.34	4.34	0.51931	.	0.000000	0.36338	N	0.002643	D	0.83198	0.5202	M	0.82823	2.61	0.58432	D	0.999997	D;D;D;D	0.89917	0.982;0.999;1.0;1.0	D;D;D;D	0.87578	0.952;0.997;0.998;0.996	D	0.86561	0.1841	10	0.87932	D	0	-37.3089	17.7367	0.88395	0.0:0.0:1.0:0.0	.	1569;1571;1572;1573	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	K	1573;1571;1572;1569	ENSP00000264555:E1573K;ENSP00000388589:E1571K;ENSP00000410626:E1572K;ENSP00000431870:E1569K	ENSP00000264555:E1573K	E	+	1	0	PHRF1	600993	1.000000	0.71417	1.000000	0.80357	0.296000	0.27459	9.781000	0.99029	2.370000	0.80446	0.561000	0.74099	GAG	PHRF1	-	NULL		0.597	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	G	NM_020901		610993	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	1.000	A
PITHD1	57095	genome.wustl.edu	37	1	24112168	24112168	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:24112168C>G	ENST00000246151.4	+	4	435	c.324C>G	c.(322-324)taC>taG	p.Y108*	PITHD1_ENST00000374524.1_5'UTR	NM_020362.4	NP_065095.2	Q9GZP4	PITH1_HUMAN	PITH (C-terminal proteasome-interacting domain of thioredoxin-like) domain containing 1	108	PITH. {ECO:0000255|PROSITE- ProRule:PRU00864}.					nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	6						TTCTCAGGTACAAGAATATTC	0.378																																																	0													73.0	70.0	71.0					1																	24112168		2203	4300	6503	SO:0001587	stop_gained	57095				CCDS240.1	1p36.11	2011-02-21	2011-02-21	2011-02-21	ENSG00000057757	ENSG00000057757			25022	protein-coding gene	gene with protein product	"""TXNL1 C-terminal like"""		"""chromosome 1 open reading frame 128"""	C1orf128		12477932	Standard	NM_020362		Approved	HT014, TXNL1CL	uc001bhq.3	Q9GZP4	OTTHUMG00000002960	ENST00000246151.4:c.324C>G	1.37:g.24112168C>G	ENSP00000246151:p.Tyr108*		B2R7J4|Q5QPN6|Q5QPN7|Q9NRI8	Nonsense_Mutation	SNP	pfam_PITH_dom,superfamily_Galactose-bd-like	p.Y108*	ENST00000246151.4	37	c.324	CCDS240.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.233960	0.95207	.	.	ENSG00000057757	ENST00000246151;ENST00000415372	.	.	.	5.81	2.84	0.33178	.	0.154295	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-1.4388	8.225	0.31564	0.0:0.5967:0.0:0.4033	.	.	.	.	X	108;15	.	ENSP00000246151:Y108X	Y	+	3	2	PITHD1	23984755	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.535000	0.45685	0.341000	0.23771	0.655000	0.94253	TAC	PITHD1	-	pfam_PITH_dom,superfamily_Galactose-bd-like		0.378	PITHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PITHD1	HGNC	protein_coding	OTTHUMT00000008243.1	C	NM_020362		24112168	+1	no_errors	ENST00000246151	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PITX2	5308	genome.wustl.edu	37	4	111542526	111542526	+	Splice_Site	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:111542526C>T	ENST00000354925.2	-	6	1890		c.e6-1		PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000355080.5_Splice_Site|PITX2_ENST00000306732.3_Splice_Site|PITX2_ENST00000394598.2_Splice_Site|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Splice_Site	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TTATCTTTCTCTGAAAACGAA	0.597																																																	0			GRCh37	CS004085|CS044764	PITX2	S							53.0	51.0	52.0					4																	111542526		2203	4300	6503	SO:0001630	splice_region_variant	5308			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.185-1G>A	4.37:g.111542526C>T			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Splice_Site	SNP	-	e2-1	ENST00000354925.2	37	c.206-1	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	C	25.9	4.689764	0.88735	.	.	ENSG00000164093	ENST00000306732;ENST00000394598;ENST00000355080;ENST00000354925;ENST00000511837;ENST00000511990	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4788	0.95000	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PITX2	111761975	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.374000	0.79633	2.676000	0.91093	0.655000	0.94253	.	PITX2	-	-		0.597	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2	C		Intron	111542526	-1	no_errors	ENST00000306732	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PIWIL1	9271	genome.wustl.edu	37	12	130856118	130856118	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:130856118T>C	ENST00000245255.3	+	21	2833	c.2561T>C	c.(2560-2562)cTg>cCg	p.L854P		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	854					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		AATCTGTCACTGTCAAACCGC	0.433																																																	0													136.0	129.0	131.0					12																	130856118		2203	4300	6503	SO:0001583	missense	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.2561T>C	12.37:g.130856118T>C	ENSP00000245255:p.Leu854Pro		A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L854P	ENST00000245255.3	37	c.2561	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	T	24.6	4.552345	0.86127	.	.	ENSG00000125207	ENST00000245255	T	0.16743	2.32	5.31	5.31	0.75309	Ribonuclease H-like (1);	0.000000	0.64402	D	0.000001	T	0.57666	0.2069	H	0.97732	4.065	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74112	-0.3770	10	0.87932	D	0	-13.1469	14.4539	0.67404	0.0:0.0:0.0:1.0	.	854	Q96J94	PIWL1_HUMAN	P	854	ENSP00000245255:L854P	ENSP00000245255:L854P	L	+	2	0	PIWIL1	129422071	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	8.012000	0.88631	1.992000	0.58205	0.533000	0.62120	CTG	PIWIL1	-	superfamily_RNaseH-like_dom		0.433	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	T			130856118	+1	no_errors	ENST00000245255	ensembl	human	known	70_37	missense	SNP	1.000	C
PLXNA1	5361	genome.wustl.edu	37	3	126737155	126737155	+	Nonsense_Mutation	SNP	G	G	T	rs375219341		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:126737155G>T	ENST00000393409.2	+	19	3679	c.3679G>T	c.(3679-3681)Gag>Tag	p.E1227*	PLXNA1_ENST00000251772.4_Nonsense_Mutation_p.E1204*	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1227	IPT/TIG 4.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGTGGCTTCGAGTTCTCGCC	0.647																																																	0													36.0	37.0	37.0					3																	126737155		2197	4299	6496	SO:0001587	stop_gained	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.3679G>T	3.37:g.126737155G>T	ENSP00000377061:p.Glu1227*			Nonsense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E1227*	ENST00000393409.2	37	c.3679	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	41	9.113046	0.99069	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	.	.	.	4.18	3.29	0.37713	.	0.381624	0.22553	N	0.058580	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	12.9937	0.58634	0.0:0.1637:0.8363:0.0	.	.	.	.	X	1227;1204	.	ENSP00000251772:E1204X	E	+	1	0	PLXNA1	128219845	1.000000	0.71417	0.954000	0.39281	0.688000	0.40055	5.367000	0.66127	0.938000	0.37419	0.467000	0.42956	GAG	PLXNA1	-	superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.647	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126737155	+1	no_errors	ENST00000393409	ensembl	human	known	70_37	nonsense	SNP	0.995	T
PLXNC1	10154	genome.wustl.edu	37	12	94676114	94676114	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:94676114C>T	ENST00000258526.4	+	23	4065	c.3816C>T	c.(3814-3816)atC>atT	p.I1272I	PLXNC1_ENST00000547057.1_Silent_p.I319I|RP11-1105G2.3_ENST00000547927.1_Intron|PLXNC1_ENST00000545312.1_Silent_p.I11I|RP11-1105G2.3_ENST00000551941.1_5'Flank	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1272					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTCTGGACATCGACAGTTCCT	0.428																																																	0													137.0	130.0	132.0					12																	94676114		2203	4300	6503	SO:0001819	synonymous_variant	10154			AF030339	CCDS9049.1	12q23	2009-04-17				ENSG00000136040		"""CD molecules"", ""Plexins"""	9106	protein-coding gene	gene with protein product		604259					Standard	NR_037687		Approved	VESPR, CD232	uc001tdc.3	O60486	OTTHUMG00000170235	ENST00000258526.4:c.3816C>T	12.37:g.94676114C>T			Q59H25	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.I1272	ENST00000258526.4	37	c.3816	CCDS9049.1	12																																																																																			PLXNC1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.428	PLXNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNC1	HGNC	protein_coding	OTTHUMT00000408126.2	C			94676114	+1	no_errors	ENST00000258526	ensembl	human	known	70_37	silent	SNP	0.959	T
PRKDC	5591	genome.wustl.edu	37	8	48701765	48701765	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:48701765G>C	ENST00000314191.2	-	76	10758	c.10702C>G	c.(10702-10704)Caa>Gaa	p.Q3568E	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q3568E	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3569					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	ATAAAATCTTGAATCACTCCT	0.294								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													66.0	61.0	63.0					8																	48701765		1797	4063	5860	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.10702C>G	8.37:g.48701765G>C	ENSP00000313420:p.Gln3568Glu		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q3568E	ENST00000314191.2	37	c.10702		8	.	.	.	.	.	.	.	.	.	.	G	6.708	0.499300	0.12762	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02050	4.54;4.48	5.72	4.84	0.62591	.	0.114208	0.64402	D	0.000011	T	0.03178	0.0093	L	0.49640	1.575	0.45791	D	0.998678	B;B	0.14805	0.011;0.011	B;B	0.12837	0.008;0.007	T	0.38672	-0.9650	10	0.09590	T	0.72	.	15.8254	0.78703	0.0:0.136:0.864:0.0	.	3568;3569	E7EUY0;P78527	.;PRKDC_HUMAN	E	3568	ENSP00000313420:Q3568E;ENSP00000345182:Q3568E	ENSP00000313420:Q3568E	Q	-	1	0	PRKDC	48864318	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.631000	0.54280	1.411000	0.46957	0.655000	0.94253	CAA	PRKDC	-	NULL		0.294	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48701765	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	1.000	C
PROSC	11212	genome.wustl.edu	37	8	37630362	37630362	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:37630362G>A	ENST00000328195.3	+	5	476	c.409G>A	c.(409-411)Gaa>Aaa	p.E137K		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	137					alpha-amino acid metabolic process (GO:1901605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|mitochondrion (GO:0005739)	pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)	AGGTTCTCCTGAAAGGTTAAA	0.428																																																	0													118.0	114.0	115.0					8																	37630362		2203	4300	6503	SO:0001583	missense	11212			AB018566	CCDS6096.1	8p11.2	2008-01-07	2001-12-04		ENSG00000147471	ENSG00000147471			9457	protein-coding gene	gene with protein product		604436	"""proline synthetase co-transcribed (bacterial homolog)"""				Standard	NM_007198		Approved		uc003xkh.3	O94903	OTTHUMG00000164024	ENST00000328195.3:c.409G>A	8.37:g.37630362G>A	ENSP00000333551:p.Glu137Lys		Q6FI94	Missense_Mutation	SNP	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001	p.E137K	ENST00000328195.3	37	c.409	CCDS6096.1	8	.	.	.	.	.	.	.	.	.	.	G	15.30	2.791590	0.50102	.	.	ENSG00000147471	ENST00000328195;ENST00000523358;ENST00000523187;ENST00000523521	T;T;T;T	0.38722	1.12;1.12;1.12;1.12	5.87	4.99	0.66335	Alanine racemase, N-terminal (1);	0.105878	0.64402	D	0.000003	T	0.25195	0.0612	N	0.13140	0.3	0.80722	D	1	B	0.12013	0.005	B	0.22152	0.038	T	0.06661	-1.0814	10	0.09590	T	0.72	-8.3544	12.6064	0.56525	0.0:0.1266:0.7419:0.1315	.	137	O94903	PROSC_HUMAN	K	137;137;85;56	ENSP00000333551:E137K;ENSP00000427778:E137K;ENSP00000427886:E85K;ENSP00000429425:E56K	ENSP00000333551:E137K	E	+	1	0	PROSC	37749520	1.000000	0.71417	0.581000	0.28614	0.969000	0.65631	5.347000	0.65998	1.479000	0.48272	0.655000	0.94253	GAA	PROSC	-	pfam_Ala_racemase_N,pirsf_UPF0001,tigrfam_UPF0001		0.428	PROSC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSC	HGNC	protein_coding	OTTHUMT00000376796.1	G	NM_007198		37630362	+1	no_errors	ENST00000328195	ensembl	human	known	70_37	missense	SNP	0.978	A
PRKDC	5591	genome.wustl.edu	37	8	48794602	48794602	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:48794602C>G	ENST00000314191.2	-	38	4886	c.4830G>C	c.(4828-4830)caG>caC	p.Q1610H	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.Q1610H	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1611					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CTTGGTGTTTCTGGTTTGCTC	0.443								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													149.0	141.0	144.0					8																	48794602		1911	4128	6039	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.4830G>C	8.37:g.48794602C>G	ENSP00000313420:p.Gln1610His		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.Q1610H	ENST00000314191.2	37	c.4830		8	.	.	.	.	.	.	.	.	.	.	C	13.24	2.176917	0.38413	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.02682	4.27;4.2	5.28	2.42	0.29668	Armadillo-like helical (1);Armadillo-type fold (1);	0.304279	0.29676	N	0.011494	T	0.03915	0.0110	L	0.44542	1.39	0.28541	N	0.912127	P;P	0.41041	0.736;0.736	P;P	0.44447	0.45;0.45	T	0.19321	-1.0309	10	0.72032	D	0.01	.	6.3109	0.21164	0.0:0.5198:0.2638:0.2164	.	1610;1611	E7EUY0;P78527	.;PRKDC_HUMAN	H	1610	ENSP00000313420:Q1610H;ENSP00000345182:Q1610H	ENSP00000313420:Q1610H	Q	-	3	2	PRKDC	48957155	0.999000	0.42202	0.012000	0.15200	0.416000	0.31233	0.647000	0.24812	0.606000	0.29965	0.460000	0.39030	CAG	PRKDC	-	superfamily_ARM-type_fold		0.443	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		C	NM_001081640		48794602	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.990	G
PTPRG	5793	genome.wustl.edu	37	3	62263226	62263226	+	Splice_Site	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:62263226G>A	ENST00000474889.1	+	26	4014	c.3637G>A	c.(3637-3639)Ggc>Agc	p.G1213S	PTPRG-AS1_ENST00000466893.1_RNA|PTPRG_ENST00000295874.10_Splice_Site_p.G1184S|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1213	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CCAACTGAAGGGCTATTATAG	0.338																																																	0													70.0	71.0	71.0					3																	62263226		2203	4300	6503	SO:0001630	splice_region_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3637-1G>A	3.37:g.62263226G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.G1213S	ENST00000474889.1	37	c.3637	CCDS2895.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.105160	0.94245	.	.	ENSG00000144724	ENST00000474889;ENST00000295874	T;T	0.14766	2.48;2.48	5.8	5.8	0.92144	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.098157	0.64402	D	0.000001	T	0.41143	0.1146	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.97110	1.0;0.996;0.992	T	0.04752	-1.0929	9	.	.	.	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	459;1184;1213	B7Z3T1;P23470-2;P23470	.;.;PTPRG_HUMAN	S	1213;1184	ENSP00000418112:G1213S;ENSP00000295874:G1184S	.	G	+	1	0	PTPRG	62238266	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	9.823000	0.99369	2.740000	0.93945	0.650000	0.86243	GGC	PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.338	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	G	NM_002841	Missense_Mutation	62263226	+1	no_errors	ENST00000474889	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRK	5796	genome.wustl.edu	37	6	128403634	128403634	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:128403634C>T	ENST00000368215.3	-	10	1724	c.1725G>A	c.(1723-1725)acG>acA	p.T575T	PTPRK_ENST00000532331.1_Silent_p.T575T|PTPRK_ENST00000368227.3_Silent_p.T575T|RP11-103C16.2_ENST00000417390.1_RNA|PTPRK_ENST00000368213.5_Silent_p.T575T|PTPRK_ENST00000368226.4_Silent_p.T575T|PTPRK_ENST00000368210.3_Silent_p.T575T|PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368207.3_Silent_p.T575T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	575	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		AGCCTTTGACCGTGCTGGCTC	0.428																																																	0													147.0	145.0	146.0					6																	128403634		2203	4300	6503	SO:0001819	synonymous_variant	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.1725G>A	6.37:g.128403634C>T			B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.T575	ENST00000368215.3	37	c.1725		6																																																																																			PTPRK	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.428	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	C			128403634	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	silent	SNP	0.008	T
PTPRU	10076	genome.wustl.edu	37	1	29652239	29652239	+	IGR	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:29652239G>A	ENST00000345512.3	+	0	4470				PTPRU_ENST00000356870.3_3'UTR|PTPRU_ENST00000460170.2_3'UTR|PTPRU_ENST00000323874.8_3'UTR|PTPRU_ENST00000428026.2_3'UTR|PTPRU_ENST00000373779.3_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U						canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GACTGGCGAGGAAGATCAGTG	0.642																																																	0													64.0	55.0	58.0					1																	29652239		692	1591	2283	SO:0001628	intergenic_variant	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699		1.37:g.29652239G>A			A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	RNA	SNP	-	NULL	ENST00000345512.3	37	NULL	CCDS334.1	1																																																																																			PTPRU	-	-		0.642	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	G			29652239	+1	no_errors	ENST00000465525	ensembl	human	known	70_37	rna	SNP	0.210	A
