#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
KIAA0020	9933	genome.wustl.edu	37	9	2838437	2838437	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr9:2838437T>A	ENST00000397885.2	-	2	277	c.71A>T	c.(70-72)cAt>cTt	p.H24L		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	24						endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ACTATTTTTATGAAATCTGTT	0.373																																																0			9											210.0	195.0	199.0					9																	2838437		1839	4093	5932	2828437	SO:0001583	missense	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.71A>T	9.37:g.2838437T>A	ENSP00000380982:p.His24Leu		2828437	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	Missense_Mutation	SNP	superfamily_ARM repeat,HMMSmart_SM00025,HMMPfam_CPL	p.H24L	ENST00000397885.2	37	c.71	CCDS6448.2	9	.	.	.	.	.	.	.	.	.	.	T	3.787	-0.044460	0.07452	.	.	ENSG00000080608	ENST00000397885	D	0.87491	-2.26	4.59	-3.53	0.04667	.	1.289200	0.04916	N	0.454051	T	0.73544	0.3600	N	0.14661	0.345	0.20764	N	0.999859	B	0.09022	0.002	B	0.06405	0.002	T	0.57435	-0.7812	10	0.27785	T	0.31	-13.198	6.2688	0.20943	0.0:0.3842:0.139:0.4768	.	24	Q15397	K0020_HUMAN	L	24	ENSP00000380982:H24L	ENSP00000380982:H24L	H	-	2	0	KIAA0020	2828437	0.503000	0.26115	0.018000	0.16275	0.455000	0.32408	-0.288000	0.08377	-0.792000	0.04480	-0.250000	0.11733	CAT	-	NULL		0.373	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	protein_coding	OTTHUMT00000051529.3	T	NM_014878		2828437	-1	no_errors	NM_014878	genbank	human	validated	54_36p	missense	SNP	0.635	A
KCNA6	3742	genome.wustl.edu	37	12	4920662	4920662	+	Silent	SNP	T	T	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:4920662T>A	ENST00000280684.3	+	1	2321	c.1455T>A	c.(1453-1455)ccT>ccA	p.P485P	KCNA6_ENST00000433855.1_Silent_p.P485P|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	485					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	GTGGGCAGCCTGCGCCGGACC	0.607										HNSCC(72;0.22)																																						0			12											103.0	99.0	100.0					12																	4920662		2203	4300	6503	4790923	SO:0001819	synonymous_variant	3742			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.1455T>A	12.37:g.4920662T>A			4790923		Silent	SNP	superfamily_BTB/POZ_fold,HMMSmart_BTB,HMMPfam_K_tetra,superfamily_SSF81324,HMMPfam_Ion_trans	p.P485	ENST00000280684.3	37	c.1455	CCDS8534.1	12																																																																																			-	NULL		0.607	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	protein_coding	OTTHUMT00000398909.1	T	NM_002235		4790923	+1	no_errors	NM_002235	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
TP53	7157	genome.wustl.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:7577129A>G	ENST00000269305.4	-	8	998	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.F270S	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	270	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)	ACGCACCTCAAAGCTGTTCCG	0.537		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"""	48	Substitution - Missense(28)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(4)|Unknown(2)	oesophagus(10)|breast(8)|upper_aerodigestive_tract(5)|large_intestine(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(3)|urinary_tract(2)|ovary(2)|salivary_gland(1)|lung(1)|eye(1)|pancreas(1)	17											57.0	50.0	53.0					17																	7577129		2203	4300	6503	7517854	SO:0001583	missense	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.809T>C	17.37:g.7577129A>G	ENSP00000269305:p.Phe270Ser		7517854	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.F270S	ENST00000269305.4	37	c.809	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262404	0.80358	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99815	-6.9;-6.9;-6.9;-6.9;-6.9;-6.9	5.13	5.13	0.70059	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99806	0.9916	M	0.86740	2.835	0.58432	D	0.999996	D;D;D;D	0.89917	1.0;0.994;1.0;0.999	D;D;D;D	0.83275	0.996;0.931;0.996;0.996	D	0.96817	0.9601	10	0.87932	D	0	-25.5181	12.9367	0.58319	1.0:0.0:0.0:0.0	.	270;270;270;270	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	S	270;270;270;270;270;259;138	ENSP00000352610:F270S;ENSP00000269305:F270S;ENSP00000398846:F270S;ENSP00000391127:F270S;ENSP00000391478:F270S;ENSP00000425104:F138S	ENSP00000269305:F270S	F	-	2	0	TP53	7517854	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	7.040000	0.76551	2.154000	0.67381	0.379000	0.24179	TTT	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7517854	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
TARDBP	23435	genome.wustl.edu	37	1	11078856	11078856	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:11078856A>G	ENST00000240185.3	+	4	583	c.469A>G	c.(469-471)Aca>Gca	p.T157A	TARDBP_ENST00000315091.3_Missense_Mutation_p.T157A|TARDBP_ENST00000439080.2_Missense_Mutation_p.T41A	NM_007375.3	NP_031401.1	Q13148	TADBP_HUMAN	TAR DNA binding protein	157	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|cell death (GO:0008219)|mRNA processing (GO:0006397)|negative regulation by host of viral transcription (GO:0043922)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)	11	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0578)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.37e-07)|COAD - Colon adenocarcinoma(227;7.38e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)		GGAATATGAAACACAAGTGAA	0.388																																																0			1											212.0	199.0	204.0					1																	11078856		2203	4300	6503	11001443	SO:0001583	missense	23435			U23731	CCDS122.1	1p36.22	2014-09-17			ENSG00000120948	ENSG00000120948		"""RNA binding motif (RRM) containing"""	11571	protein-coding gene	gene with protein product		605078				7745706	Standard	NM_007375		Approved	TDP-43, ALS10	uc001art.3	Q13148	OTTHUMG00000002120	ENST00000240185.3:c.469A>G	1.37:g.11078856A>G	ENSP00000240185:p.Thr157Ala		11001443	A4GUK4|A4GUK5|A4GUK6|B2R629|B4DJ45|E2PU12|Q53H27|Q6FI92|Q96DJ0	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.T157A	ENST00000240185.3	37	c.469	CCDS122.1	1	.	.	.	.	.	.	.	.	.	.	A	13.21	2.170470	0.38315	.	.	ENSG00000120948	ENST00000240185;ENST00000439080;ENST00000315091	D;D;D	0.96073	-3.9;-3.9;-1.98	5.81	5.81	0.92471	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.044394	0.85682	D	0.000000	D	0.84683	0.5526	N	0.00760	-1.21	0.80722	D	1	B;B	0.15719	0.014;0.009	B;B	0.15870	0.014;0.01	T	0.81936	-0.0705	10	0.13470	T	0.59	-24.6987	16.1699	0.81801	1.0:0.0:0.0:0.0	.	41;157	B4DJ45;Q13148	.;TADBP_HUMAN	A	157;41;157	ENSP00000240185:T157A;ENSP00000404666:T41A;ENSP00000313129:T157A	ENSP00000240185:T157A	T	+	1	0	TARDBP	11001443	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.137000	0.77295	2.217000	0.71921	0.533000	0.62120	ACA	-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1		0.388	TARDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARDBP	protein_coding	OTTHUMT00000006063.1	A	NM_007375		11001443	+1	no_errors	NM_007375	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZNF653	115950	genome.wustl.edu	37	19	11598600	11598600	+	Silent	SNP	C	C	T	rs184960221	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr19:11598600C>T	ENST00000293771.5	-	4	814	c.678G>A	c.