#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_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
DOK7	285489	genome.wustl.edu	37	4	3502057	3502057	+	Silent	SNP	C	C	T	rs143778632	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:3502057C>T	ENST00000389653.2	+	9	1690	c.1620C>T	c.(1618-1620)ccC>ccT	p.P540P	DOK7_ENST00000512714.1_3'UTR			Q18PE1	DOK7_HUMAN	docking protein 7	0					neuromuscular junction development (GO:0007528)|positive regulation of protein tyrosine kinase activity (GO:0061098)|receptor clustering (GO:0043113)	cell junction (GO:0030054)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|protein kinase binding (GO:0019901)			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TGAACATCCCCGTCAGCCCAT	0.687													.|||	26	0.00519169	0.0008	0.0058	5008	,	,		15315	0.0		0.0189	False		,,,				2504	0.002															0			4																																								3471855	SO:0001819	synonymous_variant	285489			AK091037	CCDS3370.2, CCDS54717.1	4p16.2	2014-09-17	2006-08-24	2006-08-24	ENSG00000175920	ENSG00000175920			26594	protein-coding gene	gene with protein product		610285	"""chromosome 4 open reading frame 25"""	C4orf25		16794080	Standard	NM_173660		Approved	FLJ33718, FLJ39137, Dok-7	uc003ghd.3	Q18PE1	OTTHUMG00000122087	ENST00000389653.2:c.1620C>T	4.37:g.3502057C>T			3471855	A2A499|A2RRD4|E9PB56|Q6P6A6|Q86XG5|Q8N2J3|Q8NBC1	Silent	SNP	superfamily_SSF50729,HMMSmart_PH	p.P540	ENST00000389653.2	37	c.1620		4																																																																																			-	NULL		0.687	DOK7-201	KNOWN	basic|appris_candidate_longest	protein_coding	DOK7	protein_coding		C	NM_173660		3471855	+1	no_errors	ENST00000389653	ensembl	human	known	54_36p	silent	SNP	0.988	T
CRMP1	1400	genome.wustl.edu	37	4	5843122	5843122	+	Missense_Mutation	SNP	T	T	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:5843122T>G	ENST00000397890.2	-	8	938	c.724A>C	c.(724-726)Att>Ctt	p.I242L	CRMP1_ENST00000512574.1_Missense_Mutation_p.I240L|CRMP1_ENST00000324989.7_Missense_Mutation_p.I356L|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	242					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		CGGCCCGCAATGGTGATGGCC	0.587																																																0			4											161.0	151.0	154.0					4																	5843122		2203	4300	6503	5894023	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.724A>C	4.37:g.5843122T>G	ENSP00000380987:p.Ile242Leu		5894023	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556	p.I356L	ENST00000397890.2	37	c.1066	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	T	9.588	1.125435	0.20959	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	D;D;D	0.89270	-2.49;-2.49;-2.49	4.44	4.44	0.53790	Amidohydrolase 1 (1);Metal-dependent hydrolase, composite domain (1);	0.055721	0.64402	D	0.000002	T	0.77785	0.4182	N	0.04880	-0.145	0.53688	D	0.999979	B;B;B;B	0.10296	0.001;0.003;0.001;0.003	B;B;B;B	0.24155	0.015;0.023;0.023;0.051	T	0.72824	-0.4176	10	0.32370	T	0.25	-23.4934	13.0217	0.58791	0.0:0.0:0.0:1.0	.	356;240;242;179	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	L	356;242;242;240	ENSP00000321606:I356L;ENSP00000380987:I242L;ENSP00000425742:I240L	ENSP00000321606:I356L	I	-	1	0	CRMP1	5894023	1.000000	0.71417	0.992000	0.48379	0.008000	0.06430	2.340000	0.43974	1.883000	0.54544	0.260000	0.18958	ATT	-	superfamily_Metalo_hydrolase,HMMPfam_Amidohydro_1,superfamily_SSF51556		0.587	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	protein_coding	OTTHUMT00000358871.1	T	NM_001313		5894023	-1	no_errors	NM_001014809	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TP53	7157	genome.wustl.edu	37	17	7579591	7579591	+	Splice_Site	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:7579591C>T	ENST00000269305.4	-	4	286		c.e4-1		TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(8)|p.0?(8)|p.L35fs*10(3)|p.S33fs*10(1)|p.P13fs*18(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAGGGGGACTGTAGATGGG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	21	Unknown(11)|Whole gene deletion(8)|Insertion - Frameshift(1)|Deletion - Frameshift(1)	bone(4)|large_intestine(3)|central_nervous_system(3)|lung(3)|pancreas(3)|upper_aerodigestive_tract(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	17	GRCh37	CS971912	TP53	S							141.0	137.0	138.0					17																	7579591		2203	4300	6503	7520316	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.97-1G>A	17.37:g.7579591C>T			7520316	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e3-1	ENST00000269305.4	37	c.97-1	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	6.702	0.498192	0.12762	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	.	.	.	2.49	2.49	0.30216	.	.	.	.	.	.	.	.	.	.	.	0.40380	D	0.979434	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6143	0.33822	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7520316	0.879000	0.30193	0.021000	0.16686	0.027000	0.11550	1.937000	0.40193	1.730000	0.51580	0.561000	0.74099	.	-	-		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546	Intron	7520316	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	splice_site	SNP	0.209	T
ATP5C1	509	genome.wustl.edu	37	10	7830180	7830180	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr10:7830180C>T	ENST00000356708.7	+	1	89	c.10C>T	c.(10-12)Cgc>Tgc	p.R4C	ATP5C1_ENST00000541227.1_5'UTR|KIN_ENST00000535925.1_5'Flank|KIN_ENST00000543003.1_5'Flank|ATP5C1_ENST00000335698.4_Missense_Mutation_p.R4C|ATP5C1_ENST00000493053.1_3'UTR|KIN_ENST00000379562.4_5'Flank	NM_001001973.1	NP_001001973.1	P36542	ATPG_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, gamma polypeptide 1	4					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)			breast(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	16						CATGTTCTCTCGCGCGGGTGT	0.662																																					Melanoma(143;1012 1820 16249 30920 33158)											0			10											37.0	35.0	36.0					10																	7830180		2203	4300	6503	7870186	SO:0001583	missense	509			D16561	CCDS7081.1, CCDS31142.1	10p14	2012-10-12			ENSG00000165629	ENSG00000165629		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	833	protein-coding gene	gene with protein product		108729		ATP5CL1, ATP5C		8168843, 8227057	Standard	NM_005174		Approved		uc001iju.3	P36542	OTTHUMG00000017639	ENST00000356708.7:c.10C>T	10.37:g.7830180C>T	ENSP00000349142:p.Arg4Cys		7870186	A8KA31|Q5VYP3|Q6I9V2|Q96AS8	Missense_Mutation	SNP	HMMPfam_ATP-synt,superfamily_ATP synthase (F1-ATPase) gamma subunit,PatternScan_ATPASE_GAMMA	p.R4C	ENST00000356708.7	37	c.10	CCDS31142.1	10	.	.	.	.	.	.	.	.	.	.	C	14.43	2.532238	0.45073	.	.	ENSG00000165629	ENST00000356708;ENST00000335698	.	.	.	5.86	1.56	0.23342	.	0.047662	0.85682	D	0.000000	T	0.32526	0.0832	L	0.46157	1.445	0.23791	N	0.996834	B	0.25521	0.128	B	0.17098	0.017	T	0.35549	-0.9784	9	0.87932	D	0	-0.3204	9.4131	0.38505	0.3501:0.5842:0.0:0.0656	.	4	P36542	ATPG_HUMAN	C	4	.	ENSP00000338568:R4C	R	+	1	0	ATP5C1	7870186	0.885000	0.30320	0.368000	0.25939	0.002000	0.02628	0.955000	0.29188	0.816000	0.34421	-0.897000	0.02905	CGC	-	NULL		0.662	ATP5C1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP5C1	protein_coding	OTTHUMT00000046708.1	C	NM_005174		7870186	+1	no_errors	NM_001001973	genbank	human	reviewed	54_36p	missense	SNP	0.993	T
ALOX15B	247	genome.wustl.edu	37	17	7949991	7949991	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:7949991G>A	ENST00000380183.4	+	9	1345	c.1206G>A	c.(1204-1206)ctG>ctA	p.L402L	ALOX15B_ENST00000572022.1_Silent_p.L402L|ALOX15B_ENST00000380173.2_Intron|ALOX15B_ENST00000573359.1_Intron	NM_001141.2	NP_001132.2	O15296	LX15B_HUMAN	arachidonate 15-lipoxygenase, type B	402	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				apoptotic process (GO:0006915)|arachidonic acid metabolic process (GO:0019369)|hepoxilin biosynthetic process (GO:0051122)|linoleic acid metabolic process (GO:0043651)|lipid metabolic process (GO:0006629)|lipoxygenase pathway (GO:0019372)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of growth (GO:0045926)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostate gland development (GO:0030850)|regulation of epithelial cell differentiation (GO:0030856)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	arachidonate 15-lipoxygenase activity (GO:0050473)|arachidonate 8(S)-lipoxygenase activity (GO:0036403)|calcium ion binding (GO:0005509)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|lipid binding (GO:0008289)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TGCAGCTGCTGATCCCGCACA	0.622																																																0			17											52.0	47.0	49.0					17																	7949991		2203	4300	6503	7890716	SO:0001819	synonymous_variant	247			U78294	CCDS11128.1, CCDS32558.1, CCDS32559.1	17p13.1	2013-03-20	2006-01-16		ENSG00000179593	ENSG00000179593	1.13.11.33	"""Arachidonate lipoxygenases"""	434	protein-coding gene	gene with protein product		603697	"""arachidonate 15-lipoxygenase, second type"""			9177185	Standard	NM_001039130		Approved	15-LOX-2	uc002gju.3	O15296	OTTHUMG00000108181	ENST00000380183.4:c.1206G>A	17.37:g.7949991G>A			7890716	D3DTR2|Q8IYQ2|Q8TEV3|Q8TEV4|Q8TEV5|Q8TEV6|Q9UKM4	Silent	SNP	HMMPfam_PLAT,HMMSmart_SM00308,superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),superfamily_Lipoxigenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2,PatternScan_IG_MHC	p.L402	ENST00000380183.4	37	c.1206	CCDS11128.1	17																																																																																			-	superfamily_Lipoxigenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_2		0.622	ALOX15B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX15B	protein_coding	OTTHUMT00000226985.2	G			7890716	+1	no_errors	NM_001141	genbank	human	reviewed	54_36p	silent	SNP	0.982	A
ANKRD12	23253	genome.wustl.edu	37	18	9256100	9256100	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr18:9256100A>T	ENST00000262126.4	+	9	3075	c.2835A>T	c.(2833-2835)aaA>aaT	p.K945N	ANKRD12_ENST00000400020.3_Missense_Mutation_p.K922N|ANKRD12_ENST00000383440.2_Missense_Mutation_p.K922N	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12	945						cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AATACAGTAAATCAGAAAAAG	0.299																																																0			18											23.0	24.0	24.0					18																	9256100		2163	4259	6422	9246100	SO:0001583	missense	23253			AY373757	CCDS11843.1, CCDS42411.1	18p11.22	2013-01-10			ENSG00000101745	ENSG00000101745		"""Ankyrin repeat domain containing"""	29135	protein-coding gene	gene with protein product		610616				10048485	Standard	NM_001204056		Approved	KIAA0874, FLJ20053, GAC-1	uc002knv.3	Q6UB98	OTTHUMG00000131595	ENST00000262126.4:c.2835A>T	18.37:g.9256100A>T	ENSP00000262126:p.Lys945Asn		9246100	O94951|Q658K1|Q6QMF7|Q9H231|Q9H784	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank	p.K945N	ENST00000262126.4	37	c.2835	CCDS11843.1	18	.	.	.	.	.	.	.	.	.	.	A	12.64	1.998097	0.35226	.	.	ENSG00000101745	ENST00000383440;ENST00000262126	T;T	0.42131	0.98;0.98	5.49	3.04	0.35103	.	0.098849	0.64402	D	0.000002	T	0.35595	0.0937	L	0.29908	0.895	0.38980	D	0.958921	P;P	0.47191	0.836;0.891	P;B	0.46758	0.526;0.439	T	0.19549	-1.0302	10	0.66056	D	0.02	-8.3477	9.55	0.39304	0.7328:0.0:0.2672:0.0	.	922;945	Q6UB98-2;Q6UB98	.;ANR12_HUMAN	N	922;945	ENSP00000372932:K922N;ENSP00000262126:K945N	ENSP00000262126:K945N	K	+	3	2	ANKRD12	9246100	0.971000	0.33674	0.994000	0.49952	0.781000	0.44180	2.015000	0.40961	0.352000	0.24053	0.455000	0.32223	AAA	-	superfamily_Ankyrin repeat		0.299	ANKRD12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD12	protein_coding	OTTHUMT00000254478.2	A	NM_015208		9246100	+1	no_errors	NM_015208	genbank	human	validated	54_36p	missense	SNP	0.994	T
ATG4D	84971	genome.wustl.edu	37	19	10662596	10662596	+	Missense_Mutation	SNP	C	C	G	rs372453420		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:10662596C>G	ENST00000309469.4	+	7	1163	c.990C>G	c.(988-990)tgC>tgG	p.C330W	ATG4D_ENST00000540862.1_5'UTR|MIR1238_ENST00000408483.1_RNA|RNU7-140P_ENST00000459546.1_RNA	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	330					apoptotic process (GO:0006915)|autophagy (GO:0006914)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GCGAGCTGTGCCTGGGCATCA	0.617																																																0			19											74.0	68.0	70.0					19																	10662596		2203	4300	6503	10523596	SO:0001583	missense	84971			AJ312332	CCDS12241.1	19p13.2	2014-02-12	2012-06-06	2005-09-11	ENSG00000130734	ENSG00000130734			20789	protein-coding gene	gene with protein product		611340	"""AUT-like 4, cysteine endopeptidase (S. cerevisiae)"", ""APG4 autophagy 4 homolog D (S. cerevisiae)"", ""ATG4 autophagy related 4 homolog D (S. cerevisiae)"""	AUTL4, APG4D		12446702	Standard	NM_032885		Approved	APG4-D	uc002mov.3	Q86TL0	OTTHUMG00000180582	ENST00000309469.4:c.990C>G	19.37:g.10662596C>G	ENSP00000311318:p.Cys330Trp		10523596	Q969K0	Missense_Mutation	SNP	HMMPfam_Peptidase_C54	p.C330W	ENST00000309469.4	37	c.990	CCDS12241.1	19	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099269	0.56183	.	.	ENSG00000130734	ENST00000309469	T	0.46063	0.88	5.17	3.05	0.35203	.	0.000000	0.85682	D	0.000000	T	0.64483	0.2602	M	0.87971	2.92	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.65651	-0.6116	10	0.66056	D	0.02	-14.041	8.2512	0.31724	0.0:0.7498:0.0:0.2502	.	267;330	B4DGM8;Q86TL0	.;ATG4D_HUMAN	W	330	ENSP00000311318:C330W	ENSP00000311318:C330W	C	+	3	2	ATG4D	10523596	0.947000	0.32204	1.000000	0.80357	0.801000	0.45260	0.393000	0.20817	0.697000	0.31718	-0.140000	0.14226	TGC	-	HMMPfam_Peptidase_C54		0.617	ATG4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATG4D	protein_coding	OTTHUMT00000452022.1	C	NM_032885		10523596	+1	no_errors	NM_032885	genbank	human	reviewed	54_36p	missense	SNP	0.999	G
BRD4	23476	genome.wustl.edu	37	19	15349880	15349880	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:15349880C>G	ENST00000263377.2	-	18	3993	c.3772G>C	c.(3772-3774)Gag>Cag	p.E1258Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1258	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			CTCATGCGCTCCTGCCGCAGC	0.687			T	C15orf55	lethal midline carcinoma of young people																																		Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0			19											12.0	17.0	15.0					19																	15349880		2190	4284	6474	15210880	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3772G>C	19.37:g.15349880C>G	ENSP00000263377:p.Glu1258Gln		15210880	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.E1258Q	ENST00000263377.2	37	c.3772	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	15.39	2.818330	0.50633	.	.	ENSG00000141867	ENST00000263377	T	0.32515	1.45	4.87	4.87	0.63330	.	0.000000	0.53938	D	0.000053	T	0.52370	0.1730	L	0.58101	1.795	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.53648	-0.8409	10	0.54805	T	0.06	-28.0191	16.8272	0.85934	0.0:1.0:0.0:0.0	.	1258	O60885	BRD4_HUMAN	Q	1258	ENSP00000263377:E1258Q	ENSP00000263377:E1258Q	E	-	1	0	BRD4	15210880	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.420000	0.66441	2.233000	0.73108	0.550000	0.68814	GAG	-	NULL		0.687	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15210880	-1	no_errors	NM_058243	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SATB1	6304	genome.wustl.edu	37	3	18390872	18390872	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:18390872C>T	ENST00000338745.6	-	11	3816	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	SATB1_ENST00000417717.2_Silent_p.Q726Q|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Silent_p.Q694Q	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	694					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ACCGCTGGTTCTGAAAGAACT	0.498																																																0			3											193.0	191.0	191.0					3																	18390872		2203	4300	6503	18365876	SO:0001819	synonymous_variant	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.2082G>A	3.37:g.18390872C>T			18365876	B3KXF1|C9JTR6|Q59EQ0	Silent	SNP	HMMPfam_CUT,HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox	p.Q694	ENST00000338745.6	37	c.2082	CCDS2631.1	3																																																																																			-	HMMSmart_SM00389,superfamily_Homeodomain-like,HMMPfam_Homeobox		0.498	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	C	NM_001131010		18365876	-1	no_errors	NM_002971	genbank	human	validated	54_36p	silent	SNP	1.000	T
SATB1	6304	genome.wustl.edu	37	3	18390994	18390994	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:18390994C>T	ENST00000338745.6	-	11	3694	c.1960G>A	c.(1960-1962)Gaa>Aaa	p.E654K	SATB1_ENST00000417717.2_Missense_Mutation_p.E686K|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.E654K	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	654					activated T cell proliferation (GO:0050798)|apoptotic process (GO:0006915)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|epidermis development (GO:0008544)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|reflex (GO:0060004)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nuclear heterochromatin (GO:0005720)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CCCAAGGCTTCCACTGAAATT	0.577																																																0			3											83.0	84.0	84.0					3																	18390994		2203	4300	6503	18365998	SO:0001583	missense	6304				CCDS2631.1, CCDS56242.1	3p24.3	2011-07-19	2007-02-15		ENSG00000182568	ENSG00000182568		"""Homeoboxes / CUT class"""	10541	protein-coding gene	gene with protein product		602075	"""special AT-rich sequence binding protein 1 (binds to nuclear matrix/scaffold-associating DNA)"""			1505028	Standard	NM_002971		Approved		uc003cbj.3	Q01826	OTTHUMG00000129890	ENST00000338745.6:c.1960G>A	3.37:g.18390994C>T	ENSP00000341024:p.Glu654Lys		18365998	B3KXF1|C9JTR6|Q59EQ0	Missense_Mutation	SNP	HMMPfam_Homeobox,HMMSmart_SM00389,HMMPfam_CUT,superfamily_Homeodomain-like	p.E654K	ENST00000338745.6	37	c.1960	CCDS2631.1	3	.	.	.	.	.	.	.	.	.	.	C	22.0	4.227420	0.79576	.	.	ENSG00000182568	ENST00000338745;ENST00000454909;ENST00000417717	D;D;D	0.96587	-4.06;-4.06;-4.06	5.08	5.08	0.68730	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.171570	0.53938	D	0.000050	D	0.96852	0.8972	L	0.32530	0.975	0.80722	D	1	P;D	0.89917	0.669;1.0	B;D	0.91635	0.423;0.999	D	0.97994	1.0356	10	0.72032	D	0.01	-8.7005	18.4734	0.90782	0.0:1.0:0.0:0.0	.	686;654	Q01826-2;Q01826	.;SATB1_HUMAN	K	654;654;686	ENSP00000341024:E654K;ENSP00000399708:E654K;ENSP00000399518:E686K	ENSP00000341024:E654K	E	-	1	0	SATB1	18365998	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.659000	0.83766	2.350000	0.79820	0.462000	0.41574	GAA	-	HMMPfam_Homeobox,HMMSmart_SM00389,superfamily_Homeodomain-like		0.577	SATB1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SATB1	protein_coding	OTTHUMT00000252138.4	C	NM_001131010		18365998	-1	no_errors	NM_002971	genbank	human	validated	54_36p	missense	SNP	1.000	T
TAS1R2	80834	genome.wustl.edu	37	1	19166641	19166641	+	Missense_Mutation	SNP	C	C	T	rs145202761		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:19166641C>T	ENST00000375371.3	-	6	1993	c.1972G>A	c.(1972-1974)Gcc>Acc	p.A658T		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	658					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytokinesis (GO:0032467)|sensory perception of sweet taste (GO:0050916)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATCTTGAAGGCGCAGACGATC	0.587																																																0			1						C	THR/ALA	1,4405	2.1+/-5.4	0,1,2202	127.0	131.0	130.0		1972	-5.7	0.0	1	dbSNP_134	130	0,8600		0,0,4300	yes	missense	TAS1R2	NM_152232.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	658/840	19166641	1,13005	2203	4300	6503	19039228	SO:0001583	missense	80834				CCDS187.1	1p36.13	2012-08-22	2003-03-07		ENSG00000179002	ENSG00000179002		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	14905	protein-coding gene	gene with protein product		606226	"""G protein-coupled receptor 71"""	GPR71			Standard	NM_152232		Approved	T1R2, TR2	uc001bba.1	Q8TE23	OTTHUMG00000002442	ENST00000375371.3:c.1972G>A	1.37:g.19166641C>T	ENSP00000364520:p.Ala658Thr		19039228	Q5TZ19	Missense_Mutation	SNP	PatternScan_G_PROTEIN_RECEP_F3_1,PatternScan_G_PROTEIN_RECEP_F3_3,superfamily_SSF53822,HMMPfam_ANF_receptor,HMMPfam_NCD3G,superfamily_SSF57586,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3	p.A658T	ENST00000375371.3	37	c.1972	CCDS187.1	1	.	.	.	.	.	.	.	.	.	.	C	11.35	1.614029	0.28712	2.27E-4	0.0	ENSG00000179002	ENST00000375371	D	0.89196	-2.48	5.22	-5.66	0.02451	GPCR, family 3, C-terminal (2);	0.643178	0.13516	N	0.382070	T	0.80476	0.4630	L	0.29908	0.895	0.09310	N	1	B	0.27316	0.175	B	0.27608	0.081	T	0.65417	-0.6173	10	0.66056	D	0.02	.	13.4935	0.61411	0.0:0.3069:0.0:0.6931	.	658	Q8TE23	TS1R2_HUMAN	T	658	ENSP00000364520:A658T	ENSP00000364520:A658T	A	-	1	0	TAS1R2	19039228	0.000000	0.05858	0.012000	0.15200	0.155000	0.21991	-1.792000	0.01756	-1.060000	0.03189	0.561000	0.74099	GCC	-	HMMPfam_7tm_3		0.587	TAS1R2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	TAS1R2	protein_coding	OTTHUMT00000006953.1	C			19039228	-1	no_errors	NM_152232	genbank	human	validated	54_36p	missense	SNP	0.973	T
KCNH8	131096	genome.wustl.edu	37	3	19384194	19384194	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:19384194G>C	ENST00000328405.2	+	4	824	c.558G>C	c.(556-558)ttG>ttC	p.L186F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	186					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGAACAAATTGAAAATAAATA	0.458																																					NSCLC(124;1625 1765 8018 24930 42026)											0			3											77.0	80.0	79.0					3																	19384194		2203	4300	6503	19359198	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.558G>C	3.37:g.19384194G>C	ENSP00000328813:p.Leu186Phe		19359198	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	PatternScan_CNMP_BINDING_1,PatternScan_CNMP_BINDING_2,superfamily_SSF55785,HMMPfam_PAS,HMMSmart_PAC,superfamily_SSF81324,HMMPfam_Ion_trans,superfamily_cNMP_binding,HMMSmart_cNMP,HMMPfam_cNMP_binding	p.L186F	ENST00000328405.2	37	c.558	CCDS2632.1	3	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075651	0.55646	.	.	ENSG00000183960	ENST00000328405	D	0.98889	-5.21	5.81	5.81	0.92471	.	0.000000	0.27219	U	0.020369	D	0.97835	0.9289	L	0.55213	1.73	0.80722	D	1	B;D	0.54772	0.048;0.968	B;P	0.54460	0.024;0.753	D	0.96198	0.9143	9	.	.	.	.	7.6187	0.28173	0.194:0.0:0.806:0.0	.	186;186	B7Z398;Q96L42	.;KCNH8_HUMAN	F	186	ENSP00000328813:L186F	.	L	+	3	2	KCNH8	19359198	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.280000	0.43443	2.750000	0.94351	0.585000	0.79938	TTG	-	NULL		0.458	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH8	protein_coding	OTTHUMT00000252139.2	G	NM_144633		19359198	+1	no_errors	NM_144633	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
IGLV4-60	28785	genome.wustl.edu	37	22	22516859	22516859	+	RNA	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr22:22516859C>G	ENST00000390284.2	+	0	147									immunoglobulin lambda variable 4-60																		GCAGTGGGCACAGTAGCTACA	0.567																																																0			22											91.0	92.0	92.0					22																	22516859		2128	4250	6378	20846859			0			Z73667		22q11.2	2012-02-08			ENSG00000211639	ENSG00000211639		"""Immunoglobulins / IGL locus"""	5920	other	immunoglobulin gene							Standard	NG_000002		Approved				OTTHUMG00000150851		22.37:g.22516859C>G			20846859		Missense_Mutation	SNP	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406	p.H49Q	ENST00000390284.2	37	c.147		22																																																																																			-	HMMPfam_V-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00406		0.567	IGLV4-60-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGLV4-60	IG_V_gene	OTTHUMT00000320328.1	C	NG_000002		20846859	+1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390284	ensembl	human	known	54_36p	missense	SNP	0.002	G