PURG	29942	genome.wustl.edu	37	8	30889906	30889906	+	Silent	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:30889906C>G	ENST00000475541.1	-	1	1325	c.393G>C	c.(391-393)ctG>ctC	p.L131L	WRN_ENST00000298139.5_5'Flank|PURG_ENST00000339382.2_Silent_p.L131L	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	131						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GGTGGCCTTTCAGGCCCAGGT	0.592																																																	0													84.0	86.0	85.0					8																	30889906		2203	4300	6503	SO:0001819	synonymous_variant	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.393G>C	8.37:g.30889906C>G			Q8TE64	Silent	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.L131	ENST00000475541.1	37	c.393	CCDS6081.1	8																																																																																			PURG	-	pfam_PUR_DNA_RNA-bd		0.592	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	C	NM_013357		30889906	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	silent	SNP	1.000	G
RAD23B	5887	genome.wustl.edu	37	9	110068879	110068879	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:110068879G>A	ENST00000358015.3	+	4	799	c.448G>A	c.(448-450)Gaa>Aaa	p.E150K	RAD23B_ENST00000416373.2_Missense_Mutation_p.E78K	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	150					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAAGCCTGCAGAAAAGCCAGC	0.507								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													50.0	53.0	52.0					9																	110068879		2203	4300	6503	SO:0001583	missense	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.448G>A	9.37:g.110068879G>A	ENSP00000350708:p.Glu150Lys		B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Missense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.E150K	ENST00000358015.3	37	c.448	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	G	21.1	4.104111	0.76983	.	.	ENSG00000119318	ENST00000358015;ENST00000374678;ENST00000416373	T;T	0.18338	2.25;2.22	5.61	5.61	0.85477	.	0.225389	0.46442	D	0.000293	T	0.40119	0.1104	M	0.63843	1.955	0.58432	D	0.999996	D;D;D	0.69078	0.993;0.997;0.993	D;D;D	0.73380	0.971;0.98;0.971	T	0.02345	-1.1173	10	0.23891	T	0.37	-4.9787	19.6415	0.95760	0.0:0.0:1.0:0.0	.	129;150;150	B7Z4W4;B4DEA3;P54727	.;.;RD23B_HUMAN	K	150;78;78	ENSP00000350708:E150K;ENSP00000405623:E78K	ENSP00000350708:E150K	E	+	1	0	RAD23B	109108700	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.349000	0.66010	2.638000	0.89438	0.563000	0.77884	GAA	RAD23B	-	tigrfam_Rad23		0.507	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	G	NM_002874		110068879	+1	no_errors	ENST00000358015	ensembl	human	known	70_37	missense	SNP	1.000	A
RAPGEF2	9693	genome.wustl.edu	37	4	160253725	160253725	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:160253725G>C	ENST00000264431.4	+	11	1947	c.1528G>C	c.(1528-1530)Gaa>Caa	p.E510Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	510					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGTAGATGTAGAACAGGTGAT	0.423																																																	0													95.0	88.0	91.0					4																	160253725		1892	4121	6013	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.1528G>C	4.37:g.160253725G>C	ENSP00000264431:p.Glu510Gln		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.E510Q	ENST00000264431.4	37	c.1528	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	32|32	5.166002|5.166002	0.94768|0.94768	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000264431|ENST00000512056	T|.	0.39229|.	1.09|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Ras guanine nucleotide exchange factor, domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73024|0.73024	0.3534|0.3534	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.64144|.	0.922|.	T|T	0.69932|0.69932	-0.5011|-0.5011	10|5	0.39692|.	T|.	0.17|.	.|.	19.4675|19.4675	0.94948|0.94948	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	510|.	Q9Y4G8|.	RPGF2_HUMAN|.	Q|T	510|147	ENSP00000264431:E510Q|.	ENSP00000264431:E510Q|.	E|R	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160473175|160473175	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.975000|0.975000	0.68041|0.68041	9.510000|9.510000	0.98004|0.98004	2.602000|2.602000	0.87976|0.87976	0.655000|0.655000	0.94253|0.94253	GAA|AGA	RAPGEF2	-	superfamily_Ras_GEF_dom		0.423	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	G	NM_014247		160253725	+1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	C
RELN	5649	genome.wustl.edu	37	7	103141295	103141295	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:103141295C>T	ENST00000428762.1	-	53	8723	c.8564G>A	c.(8563-8565)gGa>gAa	p.G2855E	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000424685.2_Missense_Mutation_p.G2855E|RELN_ENST00000343529.5_Missense_Mutation_p.G2855E	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2855	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTCCAAGCATCCAGGGCCCAG	0.493																																					NSCLC(146;835 1944 15585 22231 52158)												0													182.0	169.0	174.0					7																	103141295		2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.8564G>A	7.37:g.103141295C>T	ENSP00000392423:p.Gly2855Glu		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G2855E	ENST00000428762.1	37	c.8564	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	C	10.46	1.355488	0.24598	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000424828;ENST00000448171	T;T;T	0.21031	2.03;2.03;2.03	5.17	4.28	0.50868	Neuraminidase (2);Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.121289	0.56097	D	0.000032	T	0.09949	0.0244	N	0.02916	-0.46	0.46376	D	0.999012	B;B	0.14805	0.004;0.011	B;B	0.14578	0.008;0.011	T	0.10200	-1.0640	10	0.44086	T	0.13	.	12.4436	0.55639	0.0:0.9167:0.0:0.0833	.	2855;2855	P78509-2;P78509	.;RELN_HUMAN	E	2855;2855;2855;372;2855	ENSP00000392423:G2855E;ENSP00000345694:G2855E;ENSP00000388446:G2855E	ENSP00000345694:G2855E	G	-	2	0	RELN	102928531	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.810000	0.62598	1.116000	0.41820	0.655000	0.94253	GGA	RELN	-	superfamily_Neuraminidase,smart_EG-like_dom		0.493	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103141295	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	T
SCARF1	8578	genome.wustl.edu	37	17	1551691	1551691	+	5'Flank	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr17:1551691G>C	ENST00000263071.4	-	0	0				RILP_ENST00000301336.6_Silent_p.L258L|SCARF1_ENST00000348987.3_5'Flank|SCARF1_ENST00000571272.1_5'Flank	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1						cell adhesion (GO:0007155)|cholesterol catabolic process (GO:0006707)|dendrite development (GO:0016358)|neuron remodeling (GO:0016322)|positive regulation of axon regeneration (GO:0048680)|positive regulation of neuron projection development (GO:0010976)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	endocytic vesicle membrane (GO:0030666)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)|transmembrane signaling receptor activity (GO:0004888)			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTTTGGCTTTGAGTTCATTCC	0.642																																																	0													59.0	54.0	55.0					17																	1551691		2203	4300	6503	SO:0001631	upstream_gene_variant	83547			D63483	CCDS11007.1, CCDS45564.1	17p13.3	2008-07-18			ENSG00000074660	ENSG00000074660			16820	protein-coding gene	gene with protein product	"""scavenger receptor expressed by endothelial cells"", ""acetyl LDL receptor"""	607873				9395444, 8590280	Standard	NM_003693		Approved	SREC, KIAA0149	uc002fsz.2	Q14162	OTTHUMG00000090555		17.37:g.1551691G>C	Exception_encountered		A8MQ05|O43701|Q8NHD2|Q8NHD3|Q8NHD4|Q8NHD5	Silent	SNP	pfam_RILP,pfam_JNK/Rab-associated_protein-1_N	p.L258	ENST00000263071.4	37	c.774	CCDS11007.1	17																																																																																			RILP	-	pfam_RILP		0.642	SCARF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RILP	HGNC	protein_coding	OTTHUMT00000207081.4	G	NM_003693		1551691	-1	no_errors	ENST00000301336	ensembl	human	known	70_37	silent	SNP	1.000	C
RRN3	54700	genome.wustl.edu	37	16	15155747	15155747	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:15155747C>A	ENST00000198767.6	-	18	1893	c.1810G>T	c.(1810-1812)Gaa>Taa	p.E604*	RRN3_ENST00000563559.1_Nonsense_Mutation_p.E604*|RRN3_ENST00000327307.7_Nonsense_Mutation_p.E571*|PDXDC1_ENST00000535621.2_Intron|RRN3_ENST00000429751.2_Nonsense_Mutation_p.E574*|RRN3_ENST00000540462.1_Nonsense_Mutation_p.E422*	NM_018427.3	NP_060897.3	Q9NYV6	RRN3_HUMAN	RRN3 RNA polymerase I transcription factor homolog (S. cerevisiae)	604	Interaction with EIF3L.|Interaction with TWISTNB.				cell proliferation (GO:0008283)|cytoplasm organization (GO:0007028)|gene expression (GO:0010467)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleolus organization (GO:0007000)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, initiation (GO:2000142)|ribosome biogenesis (GO:0042254)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(2)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)	20						TCATCATCTTCATCTTCCACT	0.443																																																	0													160.0	125.0	137.0					16																	15155747		2197	4300	6497	SO:0001587	stop_gained	54700			AF227156	CCDS10559.1, CCDS73833.1	16p13.11	2009-10-26	2006-04-04		ENSG00000085721	ENSG00000085721			30346	protein-coding gene	gene with protein product		605121	"""RRN3 RNA polymerase I transcription factor homolog (yeast)"""			10758157, 11250903	Standard	XM_005255375		Approved	DKFZp566E104	uc002dde.3	Q9NYV6	OTTHUMG00000129847	ENST00000198767.6:c.1810G>T	16.37:g.15155747C>A	ENSP00000198767:p.Glu604*		A2RTY9|B4E0J7|B4E3T2|Q3MHU9|Q6IPL4|Q9H4F0	Nonsense_Mutation	SNP	pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold	p.E604*	ENST00000198767.6	37	c.1810	CCDS10559.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.209467	0.95069	.	.	ENSG00000085721	ENST00000198767;ENST00000429751;ENST00000327307;ENST00000540462	.	.	.	6.08	6.08	0.98989	.	0.129606	0.50627	U	0.000107	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	19.6516	0.95815	0.0:1.0:0.0:0.0	.	.	.	.	X	604;574;571;422	.	ENSP00000198767:E604X	E	-	1	0	RRN3	15063248	1.000000	0.71417	1.000000	0.80357	0.358000	0.29455	6.187000	0.72039	2.894000	0.99253	0.655000	0.94253	GAA	RRN3	-	NULL		0.443	RRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRN3	HGNC	protein_coding	OTTHUMT00000252087.2	C	NM_018427		15155747	-1	no_errors	ENST00000198767	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RRP9	9136	genome.wustl.edu	37	3	51969651	51969651	+	Missense_Mutation	SNP	C	C	T	rs147742914		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:51969651C>T	ENST00000232888.6	-	9	866	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	265					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CACACCTTCACGGAGCGATCG	0.592																																																	0								C	MET/VAL	0,4406		0,0,2203	283.0	186.0	219.0		793	4.7	1.0	3	dbSNP_134	219	1,8599	1.2+/-3.3	0,1,4299	no	missense	RRP9	NM_004704.3	21	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	265/476	51969651	1,13005	2203	4300	6503	SO:0001583	missense	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.793G>A	3.37:g.51969651C>T	ENSP00000232888:p.Val265Met		B2R996|Q8IZ30	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.V265M	ENST00000232888.6	37	c.793	CCDS2837.1	3	.	.	.	.	.	.	.	.	.	.	C	16.34	3.097016	0.56075	0.0	1.16E-4	ENSG00000114767	ENST00000232888	T	0.67345	-0.26	4.67	4.67	0.58626	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.128930	0.53938	D	0.000058	D	0.83055	0.5171	M	0.84326	2.69	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.86450	0.1772	10	0.87932	D	0	-20.5506	17.2181	0.86950	0.0:1.0:0.0:0.0	.	265	O43818	U3IP2_HUMAN	M	265	ENSP00000232888:V265M	ENSP00000232888:V265M	V	-	1	0	RRP9	51944691	0.998000	0.40836	0.995000	0.50966	0.339000	0.28857	3.767000	0.55288	2.166000	0.68216	0.561000	0.74099	GTG	RRP9	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.592	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	C	NM_004704		51969651	-1	no_errors	ENST00000232888	ensembl	human	known	70_37	missense	SNP	0.999	T
RYR2	6262	genome.wustl.edu	37	1	237774171	237774171	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:237774171G>A	ENST00000366574.2	+	36	5110	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	RYR2_ENST00000360064.6_Missense_Mutation_p.R1596K|RYR2_ENST00000542537.1_Missense_Mutation_p.R1582K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1598	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTGTGGAGCAGAATGCCCAAC	0.547																																																	0													65.0	64.0	64.0					1																	237774171		1973	4149	6122	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.4793G>A	1.37:g.237774171G>A	ENSP00000355533:p.Arg1598Lys		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R1596K	ENST00000366574.2	37	c.4787	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.716725	0.96830	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.97959	-4.63;-4.61;-4.62	5.24	5.24	0.73138	.	0.000000	0.56097	D	0.000023	D	0.98482	0.9494	M	0.87682	2.9	0.80722	D	1	D	0.63880	0.993	P	0.54629	0.757	D	0.99537	1.0962	10	0.87932	D	0	.	19.0203	0.92912	0.0:0.0:1.0:0.0	.	1598	Q92736	RYR2_HUMAN	K	1598;1596;1582	ENSP00000355533:R1598K;ENSP00000353174:R1596K;ENSP00000443798:R1582K	ENSP00000353174:R1596K	R	+	2	0	RYR2	235840794	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	9.595000	0.98260	2.715000	0.92844	0.655000	0.94253	AGA	RYR2	-	NULL		0.547	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237774171	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.999	A
SERPINH1	871	genome.wustl.edu	37	11	75277832	75277832	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:75277832C>T	ENST00000524558.1	+	2	1873	c.438C>T	c.(436-438)ttC>ttT	p.F146F	SERPINH1_ENST00000533603.1_Silent_p.F146F|SERPINH1_ENST00000530284.1_Silent_p.F146F|SERPINH1_ENST00000358171.3_Silent_p.F146F|SERPINH1_ENST00000525876.1_5'Flank			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	146					chondrocyte development involved in endochondral bone morphogenesis (GO:0003433)|collagen biosynthetic process (GO:0032964)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|negative regulation of endopeptidase activity (GO:0010951)|protein maturation (GO:0051604)|regulation of proteolysis (GO:0030162)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CTGATGACTTCGTGCGCAGCA	0.622																																																	0													44.0	43.0	43.0					11																	75277832		2200	4293	6493	SO:0001819	synonymous_variant	871			X61598	CCDS8239.1	11q13.5	2014-02-18	2005-08-18		ENSG00000149257	ENSG00000149257		"""Serine (or cysteine) peptidase inhibitors"""	1546	protein-coding gene	gene with protein product		600943	"""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2"", ""serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)"""	CBP1, CBP2, SERPINH2		7656593, 9533029, 24172014	Standard	NM_001207014		Approved	HSP47, colligen	uc001owr.3	P50454	OTTHUMG00000165362	ENST00000524558.1:c.438C>T	11.37:g.75277832C>T			B3KVJ3|P29043|Q5XPB4|Q6NSJ6|Q8IY96|Q9NP88	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.F146	ENST00000524558.1	37	c.438	CCDS8239.1	11																																																																																			SERPINH1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.622	SERPINH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SERPINH1	HGNC	protein_coding	OTTHUMT00000383610.1	C	NM_004353		75277832	+1	no_errors	ENST00000358171	ensembl	human	known	70_37	silent	SNP	0.997	T
SERPINI1	5274	genome.wustl.edu	37	3	167508190	167508190	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:167508190C>G	ENST00000295777.5	+	3	712	c.281C>G	c.(280-282)tCa>tGa	p.S94*	SERPINI1_ENST00000446050.2_Nonsense_Mutation_p.S94*	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	94					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						AAGGAGTTTTCAAACATGGTA	0.363																																																	0													74.0	76.0	75.0					3																	167508190		2203	4300	6503	SO:0001587	stop_gained	5274			Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.281C>G	3.37:g.167508190C>G	ENSP00000295777:p.Ser94*		A8K217|D3DNP1|Q6AHZ4	Nonsense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.S94*	ENST00000295777.5	37	c.281	CCDS3203.1	3	.	.	.	.	.	.	.	.	.	.	C	24.2	4.506980	0.85282	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	.	.	.	5.45	5.45	0.79879	.	0.169215	0.52532	D	0.000065	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.2973	0.94128	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000295777:S94X	S	+	2	0	SERPINI1	168990884	1.000000	0.71417	0.999000	0.59377	0.094000	0.18550	4.589000	0.61006	2.552000	0.86080	0.650000	0.86243	TCA	SERPINI1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.363	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINI1	HGNC	protein_coding	OTTHUMT00000351056.1	C			167508190	+1	no_errors	ENST00000295777	ensembl	human	known	70_37	nonsense	SNP	0.995	G