(676-678)acG>acA	p.T226T	CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						GGCTGGTGGGCGTCGCTGCCG	0.672													C|||	240	0.0479233	0.0393	0.0994	5008	,	,		9045	0.0397		0.0408	False		,,,				2504	0.0389				Pancreas(83;980 1446 4542 6441 43352)											0			19											25.0	24.0	24.0					19																	11598600		2175	4227	6402	11459600	SO:0001819	synonymous_variant	115950			AY072704	CCDS12261.1	19p13.2	2013-01-08						"""Zinc fingers, C2H2-type"""	25196	protein-coding gene	gene with protein product		611371				12477932	Standard	NM_138783		Approved	Zip67	uc002mrz.2	Q96CK0		ENST00000293771.5:c.678G>A	19.37:g.11598600C>T			11459600	Q96AS7	Silent	SNP	HMMSmart_AT_hook,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.T226	ENST00000293771.5	37	c.678	CCDS12261.1	19																																																																																			-	NULL		0.672	ZNF653-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF653	protein_coding	OTTHUMT00000458836.2	C	NM_138783		11459600	-1	no_errors	NM_138783	genbank	human	provisional	54_36p	silent	SNP	0.014	T
DNAH9	1770	genome.wustl.edu	37	17	11648368	11648368	+	Silent	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:11648368G>T	ENST00000262442.4	+	31	6434	c.6366G>T	c.(6364-6366)ctG>ctT	p.L2122L	DNAH9_ENST00000454412.2_Silent_p.L2122L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2122	AAA 2. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TAGTGGATCTGAAGCTCCAGG	0.512																																																0			17											118.0	121.0	120.0					17																	11648368		2203	4300	6503	11589093	SO:0001819	synonymous_variant	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.6366G>T	17.37:g.11648368G>T			11589093	A2VCQ8|O15064|O95494|Q9NQ28	Silent	SNP	HMMPfam_DHC_N1,superfamily_Spectrin repeat,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,HMMPfam_Dynein_heavy,PatternScan_CPSASE_2	p.L2122	ENST00000262442.4	37	c.6366	CCDS11160.1	17																																																																																			-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.512	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	protein_coding	OTTHUMT00000252756.2	G	NM_001372		11589093	+1	no_errors	NM_001372	genbank	human	reviewed	54_36p	silent	SNP	0.997	T
NDUFA13	51079	genome.wustl.edu	37	19	19626179	19626179	+	5'Flank	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr19:19626179C>T	ENST00000507754.4	+	0	0				NDUFA13_ENST00000252576.5_5'Flank|TSSK6_ENST00000585580.3_Missense_Mutation_p.E20K|NDUFA13_ENST00000503283.1_5'Flank|CTC-260F20.3_ENST00000555938.1_5'Flank|YJEFN3_ENST00000608404.1_5'Flank|TSSK6_ENST00000360913.3_Missense_Mutation_p.E20K|NDUFA13_ENST00000512771.3_5'Flank|NDUFA13_ENST00000428459.2_5'Flank			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13						apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)	p.E20Q(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						TAGCTGCCCTCTCCAATTGTG	0.632																																																1	Substitution - Missense(1)	lung(1)	19											78.0	77.0	77.0					19																	19626179		2203	4300	6503	19487179	SO:0001631	upstream_gene_variant	83983			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211		19.37:g.19626179C>T	Exception_encountered		19487179	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.E20K	ENST00000507754.4	37	c.58	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470642	0.43942	.	.	ENSG00000178093	ENST00000360913	T	0.65916	-0.18	5.02	5.02	0.67125	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40222	U	0.001147	T	0.35595	0.0937	N	0.04090	-0.28	0.42015	D	0.990955	B	0.22414	0.069	B	0.22152	0.038	T	0.35251	-0.9796	10	0.02654	T	1	.	13.8868	0.63712	0.0:1.0:0.0:0.0	.	20	Q9BXA6	TSSK6_HUMAN	K	20	ENSP00000354168:E20K	ENSP00000354168:E20K	E	-	1	0	TSSK6	19487179	0.998000	0.40836	0.994000	0.49952	0.979000	0.70002	3.785000	0.55424	2.353000	0.79882	0.485000	0.47835	GAG	-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP		0.632	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	TSSK6	protein_coding	OTTHUMT00000367916.6	C	NM_015965		19487179	-1	no_errors	NM_032037	genbank	human	validated	54_36p	missense	SNP	0.972	T
ZNF280B	140883	genome.wustl.edu	37	22	22843283	22843283	+	Silent	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:22843283T>C	ENST00000406426.1	-	4	1183	c.441A>G	c.(439-441)acA>acG	p.T147T	ZNF280B_ENST00000360412.2_Silent_p.T147T			Q86YH2	Z280B_HUMAN	zinc finger protein 280B	147					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		AATCTGTGAATGTAATCAAAG	0.358																																																0			22											163.0	161.0	162.0					22																	22843283		2203	4300	6503	21173283	SO:0001819	synonymous_variant	140883			AK097608	CCDS13799.1	22q11.2	2007-09-20	2007-09-20	2007-09-20	ENSG00000198477	ENSG00000275004			23022	protein-coding gene	gene with protein product			"""zinc finger protein 279"", ""suppressor of hairy wing homolog 2 (Drosophila)"""	ZNF279, SUHW2		9074928	Standard	NM_080764		Approved	5'OY11.1, ZNF632	uc002zwc.1	Q86YH2	OTTHUMG00000151066	ENST00000406426.1:c.441A>G	22.37:g.22843283T>C			21173283		Silent	SNP	HMMSmart_SM00355,superfamily_RING/U-box,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers	p.T147	ENST00000406426.1	37	c.441	CCDS13799.1	22																																																																																			-	NULL		0.358	ZNF280B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF280B	protein_coding	OTTHUMT00000321170.2	T	NM_080764		21173283	-1	no_errors	NM_080764	genbank	human	reviewed	54_36p	silent	SNP	0.000	C
C2CD5	9847	genome.wustl.edu	37	12	22631295	22631295	+	Silent	SNP	T	T	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:22631295T>G	ENST00000333957.4	-	15	2109	c.1854A>C	c.(1852-1854)atA>atC	p.I618I	C2CD5_ENST00000446597.1_Silent_p.I618I|C2CD5_ENST00000542676.1_Silent_p.I618I|C2CD5_ENST00000545552.1_Silent_p.I631I|C2CD5_ENST00000536386.1_Silent_p.I620I|C2CD5_ENST00000396028.2_Silent_p.I609I|C2CD5_ENST00000544930.1_Silent_p.I433I	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	618					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTGTGTCATTTATCTTCTTCT	0.338																																																0			12											157.0	148.0	151.0					12																	22631295		2203	4300	6503	22522562	SO:0001819	synonymous_variant	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.1854A>C	12.37:g.22631295T>G			22522562	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Silent	SNP	superfamily_C2 domain (Calcium/lipid-binding domain CaLB),HMMSmart_SM00239,HMMPfam_C2	p.I618	ENST00000333957.4	37	c.1854	CCDS31758.1	12																																																																																			-	NULL		0.338	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0528	protein_coding	OTTHUMT00000402257.1	T	NM_014802		22522562	-1	no_errors	NM_014802	genbank	human	predicted	54_36p	silent	SNP	1.000	G