SNHG14	104472715	genome.wustl.edu	37	15	25453300	25453300	+	RNA	SNP	C	C	T	rs574273914		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:25453300C>T	ENST00000424208.1	+	0	2384				SNORD115-21_ENST00000362963.1_RNA|SNHG14_ENST00000424333.1_RNA|SNHG14_ENST00000450809.1_RNA|SNORD115-22_ENST00000364456.1_RNA|SNORD115-20_ENST00000365099.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		AATAGGATTACGCTGAGGCCC	0.527													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20068	0.0		0.0	False		,,,				2504	0.0															0			15											334.0	346.0	343.0					15																	25453300		876	1991	2867	23004393			0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25453300C>T			23004393		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			-	-		0.527	SNHG14-002	KNOWN	basic	antisense	SNORD115-21	processed_transcript	OTTHUMT00000126729.2	C			23004393	+1	no_errors	NR_003313	genbank	human	provisional	54_36p	rna	SNP	0.106	T
GPX6	257202	genome.wustl.edu	37	6	28472114	28472114	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:28472114G>A	ENST00000474923.1	-	4	564	c.521C>T	c.(520-522)tCa>tTa	p.S174L	GPX6_ENST00000483058.1_5'Flank|GPX6_ENST00000361902.1_Silent_p.V207V			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress (GO:0006979)	extracellular region (GO:0005576)	glutathione peroxidase activity (GO:0004602)			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	TGTCTGACTTGACTGTGCTGA	0.512																																																0			6											151.0	144.0	146.0					6																	28472114		2044	4230	6274	28580093	SO:0001583	missense	257202				CCDS43432.1	6p22.1	2012-03-01			ENSG00000198704	ENSG00000198704	1.11.1.9		4558	protein-coding gene	gene with protein product		607913	"""glutathione peroxidase pseudogene 3"""	GPXP3			Standard	NM_182701		Approved		uc021yrx.1	P59796	OTTHUMG00000044828	ENST00000474923.1:c.521C>T	6.37:g.28472114G>A	ENSP00000417364:p.Ser174Leu		28580093	Q4PJ17	Silent	SNP	superfamily_Thioredoxin-like,HMMPfam_GSHPx,PatternScan_GLUTATHIONE_PEROXID_2	p.V207	ENST00000474923.1	37	c.621		6	.	.	.	.	.	.	.	.	.	.	G	9.528	1.110005	0.20714	.	.	ENSG00000198704	ENST00000474923	T	0.12984	2.63	4.4	0.52	0.17040	.	.	.	.	.	T	0.11495	0.0280	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.05162	-1.0902	6	0.49607	T	0.09	.	10.1257	0.42648	0.0861:0.6032:0.3106:0.0	.	.	.	.	L	174	ENSP00000417364:S174L	ENSP00000417364:S174L	S	-	2	0	GPX6	28580093	0.973000	0.33851	0.106000	0.21319	0.009000	0.06853	0.285000	0.18883	0.063000	0.16370	-0.150000	0.13652	TCA	-	superfamily_Thioredoxin-like		0.512	GPX6-002	PUTATIVE	basic|exp_conf|seleno	protein_coding	GPX6	protein_coding	OTTHUMT00000356246.5	G			28580093	-1	pseudogene	NM_182701	genbank	human	reviewed	54_36p	silent	SNP	0.884	A
TMEM132E	124842	genome.wustl.edu	37	17	32964657	32964657	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:32964657C>T	ENST00000321639.5	+	10	2689	c.2361C>T	c.(2359-2361)ttC>ttT	p.F787F		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	787						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCACCGGCTTCCTGCAGGTGC	0.687																																																0			17											42.0	44.0	43.0					17																	32964657		2203	4300	6503	29988770	SO:0001819	synonymous_variant	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2361C>T	17.37:g.32964657C>T			29988770	Q8WUF4|Q8WVA5	Silent	SNP	NULL	p.F787	ENST00000321639.5	37	c.2361	CCDS11283.1	17																																																																																			-	NULL		0.687	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	protein_coding	OTTHUMT00000256440.2	C	NM_207313		29988770	+1	no_errors	NM_207313	genbank	human	provisional	54_36p	silent	SNP	0.999	T
HCK	3055	genome.wustl.edu	37	20	30689240	30689240	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr20:30689240A>T	ENST00000520553.1	+	13	1682	c.1436A>T	c.(1435-1437)gAg>gTg	p.E479V	HCK_ENST00000538448.1_Missense_Mutation_p.E479V|HCK_ENST00000375862.2_Missense_Mutation_p.E499V|HCK_ENST00000375852.2_Missense_Mutation_p.E500V|HCK_ENST00000518730.1_Missense_Mutation_p.E478V|HCK_ENST00000534862.1_Missense_Mutation_p.E480V	NM_001172129.1|NM_001172130.1|NM_001172131.1|NM_002110.3	NP_001165600.1|NP_001165601.1|NP_001165602.1|NP_002101.2	P08631	HCK_HUMAN	HCK proto-oncogene, Src family tyrosine kinase	500	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|innate immune response-activating signal transduction (GO:0002758)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte degranulation (GO:0043299)|leukocyte migration involved in immune response (GO:0002522)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mesoderm development (GO:0007498)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of defense response to virus by virus (GO:0050690)|regulation of inflammatory response (GO:0050727)|regulation of phagocytosis (GO:0050764)|regulation of podosome assembly (GO:0071801)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|respiratory burst after phagocytosis (GO:0045728)|viral process (GO:0016032)	caveola (GO:0005901)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)		Bosutinib(DB06616)	CGTCCGGAGGAGCGGCCGACC	0.582																																																0			20											57.0	48.0	52.0					20																	30689240		2203	4300	6503	30152901	SO:0001583	missense	3055			AK026432	CCDS33460.1, CCDS54453.1, CCDS54455.1, CCDS54456.1	20q11-q12	2014-06-25	2014-06-25		ENSG00000101336	ENSG00000101336		"""SH2 domain containing"""	4840	protein-coding gene	gene with protein product		142370	"""hemopoietic cell kinase"""			3496523	Standard	NM_002110		Approved	JTK9	uc002wxh.3	P08631	OTTHUMG00000032204	ENST00000520553.1:c.1436A>T	20.37:g.30689240A>T	ENSP00000429848:p.Glu479Val		30152901	A8K1I1|B4DQB6|E1P5M2|Q29RX1|Q2VPE2|Q504R5|Q5T7K1|Q5T7K2|Q96CC0|Q9H5Y5|Q9NUA4|Q9UMJ5	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_SH2 domain,HMMSmart_SM00252,HMMPfam_SH2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.E500V	ENST00000520553.1	37	c.1499	CCDS54455.1	20	.	.	.	.	.	.	.	.	.	.	A	23.4	4.416769	0.83449	.	.	ENSG00000101336	ENST00000534862;ENST00000538448;ENST00000375862;ENST00000520553;ENST00000518730;ENST00000375852	D;D;D;D;D;D	0.83673	-1.75;-1.75;-1.75;-1.75;-1.75;-1.75	4.9	4.9	0.64082	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.186637	0.44285	D	0.000479	D	0.84202	0.5420	M	0.67700	2.07	0.41127	D	0.985856	P;P	0.41265	0.566;0.744	B;P	0.44673	0.426;0.457	D	0.86749	0.1959	10	0.87932	D	0	.	13.8659	0.63588	1.0:0.0:0.0:0.0	.	478;500	P08631-3;P08631	.;HCK_HUMAN	V	480;479;499;479;478;500	ENSP00000444986:E480V;ENSP00000441169:E479V;ENSP00000365022:E499V;ENSP00000429848:E479V;ENSP00000427757:E478V;ENSP00000365012:E500V	ENSP00000365012:E500V	E	+	2	0	HCK	30152901	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.236000	0.78154	2.070000	0.61991	0.459000	0.35465	GAG	-	superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220		0.582	HCK-006	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	HCK	protein_coding	OTTHUMT00000375751.1	A			30152901	+1	no_errors	NM_002110	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
PIGO	84720	genome.wustl.edu	37	9	35092719	35092719	+	Nonsense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:35092719G>A	ENST00000378617.3	-	7	1559	c.1165C>T	c.(1165-1167)Caa>Taa	p.Q389*	PIGO_ENST00000298004.5_Nonsense_Mutation_p.Q389*|PIGO_ENST00000341666.3_Nonsense_Mutation_p.Q389*|PIGO_ENST00000492770.1_5'Flank|PIGO_ENST00000361778.2_Nonsense_Mutation_p.Q389*	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	389					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|GPI anchor biosynthetic process (GO:0006506)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity (GO:0016740)			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TCCTTAGCTTGAAGGTCCTGA	0.552																																																0			9											51.0	58.0	55.0					9																	35092719		2167	4205	6372	35082719	SO:0001587	stop_gained	84720			AB083625	CCDS6575.1, CCDS6576.1	9p13.2	2013-02-26	2006-06-28		ENSG00000165282	ENSG00000165282		"""Phosphatidylinositol glycan anchor biosynthesis"""	23215	protein-coding gene	gene with protein product		614730	"""phosphatidylinositol glycan, class O"""			10781593	Standard	NM_032634		Approved	DKFZp434M222, FLJ00135	uc003zwd.3	Q8TEQ8	OTTHUMG00000019854	ENST00000378617.3:c.1165C>T	9.37:g.35092719G>A	ENSP00000367880:p.Gln389*		35082719	B1AML3|Q6P154|Q6UX80|Q8TDS8|Q96CS9|Q9BVN9|Q9Y4B0	Nonsense_Mutation	SNP	superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest	p.Q389*	ENST00000378617.3	37	c.1165	CCDS6575.1	9	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574312	0.86542	.	.	ENSG00000165282	ENST00000298004;ENST00000378617;ENST00000341666;ENST00000361778	.	.	.	5.38	3.49	0.39957	.	0.422688	0.29846	N	0.011060	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-10.9474	12.3161	0.54958	0.0:0.1293:0.736:0.1347	.	.	.	.	X	389	.	ENSP00000298004:Q389X	Q	-	1	0	PIGO	35082719	1.000000	0.71417	0.680000	0.29994	0.898000	0.52572	5.565000	0.67365	0.802000	0.34089	-0.182000	0.12963	CAA	-	NULL		0.552	PIGO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIGO	protein_coding	OTTHUMT00000052284.1	G	NM_032634		35082719	-1	no_errors	NM_032634	genbank	human	reviewed	54_36p	nonsense	SNP	0.953	A
HLCS	3141	genome.wustl.edu	37	21	38309123	38309123	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr21:38309123C>G	ENST00000399120.1	-	5	1852	c.622G>C	c.(622-624)Gac>Cac	p.D208H	HLCS_ENST00000336648.4_Missense_Mutation_p.D208H	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	208					biotin metabolic process (GO:0006768)|cell proliferation (GO:0008283)|histone biotinylation (GO:0071110)|histone modification (GO:0016570)|protein biotinylation (GO:0009305)|response to biotin (GO:0070781)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin-[acetyl-CoA-carboxylase] ligase activity (GO:0004077)|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity (GO:0004078)|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity (GO:0004079)|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity (GO:0004080)|biotin-protein ligase activity (GO:0018271)|enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	GTCCACGGGTCTCTGAGAGCA	0.562																																																0			21											70.0	73.0	72.0					21																	38309123		2203	4300	6503	37230993	SO:0001583	missense	3141				CCDS13647.1	21q22.1	2012-07-13	2010-04-30		ENSG00000159267	ENSG00000159267	6.3.4.9, 6.3.4.10, 6.3.4.11, 6.3.4.15		4976	protein-coding gene	gene with protein product		609018	"""holocarboxylase synthetase (biotin-[proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)] ligase)"", ""holocarboxylase synthetase (biotin-(proprionyl-Coenzyme A-carboxylase (ATP-hydrolysing)) ligase)"""			7842009	Standard	NM_000411		Approved	HCS	uc021wjb.1	P50747	OTTHUMG00000086636	ENST00000399120.1:c.622G>C	21.37:g.38309123C>G	ENSP00000382071:p.Asp208His		37230993	B2RAH1|D3DSG6|Q99451	Missense_Mutation	SNP	superfamily_SSF55681,HMMPfam_BPL_LipA_LipB,HMMPfam_BPL_C	p.D208H	ENST00000399120.1	37	c.622	CCDS13647.1	21	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671728	0.47781	.	.	ENSG00000159267	ENST00000399120;ENST00000336648	D;D	0.98221	-4.8;-4.8	5.91	5.91	0.95273	.	0.197529	0.53938	D	0.000059	D	0.96849	0.8971	M	0.70595	2.14	0.58432	D	0.999993	P;P	0.41546	0.754;0.584	B;B	0.30646	0.118;0.116	D	0.96516	0.9382	10	0.39692	T	0.17	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	208;208	B2RAH1;P50747	.;BPL1_HUMAN	H	208	ENSP00000382071:D208H;ENSP00000338387:D208H	ENSP00000338387:D208H	D	-	1	0	HLCS	37230993	0.998000	0.40836	0.974000	0.42286	0.075000	0.17131	5.595000	0.67563	2.793000	0.96121	0.655000	0.94253	GAC	-	NULL		0.562	HLCS-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HLCS	protein_coding	OTTHUMT00000194687.2	C			37230993	-1	no_errors	NM_000411	genbank	human	validated	54_36p	missense	SNP	0.793	G
ADAM18	8749	genome.wustl.edu	37	8	39505872	39505872	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:39505872T>A	ENST00000265707.5	+	12	1101	c.1056T>A	c.(1054-1056)agT>agA	p.S352R	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.S328R	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	352	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			GGAGTGCCAGTGGTAGAAAGA	0.338																																																0			8											51.0	52.0	52.0					8																	39505872		2203	4300	6503	39625029	SO:0001583	missense	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.1056T>A	8.37:g.39505872T>A	ENSP00000265707:p.Ser352Arg		39625029	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,HMMPfam_EGF_2"	p.S352R	ENST00000265707.5	37	c.1056	CCDS6113.1	8	.	.	.	.	.	.	.	.	.	.	T	0.133	-1.111368	0.01813	.	.	ENSG00000168619	ENST00000265707;ENST00000379866;ENST00000522198	T;T	0.10099	2.91;2.91	5.4	3.03	0.35002	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.117180	0.39407	N	0.001363	T	0.09423	0.0232	L	0.42632	1.34	0.80722	D	1	B;B	0.17465	0.018;0.022	B;B	0.26614	0.042;0.071	T	0.23691	-1.0181	10	0.25751	T	0.34	.	6.5858	0.22620	0.1395:0.08:0.0:0.7805	.	328;352	Q9Y3Q7-2;Q9Y3Q7	.;ADA18_HUMAN	R	352;328;284	ENSP00000265707:S352R;ENSP00000369195:S328R	ENSP00000265707:S352R	S	+	3	2	ADAM18	39625029	1.000000	0.71417	0.996000	0.52242	0.022000	0.10575	0.828000	0.27435	0.145000	0.18977	-3.049000	0.00069	AGT	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin"		0.338	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	protein_coding	OTTHUMT00000376916.1	T	NM_014237		39625029	+1	no_errors	NM_014237	genbank	human	reviewed	54_36p	missense	SNP	0.994	A
TGM7	116179	genome.wustl.edu	37	15	43571977	43571977	+	Silent	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:43571977C>A	ENST00000452443.2	-	10	1528	c.1524G>T	c.(1522-1524)ctG>ctT	p.L508L		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	508					peptide cross-linking (GO:0018149)		metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TACGCAGCAGCAGCTGCAGGT	0.657																																																0			15											38.0	44.0	42.0					15																	43571977		2201	4297	6498	41359269	SO:0001819	synonymous_variant	116179			AF363393	CCDS32213.1	15q15.2	2004-07-01				ENSG00000159495		"""Transglutaminases"""	30790	protein-coding gene	gene with protein product	"""transglutaminase Z"""	606776				11390390	Standard	NM_052955		Approved	TGMZ	uc001zrf.1	Q96PF1		ENST00000452443.2:c.1524G>T	15.37:g.43571977C>A			41359269		Silent	SNP	superfamily_Ig_E-set,HMMPfam_Transglut_N,superfamily_SSF54001,HMMSmart_TGc,HMMPfam_Transglut_core,PatternScan_TRANSGLUTAMINASES,superfamily_Transglut_C,HMMPfam_Transglut_C	p.L508	ENST00000452443.2	37	c.1524	CCDS32213.1	15																																																																																			-	superfamily_Transglut_C		0.657	TGM7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM7	protein_coding	OTTHUMT00000432489.1	C	NM_052955		41359269	-1	no_errors	NM_052955	genbank	human	validated	54_36p	silent	SNP	0.030	A
TTLL12	23170	genome.wustl.edu	37	22	43570280	43570280	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr22:43570280G>A	ENST00000216129.6	-	8	1227	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	TTLL12_ENST00000484118.1_5'Flank|TTLL12_ENST00000494035.1_5'Flank	NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	388	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				TGAAGGTTCGGGGCAGCCAGG	0.647																																																0			22											66.0	72.0	70.0					22																	43570280		2203	4297	6500	41900224	SO:0001819	synonymous_variant	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.1164C>T	22.37:g.43570280G>A			41900224	Q20WK5|Q9UGU3	Silent	SNP	HMMPfam_TTL	p.P388	ENST00000216129.6	37	c.1164	CCDS14047.1	22																																																																																			-	HMMPfam_TTL		0.647	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	protein_coding	OTTHUMT00000319611.1	G	NM_015140		41900224	-1	no_errors	NM_015140	genbank	human	provisional	54_36p	silent	SNP	0.968	A
LRRC59	55379	genome.wustl.edu	37	17	48460424	48460424	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:48460424G>C	ENST00000225972.7	-	7	1084	c.849C>G	c.(847-849)atC>atG	p.I283M		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	283						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			CATTGTCATAGATGGTGTTCA	0.617																																																0			17											80.0	65.0	70.0					17																	48460424		2203	4300	6503	45815423	SO:0001583	missense	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.849C>G	17.37:g.48460424G>C	ENSP00000225972:p.Ile283Met		45815423	B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	superfamily_SSF52058,HMMPfam_LRR_1	p.I283M	ENST00000225972.7	37	c.849	CCDS11566.1	17	.	.	.	.	.	.	.	.	.	.	G	13.75	2.329708	0.41297	.	.	ENSG00000108829	ENST00000225972	T	0.44083	0.93	5.93	4.96	0.65561	.	0.582856	0.20278	N	0.095516	T	0.38585	0.1046	L	0.43152	1.355	0.80722	D	1	B	0.14438	0.01	B	0.15484	0.013	T	0.17107	-1.0380	10	0.52906	T	0.07	.	15.0539	0.71897	0.0:0.0:0.8581:0.1419	.	283	Q96AG4	LRC59_HUMAN	M	283	ENSP00000225972:I283M	ENSP00000225972:I283M	I	-	3	3	LRRC59	45815423	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	2.415000	0.44635	1.520000	0.48965	0.579000	0.79373	ATC	-	NULL		0.617	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC59	protein_coding	OTTHUMT00000367117.2	G	NM_018509		45815423	-1	no_errors	NM_018509	genbank	human	provisional	54_36p	missense	SNP	1.000	C
RNY4P30	100862673	genome.wustl.edu	37	13	50464827	50464827	+	RNA	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:50464827C>T	ENST00000410216.1	-	0	0									RNA, Ro-associated Y4 pseudogene 30																		AGACCAGATTCGAATCCTTAT	0.537																																																0			13																																								49362828			220429					13q14.2	2011-08-03			ENSG00000222148	ENSG00000222148			42498	pseudogene	RNA, pseudogene							Standard	NG_032103		Approved						13.37:g.50464827C>T			49362828		RNA	SNP	-	NULL	ENST00000410216.1	37	NULL		13																																																																																			-	-		0.537	RNY4P30-201	KNOWN	basic	misc_RNA	LOC220429	misc_RNA		C			49362828	+1	pseudogene	NR_003268	genbank	human	validated	54_36p	rna	SNP	0.905	T
VPRBP	9730	genome.wustl.edu	37	3	51458102	51458102	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:51458102G>A	ENST00000335891.5	-	7	984	c.975C>T	c.(973-975)atC>atT	p.I325I				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	774	Protein kinase-like.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		GTTTACTGATGATCTGCCGGA	0.552																																																0			3											75.0	73.0	74.0					3																	51458102		1998	4179	6177	51433142	SO:0001819	synonymous_variant	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.975C>T	3.37:g.51458102G>A			51433142	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Silent	SNP	superfamily_ARM repeat,HMMSmart_SM00667,HMMPfam_LisH,superfamily_WD40 repeat-like	p.I778	ENST00000335891.5	37	c.2334		3																																																																																			-	superfamily_ARM repeat		0.552	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	protein_coding		G	NM_014703		51433142	-1	no_errors	ENST00000273612	ensembl	human	known	54_36p	silent	SNP	1.000	A
ESPL1	9700	genome.wustl.edu	37	12	53676143	53676143	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr12:53676143G>A	ENST00000257934.4	+	14	2806	c.2715G>A	c.(2713-2715)ctG>ctA	p.L905L	ESPL1_ENST00000552462.1_Silent_p.L905L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	905					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCAGGTCCTGCAGCTGGTGG	0.582																																					Colon(53;1069 1201 2587 5382)											0			12											134.0	109.0	118.0					12																	53676143		2203	4300	6503	51962410	SO:0001819	synonymous_variant	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.2715G>A	12.37:g.53676143G>A			51962410		Silent	SNP	HMMPfam_Peptidase_C50	p.L905	ENST00000257934.4	37	c.2715	CCDS8852.1	12																																																																																			-	NULL		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	G	NM_012291		51962410	+1	no_errors	NM_012291	genbank	human	validated	54_36p	silent	SNP	1.000	A
ESPL1	9700	genome.wustl.edu	37	12	53681787	53681787	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr12:53681787A>G	ENST00000257934.4	+	19	4299	c.4208A>G	c.(4207-4209)gAc>gGc	p.D1403G	ESPL1_ENST00000552462.1_Missense_Mutation_p.D1403G	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1403					apoptotic process (GO:0006915)|cytokinesis (GO:0000910)|establishment of mitotic spindle localization (GO:0040001)|homologous chromosome segregation (GO:0045143)|meiotic spindle organization (GO:0000212)|mitotic cell cycle (GO:0000278)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	centrosome (GO:0005813)|cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GACTTGGAAGACCCTGTCTCA	0.582											OREG0021863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Colon(53;1069 1201 2587 5382)											0			12											48.0	49.0	49.0					12																	53681787		2196	4293	6489	51968054	SO:0001583	missense	9700			D79987	CCDS8852.1	12q13.13	2014-08-04	2013-05-03		ENSG00000135476	ENSG00000135476	3.4.22.49		16856	protein-coding gene	gene with protein product	"""separin"", ""separase"", ""separin, cysteine protease"""	604143	"""extra spindle poles like 1 (S. cerevisiae)"""			8724849, 16258266	Standard	NM_012291		Approved	KIAA0165, ESP1, SEPA	uc001sck.2	Q14674	OTTHUMG00000169674	ENST00000257934.4:c.4208A>G	12.37:g.53681787A>G	ENSP00000257934:p.Asp1403Gly	994	51968054		Missense_Mutation	SNP	HMMPfam_Peptidase_C50	p.D1403G	ENST00000257934.4	37	c.4208	CCDS8852.1	12	.	.	.	.	.	.	.	.	.	.	A	15.71	2.912671	0.52439	.	.	ENSG00000135476	ENST00000257934;ENST00000552671;ENST00000552462	T;T	0.11930	2.73;2.73	5.8	5.8	0.92144	.	0.429106	0.26935	N	0.021758	T	0.14917	0.0360	M	0.67953	2.075	0.38650	D	0.951822	P	0.44734	0.842	B	0.31946	0.138	T	0.07578	-1.0765	10	0.56958	D	0.05	.	13.6779	0.62465	1.0:0.0:0.0:0.0	.	1403	Q14674	ESPL1_HUMAN	G	1403;1078;1403	ENSP00000257934:D1403G;ENSP00000449831:D1403G	ENSP00000257934:D1403G	D	+	2	0	ESPL1	51968054	0.904000	0.30761	1.000000	0.80357	0.866000	0.49608	1.066000	0.30604	2.221000	0.72209	0.528000	0.53228	GAC	-	NULL		0.582	ESPL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPL1	protein_coding	OTTHUMT00000406899.2	A	NM_012291		51968054	+1	no_errors	NM_012291	genbank	human	validated	54_36p	missense	SNP	0.984	G
OR4D1	26689	genome.wustl.edu	37	17	56233322	56233322	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:56233322G>A	ENST00000268912.5	+	1	829	c.808G>A	c.(808-810)Gct>Act	p.A270T		NM_012374.1	NP_036506.1	Q15615	OR4D1_HUMAN	olfactory receptor, family 4, subfamily D, member 1	270					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(2)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13						CATGGACAAGGCTGTGTCCAT	0.507																																																0			17											89.0	86.0	87.0					17																	56233322		2203	4300	6503	53588321	SO:0001583	missense	26689			X89670	CCDS42365.1	17q22	2012-08-09			ENSG00000141194	ENSG00000141194		"""GPCR / Class A : Olfactory receptors"""	8293	protein-coding gene	gene with protein product				OR4D3		9119360	Standard	NM_012374		Approved	TPCR16	uc010wno.2	Q15615		ENST00000268912.5:c.808G>A	17.37:g.56233322G>A	ENSP00000365451:p.Ala270Thr		53588321	B2RN14|Q8NGB1|Q96R76	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.A270T	ENST00000268912.5	37	c.808	CCDS42365.1	17	.	.	.	.	.	.	.	.	.	.	g	14.48	2.549231	0.45383	.	.	ENSG00000141194	ENST00000268912	T	0.00145	8.67	5.63	3.66	0.41972	GPCR, rhodopsin-like superfamily (1);	0.096021	0.46145	N	0.000306	T	0.00144	0.0004	L	0.37697	1.125	0.33047	D	0.532209	B	0.21071	0.051	B	0.33799	0.17	T	0.25082	-1.0142	10	0.31617	T	0.26	-6.2966	10.0223	0.42051	0.1633:0.0:0.8367:0.0	.	270	Q15615	OR4D1_HUMAN	T	270	ENSP00000365451:A270T	ENSP00000365451:A270T	A	+	1	0	OR4D1	53588321	0.001000	0.12720	0.998000	0.56505	0.982000	0.71751	0.363000	0.20301	0.748000	0.32831	0.543000	0.68304	GCT	-	superfamily_SSF81321,HMMPfam_7tm_1		0.507	OR4D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D1	protein_coding	OTTHUMT00000443364.1	G			53588321	+1	no_errors	NM_012374	genbank	human	provisional	54_36p	missense	SNP	0.984	A