SH2B1	25970	genome.wustl.edu	37	16	28884849	28884849	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:28884849C>A	ENST00000322610.8	+	11	2418	c.1979C>A	c.(1978-1980)gCg>gAg	p.A660E	SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000359285.5_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	660					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GCAGAAGAGGCGTCGAGGGCG	0.637																																																	0													42.0	65.0	58.0					16																	28884849		692	1591	2283	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.1979C>A	16.37:g.28884849C>A	ENSP00000321221:p.Ala660Glu		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.A660E	ENST00000322610.8	37	c.1979	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	17.82	3.483419	0.63962	.	.	ENSG00000178188	ENST00000322610	T	0.47869	0.83	5.02	1.8	0.24995	.	0.701264	0.12593	N	0.455411	T	0.21590	0.0520	N	0.14661	0.345	0.80722	D	1	B	0.15473	0.013	B	0.12156	0.007	T	0.19910	-1.0291	10	0.09338	T	0.73	0.0054	1.4183	0.02306	0.174:0.4656:0.1681:0.1922	.	660	Q9NRF2	SH2B1_HUMAN	E	660	ENSP00000321221:A660E	ENSP00000321221:A660E	A	+	2	0	SH2B1	28792350	0.948000	0.32251	1.000000	0.80357	0.997000	0.91878	0.083000	0.14871	1.238000	0.43771	0.591000	0.81541	GCG	SH2B1	-	NULL		0.637	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	C	NM_015503		28884849	+1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	0.994	A
SIPA1L2	57568	genome.wustl.edu	37	1	232650310	232650310	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:232650310G>A	ENST00000366630.1	-	2	1134	c.776C>T	c.(775-777)tCa>tTa	p.S259L	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.S259L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	259					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ATCTAATCCTGAGATGCGGAC	0.502																																																	0													66.0	66.0	66.0					1																	232650310		1884	4120	6004	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.776C>T	1.37:g.232650310G>A	ENSP00000355589:p.Ser259Leu		Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.S259L	ENST00000366630.1	37	c.776	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178119	0.57692	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.79454	-1.27;-1.27	5.44	5.44	0.79542	.	0.070422	0.64402	D	0.000013	T	0.73753	0.3627	L	0.46157	1.445	0.80722	D	1	P	0.48764	0.915	B	0.39465	0.3	T	0.78229	-0.2285	10	0.66056	D	0.02	-17.6922	19.4586	0.94906	0.0:0.0:1.0:0.0	.	259	Q9P2F8	SI1L2_HUMAN	L	259	ENSP00000355589:S259L;ENSP00000262861:S259L	ENSP00000262861:S259L	S	-	2	0	SIPA1L2	230716933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.298000	0.78815	2.834000	0.97654	0.650000	0.86243	TCA	SIPA1L2	-	NULL		0.502	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	G	XM_045839		232650310	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC17A8	246213	genome.wustl.edu	37	12	100787219	100787219	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:100787219C>T	ENST00000323346.5	+	4	859	c.546C>T	c.(544-546)taC>taT	p.Y182Y	SLC17A8_ENST00000392989.3_Silent_p.Y182Y	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	182					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GAGTGCATTACGGATGCGTCA	0.453																																																	0													220.0	186.0	197.0					12																	100787219		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.546C>T	12.37:g.100787219C>T			B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.Y182	ENST00000323346.5	37	c.546	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.453	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100787219	+1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	0.978	T
SLC25A21	89874	genome.wustl.edu	37	14	37283178	37283178	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr14:37283178G>A	ENST00000331299.5	-	3	663	c.148C>T	c.(148-150)Cca>Tca	p.P50S	RP11-81F13.2_ENST00000557642.1_RNA|SLC25A21_ENST00000555449.1_Missense_Mutation_p.P50S	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	50					cellular nitrogen compound metabolic process (GO:0034641)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TAACTGTTTGGATCGGTTGCA	0.313																																																	0													75.0	75.0	75.0					14																	37283178		2203	4297	6500	SO:0001583	missense	89874			AJ278148	CCDS9663.1, CCDS55913.1	14q13.3	2014-01-28	2012-03-29		ENSG00000183032	ENSG00000183032		"""Solute carriers"""	14411	protein-coding gene	gene with protein product		607571	"""solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21"""			11083877	Standard	NM_030631		Approved	ODC1, ODC	uc001wtz.2	Q9BQT8	OTTHUMG00000140250	ENST00000331299.5:c.148C>T	14.37:g.37283178G>A	ENSP00000329452:p.Pro50Ser		A8K0L0|G3V4L5|Q3MJ99	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.P50S	ENST00000331299.5	37	c.148	CCDS9663.1	14	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387226	0.42308	.	.	ENSG00000183032	ENST00000555449;ENST00000331299	T;T	0.78246	-1.16;-1.16	5.62	5.62	0.85841	Mitochondrial carrier domain (2);	0.104285	0.64402	D	0.000002	T	0.67933	0.2946	N	0.20328	0.56	0.80722	D	1	P	0.34815	0.47	B	0.39465	0.3	T	0.63479	-0.6628	10	0.14656	T	0.56	-2.2475	17.1787	0.86849	0.0:0.0:1.0:0.0	.	50	Q9BQT8	ODC_HUMAN	S	50	ENSP00000451873:P50S;ENSP00000329452:P50S	ENSP00000329452:P50S	P	-	1	0	SLC25A21	36352929	1.000000	0.71417	1.000000	0.80357	0.324000	0.28378	4.534000	0.60622	2.813000	0.96785	0.561000	0.74099	CCA	SLC25A21	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.313	SLC25A21-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC25A21	HGNC	protein_coding	OTTHUMT00000276732.2	G	NM_030631		37283178	-1	no_errors	ENST00000331299	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC4A10	57282	genome.wustl.edu	37	2	162757477	162757477	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:162757477G>C	ENST00000446997.1	+	12	1491	c.1398G>C	c.(1396-1398)gaG>gaC	p.E466D	SLC4A10_ENST00000415876.2_Missense_Mutation_p.E436D|SLC4A10_ENST00000272716.5_Missense_Mutation_p.E436D|SLC4A10_ENST00000421911.1_Missense_Mutation_p.E466D|SLC4A10_ENST00000493021.1_3'UTR|SLC4A10_ENST00000535165.1_3'UTR|SLC4A10_ENST00000375514.5_Missense_Mutation_p.E447D	NM_001178015.1	NP_001171486.1	Q6U841	S4A10_HUMAN	solute carrier family 4, sodium bicarbonate transporter, member 10	466					bicarbonate transport (GO:0015701)|chloride transport (GO:0006821)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|symporter activity (GO:0015293)			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60					Sodium bicarbonate(DB01390)	GGGAAGCAGAGCCCCACGGAG	0.438																																																	0													47.0	53.0	51.0					2																	162757477		1953	4132	6085	SO:0001583	missense	57282				CCDS46438.1, CCDS54411.1, CCDS54412.1	2q24.2	2013-05-22	2008-09-15		ENSG00000144290	ENSG00000144290		"""Solute carriers"""	13811	protein-coding gene	gene with protein product		605556	"""solute carrier family 4, sodium bicarbonate transporter-like, member 10"""			10964153, 18319254	Standard	NM_022058		Approved	NBCn2, NCBE	uc002ubx.4	Q6U841	OTTHUMG00000153938	ENST00000446997.1:c.1398G>C	2.37:g.162757477G>C	ENSP00000393066:p.Glu466Asp		B7Z1R0|B7Z2J0|B7ZLC5|B9EG69|F8W675|Q4ZFX6|Q8TCP2|Q9HCQ6	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.E466D	ENST00000446997.1	37	c.1398	CCDS54411.1	2	.	.	.	.	.	.	.	.	.	.	G	10.83	1.461009	0.26248	.	.	ENSG00000144290	ENST00000375514;ENST00000415876;ENST00000272716;ENST00000449513;ENST00000446997;ENST00000421911;ENST00000415711	T;T;T;T;T	0.80304	-1.36;-1.36;-1.35;-1.35;-1.35	5.27	2.45	0.29901	.	0.088458	0.85682	D	0.000000	T	0.78648	0.4316	M	0.66297	2.02	0.58432	D	0.99999	B;B;B;B	0.32051	0.354;0.002;0.354;0.212	B;B;B;B	0.38755	0.281;0.006;0.209;0.065	T	0.72707	-0.4212	10	0.44086	T	0.13	.	8.8788	0.35363	0.3897:0.0:0.6103:0.0	.	447;466;436;466	F8W675;E7EW28;Q6U841-2;Q6U841	.;.;.;S4A10_HUMAN	D	447;436;436;435;466;466;465	ENSP00000364664:E447D;ENSP00000395797:E436D;ENSP00000272716:E436D;ENSP00000393066:E466D;ENSP00000404486:E466D	ENSP00000272716:E436D	E	+	3	2	SLC4A10	162465723	0.997000	0.39634	0.994000	0.49952	0.986000	0.74619	0.400000	0.20932	0.299000	0.22661	0.655000	0.94253	GAG	SLC4A10	-	tigrfam_HCO3_transpt_euk		0.438	SLC4A10-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC4A10	HGNC	protein_coding	OTTHUMT00000333090.1	G	NM_022058		162757477	+1	no_errors	ENST00000446997	ensembl	human	known	70_37	missense	SNP	0.999	C
SLITRK1	114798	genome.wustl.edu	37	13	84455071	84455071	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr13:84455071G>T	ENST00000377084.2	-	1	1457	c.572C>A	c.(571-573)aCg>aAg	p.T191K		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	191					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATAGGGCAGCGTTTTCAGCCT	0.527																																																	0													86.0	84.0	84.0					13																	84455071		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.572C>A	13.37:g.84455071G>T	ENSP00000366288:p.Thr191Lys		Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.T191K	ENST00000377084.2	37	c.572	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	12.76	2.034779	0.35893	.	.	ENSG00000178235	ENST00000377084	T	0.53206	0.63	4.72	3.87	0.44632	.	0.053292	0.85682	D	0.000000	T	0.31451	0.0797	L	0.27053	0.805	0.58432	D	0.999996	P	0.38473	0.633	B	0.35278	0.199	T	0.05616	-1.0874	10	0.21540	T	0.41	-2.8918	11.7977	0.52110	0.086:0.0:0.9139:0.0	.	191	Q96PX8	SLIK1_HUMAN	K	191	ENSP00000366288:T191K	ENSP00000366288:T191K	T	-	2	0	SLITRK1	83353072	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	5.521000	0.67086	1.222000	0.43521	0.561000	0.74099	ACG	SLITRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.527	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84455071	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	T
SOCS6	9306	genome.wustl.edu	37	18	67992741	67992741	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:67992741C>T	ENST00000397942.3	+	2	1153	c.837C>T	c.(835-837)atC>atT	p.I279I	SOCS6_ENST00000582322.1_Silent_p.I279I	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	279					defense response (GO:0006952)|JAK-STAT cascade (GO:0007259)|negative regulation of signal transduction (GO:0009968)|negative regulation of T cell activation (GO:0050868)|proteasomal protein catabolic process (GO:0010498)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)	cytoplasm (GO:0005737)|immunological synapse (GO:0001772)				NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	22		Esophageal squamous(42;0.129)|Colorectal(73;0.152)				CCCCAGAGATCTTCGTGGATC	0.582																																					Melanoma(84;1024 1361 24382 36583 42651)												0													167.0	148.0	154.0					18																	67992741		2203	4300	6503	SO:0001819	synonymous_variant	9306			AB006968	CCDS11998.1	18q22	2013-02-14	2004-02-25	2004-02-27	ENSG00000170677	ENSG00000170677		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	16833	protein-coding gene	gene with protein product		605118	"""suppressor of cytokine signaling 4"""	SOCS4		9344848, 11042152	Standard	NM_004232		Approved	CIS4, SSI4, HSPC060, STATI4, STAI4, Cish4	uc002lkr.1	O14544	OTTHUMG00000132816	ENST00000397942.3:c.837C>T	18.37:g.67992741C>T			Q8WUM3	Silent	SNP	pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.I279	ENST00000397942.3	37	c.837	CCDS11998.1	18																																																																																			SOCS6	-	NULL		0.582	SOCS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS6	HGNC	protein_coding	OTTHUMT00000256270.2	C			67992741	+1	no_errors	ENST00000397942	ensembl	human	known	70_37	silent	SNP	1.000	T
SORBS1	10580	genome.wustl.edu	37	10	97135792	97135792	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:97135792C>G	ENST00000361941.3	-	17	1701	c.1675G>C	c.(1675-1677)Gag>Cag	p.E559Q	SORBS1_ENST00000371227.4_Missense_Mutation_p.E513Q|SORBS1_ENST00000371239.1_Missense_Mutation_p.E358Q|SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000353505.5_Missense_Mutation_p.E444Q|SORBS1_ENST00000371245.3_Missense_Mutation_p.E444Q|SORBS1_ENST00000393949.1_Missense_Mutation_p.E529Q|SORBS1_ENST00000277982.5_Missense_Mutation_p.E581Q|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Missense_Mutation_p.E529Q|SORBS1_ENST00000474353.2_Intron|SORBS1_ENST00000607232.1_Missense_Mutation_p.E348Q|SORBS1_ENST00000371241.1_Intron|SORBS1_ENST00000371246.2_Missense_Mutation_p.E581Q|SORBS1_ENST00000371247.2_Missense_Mutation_p.E559Q|SORBS1_ENST00000347291.4_Missense_Mutation_p.E427Q	NM_001034954.1	NP_001030126			sorbin and SH3 domain containing 1											NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AAATCTATCTCTTCTGGGCTT	0.368																																																	0													76.0	78.0	78.0					10																	97135792		2203	4300	6503	SO:0001583	missense	10580			AF136381	CCDS7442.1, CCDS31252.1, CCDS31253.1, CCDS31254.1, CCDS31255.1, CCDS31256.1, CCDS73169.1	10q23.33	2011-07-25	2002-05-08		ENSG00000095637	ENSG00000095637			14565	protein-coding gene	gene with protein product	"""c-Cbl-associated protein"""	605264	"""SH3-domain protein 5 (ponsin)"""	SH3D5		10085297, 11001060	Standard	XM_005269405		Approved	FLJ12406, CAP, sh3p12, ponsin, KIAA1296	uc001kkp.3	Q9BX66	OTTHUMG00000018812	ENST00000361941.3:c.1675G>C	10.37:g.97135792C>G	ENSP00000355136:p.Glu559Gln			Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain	p.E559Q	ENST00000361941.3	37	c.1675	CCDS31255.1	10	.	.	.	.	.	.	.	.	.	.	C	27.8	4.861497	0.91433	.	.	ENSG00000095637	ENST00000371245;ENST00000371247;ENST00000371227;ENST00000371246;ENST00000393949;ENST00000353505;ENST00000347291;ENST00000361941;ENST00000277982;ENST00000354106;ENST00000371239	T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.77	5.77	0.91146	.	0.000000	0.36740	N	0.002429	T	0.60650	0.2285	L	0.29908	0.895	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;0.992;1.0;0.995;0.997;0.999	D;D;D;D;D;D	0.85130	0.992;0.921;0.997;0.971;0.945;0.98	T	0.61073	-0.7136	10	0.56958	D	0.05	-17.2285	19.9981	0.97395	0.0:1.0:0.0:0.0	.	513;444;559;581;427;529	Q9BX66-11;Q9BX66-3;Q9BX66;Q9BX66-2;Q9BX66-6;Q9BX66-5	.;.;SRBS1_HUMAN;.;.;.	Q	444;559;513;581;529;444;427;559;581;529;358	ENSP00000360291:E444Q;ENSP00000360293:E559Q;ENSP00000360271:E513Q;ENSP00000360292:E581Q;ENSP00000377521:E529Q;ENSP00000343998:E444Q;ENSP00000277985:E427Q;ENSP00000355136:E559Q;ENSP00000277982:E581Q;ENSP00000277984:E529Q;ENSP00000360283:E358Q	ENSP00000277982:E581Q	E	-	1	0	SORBS1	97125782	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.729000	0.93468	0.655000	0.94253	GAG	SORBS1	-	NULL		0.368	SORBS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SORBS1	HGNC	protein_coding	OTTHUMT00000049517.1	C			97135792	-1	no_errors	ENST00000361941	ensembl	human	known	70_37	missense	SNP	1.000	G
SPATA31A6	389730	genome.wustl.edu	37	9	43625223	43625223	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:43625223G>A	ENST00000332857.6	-	4	3492	c.3464C>T	c.(3463-3465)tCa>tTa	p.S1155L	SPATA31A6_ENST00000496386.1_5'Flank	NM_001145196.1	NP_001138668.1	Q5VVP1	S31A6_HUMAN	SPATA31 subfamily A, member 6	1155					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTGGCTTACTGAAGGAGGCTG	0.443																																																	0													176.0	178.0	178.0					9																	43625223		644	1569	2213	SO:0001583	missense	389730				CCDS75837.1	9p11.2	2012-10-15	2012-10-12	2012-10-12	ENSG00000185775	ENSG00000185775			32006	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member A6"""	FAM75A6		20850414	Standard	NM_001145196		Approved	OTTHUMG00000013224	uc011lrb.2	Q5VVP1	OTTHUMG00000013224	ENST00000332857.6:c.3464C>T	9.37:g.43625223G>A	ENSP00000329825:p.Ser1155Leu			Missense_Mutation	SNP	NULL	p.S1155L	ENST00000332857.6	37	c.3464	CCDS47973.1	9	.	.	.	.	.	.	.	.	.	.	G	7.179	0.589134	0.13812	.	.	ENSG00000185775	ENST00000332857	T	0.04119	3.7	2.42	-0.733	0.11144	.	1.733100	0.03558	N	0.226540	T	0.05181	0.0138	L	0.39020	1.185	0.09310	N	1	B	0.19706	0.038	B	0.28553	0.091	T	0.43734	-0.9373	10	0.42905	T	0.14	0.5959	2.3283	0.04228	0.2974:0.0:0.4632:0.2393	.	1155	Q5VVP1	F75A6_HUMAN	L	1155	ENSP00000329825:S1155L	ENSP00000329825:S1155L	S	-	2	0	FAM75A6	43565219	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.209000	0.09358	-0.149000	0.11215	0.368000	0.22195	TCA	SPATA31A6	-	NULL		0.443	SPATA31A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31A6	HGNC	protein_coding	OTTHUMT00000036987.1	G	NM_001145196		43625223	-1	no_errors	ENST00000332857	ensembl	human	known	70_37	missense	SNP	0.000	A