ATAD2B	54454	genome.wustl.edu	37	2	23977524	23977524	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:23977524C>G	ENST00000238789.5	-	26	4542	c.4199G>C	c.(4198-4200)aGa>aCa	p.R1400T	ATAD2B_ENST00000474583.1_5'UTR	NM_001242338.1|NM_017552.2	NP_001229267.1|NP_060022.1	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	1400						nucleus (GO:0005634)	ATP binding (GO:0005524)|lysine-acetylated histone binding (GO:0070577)			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TACCTTCAATCTCTCACGATC	0.408																																																0			2											88.0	90.0	89.0					2																	23977524		1860	4089	5949	23831028	SO:0001583	missense	54454			AB033066	CCDS46227.1	2p24.1-p23.3	2010-04-21		2007-02-08	ENSG00000119778	ENSG00000119778		"""ATPases / AAA-type"""	29230	protein-coding gene	gene with protein product		615347					Standard	XM_005264372		Approved	KIAA1240	uc002rek.4	Q9ULI0	OTTHUMG00000151902	ENST00000238789.5:c.4199G>C	2.37:g.23977524C>G	ENSP00000238789:p.Arg1400Thr		23831028	B9ZVQ5|Q6ZNA6|Q8N9E7	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA,PatternScan_AAA,superfamily_Bromodomain,HMMSmart_SM00297,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.R1400T	ENST00000238789.5	37	c.4199	CCDS46227.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.1|23.1	4.379013|4.379013	0.82682|0.82682	.|.	.|.	ENSG00000119778|ENSG00000119778	ENST00000381024|ENST00000238789;ENST00000546030	.|D	.|0.92595	.|-3.07	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	.|0.000000	.|0.64402	.|D	.|0.000004	D|D	0.94621|0.94621	0.8266|0.8266	M|M	0.65498|0.65498	2.005|2.005	0.51233|0.51233	D|D	0.999911|0.999911	.|D;D	.|0.65815	.|0.991;0.995	.|P;P	.|0.61003	.|0.766;0.882	D|D	0.94252|0.94252	0.7494|0.7494	5|10	.|0.48119	.|T	.|0.1	.|.	16.2132|16.2132	0.82185|0.82185	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1400;1395	.|Q9ULI0;Q9ULI0-2	.|ATD2B_HUMAN;.	H|T	676|1400;568	.|ENSP00000238789:R1400T	.|ENSP00000238789:R1400T	D|R	-|-	1|2	0|0	ATAD2B|ATAD2B	23831028|23831028	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.973000|0.973000	0.67179|0.67179	4.738000|4.738000	0.62073|0.62073	2.595000|2.595000	0.87683|0.87683	0.650000|0.650000	0.86243|0.86243	GAT|AGA	-	NULL		0.408	ATAD2B-001	KNOWN	mRNA_end_NF|basic|appris_principal|CCDS	protein_coding	ATAD2B	protein_coding	OTTHUMT00000324333.1	C	NM_017552		23831028	-1	no_errors	NM_017552	genbank	human	validated	54_36p	missense	SNP	0.999	G
SLC6A4	6532	genome.wustl.edu	37	17	28544321	28544321	+	Splice_Site	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:28544321G>A	ENST00000401766.2	-	5	1212	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	SLC6A4_ENST00000261707.3_Splice_Site_p.R234C			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	234					brain morphogenesis (GO:0048854)|cellular response to cGMP (GO:0071321)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|memory (GO:0007613)|monoamine transport (GO:0015844)|negative regulation of cerebellar granule cell precursor proliferation (GO:0021941)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of organ growth (GO:0046621)|negative regulation of synaptic transmission, dopaminergic (GO:0032227)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|serotonin transport (GO:0006837)|serotonin uptake (GO:0051610)|social behavior (GO:0035176)|sperm ejaculation (GO:0042713)|thalamus development (GO:0021794)|vasoconstriction (GO:0042310)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|cocaine binding (GO:0019811)|monoamine transmembrane transporter activity (GO:0008504)|Rab GTPase binding (GO:0017137)|serotonin transmembrane transporter activity (GO:0015222)|serotonin:sodium symporter activity (GO:0005335)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexfenfluramine(DB01191)|Dexmethylphenidate(DB06701)|Dextromethorphan(DB00514)|Dopamine(DB00988)|Doxepin(DB01142)|Duloxetine(DB00476)|Ephedra(DB01363)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Levomilnacipran(DB08918)|Loxapine(DB00408)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Pethidine(DB00454)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Sertraline(DB01104)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)	AGGACGTGGCGCCTGGGGTGA	0.592																																																0			17											53.0	55.0	54.0					17																	28544321		2203	4300	6503	25568447	SO:0001630	splice_region_variant	6532			L05568	CCDS11256.1	17q11.2	2014-01-30	2013-07-19		ENSG00000108576	ENSG00000108576		"""Solute carriers"""	11050	protein-coding gene	gene with protein product	"""serotonin transporter 1"""	182138	"""solute carrier family 6 (neurotransmitter transporter, serotonin), member 4"", ""5-hydroxytryptamine (serotonin) transporter"", ""obsessive-compulsive disorder 1"""	HTT, OCD1		7681602, 19806148	Standard	NM_001045		Approved	5-HTT, SERT1	uc002hey.5	P31645	OTTHUMG00000132751	ENST00000401766.2:c.699-1C>T	17.37:g.28544321G>A			25568447	Q5EE02	Missense_Mutation	SNP	HMMPfam_5HT_transporter,HMMPfam_SNF,PatternScan_NA_NEUROTRAN_SYMP_1,PatternScan_NA_NEUROTRAN_SYMP_2	p.R234C	ENST00000401766.2	37	c.700	CCDS11256.1	17	.	.	.	.	.	.	.	.	.	.	G	29.0	4.972157	0.92919	.	.	ENSG00000108576	ENST00000394821;ENST00000401766;ENST00000261707	T;T	0.77877	-1.13;-1.13	5.7	5.7	0.88788	.	0.045975	0.85682	D	0.000000	D	0.91808	0.7408	H	0.94183	3.505	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93539	0.6876	10	0.87932	D	0	.	18.8226	0.92103	0.0:0.0:1.0:0.0	.	234	P31645	SC6A4_HUMAN	C	276;234;234	ENSP00000385822:R234C;ENSP00000261707:R234C	ENSP00000261707:R234C	R	-	1	0	SLC6A4	25568447	1.000000	0.71417	1.000000	0.80357	0.764000	0.43329	4.457000	0.60088	2.696000	0.92011	0.561000	0.74099	CGC	-	HMMPfam_SNF		0.592	SLC6A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A4	protein_coding	OTTHUMT00000256115.3	G	NM_001045	Missense_Mutation	25568447	-1	no_errors	NM_001045	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