ZNF701	55762	genome.wustl.edu	37	19	53086335	53086335	+	Silent	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:53086335T>C	ENST00000540331.1	+	5	1446	c.1221T>C	c.(1219-1221)ctT>ctC	p.L407L	ZNF701_ENST00000301093.2_Silent_p.L407L|CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Silent_p.L341L	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	407					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AATCACACCTTGAAAGACATA	0.393																																					NSCLC(89;451 1475 9611 20673 52284)											0			19											88.0	90.0	89.0					19																	53086335		2203	4300	6503	57778147	SO:0001819	synonymous_variant	55762			AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.1221T>C	19.37:g.53086335T>C			57778147	A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,superfamily_Multiheme cytochromes,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.L341	ENST00000540331.1	37	c.1023	CCDS54311.1	19																																																																																			-	superfamily_Multiheme cytochromes,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.393	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF701	protein_coding	OTTHUMT00000463467.1	T	NM_018260		57778147	+1	no_errors	NM_018260	genbank	human	provisional	54_36p	silent	SNP	0.000	C
DNASE1L3	1776	genome.wustl.edu	37	3	58183604	58183604	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:58183604C>T	ENST00000394549.2	-	6	964	c.648G>A	c.(646-648)ctG>ctA	p.L216L	DNASE1L3_ENST00000483681.1_Silent_p.L216L|DNASE1L3_ENST00000318316.3_Silent_p.L216L|DNASE1L3_ENST00000486455.1_Silent_p.L186L	NM_004944.3	NP_004935.1	Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	216					apoptotic DNA fragmentation (GO:0006309)|developmental programmed cell death (GO:0010623)|DNA metabolic process (GO:0006259)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)|deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		GGTCCCCGATCAGCCAAACAA	0.557																																					Esophageal Squamous(96;1069 1424 4841 43466 52325)											0			3											141.0	124.0	130.0					3																	58183604		2203	4300	6503	58158644	SO:0001819	synonymous_variant	1776			AF047354	CCDS2886.1, CCDS58836.1	3p14.3	2008-05-15			ENSG00000163687	ENSG00000163687			2959	protein-coding gene	gene with protein product	"""DNase gamma"""	602244				9205125, 9714828, 14646506	Standard	NM_004944		Approved	DNAS1L3, LSD	uc003djo.2	Q13609	OTTHUMG00000159153	ENST00000394549.2:c.648G>A	3.37:g.58183604C>T			58158644	B2R8B1|B7Z707|O75803	Silent	SNP	HMMSmart_SM00476,HMMPfam_Exo_endo_phos,superfamily_DNase I-like,PatternScan_DNASE_I_1,PatternScan_DNASE_I_2	p.L216	ENST00000394549.2	37	c.648	CCDS2886.1	3																																																																																			-	HMMSmart_SM00476,HMMPfam_Exo_endo_phos,superfamily_DNase I-like		0.557	DNASE1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L3	protein_coding	OTTHUMT00000353533.1	C	NM_004944		58158644	-1	no_errors	NM_004944	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
MARCH10	162333	genome.wustl.edu	37	17	60837260	60837260	+	Silent	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:60837260C>T	ENST00000311269.5	-	4	592	c.318G>A	c.(316-318)caG>caA	p.Q106Q	MARCH10_ENST00000456609.2_Silent_p.Q106Q|MARCH10_ENST00000583600.1_Silent_p.Q106Q|MARCH10_ENST00000544856.2_Silent_p.Q106Q	NM_152598.2	NP_689811.2	Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	106					protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						TTTTATGTTTCTGCTTGACTG	0.433																																																0			17											258.0	201.0	220.0					17																	60837260		2203	4300	6503	58190992	SO:0001819	synonymous_variant	162333			AK093076	CCDS11635.1, CCDS74122.1, CCDS74123.1	17q23.3	2013-01-09	2012-02-23	2007-08-20		ENSG00000173838		"""RING-type (C3HC4) zinc fingers"", ""MARCH membrane-associated ring fingers"""	26655	protein-coding gene	gene with protein product		613337	"""ring finger protein 190"", ""membrane-associated ring finger (C3HC4) 10"""	RNF190		17604280	Standard	XM_005257103		Approved	FLJ35757, MARCH-X	uc002jag.4	Q8NA82		ENST00000311269.5:c.318G>A	17.37:g.60837260C>T			58190992	D3DU09|Q8IYS7|Q8N7Z7	Silent	SNP	superfamily_RING/U-box,HMMSmart_SM00744,HMMPfam_zf-C3HC4	p.Q106	ENST00000311269.5	37	c.318	CCDS11635.1	17																																																																																			-	NULL		0.433	MARCH10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MARCH10	protein_coding	OTTHUMT00000445252.1	C	NM_152598		58190992	-1	no_errors	NM_001100875	genbank	human	validated	54_36p	silent	SNP	1.000	T
ERN1	2081	genome.wustl.edu	37	17	62175922	62175922	+	Intron	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:62175922G>C	ENST00000433197.3	-	2	150					NM_001433.3	NP_001424.3			endoplasmic reticulum to nucleus signaling 1											central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CTTCTCTTGGGCCTATTCTAT	0.393																																																0			17											76.0	72.0	73.0					17																	62175922		876	1991	2867	59529654	SO:0001627	intron_variant	2081			AF059198	CCDS45762.1	17q23	2011-08-12	2007-08-14			ENSG00000178607			3449	protein-coding gene	gene with protein product	"""inositol-requiring enzyme 1"""	604033	"""ER to nucleus signalling 1"""			9637683	Standard	NM_001433		Approved	IRE1, IRE1P	uc002jdz.2	O75460		ENST00000433197.3:c.55-321C>G	17.37:g.62175922G>C			59529654		Missense_Mutation	SNP	superfamily_Quinoprotein alcohol dehydrogenase-like,HMMSmart_SM00564,HMMPfam_PQQ,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Ribonuc_2-5A,HMMSmart_SM00580	p.P1A	ENST00000433197.3	37	c.1	CCDS45762.1	17																																																																																			-	NULL		0.393	ERN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERN1	protein_coding	OTTHUMT00000443734.2	G	NM_001433		59529654	-1	no_start_codon	ENST00000225768	ensembl	human	known	54_36p	missense	SNP	0.000	C
TDRD3	81550	genome.wustl.edu	37	13	61041407	61041407	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:61041407C>T	ENST00000196169.3	+	5	898	c.110C>T	c.(109-111)tCa>tTa	p.S37L	TDRD3_ENST00000535286.1_Missense_Mutation_p.S130L|TDRD3_ENST00000377894.2_Missense_Mutation_p.S37L|TDRD3_ENST00000377881.2_Missense_Mutation_p.S37L	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	37					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		GTTAAGCTCTCAGGCATTGTT	0.413																																					Colon(36;164 906 35820 50723)											0			13											154.0	145.0	148.0					13																	61041407		2203	4300	6503	59939408	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.110C>T	13.37:g.61041407C>T	ENSP00000196169:p.Ser37Leu		59939408	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	superfamily_UBA-like,HMMPfam_UBA,HMMSmart_SM00165,superfamily_Tudor/PWWP/MBT,HMMSmart_SM00333,HMMPfam_TUDOR	p.S37L	ENST00000196169.3	37	c.110	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389500	0.25118	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.93189	-3.17;-3.17;-3.17;-3.18	5.56	4.72	0.59763	.	0.153654	0.44902	N	0.000404	D	0.82568	0.5065	N	0.10760	0.04	0.31177	N	0.702567	B;B;B	0.09022	0.001;0.002;0.0	B;B;B	0.08055	0.002;0.003;0.001	T	0.74293	-0.3712	10	0.12430	T	0.62	-5.6664	8.9024	0.35503	0.0:0.7771:0.0:0.2229	.	130;37;37	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	L	37;37;37;130;37	ENSP00000196169:S37L;ENSP00000367113:S37L;ENSP00000367126:S37L;ENSP00000440190:S130L	ENSP00000196169:S37L	S	+	2	0	TDRD3	59939408	0.998000	0.40836	0.624000	0.29186	0.997000	0.91878	3.642000	0.54367	1.346000	0.45694	0.655000	0.94253	TCA	-	NULL		0.413	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	protein_coding	OTTHUMT00000045175.2	C	NM_030794		59939408	+1	no_errors	NM_030794	genbank	human	validated	54_36p	missense	SNP	0.985	T
SIX4	51804	genome.wustl.edu	37	14	61190097	61190097	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr14:61190097C>G	ENST00000216513.4	-	1	755	c.696G>C	c.(694-696)gaG>gaC	p.E232D		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	232					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGCGCGACTTCTCCTTGAAAC	0.642																																																0			14											40.0	37.0	38.0					14																	61190097		2203	4300	6503	60259850	SO:0001583	missense	51804			AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.696G>C	14.37:g.61190097C>G	ENSP00000216513:p.Glu232Asp		60259850	Q4QQH5|Q4V764	Missense_Mutation	SNP	superfamily_Homeodomain_like,HMMSmart_HOX,HMMPfam_Homeobox,PatternScan_HOMEOBOX_1	p.E232D	ENST00000216513.4	37	c.696	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758273	0.69763	.	.	ENSG00000100625	ENST00000216513;ENST00000556952	D	0.96200	-3.94	3.63	3.63	0.41609	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.055265	0.64402	N	0.000001	D	0.94703	0.8291	L	0.41415	1.275	0.80722	D	1	P;B	0.43607	0.812;0.083	P;B	0.50617	0.646;0.414	D	0.95385	0.8476	10	0.72032	D	0.01	.	15.0803	0.72108	0.0:1.0:0.0:0.0	.	224;232	G3V2N2;Q9UIU6	.;SIX4_HUMAN	D	232;224	ENSP00000216513:E232D	ENSP00000216513:E232D	E	-	3	2	SIX4	60259850	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.713000	0.54882	1.849000	0.53698	0.650000	0.86243	GAG	-	superfamily_Homeodomain_like,HMMSmart_HOX		0.642	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	C			60259850	-1	no_errors	NM_017420	genbank	human	validated	54_36p	missense	SNP	1.000	G
LPHN3	23284	genome.wustl.edu	37	4	62599215	62599215	+	Missense_Mutation	SNP	A	A	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:62599215A>T	ENST00000514591.1	+	7	1467	c.1138A>T	c.(1138-1140)Aat>Tat	p.N380Y	LPHN3_ENST00000506746.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.N380Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.N448Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.N380Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.N380Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	380	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TTATGTATGGAATAACTATCA	0.398																																																0			4											67.0	60.0	62.0					4																	62599215		1856	4106	5962	62281810	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1138A>T	4.37:g.62599215A>T	ENSP00000422533:p.Asn380Tyr		62281810	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_OLF,HMMSmart_HormR,HMMPfam_HRM,superfamily_SSF81321,HMMPfam_GPS,HMMSmart_GPS,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin	p.N380Y	ENST00000514591.1	37	c.1138	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	A	17.61	3.431666	0.62844	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.91124	-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79;-2.79	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	D	0.96131	0.8739	M	0.91768	3.24	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;0.997	D;D;D	0.91635	0.999;0.999;0.994	D	0.96987	0.9719	10	0.87932	D	0	.	14.4261	0.67218	1.0:0.0:0.0:0.0	.	380;448;380	E9PE04;E7EN28;Q9HAR2-2	.;.;.	Y	380;380;448;448;380;380;380;380;380;448;448;448;380;380;380;448;448;380	ENSP00000423388:N380Y;ENSP00000422533:N380Y;ENSP00000423787:N448Y;ENSP00000425033:N448Y;ENSP00000424120:N380Y;ENSP00000439831:N380Y;ENSP00000421476:N448Y;ENSP00000424030:N448Y;ENSP00000421372:N448Y;ENSP00000425201:N380Y;ENSP00000423434:N380Y;ENSP00000421627:N380Y;ENSP00000420931:N448Y;ENSP00000425884:N448Y;ENSP00000424258:N380Y	ENSP00000280009:N380Y	N	+	1	0	LPHN3	62281810	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.962000	0.93254	1.999000	0.58509	0.455000	0.32223	AAT	-	HMMPfam_OLF,HMMSmart_OLF		0.398	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	protein_coding	OTTHUMT00000361765.1	A			62281810	+1	no_errors	NM_015236	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CATSPER1	117144	genome.wustl.edu	37	11	65793553	65793553	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr11:65793553G>T	ENST00000312106.5	-	1	435	c.298C>A	c.(298-300)Ccc>Acc	p.P100T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	100	His-rich.				calcium ion import (GO:0070509)|cell differentiation (GO:0030154)|fusion of sperm to egg plasma membrane (GO:0007342)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|regulation of calcium ion transport (GO:0051924)|regulation of cilium beat frequency involved in ciliary motility (GO:0060296)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCTTGAGAGGGAGCCAGACCA	0.612																																																0			11											142.0	128.0	132.0					11																	65793553		2201	4296	6497	65550129	SO:0001583	missense	117144			AF407333	CCDS8127.1	11q12.1	2011-07-05			ENSG00000175294	ENSG00000175294		"""Voltage-gated ion channels / Cation channels, sperm associated"""	17116	protein-coding gene	gene with protein product		606389				11675491, 11595941, 16382101	Standard	NM_053054		Approved	CATSPER	uc001ogt.3	Q8NEC5	OTTHUMG00000166668	ENST00000312106.5:c.298C>A	11.37:g.65793553G>T	ENSP00000309052:p.Pro100Thr		65550129	Q96P76	Missense_Mutation	SNP	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans	p.P100T	ENST00000312106.5	37	c.298	CCDS8127.1	11	.	.	.	.	.	.	.	.	.	.	G	14.21	2.466690	0.43839	.	.	ENSG00000175294	ENST00000312106	D	0.97710	-4.5	3.62	-2.98	0.05513	.	5.018390	0.00718	N	0.000872	D	0.97532	0.9192	M	0.64997	1.995	0.09310	N	1	D	0.69078	0.997	P	0.60789	0.879	D	0.90719	0.4633	10	0.72032	D	0.01	-0.211	2.9999	0.06010	0.0947:0.1366:0.3503:0.4184	.	100	Q8NEC5	CTSR1_HUMAN	T	100	ENSP00000309052:P100T	ENSP00000309052:P100T	P	-	1	0	CATSPER1	65550129	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.534000	0.06150	-0.783000	0.04534	-1.083000	0.02208	CCC	-	NULL		0.612	CATSPER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPER1	protein_coding	OTTHUMT00000391055.1	G	NM_053054		65550129	-1	no_errors	NM_053054	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
CYP7B1	9420	genome.wustl.edu	37	8	65517322	65517322	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:65517322C>T	ENST00000310193.3	-	5	1323	c.1150G>A	c.(1150-1152)Gac>Aac	p.D384N	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	384					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				ACACAGTAGTCCCCGGTCTCT	0.458																																																0			8											131.0	125.0	127.0					8																	65517322		2203	4300	6503	65679876	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.1150G>A	8.37:g.65517322C>T	ENSP00000310721:p.Asp384Asn		65679876	B2RN07|Q9UNF5	Missense_Mutation	SNP	superfamily_Cytochrome P450,HMMPfam_p450	p.D384N	ENST00000310193.3	37	c.1150	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	C	11.27	1.589411	0.28357	.	.	ENSG00000172817	ENST00000310193	D	0.85339	-1.97	6.17	1.28	0.21552	.	0.857205	0.11054	N	0.604665	T	0.79358	0.4432	L	0.45698	1.435	0.09310	N	1	B	0.17038	0.02	B	0.21151	0.033	T	0.62576	-0.6825	10	0.28530	T	0.3	-0.2078	9.7392	0.40406	0.0:0.6142:0.0:0.3858	.	384	O75881	CP7B1_HUMAN	N	384	ENSP00000310721:D384N	ENSP00000310721:D384N	D	-	1	0	CYP7B1	65679876	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	0.551000	0.23361	-0.041000	0.13558	0.655000	0.94253	GAC	-	superfamily_Cytochrome P450,HMMPfam_p450		0.458	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	protein_coding	OTTHUMT00000378550.1	C			65679876	-1	no_errors	NM_004820	genbank	human	reviewed	54_36p	missense	SNP	0.002	T
NETO1	81832	genome.wustl.edu	37	18	70417787	70417787	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr18:70417787A>C	ENST00000327305.6	-	9	1708	c.1051T>G	c.(1051-1053)Tgc>Ggc	p.C351G	RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.C351G|NETO1_ENST00000299430.2_Missense_Mutation_p.C350G	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	351					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATCACGATGCAGGAAGTCACG	0.453																																																0			18											85.0	65.0	72.0					18																	70417787		2203	4299	6502	68568767	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1051T>G	18.37:g.70417787A>C	ENSP00000313088:p.Cys351Gly		68568767	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042,superfamily_LDL receptor-like module,HMMSmart_SM00192,PatternScan_LDLRA_1	p.C351G	ENST00000327305.6	37	c.1051	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	A	4.663	0.123302	0.08931	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.21734	1.99;2.0	5.17	5.17	0.71159	.	0.000000	0.64402	D	0.000002	T	0.14013	0.0339	N	0.20401	0.57	0.80722	D	1	B;B	0.24576	0.106;0.001	B;B	0.30782	0.12;0.002	T	0.03095	-1.1073	10	0.02654	T	1	-19.0976	15.3049	0.73985	1.0:0.0:0.0:0.0	.	350;351	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	G	351;350	ENSP00000313088:C351G;ENSP00000299430:C350G	ENSP00000299430:C350G	C	-	1	0	NETO1	68568767	1.000000	0.71417	1.000000	0.80357	0.864000	0.49448	4.972000	0.63756	2.069000	0.61940	0.374000	0.22700	TGC	-	NULL		0.453	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	protein_coding	OTTHUMT00000256301.2	A	NM_138999		68568767	-1	no_errors	NM_138966	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
CTH	1491	genome.wustl.edu	37	1	70899604	70899604	+	Missense_Mutation	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:70899604A>G	ENST00000370938.3	+	9	1115	c.971A>G	c.(970-972)cAt>cGt	p.H324R	CTH_ENST00000346806.2_Missense_Mutation_p.H280R|CTH_ENST00000411986.2_Missense_Mutation_p.H292R	NM_001902.5	NP_001893.2	Q96IQ7	VSIG2_HUMAN	cystathionine gamma-lyase	0						integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ACTCTTCAGCATGCTGAGATT	0.428																																																0			1											104.0	89.0	94.0					1																	70899604		2203	4300	6503	70672192	SO:0001583	missense	1491			BC015807	CCDS650.1, CCDS651.1, CCDS53333.1	1p31.1	2014-06-24	2014-06-24		ENSG00000116761	ENSG00000116761	4.4.1.1		2501	protein-coding gene	gene with protein product		607657	"""cystathionase (cystathionine gamma-lyase)"""			1339280	Standard	NM_001902		Approved		uc001dfd.3	P32929	OTTHUMG00000009352	ENST00000370938.3:c.971A>G	1.37:g.70899604A>G	ENSP00000359976:p.His324Arg		70672192	O95791|Q9NX42	Missense_Mutation	SNP	superfamily_PLP-dependent transferases,HMMPfam_Cys_Met_Meta_PP,PatternScan_CYS_MET_METAB_PP	p.H324R	ENST00000370938.3	37	c.971	CCDS650.1	1	.	.	.	.	.	.	.	.	.	.	A	14.18	2.459222	0.43634	.	.	ENSG00000116761	ENST00000411986;ENST00000370938;ENST00000346806	D;D;D	0.81739	-1.53;-1.53;-1.53	5.03	5.03	0.67393	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.161361	0.56097	D	0.000037	T	0.46580	0.1400	N	0.04636	-0.2	0.80722	D	1	B;B;P	0.40083	0.409;0.217;0.702	B;B;B	0.36030	0.216;0.138;0.178	T	0.57745	-0.7758	10	0.25106	T	0.35	-9.6744	14.7812	0.69769	1.0:0.0:0.0:0.0	.	292;280;324	E9PDV0;P32929-2;P32929	.;.;CGL_HUMAN	R	292;324;280	ENSP00000413407:H292R;ENSP00000359976:H324R;ENSP00000311554:H280R	ENSP00000311554:H280R	H	+	2	0	CTH	70672192	1.000000	0.71417	0.979000	0.43373	0.899000	0.52679	9.117000	0.94347	2.042000	0.60477	0.529000	0.55759	CAT	-	superfamily_PLP-dependent transferases,HMMPfam_Cys_Met_Meta_PP		0.428	CTH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTH	protein_coding	OTTHUMT00000025918.1	A	NM_001902		70672192	+1	no_errors	NM_001902	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
EXOC7	23265	genome.wustl.edu	37	17	74080162	74080162	+	Missense_Mutation	SNP	T	T	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:74080162T>A	ENST00000335146.7	-	19	2083	c.2030A>T	c.(2029-2031)gAc>gTc	p.D677V	EXOC7_ENST00000589210.1_Missense_Mutation_p.D626V|EXOC7_ENST00000332065.5_Missense_Mutation_p.D595V|EXOC7_ENST00000411744.2_Missense_Mutation_p.D618V|EXOC7_ENST00000591724.1_5'Flank|EXOC7_ENST00000467929.2_Missense_Mutation_p.D598V|EXOC7_ENST00000405575.4_Missense_Mutation_p.D635V|EXOC7_ENST00000607838.1_Missense_Mutation_p.D649V			Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	677					cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)				NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			CTGCTCTGTGTCTGGAATAGC	0.547																																																0			17											57.0	51.0	53.0					17																	74080162		2203	4299	6502	71591757	SO:0001583	missense	23265			BC029432	CCDS11741.1, CCDS32738.1, CCDS45781.1, CCDS45782.1, CCDS45784.1, CCDS74164.1	17q25.3	2013-01-22			ENSG00000182473	ENSG00000182473			23214	protein-coding gene	gene with protein product		608163				12477932	Standard	NM_001013839		Approved	EXO70, KIAA1067, YJL085W, Exo70p	uc010wsw.2	Q9UPT5	OTTHUMG00000150720	ENST00000335146.7:c.2030A>T	17.37:g.74080162T>A	ENSP00000334100:p.Asp677Val		71591757	B5MC69|B8XXP2|Q8ND93|Q8WV91|Q96FF0|Q9H8C3|Q9H9X3|Q9HA32	Missense_Mutation	SNP	HMMPfam_Exo70	p.D626V	ENST00000335146.7	37	c.1877	CCDS45782.1	17	.	.	.	.	.	.	.	.	.	.	t	20.8	4.044332	0.75732	.	.	ENSG00000182473	ENST00000332065;ENST00000351709;ENST00000405575;ENST00000335146;ENST00000357231;ENST00000425372;ENST00000411744	.	.	.	5.28	5.28	0.74379	Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.80059	0.4554	M	0.80982	2.52	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.999;0.998;1.0;1.0;0.996;0.999	T	0.83308	-0.0024	9	0.87932	D	0	-29.9025	15.2203	0.73306	0.0:0.0:0.0:1.0	.	618;649;598;563;677;595;626	Q9UPT5-5;Q9UPT5-6;B4DJ07;F5H1P1;Q9UPT5;Q9UPT5-2;Q9UPT5-1	.;.;.;.;EXOC7_HUMAN;.;.	V	595;515;649;677;626;563;618	.	ENSP00000333806:D595V	D	-	2	0	EXOC7	71591757	1.000000	0.71417	0.895000	0.35142	0.722000	0.41435	7.843000	0.86859	2.000000	0.58554	0.449000	0.29647	GAC	-	HMMPfam_Exo70		0.547	EXOC7-006	KNOWN	basic|CCDS	protein_coding	EXOC7	protein_coding	OTTHUMT00000319768.2	T	NM_015219		71591757	-1	no_errors	NM_001013839	genbank	human	validated	54_36p	missense	SNP	1.000	A
DYSF	8291	genome.wustl.edu	37	2	71742846	71742846	+	Missense_Mutation	SNP	C	C	T	rs149827237		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:71742846C>T	ENST00000258104.3	+	7	1034	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	DYSF_ENST00000409762.1_Missense_Mutation_p.R284W|DYSF_ENST00000409744.1_Missense_Mutation_p.R254W|DYSF_ENST00000413539.2_Missense_Mutation_p.R284W|DYSF_ENST00000410020.3_Missense_Mutation_p.R285W|DYSF_ENST00000429174.2_Missense_Mutation_p.R253W|DYSF_ENST00000409651.1_Missense_Mutation_p.R285W|DYSF_ENST00000410041.1_Missense_Mutation_p.R285W|DYSF_ENST00000409582.3_Missense_Mutation_p.R284W|DYSF_ENST00000409366.1_Missense_Mutation_p.R254W|DYSF_ENST00000394120.2_Missense_Mutation_p.R254W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	253	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.		R -> W (in isolated hyperCKemia). {ECO:0000269|PubMed:16010686, ECO:0000269|PubMed:18853459}.		plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAAGCGGACGCGGATCCACAA	0.607													C|||	1	0.000199681	0.0	0.0	5008	,	,		16595	0.0		0.001	False		,,,				2504	0.0															0			2	GRCh37	CM053209	DYSF	M	rs149827237	C	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	98.0	93.0	95.0		760,757,757,757,850,850,850,853,760,760,853,760,853,757	4.0	1.0	2	dbSNP_134	95	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense,missense	DYSF	NM_001130455.1,NM_001130976.1,NM_001130977.1,NM_001130978.1,NM_001130979.1,NM_001130980.1,NM_001130981.1,NM_001130982.1,NM_001130983.1,NM_001130984.1,NM_001130985.1,NM_001130986.1,NM_001130987.1,NM_003494.3	101,101,101,101,101,101,101,101,101,101,101,101,101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	254/2082,253/2067,253/2088,253/2102,284/2112,284/2098,284/2119,285/2113,254/2103,254/2089,285/2099,254/2068,285/2120,253/2081	71742846	1,13005	2203	4300	6503	71596354	SO:0001583	missense	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.757C>T	2.37:g.71742846C>T	ENSP00000258104:p.Arg253Trp		71596354	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Missense_Mutation	SNP	HMMSmart_SM00239,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMPfam_C2,HMMPfam_FerI,HMMPfam_FerA,HMMPfam_FerB,HMMSmart_SM00693,HMMSmart_SM00694	p.R253W	ENST00000258104.3	37	c.757	CCDS1918.1	2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435372	0.62955	0.0	1.16E-4	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	T;T;T;T;T;T;T;T;T;T;T	0.72505	-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66;-0.66	5.0	3.99	0.46301	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86222	0.5881	M	0.92169	3.28	0.46542	D	0.99909	D;D;D;D;D;D;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;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;0.999;0.999;1.0;1.0;1.0	D	0.88691	0.3209	10	0.87932	D	0	-28.3	11.9299	0.52841	0.2107:0.7892:0.0:0.0	.	285;285;254;254;285;254;284;253;284;284;253;253;254;253	O75923-8;O75923-13;O75923-10;O75923-9;O75923-11;O75923-12;O75923-5;O75923-6;O75923-2;O75923-7;O75923-4;O75923-3;O75923-14;O75923	.;.;.;.;.;.;.;.;.;.;.;.;.;DYSF_HUMAN	W	284;284;284;253;253;285;254;254;254;285;285	ENSP00000407046:R284W;ENSP00000387137:R284W;ENSP00000386547:R284W;ENSP00000398305:R253W;ENSP00000258104:R253W;ENSP00000386683:R285W;ENSP00000377678:R254W;ENSP00000386285:R254W;ENSP00000386512:R254W;ENSP00000386881:R285W;ENSP00000386617:R285W	ENSP00000258104:R253W	R	+	1	2	DYSF	71596354	0.602000	0.26916	0.959000	0.39883	0.372000	0.29890	1.203000	0.32284	2.475000	0.83589	0.549000	0.68633	CGG	-	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2		0.607	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	protein_coding	OTTHUMT00000251970.3	C	NM_003494		71596354	+1	no_errors	NM_003494	genbank	human	reviewed	54_36p	missense	SNP	0.994	T