SPATA31D1	389763	genome.wustl.edu	37	9	84607959	84607959	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:84607959G>T	ENST00000344803.2	+	4	2621	c.2574G>T	c.(2572-2574)aaG>aaT	p.K858N		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	858					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											ACTCAGTCAAGCAGACAATGT	0.443																																																	0													89.0	80.0	83.0					9																	84607959		1897	4128	6025	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.2574G>T	9.37:g.84607959G>T	ENSP00000341988:p.Lys858Asn			Missense_Mutation	SNP	NULL	p.K858N	ENST00000344803.2	37	c.2574	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	10.39	1.338007	0.24253	.	.	ENSG00000214929	ENST00000344803	T	0.47528	0.84	2.7	-1.79	0.07932	.	1.867510	0.02420	N	0.082493	T	0.31040	0.0784	L	0.31157	0.91	0.09310	N	1	B	0.22276	0.067	B	0.27262	0.078	T	0.04090	-1.0978	10	0.15952	T	0.53	0.0	0.3805	0.00394	0.2672:0.2002:0.3291:0.2036	.	858	Q6ZQQ2	F75D1_HUMAN	N	858	ENSP00000341988:K858N	ENSP00000341988:K858N	K	+	3	2	FAM75D1	83797779	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.813000	0.04491	-0.403000	0.07622	0.558000	0.71614	AAG	SPATA31D1	-	NULL		0.443	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84607959	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.000	T
SPTA1	6708	genome.wustl.edu	37	1	158639538	158639538	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:158639538G>A	ENST00000368147.4	-	13	1818	c.1638C>T	c.(1636-1638)gaC>gaT	p.D546D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	546					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AATCATAATGGTCATCACCAA	0.408																																																	0													232.0	214.0	220.0					1																	158639538		1903	4116	6019	SO:0001819	synonymous_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1638C>T	1.37:g.158639538G>A			Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.D546	ENST00000368147.4	37	c.1638	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.408	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	G	NM_003126		158639538	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	silent	SNP	0.002	A
STAB2	55576	genome.wustl.edu	37	12	104092950	104092950	+	Missense_Mutation	SNP	G	G	A	rs151309446	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr12:104092950G>A	ENST00000388887.2	+	34	3863	c.3659G>A	c.(3658-3660)cGt>cAt	p.R1220H		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GGCATGCATCGTGAGACCATG	0.478													.|||	2	0.000399361	0.0008	0.0	5008	,	,		21527	0.0		0.0	False		,,,				2504	0.001																0								G	HIS/ARG	0,4406		0,0,2203	195.0	158.0	171.0		3659	5.3	1.0	12	dbSNP_134	171	1,8599	1.2+/-3.3	0,1,4299	no	missense	STAB2	NM_017564.9	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	1220/2552	104092950	1,13005	2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.3659G>A	12.37:g.104092950G>A	ENSP00000373539:p.Arg1220His			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.R1220H	ENST00000388887.2	37	c.3659	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	18.06	3.540096	0.65085	0.0	1.16E-4	ENSG00000136011	ENST00000388887	D	0.90324	-2.65	5.35	5.35	0.76521	FAS1 domain (5);Growth factor, receptor (1);	0.062767	0.64402	D	0.000010	D	0.94896	0.8350	M	0.68952	2.095	0.38711	D	0.953226	D	0.89917	1.0	D	0.91635	0.999	D	0.95620	0.8680	10	0.62326	D	0.03	.	19.0708	0.93136	0.0:0.0:1.0:0.0	.	1220	Q8WWQ8	STAB2_HUMAN	H	1220	ENSP00000373539:R1220H	ENSP00000373539:R1220H	R	+	2	0	STAB2	102617080	1.000000	0.71417	0.998000	0.56505	0.314000	0.28054	5.620000	0.67736	2.517000	0.84864	0.561000	0.74099	CGT	STAB2	-	pfam_FAS1_domain,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_FAS1_domain,pfscan_FAS1_domain		0.478	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	G			104092950	+1	no_errors	ENST00000388887	ensembl	human	known	70_37	missense	SNP	1.000	A
STX11	8676	genome.wustl.edu	37	6	144508376	144508376	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:144508376C>T	ENST00000367568.4	+	2	795	c.612C>T	c.(610-612)ctC>ctT	p.L204L		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	204	t-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00202}.		L -> H (in dbSNP:rs1133248).	ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031). {ECO:0000305}.	cytotoxic T cell degranulation (GO:0043316)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|natural killer cell degranulation (GO:0043320)|neutrophil degranulation (GO:0043312)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	SNAP receptor activity (GO:0005484)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GGGCCGCCCTCAACGAGATCG	0.637									Familial Hemophagocytic Lymphohistiocytosis																																								0													36.0	42.0	40.0					6																	144508376		2203	4300	6503	SO:0001819	synonymous_variant	8676	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AF044309	CCDS5205.1	6q24.1	2014-09-17			ENSG00000135604	ENSG00000135604			11429	protein-coding gene	gene with protein product		605014				9553086	Standard	NM_003764		Approved		uc003qks.4	O75558	OTTHUMG00000015739	ENST00000367568.4:c.612C>T	6.37:g.144508376C>T			E1P598|O75378|O95148|Q5TCL6	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.L204	ENST00000367568.4	37	c.612	CCDS5205.1	6																																																																																			STX11	-	superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom		0.637	STX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX11	HGNC	protein_coding	OTTHUMT00000042544.1	C			144508376	+1	no_errors	ENST00000367568	ensembl	human	known	70_37	silent	SNP	1.000	T
SUFU	51684	genome.wustl.edu	37	10	104375151	104375151	+	Silent	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:104375151C>G	ENST00000369902.3	+	9	1315	c.1149C>G	c.(1147-1149)ctC>ctG	p.L383L	SUFU_ENST00000423559.2_Silent_p.L383L|SUFU_ENST00000369899.2_Silent_p.L383L	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	383					cytoplasmic sequestering of transcription factor (GO:0042994)|heart looping (GO:0001947)|multicellular organismal development (GO:0007275)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|negative regulation of transcription factor import into nucleus (GO:0042992)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|skin development (GO:0043588)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|primary cilium (GO:0072372)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		TCATTCCTCTCTGCCTAAGGT	0.612			"""D, F, S"""		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation																														yes	Rec	yes	Medulloblastoma predisposition	10	10q24.32	51684	suppressor of fused homolog (Drosophila)		O	0													93.0	83.0	86.0					10																	104375151		2203	4300	6503	SO:0001819	synonymous_variant	51684	Familial Cancer Database		AF175770	CCDS7537.1, CCDS53571.1	10q24.32	2014-09-17			ENSG00000107882	ENSG00000107882			16466	protein-coding gene	gene with protein product		607035				15367681	Standard	NM_016169		Approved	SUFUH, SUFUXL, PRO1280	uc001kvy.2	Q9UMX1	OTTHUMG00000018966	ENST00000369902.3:c.1149C>G	10.37:g.104375151C>G			Q7LCP7|Q9NT90|Q9NZ07|Q9UHK2|Q9UHM8|Q9UMY0	Silent	SNP	pfam_SUFU_C,pfam_SUFU_domain,pirsf_Suppressor_of_fused_protein	p.L383	ENST00000369902.3	37	c.1149	CCDS7537.1	10																																																																																			SUFU	-	pfam_SUFU_C,pirsf_Suppressor_of_fused_protein		0.612	SUFU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUFU	HGNC	protein_coding	OTTHUMT00000050089.1	C	NM_016169		104375151	+1	no_errors	ENST00000369902	ensembl	human	known	70_37	silent	SNP	0.999	G
SUMF1	285362	genome.wustl.edu	37	3	4458918	4458918	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr3:4458918G>C	ENST00000272902.5	-	6	769	c.734C>G	c.(733-735)cCc>cGc	p.P245R	SUMF1_ENST00000383843.5_Missense_Mutation_p.P220R|SUMF1_ENST00000458465.2_Intron|SUMF1_ENST00000405420.2_Missense_Mutation_p.P245R|SUMF1_ENST00000534863.1_Missense_Mutation_p.P245R	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	245					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)	metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		GTTGCCCCAGGGGAAAAGTCT	0.498																																																	0													99.0	91.0	94.0					3																	4458918		2203	4300	6503	SO:0001583	missense	285362			BC017005	CCDS2564.1, CCDS54548.1, CCDS54549.1	3p26.1	2009-07-23			ENSG00000144455	ENSG00000144455			20376	protein-coding gene	gene with protein product		607939				12757705, 12757706	Standard	NM_182760		Approved	FGE, UNQ3037	uc003bpz.2	Q8NBK3	OTTHUMG00000090269	ENST00000272902.5:c.734C>G	3.37:g.4458918G>C	ENSP00000272902:p.Pro245Arg		B4DXK5|B7XD05|E9PGL0|G5E9B0|Q0VAC6|Q0VAC7|Q2NL78|Q53ZE4|Q6UY39|Q96AK5|Q96DK8	Missense_Mutation	SNP	pfam_FGE_dom,superfamily_C-type_lectin_fold	p.P245R	ENST00000272902.5	37	c.734	CCDS2564.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.266372	0.95399	.	.	ENSG00000144455	ENST00000534982;ENST00000534863;ENST00000272902;ENST00000383843;ENST00000405420	D;D;D;D	0.98120	-4.73;-4.73;-4.73;-4.73	5.81	5.81	0.92471	C-type lectin fold (1);Formylglycine-generating sulphatase enzyme domain (2);	0.091794	0.85682	D	0.000000	D	0.99111	0.9694	M	0.93150	3.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99379	1.0922	10	0.72032	D	0.01	-16.319	18.854	0.92244	0.0:0.0:1.0:0.0	.	220;245;245	G5E9B0;E9PGL0;Q8NBK3	.;.;SUMF1_HUMAN	R	245;245;245;220;245	ENSP00000440421:P245R;ENSP00000272902:P245R;ENSP00000373355:P220R;ENSP00000384977:P245R	ENSP00000272902:P245R	P	-	2	0	SUMF1	4433918	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.739000	0.91574	2.746000	0.94184	0.655000	0.94253	CCC	SUMF1	-	pfam_FGE_dom,superfamily_C-type_lectin_fold		0.498	SUMF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUMF1	HGNC	protein_coding	OTTHUMT00000206591.2	G	NM_182760		4458918	-1	no_errors	ENST00000448413	ensembl	human	known	70_37	missense	SNP	1.000	C
SYK	6850	genome.wustl.edu	37	9	93636954	93636954	+	Splice_Site	SNP	G	G	A	rs139388374	byFrequency	TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:93636954G>A	ENST00000375754.4	+	9	1152	c.1004G>A	c.(1003-1005)gGc>gAc	p.G335D	SYK_ENST00000375751.4_Splice_Site_p.G312D|SYK_ENST00000375747.1_Splice_Site_p.G312D|SYK_ENST00000375746.1_Splice_Site_p.G335D	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	335	Interdomain B.				activation of JUN kinase activity (GO:0007257)|adaptive immune response (GO:0002250)|angiogenesis (GO:0001525)|B cell receptor signaling pathway (GO:0050853)|beta selection (GO:0043366)|blood coagulation (GO:0007596)|blood vessel morphogenesis (GO:0048514)|cell proliferation (GO:0008283)|cellular response to molecule of fungal origin (GO:0071226)|defense response to bacterium (GO:0042742)|enzyme linked receptor protein signaling pathway (GO:0007167)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte activation involved in immune response (GO:0002366)|leukocyte cell-cell adhesion (GO:0007159)|leukotriene biosynthetic process (GO:0019370)|lymph vessel development (GO:0001945)|macrophage activation involved in immune response (GO:0002281)|neutrophil activation involved in immune response (GO:0002283)|neutrophil chemotaxis (GO:0030593)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of bone resorption (GO:0045780)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of granulocyte macrophage colony-stimulating factor biosynthetic process (GO:0045425)|positive regulation of interleukin-3 biosynthetic process (GO:0045401)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of arachidonic acid secretion (GO:0090237)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of neutrophil degranulation (GO:0043313)|regulation of phagocytosis (GO:0050764)|regulation of platelet activation (GO:0010543)|regulation of platelet aggregation (GO:0090330)|regulation of superoxide anion generation (GO:0032928)|serotonin secretion by platelet (GO:0002554)|viral process (GO:0016032)	B cell receptor complex (GO:0019815)|cytosol (GO:0005829)|early phagosome (GO:0032009)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	ATP binding (GO:0005524)|integrin binding (GO:0005178)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						TGCATTGCAGGCCCCCAGAGA	0.552			T	"""ETV6, ITK"""	"""MDS, peripheral T-cell lymphoma"""																																			Dom	yes		9	9q22	6850	spleen tyrosine kinase		L	0								G	ASP/GLY,ASP/GLY,ASP/GLY,ASP/GLY	3,4403	4.2+/-10.8	0,3,2200	135.0	147.0	143.0		935,1004,935,1004	3.3	0.7	9	dbSNP_134	143	0,8600		0,0,4300	no	missense-near-splice,missense-near-splice,missense-near-splice,missense-near-splice	SYK	NM_001135052.2,NM_001174167.1,NM_001174168.1,NM_003177.5	94,94,94,94	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	benign,benign,benign,benign	312/613,335/636,312/613,335/636	93636954	3,13003	2203	4300	6503	SO:0001630	splice_region_variant	6850			L28824	CCDS6688.1, CCDS47992.1	9q22	2013-02-14			ENSG00000165025	ENSG00000165025		"""SH2 domain containing"""	11491	protein-coding gene	gene with protein product		600085				8082894, 1423621	Standard	XM_005252147		Approved		uc004aqz.3	P43405	OTTHUMG00000020200	ENST00000375754.4:c.1004-1G>A	9.37:g.93636954G>A				Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2	p.G335D	ENST00000375754.4	37	c.1004	CCDS6688.1	9	.	.	.	.	.	.	.	.	.	.	G	3.435	-0.115284	0.06881	6.81E-4	0.0	ENSG00000165025	ENST00000375754;ENST00000375751;ENST00000375747;ENST00000375746	T;T;T;T	0.72942	-0.7;-0.68;-0.68;-0.7	4.25	3.27	0.37495	.	0.799195	0.11338	N	0.574327	T	0.50684	0.1630	N	0.17082	0.46	0.37068	D	0.898384	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.44050	-0.9353	9	.	.	.	.	6.979	0.24692	0.2658:0.0:0.7342:0.0	.	312;335	P43405-2;P43405	.;KSYK_HUMAN	D	335;312;312;335	ENSP00000364907:G335D;ENSP00000364904:G312D;ENSP00000364899:G312D;ENSP00000364898:G335D	.	G	+	2	0	SYK	92676775	0.941000	0.31946	0.729000	0.30791	0.467000	0.32768	1.571000	0.36450	0.936000	0.37367	0.561000	0.74099	GGC	SYK	-	pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70		0.552	SYK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYK	HGNC	protein_coding	OTTHUMT00000053018.1	G		Missense_Mutation	93636954	+1	no_errors	ENST00000375746	ensembl	human	known	70_37	missense	SNP	0.947	A
TAF6	6878	genome.wustl.edu	37	7	99709583	99709583	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:99709583G>C	ENST00000344095.4	-	8	1285	c.760C>G	c.(760-762)Cag>Gag	p.Q254E	TAF6_ENST00000497233.1_5'Flank|TAF6_ENST00000452041.1_Missense_Mutation_p.Q254E|TAF6_ENST00000418432.2_Missense_Mutation_p.Q178E|TAF6_ENST00000437822.2_Missense_Mutation_p.Q291E|TAF6_ENST00000472509.1_Missense_Mutation_p.Q311E|TAF6_ENST00000453269.2_Missense_Mutation_p.Q254E	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	254					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGCATCTGATACAGTCCA	0.602																																																	0													81.0	68.0	73.0					7																	99709583		2203	4300	6503	SO:0001583	missense	6878				CCDS5686.1, CCDS55135.1	7q	2010-02-26	2002-08-29	2001-12-07	ENSG00000106290	ENSG00000106290			11540	protein-coding gene	gene with protein product	"""TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80 kD"", ""transcription initiation factor TFIID 70 kD subunit"""	602955	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, E, 70/85kD"""	TAF2E		826207	Standard	NM_139315		Approved	TAFII70, TAFII80, MGC:8964, TAFII85	uc011kji.2	P49848	OTTHUMG00000154771	ENST00000344095.4:c.760C>G	7.37:g.99709583G>C	ENSP00000344537:p.Gln254Glu		A4D2B2|A4D2B3|B4DT11|D6W5U2|Q6AI29	Missense_Mutation	SNP	pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd	p.Q254E	ENST00000344095.4	37	c.760	CCDS5686.1	7	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922539	0.33908	.	.	ENSG00000106290	ENST00000453269;ENST00000472509;ENST00000452041;ENST00000344095;ENST00000418432;ENST00000437822;ENST00000493322	T;T;T;T;T;T;T	0.67171	-0.25;-0.25;-0.25;-0.25;-0.25;-0.25;0.63	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.63105	0.2483	M	0.63169	1.94	0.58432	D	0.999999	P;P;P;B;P;P	0.40144	0.512;0.644;0.512;0.131;0.704;0.512	B;B;B;B;B;B	0.37943	0.113;0.227;0.113;0.085;0.261;0.113	T	0.60885	-0.7174	10	0.12103	T	0.63	-20.6091	17.2336	0.86991	0.0:0.0:1.0:0.0	.	291;254;244;254;254;178	B4DT11;P49848-2;A4D299;P49848;C9JTY6;B3KUR4	.;.;.;TAF6_HUMAN;.;.	E	254;311;254;254;178;291;254	ENSP00000389575:Q254E;ENSP00000419760:Q311E;ENSP00000416396:Q254E;ENSP00000344537:Q254E;ENSP00000407980:Q178E;ENSP00000399982:Q291E;ENSP00000419555:Q254E	ENSP00000344537:Q254E	Q	-	1	0	TAF6	99547519	1.000000	0.71417	0.998000	0.56505	0.664000	0.39144	9.027000	0.93706	2.665000	0.90641	0.561000	0.74099	CAG	TAF6	-	superfamily_ARM-type_fold		0.602	TAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6	HGNC	protein_coding	OTTHUMT00000337024.2	G	NM_005641		99709583	-1	no_errors	ENST00000344095	ensembl	human	known	70_37	missense	SNP	1.000	C