LMNTD1	160492	genome.wustl.edu	37	12	25679131	25679131	+	Missense_Mutation	SNP	C	C	T	rs374111917		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:25679131C>T	ENST00000282881.6	-	5	786	c.637G>A	c.(637-639)Gca>Aca	p.A213T	IFLTD1_ENST00000539744.1_Missense_Mutation_p.A116T|IFLTD1_ENST00000413632.2_Intron|IFLTD1_ENST00000445693.1_Missense_Mutation_p.A150T|IFLTD1_ENST00000458174.2_Missense_Mutation_p.A234T	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		213	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					TGATGCTTTGCTTCAGATGCT	0.393																																																0			12											123.0	111.0	115.0					12																	25679131		2203	4300	6503	25570398	SO:0001583	missense	160492																														ENST00000282881.6:c.637G>A	12.37:g.25679131C>T	ENSP00000282881:p.Ala213Thr		25570398	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail	p.A213T	ENST00000282881.6	37	c.637	CCDS8704.1	12	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138857	0.56936	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000545543	D;D;D;D;T	0.98493	-4.96;-4.96;-4.96;-4.96;2.43	5.29	3.47	0.39725	Intermediate filament, C-terminal (1);	.	.	.	.	D	0.96956	0.9006	L	0.46157	1.445	0.18873	N	0.999987	P;P;P	0.49185	0.902;0.902;0.92	B;B;P	0.50860	0.415;0.415;0.652	D	0.92196	0.5764	8	.	.	.	-5.4645	7.8413	0.29400	0.0:0.8143:0.0:0.1857	.	150;234;213	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9	.;.;ILFT1_HUMAN	T	213;116;234;150;43	ENSP00000282881:A213T;ENSP00000443132:A116T;ENSP00000407353:A234T;ENSP00000407043:A150T;ENSP00000443596:A43T	.	A	-	1	0	IFLTD1	25570398	0.439000	0.25610	0.128000	0.21923	0.986000	0.74619	0.908000	0.28545	0.796000	0.33947	0.655000	0.94253	GCA	-	superfamily_Lamin A/C globular tail domain,HMMPfam_IF_tail		0.393	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	protein_coding	OTTHUMT00000402279.1	C			25570398	-1	no_errors	NM_152590	genbank	human	validated	54_36p	missense	SNP	0.007	T
PPP2R2A	5520	genome.wustl.edu	37	8	26212032	26212032	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:26212032T>C	ENST00000380737.3	+	4	558	c.229T>C	c.(229-231)Ttc>Ctc	p.F77L	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.F87L	NM_002717.3	NP_002708.1	P63151	2ABA_HUMAN	protein phosphatase 2, regulatory subunit B, alpha	77					G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope reassembly (GO:0007084)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)|response to morphine (GO:0043278)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TTACAGCACCTTCCAGAGCCA	0.323																																																0			8											93.0	96.0	95.0					8																	26212032		2203	4300	6503	26267949	SO:0001583	missense	5520			M64929	CCDS34867.1, CCDS55213.1	8p21.2	2013-01-10	2010-04-14		ENSG00000221914	ENSG00000221914	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9304	protein-coding gene	gene with protein product	"""PP2A subunit B isoform alpha"""	604941	"""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), alpha isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, alpha isoform"""			1849734	Standard	NM_001177591		Approved	PR52A, PR55A, B55A		P63151	OTTHUMG00000163850	ENST00000380737.3:c.229T>C	8.37:g.26212032T>C	ENSP00000370113:p.Phe77Leu		26267949	B2RBU8|B4E1T7|P50409|Q00007	Missense_Mutation	SNP	HMMSmart_SM00320,superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N,PatternScan_PR55_1,HMMPfam_PP2A_B_subs_rcg,PatternScan_PR55_2	p.F77L	ENST00000380737.3	37	c.229	CCDS34867.1	8	.	.	.	.	.	.	.	.	.	.	T	35	5.454532	0.96223	.	.	ENSG00000221914	ENST00000380737;ENST00000315985	T;T	0.28255	1.62;1.62	5.9	5.9	0.94986	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	U	0.000000	T	0.53834	0.1821	M	0.82517	2.595	0.80722	D	1	D;D	0.59767	0.986;0.986	P;P	0.56163	0.793;0.793	T	0.59182	-0.7502	10	0.52906	T	0.07	-0.6623	16.326	0.82979	0.0:0.0:0.0:1.0	.	87;77	B4E1T7;P63151	.;2ABA_HUMAN	L	77;87	ENSP00000370113:F77L;ENSP00000325074:F87L	ENSP00000325074:F87L	F	+	1	0	PPP2R2A	26267949	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.258000	0.74832	0.528000	0.53228	TTC	-	superfamily_WD40 repeat-like,HMMPfam_PP2A_B_N		0.323	PPP2R2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2A	protein_coding	OTTHUMT00000375954.2	T	NM_002717		26267949	+1	no_errors	NM_002717	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
WRN	7486	genome.wustl.edu	37	8	30999079	30999079	+	Missense_Mutation	SNP	A	A	T	rs200370409	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:30999079A>T	ENST00000298139.5	+	25	3350	c.3101A>T	c.(3100-3102)tAt>tTt	p.Y1034F		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	1034					aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTTTCTCGGTATAACAAATTT	0.418			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A|||	3	0.000599042	0.0	0.0014	5008	,	,		17133	0.0		0.001	False		,,,				2504	0.001				Ovarian(18;161 598 2706 14834 27543)	yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	Werner syndrome (RECQL2)		"""L, E, M, O"""	0			8						A	PHE/TYR	0,4406		0,0,2203	106.0	104.0	104.0		3101	-11.6	0.0	8		104	4,8596	3.7+/-12.6	0,4,4296	yes	missense	WRN	NM_000553.4	22	0,4,6499	TT,TA,AA		0.0465,0.0,0.0308	benign	1034/1433	30999079	4,13002	2203	4300	6503	31118621	SO:0001583	missense	7486	Familial Cancer Database	WS, Adult Progeria		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.3101A>T	8.37:g.30999079A>T	ENSP00000298139:p.Tyr1034Phe		31118621	A1KYY9	Missense_Mutation	SNP	HMMSmart_SM00474,HMMPfam_3_5_exonuc,superfamily_Ribonuclease H-like,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,HMMPfam_RQC,HMMSmart_SM00341,HMMPfam_HRDC	p.Y1034F	ENST00000298139.5	37	c.3101	CCDS6082.1	8	.	.	.	.	.	.	.	.	.	.	A	4.199	0.035626	0.08148	0.0	4.65E-4	ENSG00000165392	ENST00000298139	T	0.28895	1.59	5.8	-11.6	0.00059	RQC domain (2);	4.093300	0.00424	N	0.000076	T	0.17704	0.0425	N	0.21240	0.645	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.27500	0.008;0.08	T	0.10776	-1.0615	10	0.23891	T	0.37	27.9441	7.2228	0.25997	0.2314:0.3503:0.3538:0.0645	.	444;1034	Q59F09;Q14191	.;WRN_HUMAN	F	1034	ENSP00000298139:Y1034F	ENSP00000298139:Y1034F	Y	+	2	0	WRN	31118621	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-3.823000	0.00357	-3.589000	0.00136	-1.887000	0.00540	TAT	-	HMMPfam_RQC		0.418	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRN	protein_coding	OTTHUMT00000376248.1	A			31118621	+1	no_errors	NM_000553	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
RPL23AP71	644384	genome.wustl.edu	37	14	34955309	34955309	+	IGR	SNP	G	G	A	rs150270677		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr14:34955309G>A								SPTSSA (23747 upstream) : EAPP (29825 downstream)																							AGACCCGCACGTCACCCACCT	0.552																																																0			14																																								34025060	SO:0001628	intergenic_variant	644384																															14.37:g.34955309G>A			34025060		RNA	SNP	-	NULL		37	NULL		14																																																																																			-	-	0	0.552					LOC644384			G			34025060	+1	pseudogene	XR_017413	genbank	human	model	54_36p	rna	SNP	0.980	A