MAMDC2	256691	genome.wustl.edu	37	9	72785416	72785416	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:72785416G>C	ENST00000377182.4	+	11	2137	c.1520G>C	c.(1519-1521)gGa>gCa	p.G507A	MAMDC2-AS1_ENST00000535188.1_RNA|MAMDC2-AS1_ENST00000448377.3_RNA|MAMDC2-AS1_ENST00000420573.1_RNA|MAMDC2_ENST00000460688.1_3'UTR|MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000377178.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	507	MAM 4. {ECO:0000255|PROSITE- ProRule:PRU00128}.				peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)	endoplasmic reticulum (GO:0005783)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	glycosaminoglycan binding (GO:0005539)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCTCCACCTGGAGAGTGTACT	0.473																																																0			9											80.0	79.0	80.0					9																	72785416		2203	4300	6503	71975236	SO:0001583	missense	256691			BC040299	CCDS6631.1	9q21.2	2008-02-05			ENSG00000165072	ENSG00000165072			23673	protein-coding gene	gene with protein product		612879					Standard	NM_153267		Approved	MGC21981	uc004ahm.2	Q7Z304	OTTHUMG00000019990	ENST00000377182.4:c.1520G>C	9.37:g.72785416G>C	ENSP00000366387:p.Gly507Ala		71975236	Q5VW47|Q8WX43|Q96BM4	Missense_Mutation	SNP	HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1	p.G507A	ENST00000377182.4	37	c.1520	CCDS6631.1	9	.	.	.	.	.	.	.	.	.	.	G	20.6	4.019796	0.75275	.	.	ENSG00000165072	ENST00000377182	T	0.01998	4.51	5.47	5.47	0.80525	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	M	0.69523	2.12	0.80722	D	1	D	0.53462	0.96	P	0.56474	0.799	T	0.47222	-0.9134	10	0.11794	T	0.64	-23.0172	19.6788	0.95950	0.0:0.0:1.0:0.0	.	507	Q7Z304	MAMC2_HUMAN	A	507	ENSP00000366387:G507A	ENSP00000366387:G507A	G	+	2	0	MAMDC2	71975236	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.889000	0.87307	2.720000	0.93068	0.491000	0.48974	GGA	-	HMMSmart_SM00137		0.473	MAMDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAMDC2	protein_coding	OTTHUMT00000052600.1	G	NM_153267		71975236	+1	no_errors	NM_153267	genbank	human	validated	54_36p	missense	SNP	1.000	C
XIST	7503	genome.wustl.edu	37	X	73070853	73070853	+	lincRNA	SNP	G	G	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chrX:73070853G>T	ENST00000429829.1	-	0	1735					NR_001564.2				X inactive specific transcript (non-protein coding)																		CAGCTGCGAAGTGCCATGCTA	0.507																																																0			X											78.0	71.0	73.0					X																	73070853		876	1991	2867	72987578			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73070853G>T			72987578		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			-	-		0.507	XIST-001	KNOWN	basic	lincRNA	XIST	lincRNA	OTTHUMT00000057239.1	G	NR_001564		72987578	-1	no_errors	NR_001564	genbank	human	reviewed	54_36p	rna	SNP	0.000	T
C15orf39	56905	genome.wustl.edu	37	15	75499119	75499119	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:75499119G>C	ENST00000360639.2	+	2	1050	c.730G>C	c.(730-732)Gag>Cag	p.E244Q	C15orf39_ENST00000394987.4_Missense_Mutation_p.E244Q|C15orf39_ENST00000567617.1_Missense_Mutation_p.E244Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	244						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAATGTCTGAGGGGCCCTC	0.637																																																0			15											45.0	49.0	47.0					15																	75499119		2197	4295	6492	73286172	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.730G>C	15.37:g.75499119G>C	ENSP00000353854:p.Glu244Gln		73286172	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.E244Q	ENST00000360639.2	37	c.730	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	G	8.314	0.822854	0.16678	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.67171	-0.25;-0.25	4.23	3.32	0.38043	.	0.426572	0.22515	N	0.059049	T	0.64394	0.2594	L	0.60455	1.87	0.27481	N	0.952564	D	0.53619	0.961	P	0.47915	0.561	T	0.57130	-0.7864	10	0.33141	T	0.24	-20.4395	9.1364	0.36877	0.1036:0.0:0.8964:0.0	.	244	Q6ZRI6	CO039_HUMAN	Q	244	ENSP00000353854:E244Q;ENSP00000378438:E244Q	ENSP00000353854:E244Q	E	+	1	0	C15orf39	73286172	0.978000	0.34361	0.675000	0.29917	0.146000	0.21551	2.879000	0.48522	1.015000	0.39444	-0.379000	0.06801	GAG	-	NULL		0.637	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	protein_coding	OTTHUMT00000286410.1	G	NM_015492		73286172	+1	no_errors	NM_015492	genbank	human	validated	54_36p	missense	SNP	0.043	C
C15orf39	56905	genome.wustl.edu	37	15	75499703	75499703	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:75499703G>C	ENST00000360639.2	+	2	1634	c.1314G>C	c.(1312-1314)gaG>gaC	p.E438D	C15orf39_ENST00000394987.4_Missense_Mutation_p.E438D|C15orf39_ENST00000567617.1_Missense_Mutation_p.E438D			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	438						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AAGCCGAAGAGAAGACCTGGC	0.642																																																0			15											33.0	38.0	36.0					15																	75499703		2197	4295	6492	73286756	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1314G>C	15.37:g.75499703G>C	ENSP00000353854:p.Glu438Asp		73286756	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.E438D	ENST00000360639.2	37	c.1314	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	G	11.94	1.788170	0.31593	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.69685	-0.42;-0.42	4.89	0.132	0.14762	.	0.363277	0.24458	N	0.038360	T	0.53367	0.1792	M	0.62723	1.935	0.09310	N	1	B	0.27229	0.172	B	0.20955	0.032	T	0.44360	-0.9333	10	0.44086	T	0.13	-21.031	3.4128	0.07365	0.0948:0.31:0.4367:0.1585	.	438	Q6ZRI6	CO039_HUMAN	D	438	ENSP00000353854:E438D;ENSP00000378438:E438D	ENSP00000353854:E438D	E	+	3	2	C15orf39	73286756	0.836000	0.29430	0.553000	0.28255	0.698000	0.40448	0.884000	0.28214	0.465000	0.27167	0.462000	0.41574	GAG	-	NULL		0.642	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	protein_coding	OTTHUMT00000286410.1	G	NM_015492		73286756	+1	no_errors	NM_015492	genbank	human	validated	54_36p	missense	SNP	0.519	C
COX18	285521	genome.wustl.edu	37	4	73930590	73930590	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:73930590T>C	ENST00000295890.4	-	4	716	c.625A>G	c.(625-627)Act>Gct	p.T209A	COX18_ENST00000507544.2_Missense_Mutation_p.T210A	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	209					protein insertion into mitochondrial membrane (GO:0051204)|protein transport (GO:0015031)|respiratory chain complex IV assembly (GO:0008535)	integral component of mitochondrial inner membrane (GO:0031305)	protein transporter activity (GO:0008565)			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTCCACCAGTAGCTAACTGT	0.373																																																0			4											75.0	74.0	75.0					4																	73930590		2203	4300	6503	74149454	SO:0001583	missense	285521			AY957564	CCDS3554.1, CCDS75139.1	4q13.3	2013-06-12	2013-06-12		ENSG00000163626	ENSG00000163626		"""Mitochondrial respiratory chain complex assembly factors"""	26801	protein-coding gene	gene with protein product		610428	"""COX18 cytochrome c oxidase assembly homolog (S. cerevisiae)"", ""cytochrome c oxidase assembly homolog 18 (yeast)"""			16212937, 16911509	Standard	XM_005265679		Approved	FLJ38991	uc003hgm.1	Q8N8Q8	OTTHUMG00000129917	ENST00000295890.4:c.625A>G	4.37:g.73930590T>C	ENSP00000295890:p.Thr209Ala		74149454	Q2PB66|Q2PB67|Q2PB68|Q49B97|Q6IPP9	Missense_Mutation	SNP	HMMPfam_60KD_IMP	p.T209A	ENST00000295890.4	37	c.625	CCDS3554.1	4	.	.	.	.	.	.	.	.	.	.	T	3.077	-0.189923	0.06299	.	.	ENSG00000163626	ENST00000295890;ENST00000507544	.	.	.	5.45	-7.4	0.01397	.	0.922886	0.09503	N	0.793371	T	0.25457	0.0619	L	0.43646	1.37	0.09310	N	0.999996	B;B	0.13145	0.003;0.007	B;B	0.24006	0.05;0.033	T	0.31336	-0.9947	9	0.14252	T	0.57	-0.2537	5.4104	0.16344	0.3237:0.3771:0.0:0.2992	.	210;209	B7ZL88;Q8N8Q8	.;COX18_HUMAN	A	209;210	.	ENSP00000295890:T209A	T	-	1	0	COX18	74149454	0.008000	0.16893	0.053000	0.19242	0.037000	0.13140	-0.215000	0.09279	-1.530000	0.01751	-1.237000	0.01550	ACT	-	HMMPfam_60KD_IMP		0.373	COX18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COX18	protein_coding	OTTHUMT00000252169.2	T	NM_173827		74149454	-1	no_errors	NM_173827	genbank	human	validated	54_36p	missense	SNP	0.631	C
USP36	57602	genome.wustl.edu	37	17	76817092	76817092	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:76817092T>C	ENST00000542802.3	-	8	1252	c.809A>G	c.(808-810)gAc>gGc	p.D270G	USP36_ENST00000449938.2_5'UTR|USP36_ENST00000312010.6_Missense_Mutation_p.D270G|USP36_ENST00000588467.1_5'Flank			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36	270	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|ubiquitin-specific protease activity (GO:0004843)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAGCGCGACGTCCAAGTAGGG	0.587																																																0			17											74.0	54.0	61.0					17																	76817092		2203	4300	6503	74328687	SO:0001583	missense	57602			AB040886	CCDS32755.1	17q25.3	2008-02-05	2005-08-08			ENSG00000055483		"""Ubiquitin-specific peptidases"""	20062	protein-coding gene	gene with protein product		612543	"""ubiquitin specific protease 36"""			12838346	Standard	NM_025090		Approved	KIAA1453, FLJ12851	uc002jvz.1	Q9P275		ENST00000542802.3:c.809A>G	17.37:g.76817092T>C	ENSP00000441214:p.Asp270Gly		74328687	Q05C98|Q05DD0|Q6IQ38|Q8NDM8|Q9NVC8	Missense_Mutation	SNP	superfamily_SSF54001,HMMPfam_UCH,PatternScan_UCH_2_1,PatternScan_UCH_2_2,PatternScan_IG_MHC	p.D270G	ENST00000542802.3	37	c.809	CCDS32755.1	17	.	.	.	.	.	.	.	.	.	.	T	25.4	4.632389	0.87660	.	.	ENSG00000055483	ENST00000312010;ENST00000542802;ENST00000432878	T;T	0.06849	3.25;3.25	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.36138	0.0956	M	0.90483	3.12	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.43572	-0.9383	10	0.87932	D	0	-40.4927	14.5984	0.68422	0.0:0.0:0.0:1.0	.	270	Q9P275-2	.	G	270	ENSP00000310590:D270G;ENSP00000441214:D270G	ENSP00000310590:D270G	D	-	2	0	USP36	74328687	1.000000	0.71417	0.939000	0.37840	0.958000	0.62258	7.355000	0.79434	1.931000	0.55961	0.533000	0.62120	GAC	-	superfamily_SSF54001,HMMPfam_UCH		0.587	USP36-003	KNOWN	basic|appris_principal|CCDS	protein_coding	USP36	protein_coding	OTTHUMT00000437472.3	T	NM_025090		74328687	-1	no_errors	NM_025090	genbank	human	validated	54_36p	missense	SNP	1.000	C
CARD14	79092	genome.wustl.edu	37	17	78164600	78164600	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr17:78164600C>A	ENST00000573882.1	+	9	1527	c.991C>A	c.(991-993)Ctg>Atg	p.L331M	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000392434.2_Missense_Mutation_p.L94M|CARD14_ENST00000570421.1_Missense_Mutation_p.L331M|CARD14_ENST00000344227.2_Missense_Mutation_p.L331M			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	331					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein phosphorylation (GO:0001934)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			ACAGACCCTGCTGCAGTTCCA	0.587																																																0			17											91.0	84.0	86.0					17																	78164600		2203	4300	6503	75779195	SO:0001583	missense	79092			AF322642	CCDS11768.1, CCDS58605.1	17q25.3	2014-09-04			ENSG00000141527	ENSG00000141527			16446	protein-coding gene	gene with protein product		607211	"""psoriasis susceptibility 2"""	PSORS2		11278692, 11356195, 22521418	Standard	NM_052819		Approved	CARMA2, BIMP2	uc031res.1	Q9BXL6	OTTHUMG00000177549	ENST00000573882.1:c.991C>A	17.37:g.78164600C>A	ENSP00000458715:p.Leu331Met		75779195	B8QQJ3|Q9BVB5	Missense_Mutation	SNP	superfamily_DEATH domain,HMMPfam_CARD,superfamily_PDZ domain-like,superfamily_P-loop containing nucleoside triphosphate hydrolases	p.L331M	ENST00000573882.1	37	c.991	CCDS11768.1	17	.	.	.	.	.	.	.	.	.	.	c	14.65	2.599116	0.46318	.	.	ENSG00000141527	ENST00000344227;ENST00000392434;ENST00000309710	T;T	0.37058	1.22;1.22	4.26	3.16	0.36331	.	0.171998	0.37393	N	0.002116	T	0.50171	0.1600	M	0.79693	2.465	0.09310	N	0.999997	D;D;D	0.76494	0.974;0.999;0.988	P;D;P	0.65010	0.598;0.931;0.758	T	0.50466	-0.8825	10	0.72032	D	0.01	-19.7579	0.9831	0.01440	0.2328:0.3817:0.226:0.1595	.	331;94;331	B8QQJ3;E7ETJ2;Q9BXL6	.;.;CAR14_HUMAN	M	331;94;94	ENSP00000344549:L331M;ENSP00000376229:L94M	ENSP00000308507:L94M	L	+	1	2	CARD14	75779195	0.854000	0.29725	0.993000	0.49108	0.985000	0.73830	0.637000	0.24659	1.925000	0.55765	0.651000	0.88453	CTG	-	NULL		0.587	CARD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD14	protein_coding	OTTHUMT00000437507.1	C			75779195	+1	no_errors	NM_024110	genbank	human	reviewed	54_36p	missense	SNP	0.040	A
FRG2C	100288801	genome.wustl.edu	37	3	75719046	75719046	+	IGR	SNP	C	C	A	rs78651100	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:75719046C>A	ENST00000308062.3	+	0	2078					NM_001124759.1	NP_001118231.1	A6NGY1	FRG2C_HUMAN	FSHD region gene 2 family, member C							nucleus (GO:0005634)				breast(2)|ovary(1)	3						GGCGTGGGAACCCGAAGACGG	0.701																																																0			3																																								75801736	SO:0001628	intergenic_variant	0				CCDS43108.1	3p12.3	2009-11-25			ENSG00000172969	ENSG00000172969			33626	protein-coding gene	gene with protein product							Standard	NM_001124759		Approved			A6NGY1	OTTHUMG00000158963		3.37:g.75719046C>A			75801736		RNA	SNP	-	NULL	ENST00000308062.3	37	NULL	CCDS43108.1	3																																																																																			-	-		0.701	FRG2C-001	KNOWN	NAGNAG_splice_site|not_best_in_genome_evidence|basic|appris_candidate_longest|CCDS	protein_coding	LOC440015	protein_coding	OTTHUMT00000352694.1	C	NM_001124759.1		75801736	+1	no_errors	XR_015234	genbank	human	model	54_36p	rna	SNP	0.311	A
MSH4	4438	genome.wustl.edu	37	1	76288233	76288233	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:76288233C>G	ENST00000263187.3	+	7	1233	c.1129C>G	c.(1129-1131)Caa>Gaa	p.Q377E		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	377					ATP catabolic process (GO:0006200)|chiasma assembly (GO:0051026)|female gamete generation (GO:0007292)|homologous chromosome segregation (GO:0045143)|mismatch repair (GO:0006298)|ovarian follicle development (GO:0001541)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|mismatched DNA binding (GO:0030983)			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						AGAACTACTTCAAGATGAGGA	0.294								Mismatch excision repair (MMR)																																								0			1											71.0	74.0	73.0					1																	76288233		2203	4293	6496	76060821	SO:0001583	missense	4438			U89293	CCDS670.1	1p31	2013-09-12	2013-09-12		ENSG00000057468	ENSG00000057468			7327	protein-coding gene	gene with protein product		602105	"""mutS (E. coli) homolog 4"", ""mutS homolog 4 (E. coli)"""			9299235	Standard	NM_002440		Approved		uc001dhd.2	O15457	OTTHUMG00000009788	ENST00000263187.3:c.1129C>G	1.37:g.76288233C>G	ENSP00000263187:p.Gln377Glu		76060821	Q5T4U6|Q8NEB3|Q9UNP8	Missense_Mutation	SNP	superfamily_DNA_mismatch_repair_MutS_connt,HMMPfam_MutS_II,HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd,HMMPfam_MutS_IV,HMMPfam_MutS_V,superfamily_SSF52540,HMMSmart_MUTSac,PatternScan_DNA_MISMATCH_REPAIR_2	p.Q377E	ENST00000263187.3	37	c.1129	CCDS670.1	1	.	.	.	.	.	.	.	.	.	.	C	10.43	1.347806	0.24426	.	.	ENSG00000057468	ENST00000263187	D	0.89939	-2.59	5.84	5.84	0.93424	DNA mismatch repair protein MutS, core (3);	0.287214	0.35585	N	0.003113	T	0.74245	0.3691	N	0.16602	0.42	0.41931	D	0.990566	B	0.02656	0.0	B	0.06405	0.002	T	0.68823	-0.5307	10	0.20519	T	0.43	-4.3838	20.1535	0.98095	0.0:1.0:0.0:0.0	.	377	O15457	MSH4_HUMAN	E	377	ENSP00000263187:Q377E	ENSP00000263187:Q377E	Q	+	1	0	MSH4	76060821	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.638000	0.54332	2.764000	0.94973	0.650000	0.86243	CAA	-	HMMPfam_MutS_III,superfamily_DNA_repair_MutS_domIII,HMMSmart_MUTSd		0.294	MSH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSH4	protein_coding	OTTHUMT00000026983.1	C	NM_002440		76060821	+1	no_errors	NM_002440	genbank	human	validated	54_36p	missense	SNP	1.000	G
KIAA1024	23251	genome.wustl.edu	37	15	79748661	79748661	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:79748661C>T	ENST00000305428.3	+	2	247	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	58						integral component of membrane (GO:0016021)				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTGTCTCGATCCCAATTTTCC	0.453																																																0			15											103.0	99.0	100.0					15																	79748661		2196	4293	6489	77535716	SO:0001583	missense	23251			AB028947	CCDS32306.1	15q25.1	2007-12-12				ENSG00000169330			29172	protein-coding gene	gene with protein product						10470851	Standard	NM_015206		Approved		uc002bew.1	Q9UPX6		ENST00000305428.3:c.172C>T	15.37:g.79748661C>T	ENSP00000307461:p.Pro58Ser		77535716	A7MD43	Missense_Mutation	SNP	HMMPfam_UPF0258	p.P58S	ENST00000305428.3	37	c.172	CCDS32306.1	15	.	.	.	.	.	.	.	.	.	.	C	33	5.200756	0.94997	.	.	ENSG00000169330	ENST00000305428	T	0.61510	0.1	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.76814	0.4040	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.74447	-0.3662	9	.	.	.	.	20.2166	0.98299	0.0:1.0:0.0:0.0	.	58	Q9UPX6	K1024_HUMAN	S	58	ENSP00000307461:P58S	.	P	+	1	0	KIAA1024	77535716	1.000000	0.71417	0.922000	0.36590	0.985000	0.73830	7.124000	0.77185	2.781000	0.95711	0.591000	0.81541	CCC	-	NULL		0.453	KIAA1024-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1024	protein_coding	OTTHUMT00000416718.1	C	NM_015206		77535716	+1	no_errors	NM_015206	genbank	human	validated	54_36p	missense	SNP	1.000	T
CRSP8P	441089	genome.wustl.edu	37	5	79646972	79646972	+	IGR	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:79646972G>A								SPZ1 (29311 upstream) : RNU6-211P (14572 downstream)																							TTCTTAACCAGGTCATGAAGG	0.562																																																0			5																																								79682728	SO:0001628	intergenic_variant	441089																															5.37:g.79646972G>A			79682728		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.562					LOC441089			G			79682728	-1	pseudogene	NR_003665	genbank	human	provisional	54_36p	rna	SNP	1.000	A
SEMA4B	10509	genome.wustl.edu	37	15	90763119	90763119	+	Missense_Mutation	SNP	A	A	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:90763119A>C	ENST00000411539.2	+	4	739	c.479A>C	c.(478-480)tAc>tCc	p.Y160S	SEMA4B_ENST00000379122.3_Missense_Mutation_p.Y155S|SEMA4B_ENST00000332496.6_Missense_Mutation_p.Y160S	NM_198925.2	NP_945119.1	Q9NPR2	SEM4B_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B	155	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.			N -> P (in Ref. 6; CAB98205). {ECO:0000305}.	cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)	receptor activity (GO:0004872)			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ATGTGTACCTACATCGTGAGT	0.587											OREG0023468	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			15											67.0	67.0	67.0					15																	90763119		2059	4179	6238	88564123	SO:0001583	missense	10509			AB051532	CCDS45347.1	15q25	2008-07-18						"""Semaphorins"""	10730	protein-coding gene	gene with protein product				SEMAC		7748561	Standard	NM_020210		Approved	SemC, KIAA1745, MGC131831	uc002boz.3	Q9NPR2		ENST00000411539.2:c.479A>C	15.37:g.90763119A>C	ENSP00000394720:p.Tyr160Ser	1277	88564123	Q6UXE3|Q8WVP9|Q96FK5|Q9C0B8|Q9H691|Q9NPM8|Q9NPN0	Missense_Mutation	SNP	superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630,HMMPfam_PSI,HMMSmart_SM00423,superfamily_Plexin repeat	p.Y160S	ENST00000411539.2	37	c.479	CCDS45347.1	15	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762514	0.49574	.	.	ENSG00000185033	ENST00000332496;ENST00000379122;ENST00000411539	T;T;T	0.32023	1.47;1.47;1.47	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.55257	0.1909	M	0.72576	2.205	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.76575	0.988;0.988	T	0.58842	-0.7565	10	0.87932	D	0	.	15.0383	0.71767	1.0:0.0:0.0:0.0	.	160;155	Q2NL81;Q9NPR2	.;SEM4B_HUMAN	S	160;155;160	ENSP00000332204:Y160S;ENSP00000368417:Y155S;ENSP00000394720:Y160S	ENSP00000332204:Y160S	Y	+	2	0	SEMA4B	88564123	1.000000	0.71417	0.993000	0.49108	0.744000	0.42396	4.335000	0.59298	2.288000	0.76882	0.533000	0.62120	TAC	-	superfamily_Sema domain,HMMPfam_Sema,HMMSmart_SM00630		0.587	SEMA4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4B	protein_coding	OTTHUMT00000416810.1	A	NM_198925		88564123	+1	no_errors	NM_020210	genbank	human	validated	54_36p	missense	SNP	1.000	C
STEAP1	26872	genome.wustl.edu	37	7	89790156	89790156	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:89790156C>A	ENST00000297205.2	+	3	322	c.122C>A	c.(121-123)cCt>cAt	p.P41H	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	41					ion transport (GO:0006811)|iron ion homeostasis (GO:0055072)|transmembrane transport (GO:0055085)	cell-cell junction (GO:0005911)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	channel activity (GO:0015267)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					CTAAAAAGACCTGTGCTTTTG	0.418																																																0			7											112.0	109.0	110.0					7																	89790156		2203	4300	6503	89628092	SO:0001583	missense	26872			AF186249	CCDS5614.1	7q21	2011-08-31	2005-02-21	2005-02-24	ENSG00000164647	ENSG00000164647		"""Serine peptidases / Serine peptidases"""	11378	protein-coding gene	gene with protein product		604415	"""six transmembrane epithelial antigen of the prostate"""	STEAP			Standard	NM_012449		Approved	PRSS24	uc003ujx.3	Q9UHE8	OTTHUMG00000023006	ENST00000297205.2:c.122C>A	7.37:g.89790156C>A	ENSP00000297205:p.Pro41His		89628092	A4D1E0|O95034	Missense_Mutation	SNP	HMMPfam_Ferric_reduct	p.P41H	ENST00000297205.2	37	c.122	CCDS5614.1	7	.	.	.	.	.	.	.	.	.	.	C	11.68	1.712189	0.30322	.	.	ENSG00000164647	ENST00000297205	T	0.08008	3.14	5.02	4.13	0.48395	.	0.196420	0.36444	N	0.002588	T	0.09423	0.0232	L	0.46885	1.475	0.30681	N	0.75235	B;B	0.11235	0.004;0.002	B;B	0.08055	0.003;0.003	T	0.02877	-1.1099	10	0.52906	T	0.07	-1.7414	11.9922	0.53182	0.3139:0.6861:0.0:0.0	.	41;41	B4E221;Q9UHE8	.;STEA1_HUMAN	H	41	ENSP00000297205:P41H	ENSP00000297205:P41H	P	+	2	0	STEAP1	89628092	0.963000	0.33076	0.998000	0.56505	0.699000	0.40488	1.232000	0.32636	1.317000	0.45149	0.655000	0.94253	CCT	-	NULL		0.418	STEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STEAP1	protein_coding	OTTHUMT00000059327.3	C	NM_012449		89628092	+1	no_errors	NM_012449	genbank	human	reviewed	54_36p	missense	SNP	0.490	A