TCF20	6942	genome.wustl.edu	37	22	42608264	42608264	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr22:42608264C>G	ENST00000359486.3	-	1	3184	c.3048G>C	c.(3046-3048)ttG>ttC	p.L1016F	TCF20_ENST00000335626.4_Missense_Mutation_p.L1016F|TCF20_ENST00000404876.1_5'Flank	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1016					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GAGACATTTTCAATTTTTCTG	0.557																																																	0													43.0	48.0	46.0					22																	42608264		2203	4300	6503	SO:0001583	missense	6942			U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.3048G>C	22.37:g.42608264C>G	ENSP00000352463:p.Leu1016Phe		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	Missense_Mutation	SNP	smart_Znf_PHD	p.L1016F	ENST00000359486.3	37	c.3048	CCDS14033.1	22	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505242	0.44558	.	.	ENSG00000100207	ENST00000359486;ENST00000335626	T;T	0.67865	-0.29;-0.29	5.92	3.85	0.44370	.	0.355112	0.23614	N	0.046307	T	0.67192	0.2867	N	0.19112	0.55	0.80722	D	1	D;D	0.71674	0.998;0.997	D;P	0.64237	0.923;0.84	T	0.69018	-0.5256	10	0.56958	D	0.05	-7.2586	12.6396	0.56702	0.0:0.8665:0.0:0.1335	.	1016;1016	Q9UGU0-2;Q9UGU0	.;TCF20_HUMAN	F	1016	ENSP00000352463:L1016F;ENSP00000335561:L1016F	ENSP00000335561:L1016F	L	-	3	2	TCF20	40938208	1.000000	0.71417	0.948000	0.38648	0.718000	0.41266	2.094000	0.41719	0.848000	0.35191	0.655000	0.94253	TTG	TCF20	-	NULL		0.557	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF20	HGNC	protein_coding	OTTHUMT00000320531.1	C	NM_181492		42608264	-1	no_errors	ENST00000359486	ensembl	human	known	70_37	missense	SNP	1.000	G
TDRD5	163589	genome.wustl.edu	37	1	179561978	179561978	+	Silent	SNP	G	G	A	rs144528038		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:179561978G>A	ENST00000367614.1	+	2	587	c.228G>A	c.(226-228)ctG>ctA	p.L76L	RP11-545A16.4_ENST00000567150.1_RNA|TDRD5_ENST00000294848.8_Silent_p.L76L|TDRD5_ENST00000444136.1_Silent_p.L76L	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	76	HTH OST-type 1. {ECO:0000255|PROSITE- ProRule:PRU00975}.				DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						CTGTAATACTGAAAGGTAGGT	0.403																																																	0								G	,,,	0,4406		0,0,2203	102.0	92.0	95.0		228,228,228,228	0.3	1.0	1	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TDRD5	NM_001199085.1,NM_001199089.1,NM_001199091.1,NM_173533.3	,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,	76/1036,76/1036,76/982,76/982	179561978	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.228G>A	1.37:g.179561978G>A			A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Silent	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.L76	ENST00000367614.1	37	c.228	CCDS1332.1	1																																																																																			TDRD5	-	NULL		0.403	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	G	NM_173533		179561978	+1	no_errors	ENST00000444136	ensembl	human	known	70_37	silent	SNP	0.634	A
TEAD1	7003	genome.wustl.edu	37	11	12886424	12886424	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:12886424C>T	ENST00000527575.1	+	4	420	c.307C>T	c.(307-309)Cgt>Tgt	p.R103C	TEAD1_ENST00000361985.2_Missense_Mutation_p.R103C|TEAD1_ENST00000527636.1_Missense_Mutation_p.R103C|TEAD1_ENST00000334310.6_Missense_Mutation_p.R88C|TEAD1_ENST00000361905.4_Missense_Mutation_p.R88C			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	103					gene expression (GO:0010467)|hippo signaling (GO:0035329)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AAGGAAATCTCGTGATTTTCA	0.458																																																	0													286.0	244.0	258.0					11																	12886424		2200	4294	6494	SO:0001583	missense	7003			X84839	CCDS7810.1, CCDS7810.2	11p15.4	2008-11-12				ENSG00000187079			11714	protein-coding gene	gene with protein product		189967	"""atrophia areata, peripapillary chorioretinal degeneration"""	TCF13, AA		1851669, 9889009, 15016762	Standard	NM_021961		Approved	TEF-1	uc021qdx.1	P28347		ENST00000527575.1:c.307C>T	11.37:g.12886424C>T	ENSP00000435977:p.Arg103Cys		A4FUP2|E7EV65	Missense_Mutation	SNP	pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,prints_TEA/ATTS,pfscan_TEA/ATTS	p.R88C	ENST00000527575.1	37	c.262		11	.	.	.	.	.	.	.	.	.	.	C	21.9	4.215096	0.79352	.	.	ENSG00000187079	ENST00000361905;ENST00000527636;ENST00000527575;ENST00000334310;ENST00000361985	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.74412	0.3713	M	0.93507	3.425	0.80722	D	1	D	0.89917	1.0	D	0.67725	0.953	T	0.80551	-0.1332	10	0.87932	D	0	-3.7182	19.9446	0.97177	0.0:1.0:0.0:0.0	.	103	P28347	TEAD1_HUMAN	C	88;103;103;88;103	ENSP00000355332:R88C;ENSP00000435233:R103C;ENSP00000435977:R103C;ENSP00000334754:R88C;ENSP00000354588:R103C	ENSP00000334754:R88C	R	+	1	0	TEAD1	12843000	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.814000	0.96858	0.591000	0.81541	CGT	TEAD1	-	pfam_TEA/ATTS,pirsf_TEF		0.458	TEAD1-002	NOVEL	basic	protein_coding	TEAD1	HGNC	protein_coding	OTTHUMT00000386888.1	C	NM_021961		12886424	+1	no_errors	ENST00000361905	ensembl	human	known	70_37	missense	SNP	1.000	T
TEX15	56154	genome.wustl.edu	37	8	30695564	30695564	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr8:30695564G>C	ENST00000256246.2	-	3	7161	c.7087C>G	c.(7087-7089)Cat>Gat	p.H2363D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2363					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTGGGATGAGATCCTGTA	0.299																																																	0													89.0	88.0	88.0					8																	30695564		2203	4300	6503	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.7087C>G	8.37:g.30695564G>C	ENSP00000256246:p.His2363Asp			Missense_Mutation	SNP	NULL	p.H2363D	ENST00000256246.2	37	c.7087	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	G	10.96	1.499143	0.26861	.	.	ENSG00000133863	ENST00000256246	T	0.10860	2.83	4.81	2.86	0.33363	.	0.149718	0.31415	N	0.007692	T	0.17023	0.0409	L	0.51422	1.61	0.09310	N	0.999997	D	0.62365	0.991	P	0.57101	0.813	T	0.03068	-1.1076	10	0.87932	D	0	.	5.3513	0.16038	0.1024:0.0:0.6986:0.1991	.	2363	Q9BXT5	TEX15_HUMAN	D	2363	ENSP00000256246:H2363D	ENSP00000256246:H2363D	H	-	1	0	TEX15	30815106	1.000000	0.71417	0.497000	0.27552	0.324000	0.28378	1.995000	0.40767	1.350000	0.45770	0.462000	0.41574	CAT	TEX15	-	NULL		0.299	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	G			30695564	-1	no_errors	ENST00000256246	ensembl	human	known	70_37	missense	SNP	0.303	C
THRAP3	9967	genome.wustl.edu	37	1	36754981	36754981	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:36754981C>T	ENST00000354618.5	+	5	1585	c.1361C>T	c.(1360-1362)tCt>tTt	p.S454F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S454F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	454	Required for mRNA decay activity.				androgen receptor signaling pathway (GO:0030521)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|mRNA processing (GO:0006397)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|phosphoprotein binding (GO:0051219)|poly(A) RNA binding (GO:0044822)|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)	p.S454F(1)		breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAATTTATGTCTAAAGTCATA	0.438			T	USP6	aneurysmal bone cysts																																Pancreas(129;785 1795 20938 23278 32581)			Dom	yes		1	1p34.3	9967	thyroid hormone receptor associated protein 3 (TRAP150)		M	1	Substitution - Missense(1)	lung(1)											72.0	74.0	73.0					1																	36754981		2203	4300	6503	SO:0001583	missense	9967			AF117756	CCDS405.1	1p34.3	2008-02-05			ENSG00000054118	ENSG00000054118			22964	protein-coding gene	gene with protein product		603809					Standard	NM_005119		Approved	TRAP150	uc001cae.4	Q9Y2W1	OTTHUMG00000007866	ENST00000354618.5:c.1361C>T	1.37:g.36754981C>T	ENSP00000346634:p.Ser454Phe		D3DPS5|Q5VTK6	Missense_Mutation	SNP	NULL	p.S454F	ENST00000354618.5	37	c.1361	CCDS405.1	1	.	.	.	.	.	.	.	.	.	.	C	19.94	3.919849	0.73098	.	.	ENSG00000054118	ENST00000354618;ENST00000469141	T;T	0.15834	2.39;2.39	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000008	T	0.38692	0.1050	L	0.59436	1.845	0.48830	D	0.99971	D	0.71674	0.998	D	0.65443	0.935	T	0.03773	-1.1005	10	0.87932	D	0	-2.3265	17.2906	0.87154	0.0:1.0:0.0:0.0	.	454	Q9Y2W1	TR150_HUMAN	F	454	ENSP00000346634:S454F;ENSP00000433825:S454F	ENSP00000346634:S454F	S	+	2	0	THRAP3	36527568	0.998000	0.40836	0.986000	0.45419	0.991000	0.79684	3.996000	0.57009	2.765000	0.95021	0.655000	0.94253	TCT	THRAP3	-	NULL		0.438	THRAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THRAP3	HGNC	protein_coding	OTTHUMT00000021688.2	C	NM_005119		36754981	+1	no_errors	ENST00000354618	ensembl	human	known	70_37	missense	SNP	0.999	T
TM2D3	80213	genome.wustl.edu	37	15	102187096	102187096	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:102187096C>G	ENST00000333202.3	-	4	339	c.334G>C	c.(334-336)Gac>Cac	p.D112H	TM2D3_ENST00000347970.3_Missense_Mutation_p.D86H|TM2D3_ENST00000559107.1_Missense_Mutation_p.D112H|TM2D3_ENST00000428002.2_Missense_Mutation_p.D86H|RNU6-807P_ENST00000516805.1_RNA|TM2D3_ENST00000561373.1_Missense_Mutation_p.D47H	NM_078474.2	NP_510883.2	Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	112						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GATTTGAAGTCTTGATCCTAT	0.403																																																	0													123.0	105.0	111.0					15																	102187096		2203	4300	6503	SO:0001583	missense	80213			AK094955	CCDS10392.1, CCDS10393.1	15q26.3	2014-02-12			ENSG00000184277	ENSG00000184277			24128	protein-coding gene	gene with protein product		610014				11278849	Standard	XM_005254980		Approved	BLP2, FLJ22604	uc002bxi.3	Q9BRN9	OTTHUMG00000149872	ENST00000333202.3:c.334G>C	15.37:g.102187096C>G	ENSP00000330433:p.Asp112His		B2RDK9|Q9H046|Q9H651	Missense_Mutation	SNP	pfam_TM2	p.D112H	ENST00000333202.3	37	c.334	CCDS10393.1	15	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800133	0.70567	.	.	ENSG00000184277	ENST00000428002;ENST00000347970;ENST00000333202	T;T;T	0.74632	-0.86;-0.86;-0.86	5.72	4.62	0.57501	.	0.358932	0.32459	N	0.006073	T	0.77343	0.4116	L	0.51422	1.61	0.37479	D	0.915914	D;D;B;P	0.65815	0.995;0.966;0.399;0.833	P;P;B;B	0.58873	0.847;0.735;0.424;0.372	T	0.79593	-0.1739	10	0.54805	T	0.06	-30.44	8.7326	0.34507	0.0:0.8252:0.0:0.1748	.	112;86;86;112	B4DKG4;E7EPS7;Q9BRN9-2;Q9BRN9	.;.;.;TM2D3_HUMAN	H	86;86;112	ENSP00000402179:D86H;ENSP00000327584:D86H;ENSP00000330433:D112H	ENSP00000330433:D112H	D	-	1	0	TM2D3	100004619	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	2.185000	0.42584	2.704000	0.92352	0.585000	0.79938	GAC	TM2D3	-	NULL		0.403	TM2D3-002	KNOWN	basic|CCDS	protein_coding	TM2D3	HGNC	protein_coding	OTTHUMT00000313623.1	C	NM_078474		102187096	-1	no_errors	ENST00000333202	ensembl	human	known	70_37	missense	SNP	0.951	G
TMEM168	64418	genome.wustl.edu	37	7	112424409	112424409	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:112424409C>T	ENST00000312814.6	-	2	1032	c.472G>A	c.(472-474)Gaa>Aaa	p.E158K	TMEM168_ENST00000454074.1_Missense_Mutation_p.E158K	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168	158						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						TCCAGAAATTCAACTGTGGTT	0.428																																																	0													71.0	70.0	70.0					7																	112424409		2203	4300	6503	SO:0001583	missense	64418				CCDS5757.1	7q31.32	2006-08-08			ENSG00000146802	ENSG00000146802			25826	protein-coding gene	gene with protein product						12477932	Standard	XM_005250527		Approved	DKFZp564C012,FLJ13576	uc003vgn.3	Q9H0V1	OTTHUMG00000155188	ENST00000312814.6:c.472G>A	7.37:g.112424409C>T	ENSP00000323068:p.Glu158Lys		A4D0T9|B4DDS0|Q8NEK4|Q9H8J2	Missense_Mutation	SNP	superfamily_ConA-like_lec_gl_sf	p.E158K	ENST00000312814.6	37	c.472	CCDS5757.1	7	.	.	.	.	.	.	.	.	.	.	C	31	5.066265	0.93898	.	.	ENSG00000146802	ENST00000312814;ENST00000454074	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.79233	0.4411	L	0.61218	1.895	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	T	0.78851	-0.2041	9	0.87932	D	0	-15.4916	20.6397	0.99537	0.0:1.0:0.0:0.0	.	158	Q9H0V1	TM168_HUMAN	K	158	.	ENSP00000323068:E158K	E	-	1	0	TMEM168	112211645	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.818000	0.86416	2.880000	0.98712	0.650000	0.86243	GAA	TMEM168	-	NULL		0.428	TMEM168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM168	HGNC	protein_coding	OTTHUMT00000338696.4	C	NM_022484		112424409	-1	no_errors	ENST00000312814	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM200C	645369	genome.wustl.edu	37	18	5891558	5891558	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:5891558C>T	ENST00000581347.2	-	3	1150	c.505G>A	c.(505-507)Ggg>Agg	p.G169R	RP11-945C19.4_ENST00000582939.1_RNA|RP11-945C19.4_ENST00000580845.1_RNA|RP11-945C19.4_ENST00000577694.1_RNA|TMEM200C_ENST00000383490.2_Missense_Mutation_p.G169R			A6NKL6	T200C_HUMAN	transmembrane protein 200C	169						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)	12						ATGAGGGGCCCGAAGACCTTG	0.592																																																	0													52.0	62.0	59.0					18																	5891558		2137	4248	6385	SO:0001583	missense	645369				CCDS45825.1	18p11.31	2009-09-08			ENSG00000206432	ENSG00000206432			37208	protein-coding gene	gene with protein product						15722956	Standard	NM_001080209		Approved	TTMA	uc002kmx.1	A6NKL6		ENST00000581347.2:c.505G>A	18.37:g.5891558C>T	ENSP00000463375:p.Gly169Arg			Missense_Mutation	SNP	pfam_DUF2371_TMEM200	p.G169R	ENST00000581347.2	37	c.505	CCDS45825.1	18	.	.	.	.	.	.	.	.	.	.	C	25.2	4.613182	0.87359	.	.	ENSG00000206432	ENST00000383490	.	.	.	4.2	4.2	0.49525	.	0.000000	0.85682	D	0.000000	T	0.79581	0.4470	M	0.77486	2.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83604	0.0130	9	0.87932	D	0	-18.4894	16.9016	0.86115	0.0:1.0:0.0:0.0	.	169	A6NKL6	T200C_HUMAN	R	169	.	ENSP00000372982:G169R	G	-	1	0	TMEM200C	5881558	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.685000	0.84117	2.028000	0.59812	0.305000	0.20034	GGG	TMEM200C	-	pfam_DUF2371_TMEM200		0.592	TMEM200C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM200C	HGNC	protein_coding	OTTHUMT00000441917.4	C	NM_001080209		5891558	-1	no_errors	ENST00000383490	ensembl	human	known	70_37	missense	SNP	1.000	T
TNC	3371	genome.wustl.edu	37	9	117810761	117810761	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:117810761C>T	ENST00000350763.4	-	16	5041	c.4630G>A	c.(4630-4632)Ggg>Agg	p.G1544R	TNC_ENST00000535648.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000341037.4_Intron|TNC_ENST00000340094.3_Missense_Mutation_p.G1180R	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1544	Fibronectin type-III 11. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						ACTGTGAACCCGTAGGGATTA	0.502																																																	0													57.0	60.0	59.0					9																	117810761		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4630G>A	9.37:g.117810761C>T	ENSP00000265131:p.Gly1544Arg		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	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_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.G1544R	ENST00000350763.4	37	c.4630	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364959	0.82463	.	.	ENSG00000041982	ENST00000340094;ENST00000350763	T;T	0.56444	0.46;0.46	5.73	5.73	0.89815	Fibronectin, type III (4);	0.000000	0.64402	D	0.000004	T	0.64811	0.2632	L	0.49126	1.545	0.80722	D	1	D	0.61697	0.99	P	0.58172	0.834	T	0.66135	-0.5999	10	0.72032	D	0.01	.	18.0735	0.89419	0.0:1.0:0.0:0.0	.	1544	P24821	TENA_HUMAN	R	1180;1544	ENSP00000344400:G1180R;ENSP00000265131:G1544R	ENSP00000344400:G1180R	G	-	1	0	TNC	116850582	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.114000	0.77103	2.693000	0.91896	0.655000	0.94253	GGG	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.502	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117810761	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	1.000	T
TNC	3371	genome.wustl.edu	37	9	117838840	117838840	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr9:117838840T>C	ENST00000350763.4	-	8	3100	c.2689A>G	c.(2689-2691)Agg>Ggg	p.R897G	TNC_ENST00000535648.1_Missense_Mutation_p.R897G|TNC_ENST00000346706.3_Missense_Mutation_p.R897G|TNC_ENST00000542877.1_Missense_Mutation_p.R897G|TNC_ENST00000537320.1_Missense_Mutation_p.R897G|TNC_ENST00000423613.2_Missense_Mutation_p.R897G|TNC_ENST00000345230.3_Missense_Mutation_p.R897G|TNC_ENST00000341037.4_Missense_Mutation_p.R897G|TNC_ENST00000340094.3_Missense_Mutation_p.R897G	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	897	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CGAAGATTCCTGGGAGCATCG	0.458																																																	0													257.0	236.0	243.0					9																	117838840		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.2689A>G	9.37:g.117838840T>C	ENSP00000265131:p.Arg897Gly		C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	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_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.R897G	ENST00000350763.4	37	c.2689	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	T	19.37	3.815488	0.70912	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.57436	0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4;0.4	5.82	1.68	0.24146	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.228496	0.43260	D	0.000584	T	0.50000	0.1590	L	0.41906	1.305	0.34156	D	0.6681	P;B	0.41947	0.766;0.27	P;B	0.48873	0.593;0.314	T	0.55958	-0.8058	10	0.13108	T	0.6	.	15.6513	0.77095	0.0:0.0:0.4205:0.5795	.	897;897	E9PC84;P24821	.;TENA_HUMAN	G	897	ENSP00000344400:R897G;ENSP00000438152:R897G;ENSP00000344555:R897G;ENSP00000345861:R897G;ENSP00000265131:R897G;ENSP00000339553:R897G;ENSP00000411406:R897G;ENSP00000443478:R897G;ENSP00000442242:R897G	ENSP00000344400:R897G	R	-	1	2	TNC	116878661	0.045000	0.20229	0.999000	0.59377	0.996000	0.88848	1.562000	0.36353	0.410000	0.25675	0.528000	0.53228	AGG	TNC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.458	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	T	NM_002160		117838840	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.982	C