MED24	9862	genome.wustl.edu	37	17	38186112	38186112	+	Splice_Site	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:38186112G>T	ENST00000394128.2	-	13	1236	c.1155C>A	c.(1153-1155)cgC>cgA	p.R385R	MED24_ENST00000501516.3_Splice_Site_p.R404R|MED24_ENST00000356271.3_Splice_Site_p.R372R|MED24_ENST00000394126.1_Splice_Site_p.R410R|SNORD124_ENST00000459577.1_RNA|MED24_ENST00000394127.2_Splice_Site_p.R372R	NM_014815.3	NP_055630.2	O75448	MED24_HUMAN	mediator complex subunit 24	385					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription, DNA-templated (GO:0045893)|protein heterooligomerization (GO:0051291)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					GGTCCGCTTTGCTGTGGACAT	0.562																																																0			17											195.0	145.0	162.0					17																	38186112		2203	4300	6503	35439638	SO:0001630	splice_region_variant	9862			AF055995	CCDS11359.1, CCDS42315.1	17q21.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000008838	ENSG00000008838			22963	protein-coding gene	gene with protein product		607000	"""thyroid hormone receptor associated protein 4"", ""cofactor required for Sp1 transcriptional activation, subunit 4, 100kDa"""	THRAP4, CRSP4			Standard	NM_001079518		Approved	TRAP100, KIAA0130, DRIP100, CRSP100	uc002htt.3	O75448	OTTHUMG00000133329	ENST00000394128.2:c.1155-1C>A	17.37:g.38186112G>T			35439638	A8K4S5|B3KMR9|Q14143|Q9NNY5	Silent	SNP	NULL	p.R385	ENST00000394128.2	37	c.1155	CCDS11359.1	17																																																																																			-	NULL		0.562	MED24-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MED24	protein_coding	OTTHUMT00000257147.2	G	NM_014815	Silent	35439638	-1	no_errors	NM_014815	genbank	human	reviewed	54_36p	silent	SNP	0.099	T
GGA1	26088	genome.wustl.edu	37	22	38020994	38020994	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:38020994A>G	ENST00000343632.4	+	10	1237	c.851A>G	c.(850-852)aAt>aGt	p.N284S	GGA1_ENST00000337437.4_Missense_Mutation_p.N251S|GGA1_ENST00000406772.1_Missense_Mutation_p.N211S|GGA1_ENST00000381756.5_Missense_Mutation_p.N301S|GGA1_ENST00000325180.8_Intron	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	284	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					CTGCAGGCCAATGACAACCTC	0.637																																																0			22											63.0	45.0	51.0					22																	38020994		2202	4299	6501	36350940	SO:0001583	missense	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.851A>G	22.37:g.38020994A>G	ENSP00000341344:p.Asn284Ser		36350940	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Missense_Mutation	SNP	HMMPfam_VHS,superfamily_ENTH/VHS domain,HMMSmart_SM00288,superfamily_GAT-like domain,HMMPfam_GAT,superfamily_Clathrin adaptor appendage domain,HMMPfam_Alpha_adaptinC2,HMMSmart_SM00809	p.N284S	ENST00000343632.4	37	c.851	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	A	16.25	3.070155	0.55539	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000337437;ENST00000406772	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.0	5.0	0.66597	GAT (2);	0.000000	0.85682	D	0.000000	T	0.71341	0.3328	L	0.45228	1.405	0.80722	D	1	D;P	0.89917	1.0;0.725	D;P	0.91635	0.999;0.68	T	0.68746	-0.5327	10	0.29301	T	0.29	-20.7756	14.6785	0.68998	1.0:0.0:0.0:0.0	.	301;284	Q6IC75;Q9UJY5	.;GGA1_HUMAN	S	284;301;251;211	ENSP00000341344:N284S;ENSP00000371175:N301S;ENSP00000338647:N251S;ENSP00000385287:N211S	ENSP00000338647:N251S	N	+	2	0	GGA1	36350940	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	5.213000	0.65230	1.882000	0.54519	0.397000	0.26171	AAT	-	superfamily_GAT-like domain,HMMPfam_GAT		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	protein_coding	OTTHUMT00000075873.3	A	NM_013365		36350940	+1	no_errors	NM_013365	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
DSCAM	1826	genome.wustl.edu	37	21	41457639	41457639	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr21:41457639T>C	ENST00000400454.1	-	23	4499	c.4022A>G	c.(4021-4023)aAc>aGc	p.N1341S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1341	Ig-like C2-type 10.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GAAGCTTCCGTTGCTAAAGAT	0.423																																					Melanoma(134;970 1778 1785 21664 32388)											0			21											96.0	91.0	93.0					21																	41457639		1893	4134	6027	40379509	SO:0001583	missense	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.4022A>G	21.37:g.41457639T>C	ENSP00000383303:p.Asn1341Ser		40379509	O60468	Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00408,HMMSmart_SM00409,HMMPfam_I-set,HMMSmart_SM00406,HMMPfam_ig,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3	p.N1341S	ENST00000400454.1	37	c.4022	CCDS42929.1	21	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690315	0.88735	.	.	ENSG00000171587	ENST00000400454;ENST00000404019	T;T	0.27402	1.67;1.67	5.4	5.4	0.78164	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.36331	0.0963	N	0.12746	0.255	0.53005	D	0.99996	D	0.69078	0.997	D	0.69654	0.965	T	0.31696	-0.9934	10	0.38643	T	0.18	.	15.4502	0.75268	0.0:0.0:0.0:1.0	.	1341	O60469	DSCAM_HUMAN	S	1341;1093	ENSP00000383303:N1341S;ENSP00000385342:N1093S	ENSP00000383303:N1341S	N	-	2	0	DSCAM	40379509	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.850000	0.86915	2.041000	0.60428	0.533000	0.62120	AAC	-	superfamily_Immunoglobulin,HMMPfam_I-set,HMMSmart_SM00409,HMMSmart_SM00408,HMMSmart_SM00406		0.423	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	protein_coding	OTTHUMT00000195029.1	T	NM_001389		40379509	-1	no_errors	NM_001389	genbank	human	validated	54_36p	missense	SNP	1.000	C
KRTDAP	388533	genome.wustl.edu	37	19	35981337	35981337	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr19:35981337A>T	ENST00000338897.3	-	1	96	c.8T>A	c.(7-9)aTc>aAc	p.I3N	KRTDAP_ENST00000479340.1_Intron|KRTDAP_ENST00000484218.2_Missense_Mutation_p.I3N	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	3					cell differentiation (GO:0030154)	extracellular region (GO:0005576)				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAGGACCGGGATCTTCATGGC	0.607																																																0			19											139.0	108.0	119.0					19																	35981337		2203	4300	6503	40673177	SO:0001583	missense	388533			AA297512	CCDS12462.1, CCDS59377.1	19q13.12	2013-06-20			ENSG00000188508	ENSG00000188508			16313	protein-coding gene	gene with protein product						11054531	Standard	NM_207392		Approved	KDAP, UNQ467	uc002nzh.3	P60985	OTTHUMG00000155449	ENST00000338897.3:c.8T>A	19.37:g.35981337A>T	ENSP00000339251:p.Ile3Asn		40673177	A1L4D7	Missense_Mutation	SNP	NULL	p.I3N	ENST00000338897.3	37	c.8	CCDS12462.1	19	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806715	0.50421	.	.	ENSG00000188508	ENST00000338897	.	.	.	4.92	4.92	0.64577	.	0.329181	0.26542	N	0.023791	T	0.54078	0.1836	.	.	.	0.29599	N	0.847797	P	0.47191	0.891	P	0.51355	0.667	T	0.58691	-0.7592	8	0.87932	D	0	-25.926	10.8582	0.46810	1.0:0.0:0.0:0.0	.	3	P60985	KTDAP_HUMAN	N	3	.	ENSP00000339251:I3N	I	-	2	0	KRTDAP	40673177	1.000000	0.71417	1.000000	0.80357	0.418000	0.31294	3.945000	0.56637	2.073000	0.62155	0.379000	0.24179	ATC	-	NULL		0.607	KRTDAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTDAP	protein_coding	OTTHUMT00000340164.1	A			40673177	-1	no_errors	NM_207392	genbank	human	provisional	54_36p	missense	SNP	0.995	T