GPC5	2262	genome.wustl.edu	37	13	92408576	92408576	+	Nonsense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:92408576C>G	ENST00000377067.3	+	5	1554	c.1182C>G	c.(1180-1182)taC>taG	p.Y394*	GPC5_ENST00000483422.1_3'UTR	NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	394					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TTCGACTGTACAGGTCATTCT	0.368																																																0			13											118.0	115.0	116.0					13																	92408576		2203	4300	6503	91206577	SO:0001587	stop_gained	2262			AF001462	CCDS9468.1	13q32	2011-08-01			ENSG00000179399	ENSG00000179399		"""Proteoglycans / Cell Surface : Glypicans"""	4453	protein-coding gene	gene with protein product	"""glypican proteoglycan 5"""	602446				9070915, 20304703, 19556317, 15057823	Standard	NM_004466		Approved		uc010tif.2	P78333	OTTHUMG00000017200	ENST00000377067.3:c.1182C>G	13.37:g.92408576C>G	ENSP00000366267:p.Tyr394*		91206577	B2R726|O60436|Q9BX27	Nonsense_Mutation	SNP	HMMPfam_Glypican,PatternScan_GLYPICAN	p.Y394*	ENST00000377067.3	37	c.1182	CCDS9468.1	13	.	.	.	.	.	.	.	.	.	.	C	38	6.966439	0.97967	.	.	ENSG00000179399	ENST00000377067	.	.	.	5.32	1.4	0.22301	.	0.318305	0.34460	N	0.003947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.0862	8.1572	0.31176	0.0:0.6441:0.0:0.3559	.	.	.	.	X	394	.	ENSP00000366267:Y394X	Y	+	3	2	GPC5	91206577	0.883000	0.30277	0.487000	0.27428	0.921000	0.55340	0.405000	0.21015	-0.061000	0.13110	-0.324000	0.08512	TAC	-	HMMPfam_Glypican		0.368	GPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC5	protein_coding	OTTHUMT00000045454.1	C	NM_004466		91206577	+1	no_errors	NM_004466	genbank	human	reviewed	54_36p	nonsense	SNP	0.957	G
BRDT	676	genome.wustl.edu	37	1	92445146	92445146	+	Missense_Mutation	SNP	T	T	G	rs373509947		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:92445146T>G	ENST00000362005.3	+	9	1537	c.1119T>G	c.(1117-1119)ttT>ttG	p.F373L	BRDT_ENST00000370389.2_Missense_Mutation_p.F300L|BRDT_ENST00000394530.3_Missense_Mutation_p.F327L|BRDT_ENST00000402388.1_Missense_Mutation_p.F373L|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.F373L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	373					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		AAACGCATTTTTCAAAGATCC	0.333																																																0			1						T	LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE,LEU/PHE	0,4406		0,0,2203	84.0	85.0	85.0		1119,1131,981,981,900,1119,1119	5.7	1.0	1		85	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	BRDT	NM_001242805.1,NM_001242806.1,NM_001242807.1,NM_001242808.1,NM_001242810.1,NM_001726.3,NM_207189.2	22,22,22,22,22,22,22	0,1,6502	GG,GT,TT		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	373/948,377/952,327/902,327/902,300/875,373/948,373/948	92445146	1,13005	2203	4300	6503	92217734	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.1119T>G	1.37:g.92445146T>G	ENSP00000354568:p.Phe373Leu		92217734	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.F373L	ENST00000362005.3	37	c.1119	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.196389	0.78902	0.0	1.16E-4	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000426141;ENST00000402388	T;T;T;T;T;T	0.15718	2.4;2.4;2.4;2.4;2.4;2.4	5.65	5.65	0.86999	Bromodomain (3);	0.000000	0.64402	D	0.000001	T	0.32224	0.0822	M	0.69185	2.1	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.983;1.0	D;D;P;D	0.80764	0.994;0.994;0.761;0.994	T	0.09314	-1.0680	10	0.87932	D	0	-21.6547	15.8689	0.79091	0.0:0.0:0.0:1.0	.	327;327;377;373	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	373;300;373;373;327;373;373	ENSP00000354568:F373L;ENSP00000359416:F300L;ENSP00000387822:F373L;ENSP00000378038:F327L;ENSP00000404969:F373L;ENSP00000384051:F373L	ENSP00000354568:F373L	F	+	3	2	BRDT	92217734	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	4.734000	0.62043	2.150000	0.67090	0.533000	0.62120	TTT	-	superfamily_Bromodomain,HMMSmart_SM00297		0.333	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	protein_coding	OTTHUMT00000027980.2	T	NM_207189		92217734	+1	no_errors	NM_001726	genbank	human	validated	54_36p	missense	SNP	1.000	G
LOC440311	440311	genome.wustl.edu	37	15	95399441	95399441	+	lincRNA	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr15:95399441C>A	ENST00000602330.1	-	0	293																											GAGCTTCCTACAACCCGTACT	0.657																																																0			15																																								93200445			440311																															15.37:g.95399441C>A			93200445		RNA	SNP	-	NULL	ENST00000602330.1	37	NULL		15																																																																																			-	-		0.657	CTD-2576F9.2-001	KNOWN	basic	lincRNA	LOC440311	lincRNA	OTTHUMT00000467393.1	C			93200445	+1	pseudogene	XR_016779	genbank	human	model	54_36p	rna	SNP	0.749	A
MTF2	22823	genome.wustl.edu	37	1	93586126	93586126	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:93586126G>C	ENST00000370298.4	+	9	1107	c.818G>C	c.(817-819)tGc>tCc	p.C273S	MTF2_ENST00000370303.4_Missense_Mutation_p.C273S|MTF2_ENST00000545708.1_Missense_Mutation_p.C171S|MTF2_ENST00000540243.1_Missense_Mutation_p.C171S|MTF2_ENST00000471953.1_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	273					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		GCACACCTATGCCTTTACAAC	0.328																																																0			1											139.0	140.0	140.0					1																	93586126		2203	4300	6503	93358714	SO:0001583	missense	22823			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.818G>C	1.37:g.93586126G>C	ENSP00000359321:p.Cys273Ser		93358714	A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	HMMSmart_SM00333,superfamily_Tudor/PWWP/MBT,superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.C273S	ENST00000370298.4	37	c.818	CCDS742.1	1	.	.	.	.	.	.	.	.	.	.	G	14.68	2.608200	0.46527	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953;ENST00000370303	T;T;T;T	0.15952	2.38;2.38;2.38;2.38	5.69	5.69	0.88448	.	0.043336	0.85682	D	0.000000	T	0.02533	0.0077	N	0.00368	-1.59	0.80722	D	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.003	T	0.46345	-0.9198	10	0.39692	T	0.17	-3.3918	20.181	0.98201	0.0:0.0:1.0:0.0	.	273;273	B1AKT6;Q9Y483	.;MTF2_HUMAN	S	171;171;273;171;273	ENSP00000444962:C171S;ENSP00000443295:C171S;ENSP00000359321:C273S;ENSP00000359326:C273S	ENSP00000359321:C273S	C	+	2	0	MTF2	93358714	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.717000	0.84732	2.840000	0.97914	0.655000	0.94253	TGC	-	NULL		0.328	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	protein_coding	OTTHUMT00000028075.3	G	NM_007358		93358714	+1	no_errors	NM_007358	genbank	human	validated	54_36p	missense	SNP	1.000	C
BTK	695	genome.wustl.edu	37	X	100617578	100617578	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chrX:100617578C>G	ENST00000308731.7	-	6	654	c.491G>C	c.(490-492)gGc>gCc	p.G164A	BTK_ENST00000372880.1_Missense_Mutation_p.G164A	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	164					adaptive immune response (GO:0002250)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|calcium-mediated signaling (GO:0019722)|cell maturation (GO:0048469)|Fc-epsilon receptor signaling pathway (GO:0038095)|histamine secretion by mast cell (GO:0002553)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of B cell apoptotic process (GO:0002902)|regulation of B cell cytokine production (GO:0002721)|response to organic substance (GO:0010033)|response to reactive oxygen species (GO:0000302)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|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)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|mast cell granule (GO:0042629)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein tyrosine kinase activity (GO:0004713)			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AATTTGGCAGCCCATAGCATT	0.443									Agammaglobulinemia, X-linked																																							0			X											136.0	123.0	127.0					X																	100617578		2203	4300	6503	100504234	SO:0001583	missense	695	Familial Cancer Database	Bruton Type Agammaglobulinemia	AK057105	CCDS14482.1, CCDS76002.1, CCDS76003.1	Xq21.33-q22	2014-09-17			ENSG00000010671	ENSG00000010671	2.7.10.1	"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	1133	protein-coding gene	gene with protein product		300300		AGMX1, IMD1		8380905	Standard	NM_000061		Approved	ATK, XLA, PSCTK1	uc004ehg.2	Q06187	OTTHUMG00000022022	ENST00000308731.7:c.491G>C	X.37:g.100617578C>G	ENSP00000308176:p.Gly164Ala		100504234	B2RAW1|Q32ML5	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,HMMSmart_BTK,HMMPfam_BTK,superfamily_SH3,HMMPfam_SH3_1,HMMSmart_SH3,superfamily_SSF55550,HMMSmart_SH2,HMMPfam_SH2,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.G164A	ENST00000308731.7	37	c.491	CCDS14482.1	X	.	.	.	.	.	.	.	.	.	.	C	27.5	4.832913	0.91036	.	.	ENSG00000010671	ENST00000372880;ENST00000308731	D;D	0.99947	-8.64;-8.64	5.49	5.49	0.81192	Pleckstrin homology-type (1);Zinc finger, Btk motif (4);	0.000000	0.85682	D	0.000000	D	0.99943	0.9975	M	0.85197	2.74	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.95629	0.8688	10	0.54805	T	0.06	.	18.4742	0.90786	0.0:1.0:0.0:0.0	.	164;164;164	Q5JY90;B2RAW1;Q06187	.;.;BTK_HUMAN	A	164	ENSP00000361971:G164A;ENSP00000308176:G164A	ENSP00000308176:G164A	G	-	2	0	BTK	100504234	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.475000	0.81041	2.305000	0.77605	0.529000	0.55759	GGC	-	superfamily_SSF50729,HMMSmart_BTK,HMMPfam_BTK		0.443	BTK-006	KNOWN	basic|appris_principal|CCDS	protein_coding	BTK	protein_coding	OTTHUMT00000057532.2	C	NM_000061		100504234	-1	no_errors	NM_000061	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
VPS13B	157680	genome.wustl.edu	37	8	100791076	100791076	+	Silent	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:100791076A>G	ENST00000358544.2	+	42	7782	c.7671A>G	c.(7669-7671)ctA>ctG	p.L2557L	VPS13B_ENST00000357162.2_Silent_p.L2532L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2557					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTAAACTTCTAGAGTGCAGAA	0.453																																					Colon(161;2205 2542 7338 31318)											0			8											124.0	116.0	119.0					8																	100791076		2203	4300	6503	100860252	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7671A>G	8.37:g.100791076A>G			100860252	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	PatternScan_ZINC_PROTEASE	p.L2557	ENST00000358544.2	37	c.7671	CCDS6280.1	8																																																																																			-	NULL		0.453	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	protein_coding	OTTHUMT00000277138.1	A	NM_184042		100860252	+1	no_errors	NM_017890	genbank	human	reviewed	54_36p	silent	SNP	0.918	G
MAN2A1	4124	genome.wustl.edu	37	5	109120519	109120519	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:109120519C>T	ENST00000261483.4	+	10	2704	c.1652C>T	c.(1651-1653)tCa>tTa	p.S551L		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	551					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CTCTCATCATCACTTTACACG	0.378																																																0			5											110.0	109.0	110.0					5																	109120519		2202	4300	6502	109148418	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1652C>T	5.37:g.109120519C>T	ENSP00000261483:p.Ser551Leu		109148418	Q16767	Missense_Mutation	SNP	superfamily_Glyco_hydro/deAcase_b/a-brl,HMMPfam_Glyco_hydro_38,superfamily_SSF88688,HMMPfam_Alpha-mann_mid,superfamily_Gal_mut_like,HMMPfam_Glyco_hydro_38C	p.S551L	ENST00000261483.4	37	c.1652	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	12.24	1.877759	0.33162	.	.	ENSG00000112893	ENST00000261483	T	0.78364	-1.17	5.95	5.09	0.68999	Glycoside hydrolase, family 38, central domain (2);	0.851463	0.10336	N	0.686867	T	0.76550	0.4003	M	0.69358	2.11	0.09310	N	1	B	0.18166	0.026	B	0.29176	0.099	T	0.65212	-0.6223	10	0.36615	T	0.2	-0.0036	8.0705	0.30687	0.2601:0.662:0.0:0.0779	.	551	Q16706	MA2A1_HUMAN	L	551	ENSP00000261483:S551L	ENSP00000261483:S551L	S	+	2	0	MAN2A1	109148418	0.564000	0.26602	0.007000	0.13788	0.534000	0.34807	1.795000	0.38784	1.527000	0.49086	0.655000	0.94253	TCA	-	superfamily_SSF88688,HMMPfam_Alpha-mann_mid		0.378	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	protein_coding	OTTHUMT00000370680.1	C			109148418	+1	no_errors	NM_002372	genbank	human	reviewed	54_36p	missense	SNP	0.090	T
PKHD1L1	93035	genome.wustl.edu	37	8	110471858	110471858	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:110471858G>C	ENST00000378402.5	+	47	7143	c.7039G>C	c.(7039-7041)Gca>Cca	p.A2347P		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2347					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AATGACCATTGCATCTGTGTC	0.318										HNSCC(38;0.096)																																						0			8											64.0	57.0	59.0					8																	110471858		1850	4094	5944	110541034	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7039G>C	8.37:g.110471858G>C	ENSP00000367655:p.Ala2347Pro		110541034	Q567P2|Q9UF27	Missense_Mutation	SNP	superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,HMMSmart_SM00758,superfamily_Anthrax protective antigen,HMMSmart_SM00710,superfamily_Cupredoxins,HMMPfam_G8,superfamily_Pectin lyase-like	p.A2347P	ENST00000378402.5	37	c.7039	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	12.91	2.080460	0.36662	.	.	ENSG00000205038	ENST00000378402	D	0.93076	-3.16	5.44	5.44	0.79542	.	0.199993	0.41500	D	0.000868	D	0.90834	0.7121	L	0.49256	1.55	0.28232	N	0.926064	P	0.36990	0.577	B	0.39590	0.304	D	0.86210	0.1624	10	0.37606	T	0.19	.	11.7984	0.52112	0.0:0.0:0.8246:0.1754	.	2347	Q86WI1	PKHL1_HUMAN	P	2347	ENSP00000367655:A2347P	ENSP00000367655:A2347P	A	+	1	0	PKHD1L1	110541034	0.975000	0.34042	0.783000	0.31826	0.121000	0.20230	4.857000	0.62939	2.566000	0.86566	0.455000	0.32223	GCA	-	NULL		0.318	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110541034	+1	no_errors	NM_177531	genbank	human	validated	54_36p	missense	SNP	0.944	C
WDR31	114987	genome.wustl.edu	37	9	116082736	116082736	+	Silent	SNP	A	A	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:116082736A>C	ENST00000374193.4	-	9	927	c.681T>G	c.(679-681)ccT>ccG	p.P227P	WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000374195.3_Silent_p.P102P|WDR31_ENST00000341761.4_Silent_p.P226P	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	227										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						GCTGCTTTGCAGGAAACATAT	0.488																																																0			9											105.0	92.0	96.0					9																	116082736		2203	4300	6503	115122557	SO:0001819	synonymous_variant	114987			BC012352	CCDS6792.1, CCDS35110.1	9q33.1	2013-01-09			ENSG00000148225	ENSG00000148225		"""WD repeat domain containing"""	21421	protein-coding gene	gene with protein product	"""similar to spermatid WD-repeat protein"""						Standard	NM_145241		Approved	FLJ35921	uc004bhb.3	Q8NA23	OTTHUMG00000020525	ENST00000374193.4:c.681T>G	9.37:g.116082736A>C			115122557	Q5W0T9|Q96EG8	Silent	SNP	PatternScan_TONB_DEPENDENT_REC_1,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40,PatternScan_WD_REPEATS_1	p.P227	ENST00000374193.4	37	c.681	CCDS35110.1	9																																																																																			-	superfamily_WD40 repeat-like		0.488	WDR31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR31	protein_coding	OTTHUMT00000053734.2	A	NM_145241		115122557	-1	no_errors	NM_001012361	genbank	human	reviewed	54_36p	silent	SNP	0.009	C
NOTCH2	4853	genome.wustl.edu	37	1	120612006	120612006	+	Silent	SNP	G	G	A	rs4021006	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:120612006G>A	ENST00000256646.2	-	1	234	c.15C>T	c.(13-15)cgC>cgT	p.R5R		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	5					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCAGAGCGGGGCGCAGGGCGG	0.761			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome				g|||	1973	0.39397	0.2632	0.4049	5008	,	,		21911	0.4315		0.4423	False		,,,				2504	0.4744						Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1											6.0	8.0	8.0					1																	120612006		1838	3882	5720	120413529	SO:0001819	synonymous_variant	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.15C>T	1.37:g.120612006G>A			120413529	Q5T3X7|Q99734|Q9H240	Silent	SNP	superfamily_SSF57196,HMMSmart_EGF,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_EGF_CA,PatternScan_ASX_HYDROXYL,HMMSmart_NL,HMMPfam_Notch,superfamily_Notch_region,HMMPfam_NOD,HMMPfam_NODP,superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank	p.R5	ENST00000256646.2	37	c.15	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	G	9.758	1.169358	0.21621	.	.	ENSG00000134250	ENST00000538680	.	.	.	2.9	1.95	0.26073	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.0819	0.14661	0.1818:0.0:0.8182:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NOTCH2	120413529	0.988000	0.35896	0.959000	0.39883	0.588000	0.36517	1.074000	0.30703	0.543000	0.28864	0.184000	0.17185	.	-	NULL		0.761	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	protein_coding	OTTHUMT00000033679.1	G	NM_024408		120413529	-1	no_errors	NM_024408	genbank	human	reviewed	54_36p	silent	SNP	0.985	A
OR10G9	219870	genome.wustl.edu	37	11	123893854	123893854	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr11:123893854G>A	ENST00000375024.1	+	1	135	c.135G>A	c.(133-135)ctG>ctA	p.L45L		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	45						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCATCCTGCTGGTGATCAGGG	0.567																																																0			11											89.0	81.0	84.0					11																	123893854		2201	4295	6496	123399064	SO:0001819	synonymous_variant	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.135G>A	11.37:g.123893854G>A			123399064		Silent	SNP	HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,superfamily_SSF81321	p.L45	ENST00000375024.1	37	c.135	CCDS31703.1	11																																																																																			-	HMMPfam_7tm_1,superfamily_SSF81321		0.567	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	protein_coding	OTTHUMT00000387269.1	G	NM_001001953		123399064	+1	no_errors	NM_001001953	genbank	human	provisional	54_36p	silent	SNP	0.005	A
DAB2IP	153090	genome.wustl.edu	37	9	124528909	124528909	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:124528909C>G	ENST00000408936.3	+	9	1779	c.1597C>G	c.(1597-1599)Ccc>Gcc	p.P533A	DAB2IP_ENST00000309989.1_Missense_Mutation_p.P409A|DAB2IP_ENST00000259371.2_Missense_Mutation_p.P505A			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	533	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				activation of JUN kinase activity (GO:0007257)|activation of MAPKKK activity (GO:0000185)|angiogenesis (GO:0001525)|cell cycle (GO:0007049)|cell motility involved in cerebral cortex radial glia guided migration (GO:0021814)|cellular protein catabolic process (GO:0044257)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial cell apoptotic process (GO:0072577)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|layer formation in cerebral cortex (GO:0021819)|negative regulation of angiogenesis (GO:0016525)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of GTPase activity (GO:0034260)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphatidylinositol 3-kinase activity (GO:0043553)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of Ras GTPase activity (GO:0034261)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuron projection morphogenesis (GO:0048812)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of dendrite development (GO:1900006)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of synapse maturation (GO:0090129)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of ARF GTPase activity (GO:0032312)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of p38MAPK cascade (GO:1900744)|regulation of protein complex assembly (GO:0043254)|response to unfolded protein (GO:0006986)|transformed cell apoptotic process (GO:0006927)|tube formation (GO:0035148)|vascular endothelial growth factor receptor-2 signaling pathway (GO:0036324)	axon (GO:0030424)|cerebellar mossy fiber (GO:0044300)|climbing fiber (GO:0044301)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|neuronal cell body (GO:0043025)|neuronal cell body membrane (GO:0032809)|parallel fiber (GO:1990032)|plasma membrane (GO:0005886)	14-3-3 protein binding (GO:0071889)|death receptor binding (GO:0005123)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|mitogen-activated protein kinase kinase binding (GO:0031434)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein phosphatase 2A binding (GO:0051721)|Ras GTPase activator activity (GO:0005099)|SH3 domain binding (GO:0017124)|signaling adaptor activity (GO:0035591)|vascular endothelial growth factor receptor 2 binding (GO:0043184)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CATCATGTCGCCCTCACTCTT	0.637																																																0			9											155.0	134.0	141.0					9																	124528909		2203	4300	6503	123568730	SO:0001583	missense	153090			AF367051	CCDS6832.1, CCDS6833.2	9q33.1-q33.3	2008-07-21			ENSG00000136848	ENSG00000136848			17294	protein-coding gene	gene with protein product	"""nGAP-like protein"", ""DOC-2/DAB2 interactive protein"", ""ASK-interacting protein"", ""ASK1-interacting protein 1"""	609205				11944990, 11812785	Standard	XM_005251721		Approved	AF9Q34, DIP1/2, KIAA1743, AIP1	uc004bln.3	Q5VWQ8	OTTHUMG00000020595	ENST00000408936.3:c.1597C>G	9.37:g.124528909C>G	ENSP00000386183:p.Pro533Ala		123568730	A6H8V2|A6NHI9|B0QZB1|G3XA90|Q8TDL2|Q96SE1|Q9C0C0	Missense_Mutation	SNP	HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_PH,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1	p.P505A	ENST00000408936.3	37	c.1513		9	.	.	.	.	.	.	.	.	.	.	c	21.4	4.147246	0.77888	.	.	ENSG00000136848	ENST00000259371;ENST00000408936;ENST00000373782;ENST00000309989	T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38	4.56	3.66	0.41972	.	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90614	0.4554	10	0.87932	D	0	.	12.263	0.54661	0.0:0.917:0.0:0.083	.	505	G3XA90	.	A	505;533;442;409	ENSP00000259371:P505A;ENSP00000386183:P533A;ENSP00000362887:P442A;ENSP00000310827:P409A	ENSP00000259371:P505A	P	+	1	0	DAB2IP	123568730	1.000000	0.71417	0.909000	0.35828	0.965000	0.64279	6.055000	0.71103	1.064000	0.40671	-0.124000	0.14976	CCC	-	HMMSmart_SM00323,superfamily_GTPase activation domain GAP,HMMPfam_RasGAP,PatternScan_RAS_GTPASE_ACTIV_1		0.637	DAB2IP-009	KNOWN	basic|appris_candidate_longest	protein_coding	DAB2IP	protein_coding	OTTHUMT00000317857.1	C	NM_032552		123568730	+1	no_errors	NM_032552	genbank	human	validated	54_36p	missense	SNP	1.000	G