TRAF6	7189	genome.wustl.edu	37	11	36511976	36511977	+	Frame_Shift_Ins	INS	-	-	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:36511976_36511977insA	ENST00000526995.1	-	7	1226_1227	c.980_981insT	c.(979-981)gtafs	p.V327fs	TRAF6_ENST00000529150.1_5'UTR|TRAF6_ENST00000348124.5_Frame_Shift_Ins_p.V327fs	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	327	Interaction with TAX1BP1.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of protein kinase activity (GO:0032147)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|apoptotic signaling pathway (GO:0097190)|bone resorption (GO:0045453)|cell development (GO:0048468)|cellular response to lipopolysaccharide (GO:0071222)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoclast differentiation (GO:0030316)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|protein autoubiquitination (GO:0051865)|protein complex assembly (GO:0006461)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|regulation of immunoglobulin secretion (GO:0051023)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|T-helper 1 type immune response (GO:0042088)|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)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|lipid particle (GO:0005811)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	histone deacetylase binding (GO:0042826)|ligase activity (GO:0016874)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				TGAGCTCACTTACATACATACT	0.421																																																	0																																										SO:0001589	frameshift_variant	7189				CCDS7901.1	11p12	2013-01-09	2012-02-23		ENSG00000175104	ENSG00000175104		"""RING-type (C3HC4) zinc fingers"""	12036	protein-coding gene	gene with protein product		602355	"""TNF receptor-associated factor 6"""			8837778	Standard	NM_004620		Approved	RNF85	uc001mws.2	Q9Y4K3	OTTHUMG00000166391	ENST00000526995.1:c.981dupT	11.37:g.36511977_36511977dupA	ENSP00000433623:p.Val327fs		A6NKI7|A8KAB3|D3DR16|Q8NEH5	Frame_Shift_Ins	INS	pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.S328fs	ENST00000526995.1	37	c.981_980	CCDS7901.1	11																																																																																			TRAF6	-	pirsf_TNF_rcpt--assoc_TRAF		0.421	TRAF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF6	HGNC	protein_coding	OTTHUMT00000389530.1	-	NM_145803		36511977	-1	no_errors	ENST00000348124	ensembl	human	known	70_37	frame_shift_ins	INS	0.444:0.899	A
TRIM56	81844	genome.wustl.edu	37	7	100730990	100730990	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:100730990G>T	ENST00000306085.6	+	3	694	c.397G>T	c.(397-399)Gac>Tac	p.D133Y		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	133					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|interferon-beta production (GO:0032608)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of type I interferon production (GO:0032481)|protein K63-linked ubiquitination (GO:0070534)|regulation of type I interferon production (GO:0032479)|response to type I interferon (GO:0034340)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GGCCTGTGCCGACGGGCACCG	0.726																																					Ovarian(89;1092 1379 22756 38989 39611)												0													10.0	13.0	12.0					7																	100730990		1994	4111	6105	SO:0001583	missense	81844			BK000511	CCDS43625.1	7q11.2	2013-01-09	2011-01-25		ENSG00000169871	ENSG00000169871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19028	protein-coding gene	gene with protein product			"""tripartite motif-containing 56"""				Standard	NM_030961		Approved	RNF109	uc003uxq.3	Q9BRZ2	OTTHUMG00000157032	ENST00000306085.6:c.397G>T	7.37:g.100730990G>T	ENSP00000305161:p.Asp133Tyr		Q6PJS5|Q86VT6|Q8N2H8|Q8NAC0|Q9H031	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.D133Y	ENST00000306085.6	37	c.397	CCDS43625.1	7	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776723	0.49786	.	.	ENSG00000169871	ENST00000306085;ENST00000412507	T;T	0.42513	0.97;1.3	3.9	3.9	0.45041	.	0.000000	0.46758	D	0.000270	T	0.47985	0.1475	N	0.25890	0.77	0.27414	N	0.954472	D;D	0.76494	0.996;0.999	D;D	0.74674	0.921;0.984	T	0.31943	-0.9925	10	0.54805	T	0.06	.	11.673	0.51413	0.0:0.0:1.0:0.0	.	133;133	C9JI91;Q9BRZ2	.;TRI56_HUMAN	Y	133	ENSP00000305161:D133Y;ENSP00000404186:D133Y	ENSP00000305161:D133Y	D	+	1	0	TRIM56	100517710	0.001000	0.12720	0.718000	0.30602	0.957000	0.61999	0.491000	0.22419	2.444000	0.82710	0.655000	0.94253	GAC	TRIM56	-	NULL		0.726	TRIM56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM56	HGNC	protein_coding	OTTHUMT00000347185.1	G	NM_030961		100730990	+1	no_errors	ENST00000306085	ensembl	human	known	70_37	missense	SNP	0.821	T
TRIML1	339976	genome.wustl.edu	37	4	189061706	189061706	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:189061706C>G	ENST00000332517.3	+	2	573	c.433C>G	c.(433-435)Ctt>Gtt	p.L145V	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	145					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AATCCTGAATCTTTTGCGTGT	0.478																																					Melanoma(31;213 1036 16579 23968 32372)												0													151.0	143.0	146.0					4																	189061706		2203	4300	6503	SO:0001583	missense	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.433C>G	4.37:g.189061706C>G	ENSP00000327738:p.Leu145Val		Q96BE5	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L145V	ENST00000332517.3	37	c.433	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	C	0	-2.847323	0.00067	.	.	ENSG00000184108	ENST00000332517	T	0.61980	0.06	4.74	-1.41	0.08941	.	1.522490	0.03999	N	0.296240	T	0.49779	0.1577	L	0.37561	1.115	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.22417	-1.0217	10	0.17369	T	0.5	-1.3635	8.2063	0.31456	0.6079:0.3061:0.0:0.086	.	145	Q8N9V2	TRIML_HUMAN	V	145	ENSP00000327738:L145V	ENSP00000327738:L145V	L	+	1	0	TRIML1	189298700	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.117000	0.10708	-0.279000	0.09167	-0.745000	0.03516	CTT	TRIML1	-	NULL		0.478	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	C	NM_178556		189061706	+1	no_errors	ENST00000332517	ensembl	human	known	70_37	missense	SNP	0.000	G
TRIML1	339976	genome.wustl.edu	37	4	189068346	189068346	+	Silent	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:189068346C>T	ENST00000332517.3	+	6	1367	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	409	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AGGTTGGTGTCTTCCTGGACT	0.488																																					Melanoma(31;213 1036 16579 23968 32372)												0													155.0	139.0	144.0					4																	189068346		2203	4300	6503	SO:0001819	synonymous_variant	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.1227C>T	4.37:g.189068346C>T			Q96BE5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.V409	ENST00000332517.3	37	c.1227	CCDS3851.1	4																																																																																			TRIML1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.488	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	C	NM_178556		189068346	+1	no_errors	ENST00000332517	ensembl	human	known	70_37	silent	SNP	0.436	T
TTC27	55622	genome.wustl.edu	37	2	32889467	32889467	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:32889467G>A	ENST00000317907.4	+	6	969	c.738G>A	c.(736-738)gaG>gaA	p.E246E		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	246										breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ATTATTATGAGTACAGAAAAG	0.313																																																	0													104.0	106.0	105.0					2																	32889467		2202	4297	6499	SO:0001819	synonymous_variant	55622			BC063791, AK000279	CCDS33176.1	2p22.3	2013-01-10			ENSG00000018699	ENSG00000018699		"""Tetratricopeptide (TTC) repeat domain containing"""	25986	protein-coding gene	gene with protein product							Standard	NM_001193509		Approved	FLJ20272	uc002rom.3	Q6P3X3	OTTHUMG00000152134	ENST00000317907.4:c.738G>A	2.37:g.32889467G>A			A6NKJ0|Q96SS5|Q9BVF1|Q9NWR4|Q9NXG4	Silent	SNP	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E246	ENST00000317907.4	37	c.738	CCDS33176.1	2																																																																																			TTC27	-	NULL		0.313	TTC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC27	HGNC	protein_coding	OTTHUMT00000325395.1	G	NM_017735		32889467	+1	no_errors	ENST00000317907	ensembl	human	known	70_37	silent	SNP	0.998	A
TTN	7273	genome.wustl.edu	37	2	179433734	179433734	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179433734C>T	ENST00000591111.1	-	276	72426	c.72202G>A	c.(72202-72204)Gat>Aat	p.D24068N	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D16644N|TTN_ENST00000342992.6_Missense_Mutation_p.D23141N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D25709N|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D16769N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D16836N			Q8WZ42	TITIN_HUMAN	titin	24068	Fibronectin type-III 75. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGTGACATCATCCACAGTT	0.438																																																	0													198.0	186.0	190.0					2																	179433734		1996	4184	6180	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.72202G>A	2.37:g.179433734C>T	ENSP00000465570:p.Asp24068Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D23141N	ENST00000591111.1	37	c.69421		2	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858359	0.51376	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.83	5.83	0.93111	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.72518	0.3470	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.73266	-0.4037	9	0.87932	D	0	.	20.111	0.97911	0.0:1.0:0.0:0.0	.	16644;16769;16836;24068	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	N	23141;16644;16836;16769;16642	ENSP00000343764:D23141N;ENSP00000434586:D16644N;ENSP00000340554:D16836N;ENSP00000352154:D16769N	ENSP00000340554:D16836N	D	-	1	0	TTN	179141980	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.747000	0.94245	0.650000	0.86243	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.438	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179433734	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179528038	179528038	+	Intron	SNP	A	A	C	rs139508281		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179528038A>C	ENST00000591111.1	-	154	34489				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.L12219V|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTCAGGCAACTTCTTTTCT	0.373																																																	0													87.0	98.0	95.0					2																	179528038		852	1975	2827	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.34265-4517T>G	2.37:g.179528038A>C			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,superfamily_ARM-type_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.L12219V	ENST00000591111.1	37	c.36655		2	.	.	.	.	.	.	.	.	.	.	C	2.839	-0.240854	0.05944	.	.	ENSG00000155657	ENST00000541862;ENST00000392423	.	.	.	4.22	-4.3	0.03710	.	.	.	.	.	T	0.12987	0.0315	.	.	.	0.80722	P	0.0	B	0.02656	0.0	B	0.04013	0.001	T	0.35276	-0.9795	6	0.07325	T	0.83	.	4.7944	0.13265	0.3266:0.2877:0.0:0.3857	.	493	Q71S18	.	V	493;345	.	ENSP00000376219:L345V	L	-	1	2	TTN	179236283	0.000000	0.05858	0.000000	0.03702	0.084000	0.17831	-7.146000	0.00043	-1.491000	0.01840	-3.546000	0.00031	TTG	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.373	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	A	NM_133378		179528038	-1	no_errors	ENST00000589042	ensembl	human	putative	70_37	missense	SNP	0.000	C
TTN	7273	genome.wustl.edu	37	2	179585223	179585223	+	Missense_Mutation	SNP	C	C	T	rs534249494		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179585223C>T	ENST00000591111.1	-	78	22539	c.22315G>A	c.(22315-22317)Gat>Aat	p.D7439N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6512N|TTN_ENST00000589042.1_Missense_Mutation_p.D7756N|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin	12998	Ig-like 56.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTTGTATCAAAATGTTTT	0.393																																																	0													102.0	93.0	96.0					2																	179585223		1828	4077	5905	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22315G>A	2.37:g.179585223C>T	ENSP00000465570:p.Asp7439Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D6512N	ENST00000591111.1	37	c.19534		2	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014155	0.35511	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.76	5.76	0.90799	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.45276	0.1334	N	0.10945	0.07	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.45190	-0.9278	9	0.87932	D	0	.	6.7369	0.23415	0.0:0.7107:0.1774:0.1119	.	7439	Q8WZ42	TITIN_HUMAN	N	6512	ENSP00000343764:D6512N	ENSP00000343764:D6512N	D	-	1	0	TTN	179293468	0.039000	0.19947	1.000000	0.80357	0.987000	0.75469	0.285000	0.18883	2.711000	0.92665	0.650000	0.86243	GAT	TTN	-	pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179585223	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179616503	179616503	+	Intron	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179616503G>A	ENST00000591111.1	-	45	10585				TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R3542W|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342175.6_Intron			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R3542W(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGATGGGCCGATTGTTATGA	0.393																																																	1	Substitution - Missense(1)	large_intestine(1)											80.0	81.0	81.0					2																	179616503		2203	4300	6503	SO:0001627	intron_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10360+1347C>T	2.37:g.179616503G>A			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R3542W	ENST00000591111.1	37	c.10624		2	.	.	.	.	.	.	.	.	.	.	G	13.88	2.369432	0.42003	.	.	ENSG00000155657	ENST00000360870	T	0.68181	-0.31	5.86	1.35	0.21983	.	.	.	.	.	T	0.77525	0.4143	M	0.64260	1.97	0.80722	D	1	D	0.76494	0.999	D	0.66196	0.942	T	0.78723	-0.2093	9	0.66056	D	0.02	.	16.1147	0.81301	0.0:0.0:0.3089:0.6911	.	3542	Q8WZ42-6	.	W	3542	ENSP00000354117:R3542W	ENSP00000354117:R3542W	R	-	1	2	TTN	179324748	0.998000	0.40836	0.084000	0.20598	0.588000	0.36517	2.618000	0.46393	0.006000	0.14734	-0.182000	0.12963	CGG	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179616503	-1	no_errors	ENST00000360870	ensembl	human	known	70_37	missense	SNP	0.969	A