CYP2D6	1565	genome.wustl.edu	37	22	42524802	42524802	+	Missense_Mutation	SNP	G	G	A	rs201501394		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:42524802G>A	ENST00000360608.5	-	4	764	c.650C>T	c.(649-651)tCg>tTg	p.S217L	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Missense_Mutation_p.S217L|CYP2D6_ENST00000359033.4_Missense_Mutation_p.S166L	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	217					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CAGAAAGCCCGACTCCTCCTT	0.672																																																0			22						G	LEU/SER,LEU/SER	0,4400		0,0,2200	33.0	27.0	29.0		650,497	2.3	0.0	22		29	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	CYP2D6	NM_000106.4,NM_001025161.1	145,145	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	217/498,166/447	42524802	1,12997	2200	4299	6499	40854746	SO:0001583	missense	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.650C>T	22.37:g.42524802G>A	ENSP00000353820:p.Ser217Leu		40854746	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Missense_Mutation	SNP	HMMPfam_p450,superfamily_Cytochrome_P450,PatternScan_CYTOCHROME_P450	p.S217L	ENST00000360608.5	37	c.650	CCDS46721.1	22	.	.	.	.	.	.	.	.	.	.	g	12.25	1.882118	0.33255	0.0	1.16E-4	ENSG00000100197	ENST00000360608;ENST00000389970;ENST00000413640;ENST00000359033;ENST00000542856	T;T;T	0.70631	-0.5;-0.5;-0.5	3.37	2.35	0.29111	.	0.809840	0.11004	N	0.610193	T	0.65481	0.2695	M	0.62088	1.915	0.09310	N	1	B;B	0.19331	0.006;0.035	B;B	0.22753	0.015;0.041	T	0.58983	-0.7539	10	0.56958	D	0.05	.	6.5228	0.22285	0.1349:0.0:0.8651:0.0	.	166;217	Q6NXU8;Q6NWU0	.;.	L	217;217;163;166;166	ENSP00000353820:S217L;ENSP00000374620:S217L;ENSP00000351927:S166L	ENSP00000351927:S166L	S	-	2	0	CYP2D6	40854746	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.028000	0.13644	0.990000	0.38787	0.305000	0.20034	TCG	-	HMMPfam_p450,superfamily_Cytochrome_P450		0.672	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	protein_coding	OTTHUMT00000320525.1	G			40854746	-1	no_errors	NM_000106	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
NFYC	4802	genome.wustl.edu	37	1	41223931	41223931	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:41223931G>T	ENST00000308733.5	+	5	532	c.526G>T	c.(526-528)Ggg>Tgg	p.G176W	NFYC_ENST00000372651.1_Missense_Mutation_p.G176W|NFYC_ENST00000456393.2_Missense_Mutation_p.G176W|NFYC_ENST00000427410.2_Missense_Mutation_p.G138W|NFYC_ENST00000372654.1_Missense_Mutation_p.G176W|NFYC_ENST00000440226.3_Missense_Mutation_p.G176W|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Missense_Mutation_p.G176W|NFYC_ENST00000447388.3_Missense_Mutation_p.G176W|NFYC_ENST00000372653.1_Missense_Mutation_p.G176W|NFYC_ENST00000425457.2_Missense_Mutation_p.G176W			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma	176					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CATCCAGCCTGGGCAGATCAT	0.602																																																0			1											46.0	43.0	44.0					1																	41223931		2203	4300	6503	40996518	SO:0001583	missense	4802			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.526G>T	1.37:g.41223931G>T	ENSP00000312617:p.Gly176Trp		40996518	B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	Missense_Mutation	SNP	superfamily_Histone-fold,HMMPfam_CBFD_NFYB_HMF	p.G176W	ENST00000308733.5	37	c.526		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.3|20.3	3.959031|3.959031	0.74016|0.74016	.|.	.|.	ENSG00000066136|ENSG00000066136	ENST00000427410;ENST00000447388;ENST00000425457;ENST00000456393;ENST00000372658;ENST00000372655;ENST00000372654;ENST00000372653;ENST00000372669;ENST00000372652;ENST00000372651;ENST00000440226;ENST00000416859;ENST00000308733|ENST00000414185	T;T;T;T;T;T;T;T;T;T;T;T|.	0.58060|.	0.36;0.36;0.36;0.36;0.36;0.99;0.36;0.36;0.36;0.36;1.52;0.36|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72930|0.72930	0.3522|0.3522	M|M	0.63843|0.63843	1.955|1.955	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D;D|.	0.97110|.	0.998;1.0;1.0;0.996;1.0;0.998;0.998;0.998|.	T|T	0.70439|0.70439	-0.4871|-0.4871	10|5	0.87932|.	D|.	0|.	.|.	17.3316|17.3316	0.87265|0.87265	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	138;82;176;176;176;176;176;176|.	B4DW63;B4DVS8;Q13952;Q5T6K9;Q13952-3;F8VWM3;Q13952-2;B4DUS6|.	.;.;NFYC_HUMAN;.;.;.;.;.|.	W|L	138;176;176;176;74;74;176;176;176;176;176;176;144;176|58	ENSP00000408315:G138W;ENSP00000404427:G176W;ENSP00000396620:G176W;ENSP00000408867:G176W;ENSP00000361738:G176W;ENSP00000361737:G176W;ENSP00000361754:G176W;ENSP00000361736:G176W;ENSP00000361734:G176W;ENSP00000414299:G176W;ENSP00000409219:G144W;ENSP00000312617:G176W|.	ENSP00000312617:G176W|.	G|W	+|+	1|2	0|0	NFYC|NFYC	40996518|40996518	1.000000|1.000000	0.71417|0.71417	0.991000|0.991000	0.47740|0.47740	0.998000|0.998000	0.95712|0.95712	9.413000|9.413000	0.97351|0.97351	2.711000|2.711000	0.92665|0.92665	0.561000|0.561000	0.74099|0.74099	GGG|TGG	-	NULL		0.602	NFYC-007	KNOWN	basic	protein_coding	NFYC	protein_coding	OTTHUMT00000020802.1	G	NM_014223		40996518	+1	no_errors	NM_014223	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
STRC	161497	genome.wustl.edu	37	15	43901498	43901498	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr15:43901498G>T	ENST00000450892.2	-	16	3610	c.3533C>A	c.(3532-3534)aCc>aAc	p.T1178N	STRC_ENST00000541030.1_Missense_Mutation_p.T405N	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1178					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)	kinocilium (GO:0060091)|stereocilium bundle tip (GO:0032426)				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		GGTAAGGTTGGTGGGTACTTG	0.483																																																0			15											151.0	162.0	158.0					15																	43901498		2169	4297	6466	41688790	SO:0001583	missense	161497			BK000138	CCDS10098.1	15q15.3	2010-02-26			ENSG00000242866	ENSG00000242866			16035	protein-coding gene	gene with protein product		606440		DFNB16		11687802, 9429146	Standard	NM_153700		Approved		uc001zsf.3	Q7RTU9	OTTHUMG00000059899	ENST00000450892.2:c.3533C>A	15.37:g.43901498G>T	ENSP00000401513:p.Thr1178Asn		41688790		Missense_Mutation	SNP	NULL	p.T1178N	ENST00000450892.2	37	c.3533	CCDS10098.1	15	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442620	0.43326	.	.	ENSG00000242866	ENST00000450892;ENST00000299992;ENST00000541030	T;T	0.77098	-1.07;-1.05	4.73	4.73	0.59995	.	0.415098	0.22537	N	0.058771	T	0.71685	0.3369	N	0.24115	0.695	0.35060	D	0.761472	P;P	0.51933	0.949;0.801	P;P	0.50754	0.649;0.507	T	0.75326	-0.3357	10	0.25106	T	0.35	-4.7205	13.2324	0.59951	0.0:0.0:1.0:0.0	.	