PTGS1	5742	genome.wustl.edu	37	9	125148802	125148802	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr9:125148802G>C	ENST00000362012.2	+	9	1092	c.1087G>C	c.(1087-1089)Gag>Cag	p.E363Q	AL162424.1_ENST00000600713.1_Intron|PTGS1_ENST00000223423.4_Missense_Mutation_p.E363Q|PTGS1_ENST00000540753.1_Missense_Mutation_p.E338Q|PTGS1_ENST00000373698.5_Missense_Mutation_p.E254Q	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	363					arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|prostaglandin biosynthetic process (GO:0001516)|regulation of blood pressure (GO:0008217)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)	dioxygenase activity (GO:0051213)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)|prostaglandin-endoperoxide synthase activity (GO:0004666)			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Antipyrine(DB01435)|Antrafenine(DB01419)|Balsalazide(DB01014)|Bortezomib(DB00188)|Bromfenac(DB00963)|Candesartan(DB00796)|Carprofen(DB00821)|Carvedilol(DB01136)|Chlorpropamide(DB00672)|Dapsone(DB00250)|Desmopressin(DB00035)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Diflunisal(DB00861)|Dihomo-gamma-linolenic acid(DB00154)|Diphenhydramine(DB01075)|Dronabinol(DB00470)|Eletriptan(DB00216)|Eszopiclone(DB00402)|Etodolac(DB00749)|Etoposide(DB00773)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|Hexobarbital(DB01355)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Icosapent(DB00159)|Ifosfamide(DB01181)|Imatinib(DB00619)|Indomethacin(DB00328)|Irbesartan(DB01029)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lornoxicam(DB06725)|Lumiracoxib(DB01283)|Magnesium salicylate(DB01397)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Minoxidil(DB00350)|Montelukast(DB00471)|Nabumetone(DB00461)|Naproxen(DB00788)|Nateglinide(DB00731)|Nepafenac(DB06802)|Niflumic Acid(DB04552)|Nortriptyline(DB00540)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Pioglitazone(DB01132)|Piroxicam(DB00554)|Rosiglitazone(DB00412)|Salicylate-sodium(DB01398)|Salicylic acid(DB00936)|Salsalate(DB01399)|Sulfamethoxazole(DB01015)|Sulfasalazine(DB00795)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Terbinafine(DB00857)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Torasemide(DB00214)|Trabectedin(DB05109)|Triflusal(DB08814)|Trisalicylate-choline(DB01401)|Valproic Acid(DB00313)|Voriconazole(DB00582)|Zafirlukast(DB00549)|Zileuton(DB00744)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATTTGACCCAGAGCTGCTGTT	0.537																																																0			9											176.0	175.0	176.0					9																	125148802		2203	4300	6503	124188623	SO:0001583	missense	5742			M59979	CCDS6842.1, CCDS6843.1, CCDS59520.1, CCDS59521.1, CCDS75895.1	9q32-q33.3	2008-02-05			ENSG00000095303	ENSG00000095303	1.14.99.1		9604	protein-coding gene	gene with protein product		176805				2512924, 1907252	Standard	NM_000962		Approved	COX1, PGHS-1, PTGHS	uc004bmg.2	P23219	OTTHUMG00000020605	ENST00000362012.2:c.1087G>C	9.37:g.125148802G>C	ENSP00000354612:p.Glu363Gln		124188623	A8K1V7|B4DHQ2|B4E2S5|Q15122|Q3HY28|Q3HY29|Q5T7T6|Q5T7T7|Q5T7T8	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMPfam_EGF,superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase	p.E363Q	ENST00000362012.2	37	c.1087	CCDS6842.1	9	.	.	.	.	.	.	.	.	.	.	G	12.93	2.085784	0.36758	.	.	ENSG00000095303	ENST00000540753;ENST00000362012;ENST00000223423;ENST00000373698	T;T;T;T	0.11277	2.79;2.79;2.79;2.79	5.36	4.47	0.54385	.	0.211332	0.49305	D	0.000147	T	0.26011	0.0634	M	0.70842	2.15	0.41659	D	0.98917	P;P;B	0.46277	0.875;0.702;0.322	P;B;B	0.56216	0.794;0.356;0.272	T	0.01175	-1.1428	10	0.45353	T	0.12	-27.6502	12.8782	0.58001	0.0782:0.0:0.9218:0.0	.	338;363;363	B4DHQ2;P23219;P23219-2	.;PGH1_HUMAN;.	Q	338;363;363;254	ENSP00000437709:E338Q;ENSP00000354612:E363Q;ENSP00000223423:E363Q;ENSP00000362802:E254Q	ENSP00000223423:E363Q	E	+	1	0	PTGS1	124188623	1.000000	0.71417	0.830000	0.32933	0.296000	0.27459	3.451000	0.52964	1.261000	0.44149	0.563000	0.77884	GAG	-	superfamily_Heme-dependent peroxidases,HMMPfam_An_peroxidase		0.537	PTGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGS1	protein_coding	OTTHUMT00000053933.1	G			124188623	+1	no_errors	NM_000962	genbank	human	reviewed	54_36p	missense	SNP	0.631	C
GCC1	79571	genome.wustl.edu	37	7	127222558	127222558	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:127222558G>C	ENST00000321407.2	-	2	2262	c.1838C>G	c.(1837-1839)tCt>tGt	p.S613C	GCC1_ENST00000497650.1_5'Flank	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	613					protein targeting to Golgi (GO:0000042)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)				breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TGGCAGCCCAGAGGCCAAGGC	0.592																																																0			7											70.0	69.0	69.0					7																	127222558		2203	4300	6503	127009794	SO:0001583	missense	79571			AF525417	CCDS5796.1	7q22.3	2004-03-05	2003-10-17		ENSG00000179562	ENSG00000179562			19095	protein-coding gene	gene with protein product		607418	"""golgi coiled-coil 1"""			10209125	Standard	NM_024523		Approved	FLJ22035, GCC88, GCC1P, MGC20706	uc003vma.3	Q96CN9	OTTHUMG00000023590	ENST00000321407.2:c.1838C>G	7.37:g.127222558G>C	ENSP00000318821:p.Ser613Cys		127009794	Q9H6N7	Missense_Mutation	SNP	HMMPfam_GRIP,HMMSmart_SM00755	p.S613C	ENST00000321407.2	37	c.1838	CCDS5796.1	7	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027847	0.19512	.	.	ENSG00000179562	ENST00000321407	T	0.13657	2.57	5.24	3.4	0.38934	.	0.429791	0.24776	N	0.035683	T	0.13670	0.0331	L	0.46157	1.445	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.15093	-1.0449	10	0.45353	T	0.12	-0.4673	12.3573	0.55182	0.0:0.3258:0.6742:0.0	.	613	Q96CN9	GCC1_HUMAN	C	613	ENSP00000318821:S613C	ENSP00000318821:S613C	S	-	2	0	GCC1	127009794	0.968000	0.33430	0.039000	0.18376	0.981000	0.71138	4.399000	0.59703	0.665000	0.31066	0.655000	0.94253	TCT	-	NULL		0.592	GCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCC1	protein_coding	OTTHUMT00000059911.3	G	NM_024523		127009794	-1	no_errors	NM_024523	genbank	human	reviewed	54_36p	missense	SNP	0.519	C
POTEI	653269	genome.wustl.edu	37	2	131258107	131258107	+	Splice_Site	SNP	A	A	G	rs377261013		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:131258107A>G	ENST00000451531.2	-	4	1348		c.e4+1		RNU6-473P_ENST00000516164.1_RNA	NM_001277406.1	NP_001264335.1	P0CG38	POTEI_HUMAN	POTE ankyrin domain family, member I						retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				lung(11)	11						AAAGAACTATACCTTCCATAT	0.328																																																0			2																																								130974577	SO:0001630	splice_region_variant	653269				CCDS59431.1	2q21.1	2013-01-10			ENSG00000196834	ENSG00000196834		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37093	protein-coding gene	gene with protein product						16364570	Standard	NM_001277406		Approved	POTE2beta	uc031rpa.1	P0CG38	OTTHUMG00000153925	ENST00000451531.2:c.917+1T>C	2.37:g.131258107A>G			130974577		Splice_Site	SNP	-	e4+2	ENST00000451531.2	37	c.917+2	CCDS59431.1	2	.	.	.	.	.	.	.	.	.	.	a	7.621	0.676923	0.14841	.	.	ENSG00000196834	ENST00000451531	.	.	.	1.35	1.35	0.21983	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8866	0.13706	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	POTEI	130974577	0.997000	0.39634	0.051000	0.19133	0.057000	0.15508	3.591000	0.53986	0.891000	0.36235	0.155000	0.16302	.	-	-		0.328	POTEI-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	LOC653269	protein_coding	OTTHUMT00000333222.2	A	XM_928585	Intron	130974577	-1	no_errors	XM_928585	genbank	human	model	54_36p	splice_site	SNP	0.717	G
PLEKHB2	55041	genome.wustl.edu	37	2	131904268	131904268	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:131904268C>G	ENST00000403716.1	+	8	1151	c.591C>G	c.(589-591)aaC>aaG	p.N197K	PLEKHB2_ENST00000409158.1_Missense_Mutation_p.N205K|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000234115.6_Missense_Mutation_p.N196K|PLEKHB2_ENST00000538982.1_Missense_Mutation_p.N149K|PLEKHB2_ENST00000438882.2_Missense_Mutation_p.T161R|PLEKHB2_ENST00000409612.1_Missense_Mutation_p.N197K|PLEKHB2_ENST00000439822.2_Missense_Mutation_p.T153R|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000409279.1_Missense_Mutation_p.N197K	NM_001100623.1|NM_001267062.1|NM_001267063.1|NM_001267064.1|NM_001267065.1|NM_001267066.1|NM_017958.2	NP_001094093.1|NP_001253991.1|NP_001253992.1|NP_001253993.1|NP_001253994.1|NP_001253995.1|NP_060428.2	Q96CS7	PKHB2_HUMAN	pleckstrin homology domain containing, family B (evectins) member 2	197						endosome (GO:0005768)|membrane (GO:0016020)				large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				BRCA - Breast invasive adenocarcinoma(221;0.0828)		ATCGAGACAACGACAGCGACC	0.527																																																0			2											174.0	179.0	177.0					2																	131904268		2203	4300	6503	131620738	SO:0001583	missense	55041				CCDS2166.1, CCDS46413.1, CCDS58729.1, CCDS58730.1, CCDS74576.1, CCDS74577.1	2q22.1	2013-01-10			ENSG00000115762	ENSG00000115762		"""Pleckstrin homology (PH) domain containing"""	19236	protein-coding gene	gene with protein product						10200314	Standard	NM_017958		Approved	EVT2, FLJ20783	uc031rpd.1	Q96CS7	OTTHUMG00000131656	ENST00000403716.1:c.591C>G	2.37:g.131904268C>G	ENSP00000385892:p.Asn197Lys		131620738	B4DF08|B4DZ66|B8ZZN1|Q53FF1|Q53TH7|Q86W37|Q9BV75|Q9NWK1	Missense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233	p.N197K	ENST00000403716.1	37	c.591	CCDS46413.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.58|13.58	2.279698|2.279698	0.40294|0.40294	.|.	.|.	ENSG00000115762|ENSG00000115762	ENST00000409158;ENST00000403716;ENST00000234115;ENST00000538982;ENST00000409612;ENST00000409279|ENST00000439822;ENST00000438882	.|.	.|.	.|.	5.59|5.59	-2.47|-2.47	0.06442|0.06442	.|.	.|.	.|.	.|.	.|.	T|T	0.52435|0.52435	0.1734|0.1734	L|L	0.60455|0.60455	1.87|1.87	0.37332|0.37332	D|D	0.910021|0.910021	B;B;B;B|P;P	0.33583|0.39847	0.22;0.327;0.22;0.418|0.691;0.662	B;B;B;B|B;B	0.35114|0.40741	0.096;0.196;0.096;0.096|0.339;0.174	T|T	0.55742|0.55742	-0.8093|-0.8093	8|8	0.59425|0.56958	D|D	0.04|0.05	.|.	11.99|11.99	0.53169|0.53169	0.0:0.3349:0.0:0.6651|0.0:0.3349:0.0:0.6651	.|.	196;196;197;205|153;161	Q53FF1;Q96CS7-3;Q96CS7;B8ZZN1|B4DZ66;B4DF08	.;.;PKHB2_HUMAN;.|.;.	K|R	205;197;196;149;197;197|153;161	.|.	ENSP00000234115:N196K|ENSP00000401193:T161R	N|T	+|+	3|2	2|0	PLEKHB2|PLEKHB2	131620738|131620738	0.045000|0.045000	0.20229|0.20229	0.037000|0.037000	0.18230|0.18230	0.900000|0.900000	0.52787|0.52787	-0.958000|-0.958000	0.03857|0.03857	-0.902000|-0.902000	0.03886|0.03886	-0.162000|-0.162000	0.13425|0.13425	AAC|ACG	-	NULL		0.527	PLEKHB2-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHB2	protein_coding	OTTHUMT00000331304.2	C	NM_017958		131620738	+1	no_errors	NM_001100623	genbank	human	validated	54_36p	missense	SNP	0.863	G
ENPP1	5167	genome.wustl.edu	37	6	132171147	132171147	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:132171147C>T	ENST00000360971.2	+	3	351	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	111	SMB 1. {ECO:0000255|PROSITE- ProRule:PRU00350}.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)	p.R59C(1)		autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTGCAAAGGTCGCTGTTTCGA	0.383																																					Colon(104;336 1535 5856 11019 33782)											1	Substitution - Missense(1)	ovary(1)	6											128.0	122.0	124.0					6																	132171147		2203	4300	6503	132212840	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.331C>T	6.37:g.132171147C>T	ENSP00000354238:p.Arg111Cys		132212840	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain,PatternScan_SMB_1,superfamily_Alkaline phosphatase-like,HMMPfam_Phosphodiest,superfamily_His-Me finger endonucleases,HMMSmart_SM00477	p.R59C	ENST00000360971.2	37	c.175	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	C	22.8	4.333520	0.81801	.	.	ENSG00000197594	ENST00000360971	T	0.63255	-0.03	5.16	5.16	0.70880	Somatomedin B domain (3);Somatomedin B, chordata (1);	0.000000	0.64402	D	0.000002	T	0.81635	0.4864	M	0.91038	3.17	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.85706	0.1316	10	0.87932	D	0	-16.9205	17.7963	0.88572	0.0:1.0:0.0:0.0	.	111	P22413	ENPP1_HUMAN	C	111	ENSP00000354238:R111C	ENSP00000354238:R111C	R	+	1	0	ENPP1	132212840	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.031000	0.64134	2.563000	0.86464	0.650000	0.86243	CGC	-	HMMSmart_SM00201,HMMPfam_Somatomedin_B,superfamily_Somatomedin B domain		0.383	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	protein_coding	OTTHUMT00000042238.2	C			132212840	+1	no_errors	NM_006208	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	X	134315184	134315184	+	IGR	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chrX:134315184C>A								CXorf48 (9862 upstream) : AL590282.1 (25307 downstream)																							GGCACAAAATCTAAAACAGCC	0.388																																																0			X																																								134142850	SO:0001628	intergenic_variant	0																															X.37:g.134315184C>A			134142850		Splice_Site	SNP	-	NULL		37	c.NULL		X																																																																																			-	-	0	0.388					ENSG00000216965			C			134142850	-1	no_coding_region:pseudogene	ENST00000402156	ensembl	human	known	54_36p	splice_site	SNP	0.033	A
SLC4A9	83697	genome.wustl.edu	37	5	139740335	139740335	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:139740335T>C	ENST00000230993.6	+	2	276	c.241T>C	c.(241-243)Tct>Cct	p.S81P	CTC-329D1.3_ENST00000520443.1_RNA|SLC4A9_ENST00000507527.1_Missense_Mutation_p.S81P|SLC4A9_ENST00000506757.2_Intron|SLC4A9_ENST00000506545.1_Intron|SLC4A9_ENST00000432095.2_Intron	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	81					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCTGCATCTCTGCTCCT	0.572																																																0			5																																								139720519	SO:0001583	missense	83697			AF313465	CCDS47278.1, CCDS58973.1, CCDS58974.1, CCDS58975.1	5q31.3	2013-05-22			ENSG00000113073	ENSG00000113073		"""Solute carriers"""	11035	protein-coding gene	gene with protein product		610207				11305939	Standard	NM_031467		Approved	AE4	uc003lfk.2	Q96Q91	OTTHUMG00000163352	ENST00000230993.6:c.241T>C	5.37:g.139740335T>C	ENSP00000230993:p.Ser81Pro		139720519	B7ZL63|D3DQD4|D3DQD5|D3DQD6|E9PDK1|Q96RM5|Q9BXF2|Q9BXN3	Missense_Mutation	SNP	superfamily_Phoshotransferase/anion transport protein,HMMPfam_Band_3_cyto,HMMPfam_HCO3_cotransp	p.S81P	ENST00000230993.6	37	c.241	CCDS58973.1	5	.	.	.	.	.	.	.	.	.	.	T	12.14	1.849713	0.32699	.	.	ENSG00000113073	ENST00000230993;ENST00000507527	T;T	0.79749	-1.3;-1.3	4.14	0.222	0.15288	Bicarbonate transporter, cytoplasmic (1);Phosphotransferase/anion transporter (1);	1.295500	0.05707	N	0.595103	T	0.69566	0.3125	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.55792	-0.8085	9	0.66056	D	0.02	.	3.8981	0.09149	0.0:0.308:0.189:0.503	.	81	Q96Q91	B3A4_HUMAN	P	81	ENSP00000230993:S81P;ENSP00000427661:S81P	ENSP00000230993:S81P	S	+	1	0	SLC4A9	139720519	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-0.816000	0.04477	-0.035000	0.13691	0.459000	0.35465	TCT	-	superfamily_Phoshotransferase/anion transport protein		0.572	SLC4A9-201	KNOWN	basic|CCDS	protein_coding	SLC4A9	protein_coding	OTTHUMT00000372823.1	T	NM_031467		139720519	+1	no_errors	ENST00000230993	ensembl	human	known	54_36p	missense	SNP	0.000	C
PCDHB10	56126	genome.wustl.edu	37	5	140572276	140572276	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:140572276G>A	ENST00000239446.4	+	1	335	c.151G>A	c.(151-153)Gat>Aat	p.D51N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	51	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTGGCAAAGGATCTGGGACT	0.493																																																0			5											37.0	41.0	39.0					5																	140572276		2114	4246	6360	140552460	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.151G>A	5.37:g.140572276G>A	ENSP00000239446:p.Asp51Asn		140552460	Q96T99	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA	p.D51N	ENST00000239446.4	37	c.151	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.429216	0.83776	.	.	ENSG00000120324	ENST00000239446	T	0.61627	0.09	3.35	3.35	0.38373	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.82093	0.4962	H	0.95043	3.615	0.44745	D	0.99774	D	0.89917	1.0	D	0.97110	1.0	D	0.88237	0.2907	9	0.72032	D	0.01	.	15.0182	0.71605	0.0:0.0:1.0:0.0	.	51	Q9UN67	PCDBA_HUMAN	N	51	ENSP00000239446:D51N	ENSP00000239446:D51N	D	+	1	0	PCDHB10	140552460	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.415000	0.73328	1.925000	0.55765	0.549000	0.68633	GAT	-	HMMPfam_Cadherin_2,superfamily_Cadherin		0.493	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	protein_coding	OTTHUMT00000251821.1	G	NM_018930		140552460	+1	no_errors	NM_018930	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CLCN1	1180	genome.wustl.edu	37	7	143029567	143029567	+	Missense_Mutation	SNP	C	C	G	rs202019723		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:143029567C>G	ENST00000343257.2	+	11	1309	c.1222C>G	c.(1222-1224)Cca>Gca	p.P408A		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	408					chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|neuronal action potential propagation (GO:0019227)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	adenyl nucleotide binding (GO:0030554)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CACCTTCCCACCAGGAATGGG	0.483																																																0			7	GRCh37	CM076097	CLCN1	M		C	ALA/PRO	1,4405	2.1+/-5.4	0,1,2202	151.0	139.0	143.0		1222	5.3	1.0	7		143	0,8600		0,0,4300	no	missense	CLCN1	NM_000083.2	27	0,1,6502	GG,GC,CC		0.0,0.0227,0.0077	benign	408/989	143029567	1,13005	2203	4300	6503	142739689	SO:0001583	missense	1180			Z25884	CCDS5881.1	7q12	2012-09-26	2012-02-23		ENSG00000188037	ENSG00000188037		"""Ion channels / Chloride channels : Voltage-sensitive"""	2019	protein-coding gene	gene with protein product	"""Thomsen disease, autosomal dominant"""	118425	"""chloride channel 1, skeletal muscle"""			1379744	Standard	NM_000083		Approved	CLC1, ClC-1	uc003wcr.1	P35523	OTTHUMG00000152695	ENST00000343257.2:c.1222C>G	7.37:g.143029567C>G	ENSP00000339867:p.Pro408Ala		142739689	A4D2H5|Q2M202	Missense_Mutation	SNP	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC,superfamily_CBS-domain,HMMPfam_CBS	p.P408A	ENST00000343257.2	37	c.1222	CCDS5881.1	7	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594771	0.86953	2.27E-4	0.0	ENSG00000188037	ENST00000343257	D	0.93247	-3.19	5.29	5.29	0.74685	Chloride channel, core (2);	0.000000	0.85682	D	0.000000	D	0.95105	0.8414	L	0.53617	1.68	0.51012	D	0.999906	D	0.89917	1.0	D	0.79784	0.993	D	0.92233	0.5794	10	0.08599	T	0.76	.	18.9352	0.92583	0.0:1.0:0.0:0.0	.	408	P35523	CLCN1_HUMAN	A	408	ENSP00000339867:P408A	ENSP00000339867:P408A	P	+	1	0	CLCN1	142739689	0.999000	0.42202	1.000000	0.80357	0.996000	0.88848	5.689000	0.68234	2.476000	0.83614	0.643000	0.83706	CCA	-	superfamily_Clc chloride channel,HMMPfam_Voltage_CLC		0.483	CLCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCN1	protein_coding	OTTHUMT00000327420.1	C	NM_000083		142739689	+1	no_errors	NM_000083	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
PLEC	5339	genome.wustl.edu	37	8	144997783	144997783	+	Missense_Mutation	SNP	G	G	A	rs74772299	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr8:144997783G>A	ENST00000322810.4	-	31	6894	c.6725C>T	c.(6724-6726)gCg>gTg	p.A2242V	PLEC_ENST00000354958.2_Missense_Mutation_p.A2083V|PLEC_ENST00000345136.3_Missense_Mutation_p.A2105V|PLEC_ENST00000356346.3_Missense_Mutation_p.A2091V|PLEC_ENST00000398774.2_Missense_Mutation_p.A2073V|PLEC_ENST00000436759.2_Missense_Mutation_p.A2132V|PLEC_ENST00000357649.2_Missense_Mutation_p.A2109V|PLEC_ENST00000354589.3_Missense_Mutation_p.A2105V|PLEC_ENST00000527096.1_Missense_Mutation_p.A2128V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2242	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGGACTGCGCCGCCTCACG	0.756													G|||	327	0.0652955	0.0015	0.1354	5008	,	,		9813	0.0437		0.0368	False		,,,				2504	0.1534															0			8						G	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	31,3509		0,31,1739	5.0	7.0	6.0		6314,6326,6314,6218,6725,6248,6272,6395	2.9	0.0	8	dbSNP_131	6	285,7369		1,283,3543	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_201384.1,NM_201383.1,NM_201382.2,NM_201381.1,NM_201380.2,NM_201379.1,NM_201378.2,NM_000445.3	64,64,64,64,64,64,64,64	1,314,5282	AA,AG,GG		3.7235,0.8757,2.8229	benign,benign,benign,benign,benign,benign,benign,benign	2105/4548,2109/4552,2105/4548,2073/4516,2242/4685,2083/4526,2091/4534,2132/4575	144997783	316,10878	1770	3827	5597	145069771	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6725C>T	8.37:g.144997783G>A	ENSP00000323856:p.Ala2242Val		145069771	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	HMMPfam_S10_plectin,superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,superfamily_Plakin repeat,HMMSmart_SM00250,HMMPfam_Plectin	p.A2242V	ENST00000322810.4	37	c.6725	CCDS43772.1	8	90	0.04120879120879121	1	0.0020325203252032522	43	0.11878453038674033	20	0.03496503496503497	26	0.03430079155672823	G	7.181	0.589567	0.13812	0.008757	0.037235	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77750	-1.09;-1.09;-1.12;-1.12;-1.1;-1.09;-1.08;-1.09;-1.09	4.76	2.93	0.34026	.	0.181251	0.33110	U	0.005270	T	0.02230	0.0069	L	0.57536	1.79	0.09310	N	1	B;B;B;B;B;B;B;B	0.28971	0.229;0.229;0.229;0.147;0.229;0.229;0.229;0.229	B;B;B;B;B;B;B;B	0.24269	0.052;0.052;0.052;0.023;0.052;0.052;0.052;0.052	T	0.06917	-1.0800	10	0.44086	T	0.13	.	5.8336	0.18594	0.0785:0.1365:0.644:0.141	.	2132;2091;2083;2242;2073;2105;2109;2105	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	V	2105;2109;2105;2073;2242;2083;2091;2132;2128	ENSP00000344848:A2105V;ENSP00000350277:A2109V;ENSP00000346602:A2105V;ENSP00000381756:A2073V;ENSP00000323856:A2242V;ENSP00000347044:A2083V;ENSP00000348702:A2091V;ENSP00000388180:A2132V;ENSP00000434583:A2128V	ENSP00000323856:A2242V	A	-	2	0	PLEC	145069771	0.093000	0.21703	0.001000	0.08648	0.634000	0.38068	2.548000	0.45794	0.419000	0.25927	0.448000	0.29417	GCG	-	NULL		0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC1	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145069771	-1	no_errors	NM_201380	genbank	human	reviewed	54_36p	missense	SNP	0.050	A
WASH6P	653440	genome.wustl.edu	37	X	155254760	155254760	+	RNA	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chrX:155254760G>A	ENST00000461007.1	+	0	3676				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)										GTCATGAGGCGCAAGGGTAGG	0.582																																																0			X																																								154907954			0			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.155254760G>A			154907954	A6NGF1|Q8N305	Missense_Mutation	SNP	NULL	p.R433H	ENST00000461007.1	37	c.1298		X	.	.	.	.	.	.	.	.	.	.	g	16.42	3.118982	0.56505	.	.	ENSG00000182484	ENST00000359512;ENST00000285718	.	.	.	0.379	0.379	0.16213	.	0.000000	0.85682	D	0.000000	T	0.37237	0.0996	.	.	.	0.09310	N	0.999996	.	.	.	.	.	.	T	0.23547	-1.0185	6	0.54805	T	0.06	-10.7095	6.473	0.22020	2.0E-4:0.0:0.9998:0.0	.	.	.	.	H	433;402	.	ENSP00000285718:R402H	R	+	2	0	WASH6P	154907954	1.000000	0.71417	0.763000	0.31416	0.182000	0.23217	3.480000	0.53172	0.418000	0.25898	0.171000	0.16805	CGC	-	NULL		0.582	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	pseudogene	OTTHUMT00000058840.1	G	NG_008380		154907954	+1	no_errors	ENST00000359512	ensembl	human	known	54_36p	missense	SNP	1.000	A
FCRL5	83416	genome.wustl.edu	37	1	157488273	157488273	+	Missense_Mutation	SNP	C	C	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:157488273C>G	ENST00000361835.3	-	15	2915	c.2758G>C	c.(2758-2760)Gaa>Caa	p.E920Q	FCRL5_ENST00000356953.4_Missense_Mutation_p.E920Q|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	920					negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)				breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACCACATTTTCTCCTCTAGGA	0.448																																																0			1											192.0	183.0	186.0					1																	157488273		2203	4300	6503	155754897	SO:0001583	missense	83416			AF369794	CCDS1165.1	1q21	2013-01-11			ENSG00000143297	ENSG00000143297		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18508	protein-coding gene	gene with protein product		605877				11027651, 11290337	Standard	NM_031281		Approved	FCRH5, IRTA2, BXMAS1, CD307e	uc009wsm.3	Q96RD9	OTTHUMG00000017481	ENST00000361835.3:c.2758G>C	1.37:g.157488273C>G	ENSP00000354691:p.Glu920Gln		155754897	A0N0M2|B7WNT9|B7WP94|Q495Q2|Q495Q4|Q5VYK9|Q6UY46	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig	p.E920Q	ENST00000361835.3	37	c.2758	CCDS1165.1	1	.	.	.	.	.	.	.	.	.	.	C	10.52	1.373654	0.24857	.	.	ENSG00000143297	ENST00000361835;ENST00000356953	T;T	0.47869	0.83;0.84	5.04	-0.316	0.12743	.	7739.210000	0.00166	N	0.000000	T	0.15305	0.0369	.	.	.	0.09310	N	1	P	0.38978	0.652	B	0.36504	0.226	T	0.08166	-1.0735	9	0.27785	T	0.31	.	7.7375	0.28823	0.0:0.4947:0.0:0.5053	.	920	Q96RD9	FCRL5_HUMAN	Q	920	ENSP00000354691:E920Q;ENSP00000349434:E920Q	ENSP00000349434:E920Q	E	-	1	0	FCRL5	155754897	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.341000	0.07811	0.016000	0.14998	0.655000	0.94253	GAA	-	NULL		0.448	FCRL5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL5	protein_coding	OTTHUMT00000046263.1	C	NM_031281		155754897	-1	no_errors	NM_031281	genbank	human	validated	54_36p	missense	SNP	0.000	G