TTN	7273	genome.wustl.edu	37	2	179641067	179641067	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr2:179641067C>T	ENST00000591111.1	-	28	5748	c.5524G>A	c.(5524-5526)Gac>Aac	p.D1842N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D1796N|TTN_ENST00000342992.6_Missense_Mutation_p.D1842N|TTN-AS1_ENST00000584485.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D1842N|TTN_ENST00000359218.5_Missense_Mutation_p.D1796N|TTN_ENST00000360870.5_Missense_Mutation_p.D1842N|TTN_ENST00000342175.6_Missense_Mutation_p.D1796N			Q8WZ42	TITIN_HUMAN	titin	12670	Ig-like 9.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGACAATGTCTGGCTTTTGC	0.473																																																	0													173.0	174.0	174.0					2																	179641067		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.5524G>A	2.37:g.179641067C>T	ENSP00000465570:p.Asp1842Asn		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D1842N	ENST00000591111.1	37	c.5524		2	.	.	.	.	.	.	.	.	.	.	c	13.97	2.396199	0.42512	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.16	5.16	0.70880	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.70254	0.3203	N	0.22421	0.69	0.40472	D	0.980351	P;P;P;P;D	0.67145	0.939;0.939;0.939;0.939;0.996	P;P;P;P;P	0.59948	0.739;0.739;0.739;0.795;0.866	T	0.75929	-0.3144	9	0.87932	D	0	.	18.6477	0.91416	0.0:1.0:0.0:0.0	.	1796;1796;1796;1842;1842	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	N	1842;1796;1796;1796;1796;1842	ENSP00000343764:D1842N;ENSP00000434586:D1796N;ENSP00000340554:D1796N;ENSP00000352154:D1796N;ENSP00000354117:D1842N	ENSP00000340554:D1796N	D	-	1	0	TTN	179349312	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.417000	0.82017	0.651000	0.88453	GAC	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like		0.473	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179641067	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TUB	7275	genome.wustl.edu	37	11	8120384	8120384	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr11:8120384A>T	ENST00000299506.2	+	9	1227	c.1078A>T	c.(1078-1080)Agt>Tgt	p.S360C	TUB_ENST00000305253.4_Missense_Mutation_p.S415C|TUB_ENST00000534099.1_Missense_Mutation_p.S366C	NM_177972.2	NP_813977.1	P50607	TUB_HUMAN	tubby bipartite transcription factor	360					multicellular organismal macromolecule metabolic process (GO:0044259)|phagocytosis (GO:0006909)|phototransduction (GO:0007602)|positive regulation of phagocytosis (GO:0050766)|response to hormone (GO:0009725)|retina development in camera-type eye (GO:0060041)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled photoreceptor activity (GO:0008020)|protein complex binding (GO:0032403)			breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CACTTTGGAAAGTGGAACCTT	0.488											OREG0020732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													138.0	127.0	131.0					11																	8120384		2201	4296	6497	SO:0001583	missense	7275			U54644	CCDS7786.1, CCDS7787.1	11p15.5	2013-08-06	2013-08-06		ENSG00000166402	ENSG00000166402			12406	protein-coding gene	gene with protein product		601197	"""tubby (mouse) homolog"", ""tubby homolog (mouse)"""			8612280	Standard	NM_003320		Approved	rd5	uc001mfy.3	P50607	OTTHUMG00000165690	ENST00000299506.2:c.1078A>T	11.37:g.8120384A>T	ENSP00000299506:p.Ser360Cys	646	D3DQU4|O00293|Q6B007	Missense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C	p.S415C	ENST00000299506.2	37	c.1243	CCDS7787.1	11	.	.	.	.	.	.	.	.	.	.	A	14.89	2.671034	0.47781	.	.	ENSG00000166402	ENST00000534099;ENST00000305253;ENST00000299506	D;D;D	0.96459	-4.02;-4.02;-4.02	5.27	2.91	0.33838	Tubby, C-terminal (3);	0.178859	0.64402	D	0.000014	D	0.90769	0.7102	L	0.28192	0.835	0.42558	D	0.993138	B;B;B	0.09022	0.001;0.001;0.002	B;B;B	0.08055	0.003;0.0;0.003	D	0.85460	0.1166	10	0.48119	T	0.1	-5.4599	6.1853	0.20493	0.6348:0.0:0.3652:0.0	.	366;360;415	E9PQR4;P50607;P50607-2	.;TUB_HUMAN;.	C	366;415;360	ENSP00000434400:S366C;ENSP00000305426:S415C;ENSP00000299506:S360C	ENSP00000299506:S360C	S	+	1	0	TUB	8076960	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.767000	0.62286	0.939000	0.37446	0.454000	0.30748	AGT	TUB	-	pfam_Tubby_C,superfamily_Tubby_C-like		0.488	TUB-003	PUTATIVE	basic|appris_principal|CCDS	protein_coding	TUB	HGNC	protein_coding	OTTHUMT00000385823.1	A	NM_003320		8120384	+1	no_errors	ENST00000305253	ensembl	human	known	70_37	missense	SNP	1.000	T
TUBB	203068	genome.wustl.edu	37	6	30691826	30691826	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:30691826G>A	ENST00000327892.8	+	4	1293	c.987G>A	c.(985-987)caG>caA	p.Q329Q	TUBB_ENST00000435534.1_Silent_p.Q128Q|TUBB_ENST00000330914.3_Silent_p.Q257Q|TUBB_ENST00000396389.1_Silent_p.Q311Q|TUBB_ENST00000396384.1_Silent_p.Q257Q|XXbac-BPG252P9.9_ENST00000607476.1_RNA	NM_178014.2	NP_821133.1	P07437	TBB5_HUMAN	tubulin, beta class I	329					cell division (GO:0051301)|cellular component movement (GO:0006928)|cellular process (GO:0009987)|cytoskeleton-dependent intracellular transport (GO:0030705)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|natural killer cell mediated cytotoxicity (GO:0042267)|protein polymerization (GO:0051258)|spindle assembly (GO:0051225)	cell body (GO:0044297)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|MHC class I protein binding (GO:0042288)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Podofilox(DB01179)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCGATGAGCAGATGCTTAACG	0.557																																																	0													101.0	91.0	94.0					6																	30691826		2203	4300	6503	SO:0001819	synonymous_variant	203068			AB062393	CCDS4687.1	6p21.33	2011-10-10	2011-10-10		ENSG00000196230	ENSG00000196230		"""Tubulins"""	20778	protein-coding gene	gene with protein product	"""class I beta-tubulin"", ""beta1-tubulin"""	191130	"""tubulin, beta polypeptide"", ""tubulin, beta"""			11504633, 8270253	Standard	NM_001293212		Approved	OK/SW-cl.56, MGC16435, M40, Tubb5	uc003nrl.3	P07437	OTTHUMG00000031059	ENST00000327892.8:c.987G>A	6.37:g.30691826G>A			P05218|Q8WUC1|Q9CY33	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_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.Q329	ENST00000327892.8	37	c.987	CCDS4687.1	6																																																																																			TUBB	-	pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Alpha_tubulin		0.557	TUBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB	HGNC	protein_coding	OTTHUMT00000076074.2	G	NM_178014		30691826	+1	no_errors	ENST00000327892	ensembl	human	known	70_37	silent	SNP	1.000	A
UACA	55075	genome.wustl.edu	37	15	70959889	70959889	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr15:70959889C>G	ENST00000322954.6	-	16	3319	c.3134G>C	c.(3133-3135)aGa>aCa	p.R1045T	UACA_ENST00000379983.2_Missense_Mutation_p.R1032T|UACA_ENST00000560441.1_Missense_Mutation_p.R1030T|UACA_ENST00000539319.1_Missense_Mutation_p.R936T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1045					intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of protein import into nucleus (GO:0042307)|response to UV (GO:0009411)	apoptosome (GO:0043293)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTCTTATCTCTCAAATCTTT	0.348																																																	0													105.0	97.0	100.0					15																	70959889		2198	4298	6496	SO:0001583	missense	55075			AF322916	CCDS10235.1, CCDS32280.1	15q22-q24	2013-01-10			ENSG00000137831	ENSG00000137831		"""Ankyrin repeat domain containing"""	15947	protein-coding gene	gene with protein product		612516				11162650, 10997877	Standard	NM_001008224		Approved	FLJ10128, KIAA1561	uc002asr.3	Q9BZF9	OTTHUMG00000133363	ENST00000322954.6:c.3134G>C	15.37:g.70959889C>G	ENSP00000314556:p.Arg1045Thr		G3XAG2|Q14DD3|Q8N3B8|Q96NH6|Q9HCL1|Q9NWC6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt	p.R1045T	ENST00000322954.6	37	c.3134	CCDS10235.1	15	.	.	.	.	.	.	.	.	.	.	C	9.444	1.088816	0.20390	.	.	ENSG00000137831	ENST00000322954;ENST00000379983;ENST00000539319	T;T;T	0.33865	1.39;1.4;1.88	5.82	-0.27	0.12926	.	0.867685	0.10175	N	0.706654	T	0.19765	0.0475	N	0.08118	0	0.09310	N	1	B;B;B;B	0.28636	0.218;0.06;0.102;0.163	B;B;B;B	0.29440	0.102;0.047;0.047;0.066	T	0.22626	-1.0211	10	0.46703	T	0.11	-3.5219	10.7832	0.46390	0.0:0.4135:0.0:0.5865	.	936;1045;1045;1032	F5H2B9;B7ZKM6;Q9BZF9;G3XAG2	.;.;UACA_HUMAN;.	T	1045;1032;936	ENSP00000314556:R1045T;ENSP00000369319:R1032T;ENSP00000438667:R936T	ENSP00000314556:R1045T	R	-	2	0	UACA	68746943	0.019000	0.18553	0.002000	0.10522	0.782000	0.44232	2.094000	0.41719	-0.291000	0.09012	-0.367000	0.07326	AGA	UACA	-	NULL		0.348	UACA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UACA	HGNC	protein_coding	OTTHUMT00000257199.2	C			70959889	-1	no_errors	ENST00000322954	ensembl	human	known	70_37	missense	SNP	0.000	G
UNCX	340260	genome.wustl.edu	37	7	1273287	1273287	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr7:1273287G>C	ENST00000316333.8	+	2	517	c.406G>C	c.(406-408)Gag>Cag	p.E136Q		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	136					cartilage condensation (GO:0001502)|common myeloid progenitor cell proliferation (GO:0035726)|dorsal spinal cord development (GO:0021516)|olfactory bulb interneuron differentiation (GO:0021889)|pattern specification process (GO:0007389)|regulation of cell differentiation (GO:0045595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GTTCATGCGCGAGGCGCTGGC	0.677																																																	0													48.0	51.0	50.0					7																	1273287		2203	4299	6502	SO:0001583	missense	340260				CCDS34583.1	7p22.3	2011-06-20			ENSG00000164853	ENSG00000164853		"""Homeoboxes / PRD class"""	33194	protein-coding gene	gene with protein product							Standard	NM_001080461		Approved	Uncx4.1	uc011jvw.2	A6NJT0	OTTHUMG00000152022	ENST00000316333.8:c.406G>C	7.37:g.1273287G>C	ENSP00000314480:p.Glu136Gln		A4D221	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E136Q	ENST00000316333.8	37	c.406	CCDS34583.1	7	.	.	.	.	.	.	.	.	.	.	G	17.62	3.434892	0.62955	.	.	ENSG00000164853	ENST00000316333	D	0.96427	-4.01	4.0	4.0	0.46444	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.301457	0.28914	U	0.013723	D	0.98009	0.9344	M	0.82433	2.59	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.99075	1.0835	10	0.87932	D	0	-28.0093	15.5305	0.75956	0.0:0.0:1.0:0.0	.	136	A6NJT0	UNC4_HUMAN	Q	136	ENSP00000314480:E136Q	ENSP00000314480:E136Q	E	+	1	0	UNCX	1239813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.472000	0.97709	1.989000	0.58080	0.485000	0.47835	GAG	UNCX	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.677	UNCX-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	UNCX	HGNC	protein_coding	OTTHUMT00000324910.2	G	NM_001080461		1273287	+1	no_errors	ENST00000316333	ensembl	human	known	70_37	missense	SNP	1.000	C
USP48	84196	genome.wustl.edu	37	1	22032632	22032632	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr1:22032632G>A	ENST00000308271.9	-	18	2908	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	USP48_ENST00000374732.3_Missense_Mutation_p.R292W|USP48_ENST00000400301.1_Missense_Mutation_p.R754W|USP48_ENST00000529637.1_Missense_Mutation_p.R766W	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	754	DUSP 3. {ECO:0000255|PROSITE- ProRule:PRU00613}.				ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ubiquitin-specific protease activity (GO:0004843)			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		ACAAATTTCCGCCACTCTTCT	0.358																																																	0													88.0	87.0	87.0					1																	22032632		2203	4300	6503	SO:0001583	missense	84196			AF502942	CCDS30623.1, CCDS44084.1	1p36.12	2008-02-05	2005-08-08	2004-04-07	ENSG00000090686	ENSG00000090686		"""Ubiquitin-specific peptidases"""	18533	protein-coding gene	gene with protein product			"""ubiquitin specific protease 31"", ""ubiquitin specific protease 48"""	USP31		12838346	Standard	XM_005246009		Approved	FLJ23277, FLJ11328, FLJ20103, FLJ23054, MGC14879	uc001bfb.3	Q86UV5	OTTHUMG00000007798	ENST00000308271.9:c.2260C>T	1.37:g.22032632G>A	ENSP00000309262:p.Arg754Trp		B7ZKS7|Q2M3I4|Q5SZI4|Q5T3T5|Q6NX53|Q8N3F6|Q96F64|Q96IQ3|Q9H5N3|Q9H5T7|Q9NUJ6|Q9NXR0	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup	p.R754W	ENST00000308271.9	37	c.2260	CCDS30623.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.076979	0.76415	.	.	ENSG00000090686	ENST00000400301;ENST00000308271;ENST00000374732;ENST00000529637	T;T;T	0.08984	3.08;3.03;3.11	5.94	1.23	0.21249	Peptidase C19, ubiquitin-specific peptidase, DUSP domain (1);	0.089231	0.85682	D	0.000000	T	0.25644	0.0624	M	0.71581	2.175	0.50171	D	0.999854	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;1.0	D;P;D;P;D	0.72338	0.92;0.855;0.95;0.857;0.977	T	0.14035	-1.0487	10	0.87932	D	0	.	14.8846	0.70557	0.0:0.0:0.3446:0.6554	.	766;754;754;754;292	B7ZKS7;B7ZKS3;Q86UV5-2;Q86UV5;Q86UV5-5	.;.;.;UBP48_HUMAN;.	W	754;754;292;766	ENSP00000383157:R754W;ENSP00000309262:R754W;ENSP00000431949:R766W	ENSP00000309262:R754W	R	-	1	2	USP48	21905219	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.495000	0.45337	0.689000	0.31550	0.557000	0.71058	CGG	USP48	-	NULL		0.358	USP48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP48	HGNC	protein_coding	OTTHUMT00000021372.1	G	NM_032236		22032632	-1	no_errors	ENST00000308271	ensembl	human	known	70_37	missense	SNP	1.000	A
UTP14A	10813	genome.wustl.edu	37	X	129041400	129041400	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:129041400G>A	ENST00000394422.3	+	2	112	c.84G>A	c.(82-84)ttG>ttA	p.L28L	UTP14A_ENST00000371051.5_5'UTR|UTP14A_ENST00000425117.2_Silent_p.L28L|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	28					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						actacctcttgagtgagagtg	0.438																																																	0													101.0	84.0	90.0					X																	129041400		2203	4300	6503	SO:0001819	synonymous_variant	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.84G>A	X.37:g.129041400G>A			A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Silent	SNP	pfam_SSU_processome_Utp14	p.L28	ENST00000394422.3	37	c.84	CCDS14615.1	X																																																																																			UTP14A	-	NULL		0.438	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129041400	+1	no_errors	ENST00000394422	ensembl	human	known	70_37	silent	SNP	0.001	A
VASN	114990	genome.wustl.edu	37	16	4432189	4432189	+	Silent	SNP	G	G	A	rs369159357		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:4432189G>A	ENST00000304735.3	+	2	1466	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000539968.1_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	437	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular response to hypoxia (GO:0071456)|cellular response to redox state (GO:0071461)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)	cell surface (GO:0009986)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	transforming growth factor beta binding (GO:0050431)			breast(1)|lung(3)|prostate(1)|skin(1)	6						AAGGCTTCACGGGCCTGTACT	0.697																																																	0								G	,,,,	1,4335		0,1,2167	19.0	17.0	17.0		,,,,1311	-11.0	0.0	16		17	0,8558		0,0,4279	no	intron,intron,intron,intron,coding-synonymous	CORO7,VASN,CORO7-PAM16	NM_001201472.1,NM_001201473.1,NM_001201479.1,NM_024535.4,NM_138440.2	,,,,	0,1,6446	AA,AG,GG		0.0,0.0231,0.0078	,,,,	,,,,437/674	4432189	1,12893	2168	4279	6447	SO:0001819	synonymous_variant	114990			AY358299	CCDS10514.1	16p13.3	2008-02-05	2006-03-30	2006-03-30	ENSG00000168140	ENSG00000168140			18517	protein-coding gene	gene with protein product		608843	"""slit-like 2 (Drosophila)"""	SLITL2		15247411	Standard	NM_138440		Approved		uc002cwj.1	Q6EMK4	OTTHUMG00000129469	ENST00000304735.3:c.1311G>A	16.37:g.4432189G>A			Q6UXL4|Q6UXL5|Q96CX1	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.T437	ENST00000304735.3	37	c.1311	CCDS10514.1	16																																																																																			VASN	-	smart_EG-like_dom,pfscan_EG-like_dom		0.697	VASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VASN	HGNC	protein_coding	OTTHUMT00000251632.1	G	NM_138440		4432189	+1	no_errors	ENST00000304735	ensembl	human	known	70_37	silent	SNP	0.000	A
VDAC1	7416	genome.wustl.edu	37	5	133316707	133316708	+	Intron	INS	-	-	T	rs76032174|rs76341281		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr5:133316707_133316708insT	ENST00000265333.3	-	6	568				VDAC1_ENST00000395044.3_Intron|VDAC1_ENST00000395047.2_Intron	NM_003374.2	NP_003365.1	P21796	VDAC1_HUMAN	voltage-dependent anion channel 1						anion transport (GO:0006820)|apoptotic process (GO:0006915)|behavioral fear response (GO:0001662)|epithelial cell differentiation (GO:0030855)|learning (GO:0007612)|neuron-neuron synaptic transmission (GO:0007270)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pore complex (GO:0046930)	porin activity (GO:0015288)|protein kinase binding (GO:0019901)|voltage-gated anion channel activity (GO:0008308)			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	TGCAAGTTGTCTTTTTTTTTTT	0.416																																					NSCLC(127;1776 1806 35523 41489 48154)												0																																										SO:0001627	intron_variant	7416				CCDS4168.1	5q31	2011-11-15			ENSG00000213585	ENSG00000213585		"""Voltage-dependent anion channels"""	12669	protein-coding gene	gene with protein product		604492				7517385	Standard	NM_003374		Approved	MGC111064, PORIN	uc003kyr.2	P21796	OTTHUMG00000129118	ENST00000265333.3:c.324-60->A	5.37:g.133316718_133316718dupT			B3KVK4|D3DQ93|Q5FVE7|Q9UIQ5|Q9UPL0	RNA	INS	-	NULL	ENST00000265333.3	37	NULL	CCDS4168.1	5																																																																																			VDAC1	-	-		0.416	VDAC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	VDAC1	HGNC	protein_coding	OTTHUMT00000259208.1	-			133316708	-1	no_errors	ENST00000492324	ensembl	human	known	70_37	rna	INS	0.000:0.001	T