405;1178	F5GXA4;Q7RTU9	.;STRC_HUMAN	N	1178;1178;405	ENSP00000401513:T1178N;ENSP00000440413:T405N	ENSP00000299992:T1178N	T	-	2	0	STRC	41688790	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	3.687000	0.54692	2.178000	0.69098	0.556000	0.70494	ACC	-	NULL		0.483	STRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRC	protein_coding	OTTHUMT00000133140.1	G	NM_153700		41688790	-1	no_errors	NM_153700	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GRAMD4	23151	genome.wustl.edu	37	22	47064589	47064589	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr22:47064589C>T	ENST00000406902.1	+	12	1147	c.934C>T	c.(934-936)Ctt>Ttt	p.L312F	GRAMD4_ENST00000361034.3_Missense_Mutation_p.L312F			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	312					apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		CACACAGAACCTTTTCGGGAA	0.652																																																0			22											109.0	125.0	120.0					22																	47064589		2203	4300	6503	45443253	SO:0001583	missense	23151				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.934C>T	22.37:g.47064589C>T	ENSP00000385689:p.Leu312Phe		45443253	A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Missense_Mutation	SNP	HMMPfam_GRAM,HMMSmart_SM00568	p.L312F	ENST00000406902.1	37	c.934	CCDS33672.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	17.80|17.80	3.478187|3.478187	0.63849|0.63849	.|.	.|.	ENSG00000075240|ENSG00000075240	ENST00000406902;ENST00000361034|ENST00000456069	T;T|.	0.49139|.	0.79;0.79|.	4.41|4.41	4.41|4.41	0.53225|0.53225	.|.	0.082384|.	0.48767|.	D|.	0.000167|.	T|T	0.61476|0.61476	0.2350|0.2350	L|L	0.46157|0.46157	1.445|1.445	0.58432|0.58432	D|D	0.999995|0.999995	D;D|.	0.57571|.	0.98;0.975|.	P;P|.	0.57152|.	0.814;0.736|.	T|T	0.59456|0.59456	-0.7451|-0.7451	10|5	0.45353|.	T|.	0.12|.	-25.8659|-25.8659	14.9413|14.9413	0.70994|0.70994	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	134;312|.	B0QZ08;Q6IC98|.	.;GRAM4_HUMAN|.	F|L	312|134	ENSP00000385689:L312F;ENSP00000354313:L312F|.	ENSP00000354313:L312F|.	L|P	+|+	1|2	0|0	GRAMD4|GRAMD4	45443253|45443253	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.528000|0.528000	0.34623|0.34623	2.552000|2.552000	0.45828|0.45828	2.182000|2.182000	0.69389|0.69389	0.555000|0.555000	0.69702|0.69702	CTT|CCT	-	NULL		0.652	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	protein_coding	OTTHUMT00000317969.1	C	NM_015124		45443253	+1	no_errors	NM_015124	genbank	human	validated	54_36p	missense	SNP	1.000	T
DCC	1630	genome.wustl.edu	37	18	50278720	50278720	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:50278720C>T	ENST00000442544.2	+	2	1004	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	130	Ig-like C2-type 1.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTATTAGTCGGACAGCAAA	0.423																																																0			18											112.0	104.0	107.0					18																	50278720		2203	4300	6503	48532718	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.388C>T	18.37:g.50278720C>T	ENSP00000389140:p.Arg130Trp		48532718		Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig,HMMPfam_I-set,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMPfam_Neogenin_C	p.R130W	ENST00000442544.2	37	c.388	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	12.56	1.973749	0.34848	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.13657	2.57	5.06	4.15	0.48705	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	T	0.48926	0.1527	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63963	-0.6518	10	0.87932	D	0	.	12.4109	0.55466	0.2862:0.7138:0.0:0.0	.	130	P43146	DCC_HUMAN	W	130;63	ENSP00000389140:R130W	ENSP00000304146:R63W	R	+	1	2	DCC	48532718	0.872000	0.30054	0.999000	0.59377	0.960000	0.62799	1.323000	0.33701	2.354000	0.79902	0.655000	0.94253	CGG	-	superfamily_Immunoglobulin,HMMSmart_SM00409		0.423	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		48532718	+1	no_errors	NM_005215	genbank	human	validated	54_36p	missense	SNP	1.000	T
PPP1R21	129285	genome.wustl.edu	37	2	48722868	48722868	+	Silent	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:48722868C>T	ENST00000294952.8	+	16	1807	c.1650C>T	c.(1648-1650)atC>atT	p.I550I	PPP1R21_ENST00000449090.2_Intron|PPP1R21_ENST00000281394.4_Silent_p.I550I	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21	550						membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						ACCGCCGCATCCTTCTCAGCT	0.413																																																0			2											88.0	89.0	88.0					2																	48722868		2203	4300	6503	48576372	SO:0001819	synonymous_variant	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1650C>T	2.37:g.48722868C>T			48576372	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	Silent	SNP	HMMPfam_KLRAQ,HMMPfam_TTKRSYEDQ	p.I550	ENST00000294952.8	37	c.1650	CCDS46278.1	2																																																																																			-	HMMPfam_TTKRSYEDQ		0.413	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRAQ1	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48576372	+1	no_errors	NM_152994	genbank	human	validated	54_36p	silent	SNP	0.997	T
MAGED1	9500	genome.wustl.edu	37	X	51637766	51637766	+	Intron	SNP	C	C	A	rs372507787		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:51637766C>A	ENST00000375722.1	+	2	297				MAGED1_ENST00000375695.2_Missense_Mutation_p.P30H|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000494718.1_Intron			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CTCCCCCAGCCTCCTGCCTCC	0.577										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											44.0	40.0	41.0					X																	51637766		2203	4300	6503	51654506	SO:0001627	intron_variant	9500			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.45+321C>A	X.37:g.51637766C>A		978	51654506	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	HMMPfam_MAGE	p.P30H	ENST00000375722.1	37	c.89	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	10.45	1.353134	0.24512	.	.	ENSG00000179222	ENST00000375695	T	0.04083	3.71	3.45	1.53	0.23141	.	.	.	.	.	T	0.07369	0.0186	.	.	.	0.09310	N	1	B	0.25955	0.138	B	0.40329	0.326	T	0.43956	-0.9359	8	0.87932	D	0	.	4.7962	0.13274	0.0:0.6453:0.2172:0.1375	.	30	Q9Y5V3-2	.	H	30	ENSP00000364847:P30H	ENSP00000364847:P30H	P	+	2	0	MAGED1	51654506	0.004000	0.15560	0.038000	0.18304	0.263000	0.26337	1.392000	0.34486	0.111000	0.17947	0.425000	0.28330	CCT	-	NULL		0.577	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	protein_coding	OTTHUMT00000056593.1	C	NM_001005332		51654506	+1	no_errors	NM_001005333	genbank	human	reviewed	54_36p	missense	SNP	0.230	A
POM121L12	285877	genome.wustl.edu	37	7	53103790	53103790	+	Silent	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:53103790G>A	ENST00000408890.4	+	1	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	142										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721																																																0			7											21.0	25.0	23.0					7																	53103790		1945	4101	6046	53071284	SO:0001819	synonymous_variant	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.426G>A	7.37:g.53103790G>A			53071284	Q8NDI9	Silent	SNP	NULL	p.A142	ENST00000408890.4	37	c.426	CCDS43584.1	7																																																																																			-	NULL		0.721	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKFZp564N2472	protein_coding	OTTHUMT00000342656.1	G	NM_182595		53071284	+1	no_errors	NM_182595	genbank	human	validated	54_36p	silent	SNP	0.003	A