PTPRN2	5799	genome.wustl.edu	37	7	157475568	157475568	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr7:157475568G>A	ENST00000389418.4	-	13	1859	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	PTPRN2_ENST00000404321.2_Missense_Mutation_p.A640V|PTPRN2_ENST00000389416.4_Missense_Mutation_p.A600V|PTPRN2_ENST00000409483.1_Missense_Mutation_p.A579V|PTPRN2_ENST00000389413.3_Missense_Mutation_p.A588V	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	617					negative regulation of GTPase activity (GO:0034260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	endoplasmic reticulum lumen (GO:0005788)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)|secretory granule (GO:0030141)|terminal bouton (GO:0043195)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CAGGGTGAGCGCGATGAACTT	0.582																																																0			7											112.0	114.0	113.0					7																	157475568		2203	4300	6503	157168329	SO:0001583	missense	5799			AB002385	CCDS5947.1, CCDS5948.1, CCDS5949.1	7q36	2011-06-09			ENSG00000155093	ENSG00000155093		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9677	protein-coding gene	gene with protein product	"""IAR PTPRP"""	601698				8954911, 9220540	Standard	NM_130842		Approved	KIAA0387, phogrin, ICAAR, IA-2beta	uc003wno.3	Q92932	OTTHUMG00000152646	ENST00000389418.4:c.1850C>T	7.37:g.157475568G>A	ENSP00000374069:p.Ala617Val		157168329	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Missense_Mutation	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.A617V	ENST00000389418.4	37	c.1850	CCDS5947.1	7	.	.	.	.	.	.	.	.	.	.	G	3.332	-0.136375	0.06711	.	.	ENSG00000155093	ENST00000409483;ENST00000389413;ENST00000389416;ENST00000389418;ENST00000404321	T;T;T;T;T	0.02737	4.2;4.18;4.2;4.2;4.19	4.73	3.58	0.41010	.	0.650367	0.12584	N	0.456142	T	0.00906	0.0030	N	0.00268	-1.735	0.29140	N	0.879094	B;B;B;B;B	0.16802	0.019;0.004;0.014;0.002;0.004	B;B;B;B;B	0.06405	0.0;0.0;0.002;0.0;0.0	T	0.40478	-0.9561	10	0.13108	T	0.6	.	9.5277	0.39173	0.9144:0.0:0.0856:0.0	.	640;579;588;600;617	Q92932-3;E7EM83;Q92932-2;E9PC57;Q92932	.;.;.;.;PTPR2_HUMAN	V	579;588;600;617;640	ENSP00000387114:A579V;ENSP00000374064:A588V;ENSP00000374067:A600V;ENSP00000374069:A617V;ENSP00000385464:A640V	ENSP00000374064:A588V	A	-	2	0	PTPRN2	157168329	1.000000	0.71417	0.429000	0.26710	0.241000	0.25554	6.613000	0.74192	0.655000	0.30866	-0.302000	0.09304	GCG	-	NULL		0.582	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	G			157168329	-1	no_errors	NM_002847	genbank	human	reviewed	54_36p	missense	SNP	0.972	A
TBR1	10716	genome.wustl.edu	37	2	162283840	162283840	+	IGR	SNP	G	G	T	rs76712264	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:162283840G>T	ENST00000389554.3	+	0	4009				AC009487.5_ENST00000505579.1_RNA	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1						axon guidance (GO:0007411)|brain development (GO:0007420)|hindbrain development (GO:0030902)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of neuron projection development (GO:0010975)|specification of organ identity (GO:0010092)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						AAAAGAGTCGGTGTCATGTGC	0.602													G|||	77	0.0153754	0.0023	0.0274	5008	,	,		13050	0.0		0.0487	False		,,,				2504	0.0061															0			2																																								161992086	SO:0001628	intergenic_variant	0			U49250	CCDS33310.1	2q24.2	2011-06-13			ENSG00000136535	ENSG00000136535		"""T-boxes"""	11590	protein-coding gene	gene with protein product		604616				7619531	Standard	NM_006593		Approved		uc002ubw.1	Q16650	OTTHUMG00000153888		2.37:g.162283840G>T			161992086	B0AZS4|B2R6G5|Q14DC5|Q53TH0|Q56A81	Missense_Mutation	SNP	NULL	p.P3T	ENST00000389554.3	37	c.7	CCDS33310.1	2																																																																																			-	NULL		0.602	TBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100130897	protein_coding	OTTHUMT00000332845.1	G	NM_006593		161992086	-1	no_errors	XM_001715939	genbank	human	model	54_36p	missense	SNP	0.001	T
HMMR	3161	genome.wustl.edu	37	5	162898429	162898429	+	Missense_Mutation	SNP	G	G	A	rs201965952	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:162898429G>A	ENST00000358715.3	+	7	643	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	HMMR_ENST00000353866.3_Missense_Mutation_p.E188K|HMMR_ENST00000393915.4_Missense_Mutation_p.E204K|HMMR_ENST00000432118.2_Missense_Mutation_p.E117K			O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	203					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|membrane (GO:0016020)|plasma membrane (GO:0005886)	hyaluronic acid binding (GO:0005540)			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)	Hyaluronan(DB08818)	AAGGAGTCTCGAAGAGTCTCA	0.418													G|||	2	0.000399361	0.0008	0.0	5008	,	,		19907	0.001		0.0	False		,,,				2504	0.0															0			5						G	LYS/GLU,LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	78.0	78.0	78.0		610,349,607,562	0.7	0.0	5		78	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense,missense,missense	HMMR	NM_001142556.1,NM_001142557.1,NM_012484.2,NM_012485.2	56,56,56,56	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	benign,benign,benign,benign	204/726,117/639,203/725,188/710	162898429	3,13003	2203	4300	6503	162831007	SO:0001583	missense	3161			U29343	CCDS4362.1, CCDS4363.1, CCDS47334.1, CCDS47335.1	5q34	2013-09-19			ENSG00000072571	ENSG00000072571		"""CD molecules"""	5012	protein-coding gene	gene with protein product		600936					Standard	NM_001142556		Approved	RHAMM, CD168	uc003lzh.3	O75330	OTTHUMG00000130381	ENST00000358715.3:c.607G>A	5.37:g.162898429G>A	ENSP00000351554:p.Glu203Lys		162831007	A8K3G2|B4E114|D3DQK9|D3DQL0|E9PCS0|Q32N02|Q92767	Missense_Mutation	SNP	NULL	p.E203K	ENST00000358715.3	37	c.607	CCDS4362.1	5	.	.	.	.	.	.	.	.	.	.	G	2.601	-0.292990	0.05568	0.0	3.49E-4	ENSG00000072571	ENST00000416990;ENST00000520345;ENST00000522094;ENST00000353866;ENST00000434157;ENST00000393915;ENST00000426586;ENST00000432118;ENST00000358715	T;T;T;T;T	0.81247	2.92;-1.39;-1.39;3.09;-1.47	5.66	0.718	0.18202	.	1.114760	0.06532	N	0.741734	T	0.71753	0.3377	L	0.46157	1.445	0.09310	N	1	B;B;B;B	0.13594	0.008;0.004;0.003;0.003	B;B;B;B	0.09377	0.004;0.001;0.001;0.001	T	0.49370	-0.8947	10	0.09590	T	0.72	-0.1513	8.9631	0.35860	0.2288:0.2902:0.4811:0.0	.	117;204;188;203	O75330-4;O75330-3;O75330-2;O75330	.;.;.;HMMR_HUMAN	K	89;89;89;188;188;204;180;117;203	ENSP00000400527:E89K;ENSP00000185942:E188K;ENSP00000377492:E204K;ENSP00000402673:E117K;ENSP00000351554:E203K	ENSP00000185942:E188K	E	+	1	0	HMMR	162831007	0.000000	0.05858	0.000000	0.03702	0.199000	0.23934	0.245000	0.18142	-0.169000	0.10834	-0.880000	0.02959	GAA	-	NULL		0.418	HMMR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HMMR	protein_coding	OTTHUMT00000252752.1	G	NM_012484		162831007	+1	no_errors	NM_012484	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
KCNH7	90134	genome.wustl.edu	37	2	163302643	163302643	+	Missense_Mutation	SNP	T	T	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:163302643T>C	ENST00000332142.5	-	7	1538	c.1439A>G	c.(1438-1440)gAa>gGa	p.E480G	KCNH7_ENST00000328032.4_Missense_Mutation_p.E473G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	480					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	ACTTACCACTTCTTCATTCTG	0.353																																					GBM(196;1492 2208 17507 24132 45496)											0			2											127.0	114.0	118.0					2																	163302643		2203	4300	6503	163010889	SO:0001583	missense	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.1439A>G	2.37:g.163302643T>C	ENSP00000331727:p.Glu480Gly		163010889	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Missense_Mutation	SNP	superfamily_PYP-like sensor domain (PAS domain),superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans,superfamily_cAMP-binding domain-like,HMMSmart_SM00100,HMMPfam_cNMP_binding	p.E480G	ENST00000332142.5	37	c.1439	CCDS2219.1	2	.	.	.	.	.	.	.	.	.	.	T	25.1	4.607614	0.87157	.	.	ENSG00000184611	ENST00000332142;ENST00000328032	D;D	0.95377	-3.69;-3.69	5.7	5.7	0.88788	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98359	0.9455	H	0.94886	3.595	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.78314	0.991;0.99	D	0.99612	1.0981	10	0.87932	D	0	.	15.9661	0.79970	0.0:0.0:0.0:1.0	.	473;480	Q9NS40-2;Q9NS40	.;KCNH7_HUMAN	G	480;473	ENSP00000331727:E480G;ENSP00000333781:E473G	ENSP00000333781:E473G	E	-	2	0	KCNH7	163010889	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.182000	0.69389	0.528000	0.53228	GAA	-	superfamily_Voltage-gated potassium channels,HMMPfam_Ion_trans		0.353	KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH7	protein_coding	OTTHUMT00000255093.1	T	NM_033272		163010889	-1	no_errors	NM_033272	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
GPR31	2853	genome.wustl.edu	37	6	167570885	167570885	+	Silent	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:167570885G>A	ENST00000366834.1	-	1	932	c.435C>T	c.(433-435)ctC>ctT	p.L145L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	145					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CCGGGCAGGTGAGGGCGACCA	0.647																																																0			6											51.0	60.0	57.0					6																	167570885		2203	4300	6503	167490875	SO:0001819	synonymous_variant	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.435C>T	6.37:g.167570885G>A			167490875	B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.L145	ENST00000366834.1	37	c.435	CCDS5299.1	6																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.647	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	protein_coding	OTTHUMT00000043111.1	G	NM_005299		167490875	-1	no_errors	NM_005299	genbank	human	validated	54_36p	silent	SNP	0.010	A
ERGIC1	57222	genome.wustl.edu	37	5	172336689	172336689	+	Missense_Mutation	SNP	G	G	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:172336689G>A	ENST00000393784.3	+	4	314	c.175G>A	c.(175-177)Gat>Aat	p.D59N	ERGIC1_ENST00000523291.1_Missense_Mutation_p.D59N|ERGIC1_ENST00000326654.2_Missense_Mutation_p.D14N	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	59					ER to Golgi vesicle-mediated transport (GO:0006888)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCTCTATGTCGATGACCCAGA	0.547																																																0			5											228.0	173.0	192.0					5																	172336689		2203	4300	6503	172269295	SO:0001583	missense	57222			AF267855	CCDS34292.1	5q35.1	2009-11-06			ENSG00000113719	ENSG00000113719			29205	protein-coding gene	gene with protein product						10574461, 15308636	Standard	NM_001031711		Approved	ERGIC32, ERGIC-32, KIAA1181, NET24	uc003mbw.4	Q969X5	OTTHUMG00000130520	ENST00000393784.3:c.175G>A	5.37:g.172336689G>A	ENSP00000377374:p.Asp59Asn		172269295	Q9H0L0|Q9H2J2|Q9ULN9	Missense_Mutation	SNP	HMMPfam_DUF1692	p.D59N	ENST00000393784.3	37	c.175	CCDS34292.1	5	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968477	0.92855	.	.	ENSG00000113719	ENST00000393784;ENST00000520326;ENST00000523291;ENST00000518247;ENST00000326654	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.86083	0.5848	M	0.92169	3.28	0.80722	D	1	D;D	0.89917	1.0;0.996	D;P	0.75020	0.985;0.767	D	0.89632	0.3856	9	0.72032	D	0.01	-14.0036	18.18	0.89775	0.0:0.0:1.0:0.0	.	14;59	Q969X5-3;Q969X5	.;ERGI1_HUMAN	N	59;59;59;14;14	.	ENSP00000325127:D14N	D	+	1	0	ERGIC1	172269295	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	9.543000	0.98089	2.358000	0.79984	0.563000	0.77884	GAT	-	NULL		0.547	ERGIC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERGIC1	protein_coding	OTTHUMT00000252938.3	G	NM_020462		172269295	+1	no_errors	NM_001031711	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NCEH1	57552	genome.wustl.edu	37	3	172428818	172428818	+	5'UTR	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:172428818G>C	ENST00000475381.1	-	0	190				NCEH1_ENST00000543711.1_5'UTR|NCEH1_ENST00000273512.3_Missense_Mutation_p.P18R|NCEH1_ENST00000538775.1_Missense_Mutation_p.P18R			Q6PIU2	NCEH1_HUMAN	neutral cholesterol ester hydrolase 1						lipid catabolic process (GO:0016042)|protein dephosphorylation (GO:0006470)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carboxylic ester hydrolase activity (GO:0052689)|phosphate ion binding (GO:0042301)|serine hydrolase activity (GO:0017171)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15						AAGAGGAAAGGGCGATACCAC	0.637											OREG0015927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			3											37.0	38.0	37.0					3																	172428818		2203	4300	6503	173911512	SO:0001623	5_prime_UTR_variant	57552			AB037784	CCDS54681.1, CCDS54682.1	3q26.31	2009-07-23	2009-07-23	2009-07-23	ENSG00000144959	ENSG00000144959			29260	protein-coding gene	gene with protein product		613234	"""arylacetamide deacetylase-like 1"""	AADACL1		10718198	Standard	NM_001146276		Approved	KIAA1363, NCEH	uc011bpx.2	Q6PIU2	OTTHUMG00000156872	ENST00000475381.1:c.-44C>G	3.37:g.172428818G>C		1900	173911512	B7Z2K4|B7Z3A1|B7Z5U2|B7Z906|B7ZAW6|F5H7K4|Q86WZ1|Q9P2I4	Missense_Mutation	SNP	superfamily_alpha/beta-Hydrolases,HMMPfam_Abhydrolase_3,PatternScan_LIPASE_GDXG_SER	p.P18R	ENST00000475381.1	37	c.53		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.885|6.885	0.532717|0.532717	0.13127|0.13127	.|.	.|.	ENSG00000144959|ENSG00000144959	ENST00000424772|ENST00000538775;ENST00000273512	T|T;T	0.10763|0.05447	2.84|3.44;3.44	4.44|4.44	-2.12|-2.12	0.07165|0.07165	.|.	2.078290|2.078290	0.02327|0.02327	N|N	0.073592|0.073592	T|T	0.03178|0.03178	0.0093|0.0093	N|N	0.08118|0.08118	0|0	0.20403|0.20403	N|N	0.999907|0.999907	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.37596|0.37596	-0.9699|-0.9699	8|10	0.35671|0.32370	T|T	0.21|0.25	1.6944|1.6944	1.0056|1.0056	0.01486|0.01486	0.3323:0.2522:0.2793:0.1362|0.3323:0.2522:0.2793:0.1362	.|.	.|18	.|F5H7K4	.|.	A|R	9|18	ENSP00000392934:P9A|ENSP00000442464:P18R;ENSP00000273512:P18R	ENSP00000392934:P9A|ENSP00000273512:P18R	P|P	-|-	1|2	0|0	NCEH1|NCEH1	173911512|173911512	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	0.494000|0.494000	0.22467|0.22467	-0.592000|-0.592000	0.05851|0.05851	-0.283000|-0.283000	0.09986|0.09986	CCT|CCC	-	NULL		0.637	NCEH1-001	KNOWN	basic|appris_principal	protein_coding	AADACL1	protein_coding	OTTHUMT00000346367.3	G	NM_020792		173911512	-1	no_errors	NM_020792	genbank	human	provisional	54_36p	missense	SNP	0.000	C
BTNL9	153579	genome.wustl.edu	37	5	180477302	180477302	+	Missense_Mutation	SNP	C	C	A			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr5:180477302C>A	ENST00000327705.9	+	4	900	c.669C>A	c.(667-669)agC>agA	p.S223R	BTNL9_ENST00000515271.1_Missense_Mutation_p.S154R|BTNL9_ENST00000376841.2_Missense_Mutation_p.S223R|BTNL9_ENST00000376842.3_Missense_Mutation_p.S223R	NM_152547.4	NP_689760.2	Q6UXG8	BTNL9_HUMAN	butyrophilin-like 9	223						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(10)|ovary(1)	19	all_cancers(89;2.45e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGCCCTCAGCAATGTGTCCG	0.547																																																0			5											114.0	114.0	114.0					5																	180477302		2203	4300	6503	180409908	SO:0001583	missense	153579			AK057097	CCDS4460.2	5q35.3	2014-01-14			ENSG00000165810	ENSG00000165810		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	24176	protein-coding gene	gene with protein product							Standard	NM_152547		Approved	FLJ32535, BTN8	uc003mmt.3	Q6UXG8	OTTHUMG00000133152	ENST00000327705.9:c.669C>A	5.37:g.180477302C>A	ENSP00000330200:p.Ser223Arg		180409908	A6NL42|Q6P660|Q96DM5	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMSmart_SM00406,HMMSmart_SM00589,HMMPfam_SPRY,HMMSmart_SM00449	p.S223R	ENST00000327705.9	37	c.669	CCDS4460.2	5	.	.	.	.	.	.	.	.	.	.	C	3.210	-0.161752	0.06502	.	.	ENSG00000165810	ENST00000376841;ENST00000327705;ENST00000376842;ENST00000376850;ENST00000515271	T;T;T;T	0.06687	3.27;3.27;3.27;3.27	4.68	-0.373	0.12516	.	0.579850	0.15605	N	0.253697	T	0.03095	0.0091	N	0.17631	0.505	0.09310	N	1	B;B	0.28783	0.222;0.002	B;B	0.23419	0.046;0.003	T	0.40478	-0.9561	10	0.05833	T	0.94	.	1.9768	0.03418	0.2713:0.4365:0.132:0.1602	.	154;223	B7Z4Y8;Q6UXG8	.;BTNL9_HUMAN	R	223;223;223;223;154	ENSP00000366037:S223R;ENSP00000330200:S223R;ENSP00000366038:S223R;ENSP00000427345:S154R	ENSP00000330200:S223R	S	+	3	2	BTNL9	180409908	0.000000	0.05858	0.045000	0.18777	0.014000	0.08584	-0.862000	0.04263	-0.175000	0.10725	-0.188000	0.12872	AGC	-	superfamily_Immunoglobulin		0.547	BTNL9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BTNL9	protein_coding	OTTHUMT00000157342.3	C	NM_152547		180409908	+1	no_errors	NM_152547	genbank	human	validated	54_36p	missense	SNP	0.008	A
PLCL1	5334	genome.wustl.edu	37	2	198949278	198949278	+	Missense_Mutation	SNP	C	C	T	rs373797233		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:198949278C>T	ENST00000428675.1	+	2	1435	c.1037C>T	c.(1036-1038)aCc>aTc	p.T346I	PLCL1_ENST00000437704.2_Missense_Mutation_p.T248I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	346					gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)	p.T248I(1)|p.T346I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CAAGGAGTCACCCATATCACC	0.393																																																2	Substitution - Missense(2)	urinary_tract(2)	2						C	ILE/THR	1,4405	2.1+/-5.4	0,1,2202	93.0	90.0	91.0		1037	4.1	1.0	2		91	0,8600		0,0,4300	no	missense	PLCL1	NM_006226.3	89	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	346/1096	198949278	1,13005	2203	4300	6503	198657523	SO:0001583	missense	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.1037C>T	2.37:g.198949278C>T	ENSP00000402861:p.Thr346Ile		198657523	Q3MJ90|Q53SD3|Q7Z3S3	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.T248I	ENST00000428675.1	37	c.743	CCDS2326.2	2	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334098	0.24253	2.27E-4	0.0	ENSG00000115896	ENST00000428675;ENST00000437704	T;T	0.44482	0.92;0.92	5.94	4.1	0.47936	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.583104	0.18381	N	0.142943	T	0.41627	0.1167	L	0.52573	1.65	0.44798	D	0.997804	B;B	0.22604	0.072;0.03	B;B	0.29353	0.101;0.101	T	0.14811	-1.0459	9	.	.	.	.	16.3285	0.82997	0.0:0.7322:0.2678:0.0	.	346;272	Q15111;B4DYZ4	PLCL1_HUMAN;.	I	346;248	ENSP00000402861:T346I;ENSP00000414138:T248I	.	T	+	2	0	PLCL1	198657523	0.997000	0.39634	0.992000	0.48379	0.960000	0.62799	4.086000	0.57664	0.800000	0.34041	0.561000	0.74099	ACC	-	superfamily_SSF47473,HMMPfam_efhand_like		0.393	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	C	NM_006226		198657523	+1	no_errors	NM_006226	genbank	human	provisional	54_36p	missense	SNP	0.954	T
TUBB8P8	102723626	genome.wustl.edu	37	3	197846828	197846828	+	IGR	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr3:197846828C>T								AC073135.3 (8391 upstream) : FAM157A (33292 downstream)																							GCATCCTGCCCTCGCCCAAGG	0.557																																																0			3																																								199331225	SO:0001628	intergenic_variant	0																															3.37:g.197846828C>T			199331225		RNA	SNP	-	NULL		37	NULL		3																																																																																			-	-	0	0.557					ENSG00000221452			C			199331225	-1	no_errors	ENST00000408525	ensembl	human	novel	54_36p	rna	SNP	1.000	T
SGOL2	151246	genome.wustl.edu	37	2	201399819	201399819	+	Silent	SNP	A	A	G			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:201399819A>G	ENST00000357799.4	+	3	332	c.234A>G	c.(232-234)gaA>gaG	p.E78E	SGOL2_ENST00000409203.3_Silent_p.E78E	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	78					meiotic sister chromatid cohesion, centromeric (GO:0051754)|mitotic cell cycle (GO:0000278)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)				NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTACAACTGAAAAGATGCTAT	0.308																																																0			2											66.0	61.0	62.0					2																	201399819		1802	4064	5866	201108064	SO:0001819	synonymous_variant	151246			AY094614	CCDS42796.1	2q33.2	2008-02-05			ENSG00000163535	ENSG00000163535			30812	protein-coding gene	gene with protein product		612425					Standard	NM_001160046		Approved	TRIPIN, FLJ25211	uc002uvw.2	Q562F6	OTTHUMG00000154535	ENST00000357799.4:c.234A>G	2.37:g.201399819A>G			201108064	Q53RR9|Q53T20|Q86XY4|Q8IWK2|Q8IZK1|Q8N1Q5|Q96LQ3	Silent	SNP	HMMPfam_Shugoshin_N	p.E78	ENST00000357799.4	37	c.234	CCDS42796.1	2																																																																																			-	HMMPfam_Shugoshin_N		0.308	SGOL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGOL2	protein_coding	OTTHUMT00000335834.1	A	NM_152524		201108064	+1	no_errors	NM_152524	genbank	human	provisional	54_36p	silent	SNP	1.000	G
CR1L	1379	genome.wustl.edu	37	1	207881609	207881609	+	Splice_Site	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:207881609G>C	ENST00000508064.2	+	10	1474		c.e10+1		CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like							cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)|receptor complex (GO:0043235)				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATTTGTCAACGtgagttgaaa	0.443																																																0			1											242.0	230.0	234.0					1																	207881609		1898	4112	6010	205948232	SO:0001630	splice_region_variant	1379			AY114160	CCDS44310.1	1q32.1	2008-02-05			ENSG00000197721	ENSG00000197721		"""Complement system"""	2335	protein-coding gene	gene with protein product		605886				2295627	Standard	NM_175710		Approved		uc001hga.4	Q2VPA4	OTTHUMG00000036354	ENST00000508064.2:c.1414+1G>C	1.37:g.207881609G>C			205948232	Q32MC9|Q8NEU7	Splice_Site	SNP	-	e10+1	ENST00000508064.2	37	c.1414+1	CCDS44310.1	1	.	.	.	.	.	.	.	.	.	.	g	9.369	1.070107	0.20147	.	.	ENSG00000197721	ENST00000508064	.	.	.	1.67	1.67	0.24075	.	.	.	.	.	.	.	.	.	.	.	0.43110	D	0.994812	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.8536	0.24028	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CR1L	205948232	0.573000	0.26676	0.299000	0.25016	0.206000	0.24218	1.630000	0.37081	1.251000	0.43983	0.298000	0.19748	.	-	-		0.443	CR1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CR1L	protein_coding	OTTHUMT00000390247.1	G	XM_114735	Intron	205948232	+1	no_errors	NM_175710	genbank	human	validated	54_36p	splice_site	SNP	0.098	C
PCNXL2	80003	genome.wustl.edu	37	1	233122043	233122043	+	Missense_Mutation	SNP	C	C	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:233122043C>T	ENST00000258229.9	-	33	6269	c.6035G>A	c.(6034-6036)cGg>cAg	p.R2012Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R664Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	2012	Ser-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CGCCTCGGCCCGCTCACGGAC	0.682																																																0			1											9.0	12.0	11.0					1																	233122043		2020	4135	6155	231188666	SO:0001583	missense	80003			AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.6035G>A	1.37:g.233122043C>T	ENSP00000258229:p.Arg2012Gln		231188666	O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	PatternScan_DNAJ_1,HMMPfam_Pecanex_C	p.R2012Q	ENST00000258229.9	37	c.6035	CCDS44335.1	1	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860748	0.32884	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.22539	1.95;3.08	5.71	3.81	0.43845	.	0.236172	0.35235	N	0.003358	T	0.13243	0.0321	L	0.29908	0.895	0.80722	D	1	B;B	0.21452	0.056;0.03	B;B	0.08055	0.003;0.003	T	0.09840	-1.0656	10	0.15066	T	0.55	.	9.8242	0.40901	0.0:0.7882:0.0:0.2118	.	2012;664	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	Q	664;2012	ENSP00000340759:R664Q;ENSP00000258229:R2012Q	ENSP00000258229:R2012Q	R	-	2	0	PCNXL2	231188666	0.518000	0.26234	0.997000	0.53966	0.639000	0.38242	0.849000	0.27723	0.735000	0.32537	0.561000	0.74099	CGG	-	NULL		0.682	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNXL2	protein_coding	OTTHUMT00000092480.3	C	NM_014801		231188666	-1	no_errors	NM_014801	genbank	human	provisional	54_36p	missense	SNP	0.038	T