VWA3A	146177	genome.wustl.edu	37	16	22132909	22132909	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:22132909C>T	ENST00000389398.5	+	14	1423	c.1327C>T	c.(1327-1329)Cag>Tag	p.Q443*	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	443						extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACCTATTCTCCAGAAAACAGT	0.433																																																	0													173.0	172.0	172.0					16																	22132909		1869	4100	5969	SO:0001587	stop_gained	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.1327C>T	16.37:g.22132909C>T	ENSP00000374049:p.Gln443*		A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.Q443*	ENST00000389398.5	37	c.1327	CCDS45441.1	16	.	.	.	.	.	.	.	.	.	.	C	38	7.100020	0.98063	.	.	ENSG00000175267	ENST00000389398;ENST00000299840	.	.	.	5.77	3.75	0.43078	.	0.549901	0.19705	N	0.107958	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	.	11.7458	0.51819	0.1392:0.727:0.1338:0.0	.	.	.	.	X	443;66	.	ENSP00000299840:Q66X	Q	+	1	0	VWA3A	22040410	0.977000	0.34250	0.999000	0.59377	0.965000	0.64279	1.412000	0.34714	0.738000	0.32606	0.644000	0.83932	CAG	VWA3A	-	NULL		0.433	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	C			22132909	+1	no_errors	ENST00000389398	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WASH6P	653440	genome.wustl.edu	37	X	155254781	155254781	+	RNA	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chrX:155254781G>A	ENST00000461007.1	+	0	3697				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										AGGCAGGGCCGCTGCCCGCCC	0.587																																																	0																																												653440			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155254781G>A			A6NGF1|Q8N305	RNA	SNP	-	NULL	ENST00000461007.1	37	NULL		X																																																																																			WASH6P	-	-		0.587	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	G	NG_008380		155254781	+1	no_errors	ENST00000461007	ensembl	human	known	70_37	rna	SNP	0.039	A
WDFY3	23001	genome.wustl.edu	37	4	85731460	85731460	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr4:85731460C>G	ENST00000295888.4	-	14	2332	c.1925G>C	c.(1924-1926)aGa>aCa	p.R642T	WDFY3_ENST00000322366.6_Missense_Mutation_p.R642T|WDFY3-AS1_ENST00000510449.1_RNA	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	642					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AAAAACTGTTCTTGAACGATG	0.393																																																	0													48.0	43.0	45.0					4																	85731460		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.1925G>C	4.37:g.85731460C>G	ENSP00000295888:p.Arg642Thr		Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R642T	ENST00000295888.4	37	c.1925	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	32	5.174976	0.94807	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.54479	0.57;0.57	5.73	5.73	0.89815	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	T	0.73885	0.3644	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.973;0.998	T	0.75434	-0.3319	10	0.87932	D	0	.	19.8807	0.96899	0.0:1.0:0.0:0.0	.	642;642	E2QRK8;Q8IZQ1	.;WDFY3_HUMAN	T	642	ENSP00000318466:R642T;ENSP00000295888:R642T	ENSP00000295888:R642T	R	-	2	0	WDFY3	85950484	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.380000	0.79704	2.692000	0.91855	0.591000	0.81541	AGA	WDFY3	-	superfamily_ARM-type_fold		0.393	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85731460	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	G
WWP2	11060	genome.wustl.edu	37	16	69874115	69874115	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr16:69874115G>A	ENST00000359154.2	+	5	528	c.427G>A	c.(427-429)Ggg>Agg	p.G143R	WWP2_ENST00000448661.1_Missense_Mutation_p.G143R|WWP2_ENST00000356003.2_Missense_Mutation_p.G143R|WWP2_ENST00000569174.1_Missense_Mutation_p.G143R|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000542271.1_Missense_Mutation_p.G27R	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	143					cellular protein modification process (GO:0006464)|negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transporter activity (GO:0032410)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)|ubiquitin-protein transferase activity (GO:0004842)	p.G143R(1)		breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCCTGGACGGGCCAACTGT	0.582																																																	1	Substitution - Missense(1)	breast(1)											112.0	93.0	99.0					16																	69874115		2198	4300	6498	SO:0001583	missense	11060			BC013645	CCDS10885.1, CCDS58475.1, CCDS58476.1, CCDS58477.1	16q22.1	2008-02-05			ENSG00000198373	ENSG00000198373			16804	protein-coding gene	gene with protein product		602308				9169421, 12167593	Standard	NM_007014		Approved	AIP2	uc002exv.2	O00308	OTTHUMG00000137573	ENST00000359154.2:c.427G>A	16.37:g.69874115G>A	ENSP00000352069:p.Gly143Arg		A6NEP1|B2R706|B4DTL5|F5H213|H3BRF3|I3RSG8|Q6ZTQ5|Q96CZ2|Q9BWN6	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP	p.G143R	ENST00000359154.2	37	c.427	CCDS10885.1	16	.	.	.	.	.	.	.	.	.	.	G	26.1	4.702234	0.88924	.	.	ENSG00000198373	ENST00000359154;ENST00000448661;ENST00000356003;ENST00000544162;ENST00000542271	T;T;T;T	0.48836	0.8;0.8;0.8;1.09	5.37	5.37	0.77165	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.49813	0.1579	M	0.77313	2.365	0.80722	D	1	D	0.61080	0.989	B	0.42995	0.404	T	0.56673	-0.7940	9	.	.	.	.	11.7041	0.51587	0.0843:0.0:0.9157:0.0	.	143	O00308	WWP2_HUMAN	R	143;143;143;30;27	ENSP00000352069:G143R;ENSP00000396871:G143R;ENSP00000348283:G143R;ENSP00000445616:G27R	.	G	+	1	0	WWP2	68431616	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	6.825000	0.75293	2.512000	0.84698	0.655000	0.94253	GGG	WWP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.582	WWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WWP2	HGNC	protein_coding	OTTHUMT00000268954.1	G	NM_007014		69874115	+1	no_errors	ENST00000356003	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF184	7738	genome.wustl.edu	37	6	27419369	27419369	+	Silent	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:27419369G>A	ENST00000211936.6	-	6	2253	c.1969C>T	c.(1969-1971)Cta>Tta	p.L657L	ZNF184_ENST00000377419.1_Silent_p.L657L	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	657					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TGCTGAGTTAGATGGGAGCTC	0.423																																																	0													100.0	105.0	104.0					6																	27419369		2203	4300	6503	SO:0001819	synonymous_variant	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1969C>T	6.37:g.27419369G>A			B2R715|O60792|Q8TBA9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L657	ENST00000211936.6	37	c.1969	CCDS4624.1	6																																																																																			ZNF184	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF184	HGNC	protein_coding	OTTHUMT00000040146.1	G	NM_007149		27419369	-1	no_errors	ENST00000211936	ensembl	human	known	70_37	silent	SNP	0.125	A
ZBTB12	221527	genome.wustl.edu	37	6	31868109	31868109	+	Missense_Mutation	SNP	G	G	A	rs555290175		TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr6:31868109G>A	ENST00000375527.2	-	2	1149	c.974C>T	c.(973-975)tCa>tTa	p.S325L	C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375530.4_5'Flank|C2_ENST00000469372.1_Intron|EHMT2_ENST00000375537.4_5'Flank	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	325	Gly-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						GTTTCCACCTGAGAAGCCCCC	0.682													G|||	1	0.000199681	0.0008	0.0	5008	,	,		8101	0.0		0.0	False		,,,				2504	0.0																0													16.0	18.0	17.0					6																	31868109		2190	4283	6473	SO:0001583	missense	221527			BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.974C>T	6.37:g.31868109G>A	ENSP00000364677:p.Ser325Leu		B0UY00|Q5JQ98	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.S325L	ENST00000375527.2	37	c.974	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	G	2.573	-0.299099	0.05532	.	.	ENSG00000204366	ENST00000375527	T	0.13538	2.58	3.26	0.438	0.16560	.	0.649495	0.12164	U	0.493662	T	0.01695	0.0054	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	10	0.52906	T	0.07	.	3.473	0.07574	0.3193:0.0:0.5039:0.1768	.	325	Q9Y330	ZBT12_HUMAN	L	325	ENSP00000364677:S325L	ENSP00000364677:S325L	S	-	2	0	ZBTB12	31976088	0.000000	0.05858	0.001000	0.08648	0.369000	0.29798	0.156000	0.16382	-0.140000	0.11394	0.313000	0.20887	TCA	ZBTB12	-	NULL		0.682	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2	G	NM_181842		31868109	-1	no_errors	ENST00000375527	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF227	7770	genome.wustl.edu	37	19	44740265	44740265	+	Nonsense_Mutation	SNP	C	C	G			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:44740265C>G	ENST00000313040.7	+	6	1887	c.1682C>G	c.(1681-1683)tCa>tGa	p.S561*	ZNF227_ENST00000391961.2_Nonsense_Mutation_p.S510*|ZNF235_ENST00000589799.1_3'UTR|ZNF227_ENST00000589005.1_Nonsense_Mutation_p.S510*	NM_182490.1	NP_872296.1	Q86WZ6	ZN227_HUMAN	zinc finger protein 227	561					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)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(2)|stomach(1)|urinary_tract(1)	24		Prostate(69;0.0435)				AGTTATAGTTCAAATCTTAAA	0.413																																																	0													72.0	78.0	76.0					19																	44740265		2203	4300	6503	SO:0001587	stop_gained	7770			AK092253	CCDS12636.1, CCDS74388.1	19q13.32	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	13020	protein-coding gene	gene with protein product							Standard	XM_005259232		Approved		uc002oyu.3	Q86WZ6		ENST00000313040.7:c.1682C>G	19.37:g.44740265C>G	ENSP00000321049:p.Ser561*		B3KRU7|B7Z5P9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S561*	ENST00000313040.7	37	c.1682	CCDS12636.1	19	.	.	.	.	.	.	.	.	.	.	C	23.1	4.378186	0.82682	.	.	ENSG00000131115	ENST00000313040;ENST00000328297;ENST00000391961;ENST00000418980	.	.	.	4.4	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	8.0326	0.30474	0.1629:0.7436:0.0:0.0935	.	.	.	.	X	561;518;510;540	.	ENSP00000321049:S561X	S	+	2	0	ZNF227	49432105	0.000000	0.05858	0.073000	0.20177	0.498000	0.33706	-0.337000	0.07852	2.143000	0.66587	0.655000	0.94253	TCA	ZNF227	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF227-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF227	HGNC	protein_coding	OTTHUMT00000460720.1	C	NM_182490		44740265	+1	no_errors	ENST00000313040	ensembl	human	known	70_37	nonsense	SNP	0.000	G
ZNF236	7776	genome.wustl.edu	37	18	74620481	74620481	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr18:74620481G>A	ENST00000253159.8	+	14	2695	c.2497G>A	c.(2497-2499)Gca>Aca	p.A833T	ZNF236_ENST00000320610.9_Missense_Mutation_p.A835T	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	833					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CACGGAGGAAGCAGGGCTGGG	0.587																																																	0													56.0	66.0	63.0					18																	74620481		2083	4218	6301	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.2497G>A	18.37:g.74620481G>A	ENSP00000253159:p.Ala833Thr		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A833T	ENST00000253159.8	37	c.2497	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	8.086	0.773472	0.16051	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.10668	2.85;3.03	4.94	-2.12	0.07165	.	0.497073	0.21219	N	0.078179	T	0.03959	0.0111	N	0.17474	0.49	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39663	-0.9603	10	0.11794	T	0.64	.	2.3752	0.04340	0.4426:0.2073:0.2451:0.105	.	833	Q9UL36	ZN236_HUMAN	T	833	ENSP00000253159:A833T;ENSP00000444524:A833T	ENSP00000253159:A833T	A	+	1	0	ZNF236	72749469	0.000000	0.05858	0.000000	0.03702	0.218000	0.24690	-0.452000	0.06787	-0.382000	0.07870	0.467000	0.42956	GCA	ZNF236	-	NULL		0.587	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74620481	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	0.003	A
ZNF25	219749	genome.wustl.edu	37	10	38242111	38242111	+	Silent	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr10:38242111G>C	ENST00000302609.7	-	6	527	c.315C>G	c.(313-315)ctC>ctG	p.L105L	ZNF25_ENST00000374633.1_5'UTR|AL117337.1_ENST00000582458.1_RNA	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				GATGTTTTGTGAGTTCTCCAT	0.423																																																	0													82.0	82.0	82.0					10																	38242111		2203	4300	6503	SO:0001819	synonymous_variant	219749			AK056452	CCDS7195.1	10p11.2	2013-01-08	2006-05-10		ENSG00000175395	ENSG00000175395		"""Zinc fingers, C2H2-type"", ""-"""	13043	protein-coding gene	gene with protein product		194528	"""zinc finger protein 25 (KOX 19)"""			1639412, 8464732	Standard	NM_145011		Approved	KOX19, FLJ31890, Zfp9	uc001ize.1	P17030	OTTHUMG00000019344	ENST00000302609.7:c.315C>G	10.37:g.38242111G>C			A9Z1X5|Q8IYE3|Q8NDD6|Q96MU2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L105	ENST00000302609.7	37	c.315	CCDS7195.1	10																																																																																			ZNF25	-	NULL		0.423	ZNF25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF25	HGNC	protein_coding	OTTHUMT00000051214.1	G	NM_145011, NM_006966		38242111	-1	no_errors	ENST00000302609	ensembl	human	known	70_37	silent	SNP	0.000	C
ZNF559	84527	genome.wustl.edu	37	19	9453513	9453513	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:9453513G>C	ENST00000393883.2	+	6	2034	c.1386G>C	c.(1384-1386)gaG>gaC	p.E462D	ZNF559_ENST00000538743.1_Missense_Mutation_p.E382D|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Missense_Mutation_p.E526D|ZNF177_ENST00000602738.1_Intron|CTC-325H20.2_ENST00000592371.1_lincRNA|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000603380.1_Missense_Mutation_p.E462D|ZNF177_ENST00000602856.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	462					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATACAGGGGAGAGGCCATATA	0.448																																																	0													70.0	63.0	66.0					19																	9453513		2203	4300	6503	SO:0001583	missense	84527			AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.1386G>C	19.37:g.9453513G>C	ENSP00000377461:p.Glu462Asp		K7EMG6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E462D	ENST00000393883.2	37	c.1386	CCDS12211.1	19	.	.	.	.	.	.	.	.	.	.	G	15.07	2.725490	0.48833	.	.	ENSG00000188321	ENST00000317221;ENST00000538743;ENST00000393883	T;T	0.26810	1.71;1.71	2.22	1.17	0.20885	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.35422	0.0931	L	0.49256	1.55	0.24034	N	0.996103	B;P;P	0.43431	0.352;0.807;0.609	B;P;B	0.55999	0.278;0.789;0.207	T	0.14587	-1.0467	9	0.62326	D	0.03	.	6.813	0.23814	0.1545:0.0:0.8455:0.0	.	462;462;382	B3KPL8;Q9BR84;B4DP29	.;ZN559_HUMAN;.	D	462;382;462	ENSP00000442832:E382D;ENSP00000377461:E462D	ENSP00000325393:E462D	E	+	3	2	ZNF559	9314513	0.509000	0.26163	0.024000	0.17045	0.263000	0.26337	0.251000	0.18257	0.494000	0.27859	0.313000	0.20887	GAG	ZNF559	-	pfscan_Znf_C2H2		0.448	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF559	HGNC	protein_coding	OTTHUMT00000449021.1	G	NM_032497		9453513	+1	no_errors	ENST00000393883	ensembl	human	known	70_37	missense	SNP	0.998	C
ZNF676	163223	genome.wustl.edu	37	19	22362882	22362882	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:22362882G>A	ENST00000397121.2	-	3	1954	c.1637C>T	c.(1636-1638)tCa>tTa	p.S546L		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	546					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AGTAAGGCTTGAGGATCTGCT	0.408																																																	0													63.0	66.0	65.0					19																	22362882		2127	4254	6381	SO:0001583	missense	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1637C>T	19.37:g.22362882G>A	ENSP00000380310:p.Ser546Leu		A8MVX5	Missense_Mutation	SNP	pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S546L	ENST00000397121.2	37	c.1637	CCDS42539.1	19	.	.	.	.	.	.	.	.	.	.	.	12.14	1.847787	0.32606	.	.	ENSG00000196109	ENST00000397121	T	0.01705	4.68	0.819	0.819	0.18785	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03220	0.0094	M	0.74647	2.275	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.28267	-1.0049	9	0.66056	D	0.02	.	8.4124	0.32651	0.0:0.0:1.0:0.0	.	546	Q8N7Q3	ZN676_HUMAN	L	546	ENSP00000380310:S546L	ENSP00000380310:S546L	S	-	2	0	ZNF676	22154722	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-0.500000	0.06405	0.191000	0.20236	0.194000	0.17425	TCA	ZNF676	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	HGNC	protein_coding	OTTHUMT00000464392.1	G	NM_001001411		22362882	-1	no_errors	ENST00000397121	ensembl	human	known	70_37	missense	SNP	0.004	A
ZNF615	284370	genome.wustl.edu	37	19	52496664	52496664	+	Silent	SNP	G	G	C			TCGA-C5-A1BL-01A-11D-A13W-08	TCGA-C5-A1BL-10A-01D-A13W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	15cd6298-445f-487a-b50a-04da5002b6ba	cb1606df-1249-4b8c-b3a8-2459fc404891	g.chr19:52496664G>C	ENST00000602063.1	-	6	2014	c.1665C>G	c.(1663-1665)ctC>ctG	p.L555L	ZNF615_ENST00000594083.1_Silent_p.L566L|ZNF615_ENST00000391795.3_Silent_p.L560L|ZNF615_ENST00000376716.5_Silent_p.L555L|ZNF615_ENST00000598071.1_Silent_p.L566L			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	555					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)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		GATGTACATTGAGATGACTCT	0.448																																																	0													118.0	103.0	108.0					19																	52496664		2203	4300	6503	SO:0001819	synonymous_variant	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1665C>G	19.37:g.52496664G>C			B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L566	ENST00000602063.1	37	c.1698	CCDS12846.1	19																																																																																			ZNF615	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	G	NM_198480		52496664	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	silent	SNP	0.004	C