CHRM3	1131	genome.wustl.edu	37	1	240071315	240071315	+	Missense_Mutation	SNP	G	G	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:240071315G>C	ENST00000255380.4	+	5	1343	c.564G>C	c.(562-564)atG>atC	p.M188I		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	188					cell proliferation (GO:0008283)|cellular protein modification process (GO:0006464)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|nervous system development (GO:0007399)|positive regulation of smooth muscle contraction (GO:0045987)|regulation of insulin secretion (GO:0050796)|regulation of vascular smooth muscle contraction (GO:0003056)|saliva secretion (GO:0046541)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|smooth muscle contraction (GO:0006939)	asymmetric synapse (GO:0032279)|axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|drug binding (GO:0008144)|G-protein coupled acetylcholine receptor activity (GO:0016907)|phosphatidylinositol phospholipase C activity (GO:0004435)|receptor activity (GO:0004872)			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Brompheniramine(DB00835)|Cevimeline(DB00185)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxepin(DB01142)|Fesoterodine(DB06702)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Isopropamide(DB01625)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Mepenzolate(DB04843)|Methacholine(DB06709)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tramadol(DB00193)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	CCGGTGTGATGATCGGTCTGG	0.502																																																0			1											191.0	195.0	194.0					1																	240071315		2203	4300	6503	238137938	SO:0001583	missense	1131			U29589	CCDS1616.1	1q43	2012-09-20			ENSG00000133019	ENSG00000133019		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1952	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 3"""	118494					Standard	XM_005273032		Approved		uc001hyp.3	P20309	OTTHUMG00000039649	ENST00000255380.4:c.564G>C	1.37:g.240071315G>C	ENSP00000255380:p.Met188Ile		238137938	Q0VAJ8|Q4QRI3|Q5VXY2|Q9HB60	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.M188I	ENST00000255380.4	37	c.564	CCDS1616.1	1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407683	0.83340	.	.	ENSG00000133019	ENST00000255380	T	0.35605	1.3	5.9	5.9	0.94986	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.55417	0.1919	L	0.43757	1.38	0.80722	D	1	D	0.65815	0.995	D	0.70227	0.968	T	0.53308	-0.8457	10	0.72032	D	0.01	-30.8099	20.2789	0.98501	0.0:0.0:1.0:0.0	.	188	P20309	ACM3_HUMAN	I	188	ENSP00000255380:M188I	ENSP00000255380:M188I	M	+	3	0	CHRM3	238137938	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.869000	0.99810	2.788000	0.95919	0.650000	0.86243	ATG	-	superfamily_SSF81321,HMMPfam_7tm_1		0.502	CHRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM3	protein_coding	OTTHUMT00000095644.2	G	NM_000740		238137938	+1	no_errors	NM_000740	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
C1orf101	257044	genome.wustl.edu	37	1	244641231	244641231	+	Missense_Mutation	SNP	G	G	T			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:244641231G>T	ENST00000366534.4	+	4	266	c.212G>T	c.(211-213)tGt>tTt	p.C71F	C1orf101_ENST00000366533.4_Missense_Mutation_p.C71F|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_5'UTR	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	71						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GAATTGCGTTGTTCCTCACCT	0.323																																																0			1											135.0	126.0	129.0					1																	244641231		2203	4300	6503	242707854	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.212G>T	1.37:g.244641231G>T	ENSP00000355492:p.Cys71Phe		242707854	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.C71F	ENST00000366534.4	37	c.212	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683222	0.47991	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042	T;T;T	0.63096	0.42;0.41;-0.02	4.33	4.33	0.51752	.	0.000000	0.64402	D	0.000019	T	0.73385	0.3580	L	0.55481	1.735	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.75204	-0.3400	10	0.87932	D	0	.	12.64	0.56705	0.0:0.0:1.0:0.0	.	61;71;71	B1AQM6;Q5SY80;Q5SY80-2	.;CA101_HUMAN;.	F	71;71;71;61	ENSP00000355492:C71F;ENSP00000355491:C71F;ENSP00000395796:C61F	ENSP00000355491:C71F	C	+	2	0	C1orf101	242707854	0.868000	0.29978	0.130000	0.21974	0.127000	0.20565	3.658000	0.54482	2.689000	0.91719	0.591000	0.81541	TGT	-	NULL		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	protein_coding	OTTHUMT00000096701.1	G	NM_173807		242707854	+1	no_errors	NM_173807	genbank	human	validated	54_36p	missense	SNP	0.015	T
OTOP1	133060	genome.wustl.edu	37	4	4228274	4228282	+	In_Frame_Del	DEL	CCACAGCAG	CCACAGCAG	-	rs75328065|rs199840382|rs111245977|rs377667898|rs200554408|rs201436152	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	CCACAGCAG	CCACAGCAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr4:4228274_4228282delCCACAGCAG	ENST00000296358.4	-	1	334_342	c.310_318delCTGCTGTGG	c.(310-318)ctgctgtggdel	p.LLW104del		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	104					biomineral tissue development (GO:0031214)|detection of gravity (GO:0009590)|inner ear morphogenesis (GO:0042472)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)		p.L104_W106delLLW(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCACAGCATCCACAGCAGCTGCAGCAGC	0.727																																																1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	4																																								4279183	SO:0001651	inframe_deletion	133060			BK000653	CCDS3372.1	4p16.2	2008-02-05			ENSG00000163982	ENSG00000163982			19656	protein-coding gene	gene with protein product		607806				12651873	Standard	NM_177998		Approved		uc003ghp.1	Q7RTM1	OTTHUMG00000090301	ENST00000296358.4:c.310_318delCTGCTGTGG	4.37:g.4228274_4228282delCCACAGCAG	ENSP00000296358:p.Leu104_Trp106del		4279175	A1L476	In_Frame_Del	DEL	HMMPfam_DUF270	p.LLW104in_frame_del	ENST00000296358.4	37	c.318_310	CCDS3372.1	4																																																																																			(deletion:cds_exon[4279090,4279492])	NULL		0.727	OTOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOP1	protein_coding	OTTHUMT00000206661.2	CCACAGCAG	NM_177998		4279183	-1	no_errors	NM_177998	genbank	human	provisional	54_36p	in_frame_del	DEL	1.000:1.000:1.000:0.999:1.000:0.996:0.996:1.000:1.000	-
CRYBB1	1414	genome.wustl.edu	37	22	27008019	27008034	+	Splice_Site	DEL	CGCCGCCCAGTACTCA	CGCCGCCCAGTACTCA	-	rs371689083|rs57400078|rs116534812|rs372289191|rs200687318	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	CGCCGCCCAGTACTCA	CGCCGCCCAGTACTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr22:27008019_27008034delCGCCGCCCAGTACTCA	ENST00000215939.2	-	3	430		c.e3+1			NM_001887.3	NP_001878.1	P53674	CRBB1_HUMAN	crystallin, beta B1						visual perception (GO:0007601)		structural constituent of eye lens (GO:0005212)			breast(1)|endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(3)|skin(2)|urinary_tract(4)	31						TGTGCCCCTCCGCCGCCCAGTACTCACGGTCCCGCG	0.593																																																0			22																																								25338034	SO:0001630	splice_region_variant	1414				CCDS13840.1	22q12.1	2008-06-10			ENSG00000100122	ENSG00000100122			2397	protein-coding gene	gene with protein product		600929				8575764, 12360425	Standard	NM_001887		Approved		uc003acy.1	P53674	OTTHUMG00000150980	ENST00000215939.2:c.299+1TGAGTACTGGGCGGCG>-	22.37:g.27008019_27008034delCGCCGCCCAGTACTCA			25338019		Splice_Site	DEL	-	e2+2	ENST00000215939.2	37	c.299+2_299+1	CCDS13840.1	22																																																																																			(deletion:intron[25333986,25338035])	-		0.593	CRYBB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYBB1	protein_coding	OTTHUMT00000320767.1	CGCCGCCCAGTACTCA	NM_001887	Intron	25338034	-1	no_errors	NM_001887	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.001:0.000:0.000:0.000:0.000:0.006:0.019:0.001:0.000:0.000:0.001:0.994:1.000:1.000:1.000:1.000	-
C2orf71	388939	genome.wustl.edu	37	2	29287926	29287927	+	In_Frame_Ins	INS	-	-	GCT	rs139768554|rs72122505|rs201781577|rs35753661	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:29287926_29287927insGCT	ENST00000331664.5	-	2	3674_3675	c.3675_3676insAGC	c.(3673-3678)agcgag>agcAGCgag	p.1225_1226insS	C2orf71_ENST00000602958.1_5'Flank	NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1225			S -> SS. {ECO:0000269|PubMed:21412943}.		response to stimulus (GO:0050896)|visual perception (GO:0007601)	primary cilium (GO:0072372)		p.S1225_E1226insS(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGCTCTCCTCGCTGCTGCTGC	0.624														1871	0.373602	0.5257	0.2637	5008	,	,		17644	0.4931		0.2545	False		,,,				2504	0.2454															2	Insertion - In frame(2)	ovary(1)|breast(1)	2								1580,1994		462,656,669						5.2	1.0		dbSNP_130	16	1923,5511		406,1111,2200	no	coding	C2orf71	NM_001029883.1		868,1767,2869	A1A1,A1R,RR		25.8676,44.2082,31.8223				3503,7505				29141431	SO:0001652	inframe_insertion	388939				CCDS42669.1	2p23.2	2014-01-28			ENSG00000179270	ENSG00000179270			34383	protein-coding gene	gene with protein product		613425				20398886	Standard	NM_001029883		Approved	FLJ34931, RP54	uc002rmt.2	A6NGG8	OTTHUMG00000152024	ENST00000331664.5:c.3673_3675dupAGC	2.37:g.29287933_29287935dupGCT	ENSP00000332809:p.Ser1225_Ser1225dup		29141430		In_Frame_Ins	INS	NULL	p.1225in_frame_insS	ENST00000331664.5	37	c.3676_3675	CCDS42669.1	2																																																																																			-	NULL		0.624	C2orf71-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf71	protein_coding	OTTHUMT00000324924.3	-	NM_001029883		29141431	-1	no_errors	NM_001029883	genbank	human	predicted	54_36p	in_frame_ins	INS	0.882:0.718	GCT
DDR1	780	genome.wustl.edu	37	6	30858798	30858798	+	Frame_Shift_Del	DEL	G	G	-	rs144609719		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr6:30858798delG	ENST00000324771.8	+	7	1014	c.466delG	c.(466-468)gggfs	p.G156fs	DDR1_ENST00000452441.1_Frame_Shift_Del_p.G156fs|MIR4640_ENST00000581824.1_RNA|DDR1_ENST00000376570.4_Frame_Shift_Del_p.G156fs|DDR1_ENST00000376575.3_Frame_Shift_Del_p.G156fs|DDR1_ENST00000446312.1_Frame_Shift_Del_p.G156fs|DDR1_ENST00000376567.2_Frame_Shift_Del_p.G156fs|DDR1_ENST00000513240.1_Frame_Shift_Del_p.G156fs|DDR1_ENST00000418800.2_Frame_Shift_Del_p.G156fs|DDR1_ENST00000508312.1_Frame_Shift_Del_p.G174fs|DDR1_ENST00000508472.1_3'UTR|DDR1_ENST00000376568.3_Frame_Shift_Del_p.G156fs|DDR1_ENST00000361741.4_5'Flank|DDR1_ENST00000376569.3_Frame_Shift_Del_p.G156fs|DDR1_ENST00000454612.2_Frame_Shift_Del_p.G156fs			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	156	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAAGGACCTTGGGCCCCCCAT	0.627																																																0			6											62.0	61.0	61.0					6																	30858798		1510	2709	4219	30966777	SO:0001589	frameshift_variant	780			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.466delG	6.37:g.30858798delG	ENSP00000318217:p.Gly156fs		30966777	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Frame_Shift_Del	DEL	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C,PatternScan_FA58C_1,PatternScan_FA58C_2,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_TYR,PatternScan_RECEPTOR_TYR_KIN_II	p.M159fs	ENST00000324771.8	37	c.466	CCDS34385.1	6																																																																																			(deletion:cds_exon[30966729,30966876])	HMMSmart_SM00231,superfamily_Galactose-binding domain-like,HMMPfam_F5_F8_type_C		0.627	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	protein_coding	OTTHUMT00000076494.3	G	NM_013994		30966777	+1	no_errors	NM_013994	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
NUMBL	9253	genome.wustl.edu	37	19	41173893	41173898	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-	rs59088184|rs79747129|rs71173669|rs141662737	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	TGCTGT	TGCTGT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:41173893_41173898delTGCTGT	ENST00000252891.4	-	10	1472_1477	c.1305_1310delACAGCA	c.(1303-1311)caacagcag>cag	p.435_437QQQ>Q	NUMBL_ENST00000598779.1_In_Frame_Del_p.394_396QQQ>Q|NUMBL_ENST00000540131.1_In_Frame_Del_p.394_396QQQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	435	Poly-Gln.				adherens junction organization (GO:0034332)|axonogenesis (GO:0007409)|cytokine-mediated signaling pathway (GO:0019221)|lateral ventricle development (GO:0021670)|nervous system development (GO:0007399)|neuroblast division in subventricular zone (GO:0021849)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of neurogenesis (GO:0050769)|protein metabolic process (GO:0019538)	cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ctgctgctgctgctgttgctgttgct	0.66														2856	0.570288	0.7821	0.428	5008	,	,		15157	0.4653		0.5149	False		,,,				2504	0.5501															0			19																																								45865738	SO:0001651	inframe_deletion	9253			AF015401	CCDS12561.1	19q13.13-q13.2	2008-07-17	2001-11-28			ENSG00000105245			8061	protein-coding gene	gene with protein product		604018	"""numb (Drosophila) homolog-like"""			9225980, 9303539	Standard	XM_006723471		Approved	NUMB-R, CTG3a, CAG3A, TNRC23, NUMBR, NUMBLIKE	uc002oon.3	Q9Y6R0		ENST00000252891.4:c.1305_1310delACAGCA	19.37:g.41173899_41173904delTGCTGT	ENSP00000252891:p.Gln445_Gln446del		45865733	Q7Z4J9	In_Frame_Del	DEL	superfamily_SSF50729,HMMSmart_PTB,HMMPfam_PID,HMMPfam_NumbF	p.QQ439in_frame_del	ENST00000252891.4	37	c.1310_1305	CCDS12561.1	19																																																																																			(deletion:cds_exon[45865213,45865883])	NULL		0.660	NUMBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUMBL	protein_coding	OTTHUMT00000462749.2	TGCTGT	NM_004756		45865738	-1	no_errors	NM_004756	genbank	human	validated	54_36p	in_frame_del	DEL	0.998:0.997:0.996:0.997:0.997:0.997	-
RB1	5925	genome.wustl.edu	37	13	48955458	48955458	+	Frame_Shift_Del	DEL	C	C	-	rs4151539	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr13:48955458delC	ENST00000267163.4	+	17	1712	c.1574delC	c.(1573-1575)gccfs	p.A525fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	525	Domain A.|Pocket; binds T and E1A.		A -> G (in dbSNP:rs4151539). {ECO:0000269|Ref.7}.		androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.K524fs*28(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AATTTAAAAGCCTTTGATTTT	0.313		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																												yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	24	Whole gene deletion(15)|Unknown(8)|Deletion - Frameshift(1)	bone(11)|breast(5)|central_nervous_system(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)	13	GRCh37	CM030507	RB1	M	rs4151539						56.0	54.0	55.0					13																	48955458		2203	4300	6503	47853459	SO:0001589	frameshift_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1574delC	13.37:g.48955458delC	ENSP00000267163:p.Ala525fs		47853459	A8K5E3|P78499|Q5VW46|Q8IZL4	Frame_Shift_Del	DEL	HMMPfam_RB_A,superfamily_Cyclin-like,HMMPfam_RB_B,HMMSmart_SM00385,HMMPfam_Rb_C	p.F526fs	ENST00000267163.4	37	c.1574	CCDS31973.1	13																																																																																			(deletion:cds_exon[47853384,47853580])	HMMPfam_RB_A,superfamily_Cyclin-like		0.313	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	protein_coding	OTTHUMT00000044884.1	C			47853459	+1	no_errors	NM_000321	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000	-
SIX5	147912	genome.wustl.edu	37	19	46265047	46265048	+	IGR	INS	-	-	TCCAGC	rs139434566|rs59054027		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr19:46265047_46265048insTCCAGC	ENST00000317578.6	-	0	3318				AC074212.3_ENST00000457052.2_In_Frame_Ins_p.453_453S>SSS|AC074212.5_ENST00000559756.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5						lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		GCAAGGCGCCAtccagctccag	0.658																																																0			19																																								50956888	SO:0001628	intergenic_variant	388553			L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196			19.37:g.46265048_46265053dupTCCAGC			50956887		In_Frame_Ins	INS	HMMPfam_HLH,superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box	p.409in_frame_insSS	ENST00000317578.6	37	c.1215_1216	CCDS12673.1	19																																																																																			-	NULL		0.658	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC388553	protein_coding	OTTHUMT00000417341.3	-	NM_175875		50956888	+1	no_errors	XM_373809	genbank	human	model	54_36p	in_frame_ins	INS	0.000:0.001	TCCAGC
EML3	256364	genome.wustl.edu	37	11	62378798	62378799	+	Frame_Shift_Ins	INS	-	-	C			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr11:62378798_62378799insC	ENST00000394773.2	-	3	519_520	c.212_213insG	c.(211-213)ggafs	p.G71fs	EML3_ENST00000278845.4_Frame_Shift_Ins_p.G72fs|EML3_ENST00000494176.2_Frame_Shift_Ins_p.G43fs|EML3_ENST00000531557.1_5'Flank|ROM1_ENST00000534093.1_5'Flank|EML3_ENST00000529309.1_Frame_Shift_Ins_p.G71fs|ROM1_ENST00000278833.3_5'Flank	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	71						cytoplasm (GO:0005737)|microtubule (GO:0005874)		p.L72fs*46(1)		biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGTGGCAGTCCTGGGGGGGC	0.599																																																1	Insertion - Frameshift(1)	breast(1)	11																																								62135375	SO:0001589	frameshift_variant	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.213dupG	11.37:g.62378800_62378800dupC	ENSP00000378254:p.Gly71fs		62135374	Q6ZQW7|Q8NA55	Frame_Shift_Ins	INS	HMMPfam_HELP,HMMSmart_SM00320,HMMPfam_WD40,superfamily_WD40 repeat-like	p.L72fs	ENST00000394773.2	37	c.213_212	CCDS8023.2	11																																																																																			-	NULL		0.599	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	protein_coding	OTTHUMT00000313432.1	-	NM_153265		62135375	-1	no_errors	NM_153265	genbank	human	validated	54_36p	frame_shift_ins	INS	0.990:0.997	C
L1TD1	54596	genome.wustl.edu	37	1	62672604	62672604	+	Frame_Shift_Del	DEL	T	T	-			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr1:62672604delT	ENST00000498273.1	+	3	599	c.304delT	c.(304-306)tttfs	p.F102fs		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	102										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TAGGACagagtttcagcaaat	0.343																																																0			1											57.0	66.0	63.0					1																	62672604		2172	4286	6458	62445192	SO:0001589	frameshift_variant	54596			BC060808	CCDS619.1	1p31.3	2009-01-12			ENSG00000240563	ENSG00000240563			25595	protein-coding gene	gene with protein product						12477932	Standard	NM_001164835		Approved	FLJ10884, ECAT11	uc001dae.4	Q5T7N2	OTTHUMG00000008914	ENST00000498273.1:c.304delT	1.37:g.62672604delT	ENSP00000419901:p.Phe102fs		62445192	Q8NDA1|Q9NUV8|Q9NV78	Frame_Shift_Del	DEL	HMMPfam_Transposase_22	p.Q103fs	ENST00000498273.1	37	c.304	CCDS619.1	1																																																																																			(deletion:cds_exon[62444889,62445896])	NULL		0.343	L1TD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	L1TD1	protein_coding	OTTHUMT00000024688.1	T	NM_019079		62445192	+1	no_errors	NM_019079	genbank	human	validated	54_36p	frame_shift_del	DEL	0.000	-
RAB11FIP5	26056	genome.wustl.edu	37	2	73308224	73308229	+	Intron	DEL	TCCTCC	TCCTCC	-	rs376882769|rs72344675|rs562207853		TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	TCCTCC	TCCTCC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:73308224_73308229delTCCTCC	ENST00000258098.6	-	4	1809				RAB11FIP5_ENST00000493523.2_Intron	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)						cellular response to acidic pH (GO:0071468)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|regulation of protein localization to cell surface (GO:2000008)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCCCAcctcttcctcctcctcctcct	0.704																																																0			2																																								73161737	SO:0001627	intron_variant	26056			AF334812	CCDS1923.1	2p13	2008-02-05			ENSG00000135631	ENSG00000135631			24845	protein-coding gene	gene with protein product		605536				10048485, 11163216	Standard	NM_015470		Approved	GAF1, KIAA0857, RIP11, pp75	uc002sis.4	Q9BXF6	OTTHUMG00000129779	ENST00000258098.6:c.1569-4914GGAGGA>-	2.37:g.73308230_73308235delTCCTCC			73161732	O94939|Q9P0M1	In_Frame_Del	DEL	PatternScan_ENOYL_COA_HYDRATASE,superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2,HMMPfam_RBD-FIP	p.GG713in_frame_del	ENST00000258098.6	37	c.2142_2137	CCDS1923.1	2																																																																																			(deletion:cds_exon[73160287,73162299])	NULL		0.704	RAB11FIP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP5	protein_coding	OTTHUMT00000251995.1	TCCTCC	NM_015470		73161737	-1	no_start_codon	ENST00000389508	ensembl	human	known	54_36p	in_frame_del	DEL	0.207:0.212:0.205:0.113:0.056:0.011	-
ST3GAL5	8869	genome.wustl.edu	37	2	86067402	86067412	+	Frame_Shift_Del	DEL	GTAGTGCAAAG	GTAGTGCAAAG	-			TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	GTAGTGCAAAG	GTAGTGCAAAG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:86067402_86067412delGTAGTGCAAAG	ENST00000377332.3	-	7	1220_1230	c.1112_1122delCTTTGCACTAC	c.(1111-1122)cctttgcactacfs	p.PLHY371fs	ST3GAL5_ENST00000393808.3_Frame_Shift_Del_p.PLHY348fs|ST3GAL5_ENST00000393805.1_Frame_Shift_Del_p.PLHY343fs	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	371					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						GACTGTCGAAGTAGTGCAAAGGTGTTCTGGG	0.474																																																0			2																																								85920923	SO:0001589	frameshift_variant	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.1112_1122delCTTTGCACTAC	2.37:g.86067402_86067412delGTAGTGCAAAG	ENSP00000366549:p.Pro371fs		85920913	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Frame_Shift_Del	DEL	HMMPfam_Glyco_transf_29	p.P371fs	ENST00000377332.3	37	c.1122_1112	CCDS1986.2	2																																																																																			(deletion:cds_exon[85920778,85921026])	HMMPfam_Glyco_transf_29		0.474	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	protein_coding	OTTHUMT00000252486.1	GTAGTGCAAAG	NM_003896		85920923	-1	no_errors	NM_003896	genbank	human	reviewed	54_36p	frame_shift_del	DEL	1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.889:0.877:0.977	-
USP30	84749	genome.wustl.edu	37	12	109490426	109490427	+	5'UTR	INS	-	-	CGGCGG	rs71079516|rs3217401|rs140371213	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr12:109490426_109490427insCGGCGG	ENST00000257548.5	+	0	36_37				USP30_ENST00000392784.2_Intron|USP30-AS1_ENST00000478808.2_RNA	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						ATCCCTCGGTCcggcggcggcg	0.728														2378	0.47484	0.177	0.6398	5008	,	,		14910	0.6944		0.5199	False		,,,				2504	0.4877															0			12																																								107974810	SO:0001623	5_prime_UTR_variant	0			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.-57->CGGCGG	12.37:g.109490427_109490432dupCGGCGG			107974809	Q8WTU7|Q96JX4|Q9BSS3	In_Frame_Ins	INS	NULL	p.63in_frame_insPP	ENST00000257548.5	37	c.190_189	CCDS9123.2	12																																																																																			-	NULL		0.728	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100131733	protein_coding	OTTHUMT00000257733.2	-	NM_032663		107974810	-1	no_errors	XM_001722340	genbank	human	model	54_36p	in_frame_ins	INS	0.000:0.000	CGGCGG
FAM171B	165215	genome.wustl.edu	37	2	187559029	187559030	+	In_Frame_Ins	INS	-	-	CAGCAG	rs549897920|rs56669143	byFrequency	TCGA-24-1849-01A-01W-0639-09	TCGA-24-1849-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	022f1926-871a-45ce-b0c6-28f594bbf5a3	0d9fd243-5634-4c0f-a707-4a482cb031c8	g.chr2:187559029_187559030insCAGCAG	ENST00000304698.5	+	1	332_333	c.129_130insCAGCAG	c.(130-132)cag>CAGCAGcag	p.44_44Q>QQQ	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	44	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						GCCTCATCcaacagcagcagca	0.644														865	0.172724	0.1831	0.2219	5008	,	,		13517	0.0675		0.2137	False		,,,				2504	0.1902															0			2																																								187267275	SO:0001652	inframe_insertion	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.142_147dupCAGCAG	2.37:g.187559030_187559035dupCAGCAG	ENSP00000304108:p.GlnGln56dup		187267274	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	In_Frame_Ins	INS	HMMPfam_UPF0560	p.47in_frame_insQQ	ENST00000304698.5	37	c.129_130	CCDS33347.1	2																																																																																			-	NULL		0.644	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171B	protein_coding	OTTHUMT00000334679.1	-	NM_177454		187267275	+1	no_errors	NM_177454	genbank	human	validated	54_36p	in_frame_ins	INS	0.996:0.998	CAGCAG