CSH2	1443	genome.wustl.edu	37	17	61949665	61949665	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:61949665G>A	ENST00000392886.2	-	5	626	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	CSH2_ENST00000560142.1_Missense_Mutation_p.R102C|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000345366.7_Missense_Mutation_p.R64C	NM_020991.3	NP_066271.1	P0DML3	CSH2_HUMAN	chorionic somatomammotropin hormone 2	159						extracellular region (GO:0005576)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(1)|lung(3)	6						CCAGTCCGGCGGCTGCCGTCT	0.547																																																0			17											73.0	76.0	75.0					17																	61949665		2203	4297	6500	59303397	SO:0001583	missense	1443			V00573	CCDS11646.1, CCDS42368.1, CCDS42369.1	17q22-q24	2012-10-02							2441	protein-coding gene	gene with protein product	"""placental lactogen"", ""chorionic somatomammotropin B"""	118820				593368, 6208192	Standard	NM_020991		Approved	hCS-B, CSB, CS-2	uc002jch.3	P0DML3		ENST00000392886.2:c.475C>T	17.37:g.61949665G>A	ENSP00000376623:p.Arg159Cys		59303397	P01243|Q0VDB1|Q14407	Missense_Mutation	SNP	HMMPfam_Hormone_1,superfamily_4-helical cytokines,PatternScan_SOMATOTROPIN_1,PatternScan_SOMATOTROPIN_2	p.R159C	ENST00000392886.2	37	c.475	CCDS42369.1	17	.	.	.	.	.	.	.	.	.	.	N	7.317	0.616164	0.14129	.	.	ENSG00000213218	ENST00000345366;ENST00000392886	D;D	0.89196	-2.48;-2.37	3.97	2.9	0.33743	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.988395	0.08248	N	0.975119	T	0.80259	0.4590	N	0.14661	0.345	0.23411	N	0.997731	P;P;P	0.43431	0.807;0.807;0.515	B;B;B	0.41088	0.347;0.347;0.027	T	0.71974	-0.4430	10	0.72032	D	0.01	.	7.045	0.25040	0.2288:0.0:0.7712:0.0	.	159;159;64	P01243;A8K6C2;B1A4H9	CSH_HUMAN;.;.	C	64;159	ENSP00000308396:R64C;ENSP00000376623:R159C	ENSP00000308396:R64C	R	-	1	0	CSH2	59303397	0.884000	0.30299	0.997000	0.53966	0.008000	0.06430	1.154000	0.31688	2.033000	0.60031	0.462000	0.41574	CGC	-	HMMPfam_Hormone_1,superfamily_4-helical cytokines		0.547	CSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSH2	protein_coding	OTTHUMT00000417657.1	G	NM_020991		59303397	-1	no_errors	NM_020991	genbank	human	reviewed	54_36p	missense	SNP	0.907	A
SERPINB3	6317	genome.wustl.edu	37	18	61325751	61325751	+	Silent	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:61325751C>A	ENST00000283752.5	-	5	608	c.465G>T	c.(463-465)acG>acT	p.T155T	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.T155T	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	155					negative regulation of catalytic activity (GO:0043086)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)|virus receptor activity (GO:0001618)	p.T155T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TCCTACCATTCGTTTGACTTT	0.448																																																1	Substitution - coding silent(1)	skin(1)	18											105.0	93.0	97.0					18																	61325751		2203	4298	6501	59476731	SO:0001819	synonymous_variant	6317			U19568	CCDS11987.1	18q21.3	2014-02-18	2005-08-18		ENSG00000057149	ENSG00000057149		"""Serine (or cysteine) peptidase inhibitors"""	10569	protein-coding gene	gene with protein product		600517	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 3"""	SCC, SCCA1		7724531, 24172014	Standard	NM_006919		Approved	T4-A, HsT1196	uc002lji.3	P29508	OTTHUMG00000060403	ENST00000283752.5:c.465G>T	18.37:g.61325751C>A			59476731	A6NDM2|B2RBT5|B3W5Y6|Q53H28|Q53YB5|Q86VF3|Q86W04|Q8IWL4|Q8IXI3|Q96J21|Q9BYF8	Silent	SNP	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093,PatternScan_SERPIN	p.T155	ENST00000283752.5	37	c.465	CCDS11987.1	18																																																																																			-	HMMPfam_Serpin,superfamily_Serpins,HMMSmart_SM00093		0.448	SERPINB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINB3	protein_coding	OTTHUMT00000133791.1	C	NM_006919		59476731	-1	no_errors	NM_006919	genbank	human	validated	54_36p	silent	SNP	0.870	A
ZNF727	442319	genome.wustl.edu	37	7	63538403	63538403	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:63538403G>T	ENST00000550760.3	+	4	1155	c.976G>T	c.(976-978)Gcc>Tcc	p.A326S	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	326					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(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						GTGGATCTCGGCCCTTAGTCA	0.393																																																0			7											39.0	37.0	38.0					7																	63538403		692	1591	2283	63175838	SO:0001583	missense	728898					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.976G>T	7.37:g.63538403G>T	ENSP00000447987:p.Ala326Ser		63175838		Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.A302S	ENST00000550760.3	37	c.904	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	G	0.673	-0.801159	0.02841	.	.	ENSG00000257482	ENST00000550760	T	0.03524	3.9	1.02	-1.26	0.09376	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.02418	0.0074	N	0.04655	-0.195	0.09310	N	1	B	0.28584	0.216	B	0.42214	0.38	T	0.52117	-0.8618	8	.	.	.	.	4.6757	0.12710	0.4601:0.0:0.5399:0.0	.	326	A8MUV8	ZN727_HUMAN	S	326	ENSP00000447987:A326S	.	A	+	1	0	ZNF727	63175838	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-3.602000	0.00418	-0.440000	0.07211	-0.436000	0.05848	GCC	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.393	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF735	protein_coding		G	NM_001159522		63175838	+1	no_stop_codon	ENST00000398732	ensembl	human	known	54_36p	missense	SNP	0.000	T
ADAMTS9	56999	genome.wustl.edu	37	3	64644277	64644277	+	Silent	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr3:64644277G>C	ENST00000498707.1	-	4	1212	c.870C>G	c.(868-870)tcC>tcG	p.S290S	ADAMTS9_ENST00000459780.1_Silent_p.S290S|ADAMTS9_ENST00000295903.4_Silent_p.S290S	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	290					glycoprotein catabolic process (GO:0006516)|multicellular organismal development (GO:0007275)|positive regulation of melanocyte differentiation (GO:0045636)|protein transport (GO:0015031)|proteolysis (GO:0006508)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		ACCGTGGATAGGATAAAAAAC	0.393																																																0			3											196.0	192.0	193.0					3																	64644277		2203	4300	6503	64619317	SO:0001819	synonymous_variant	56999			AF261918	CCDS2903.1	3p14.1	2008-05-15	2005-08-19		ENSG00000163638	ENSG00000163638		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13202	protein-coding gene	gene with protein product		605421	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9"""			10936055	Standard	NM_182920		Approved	KIAA1312	uc003dmg.3	Q9P2N4	OTTHUMG00000158722	ENST00000498707.1:c.870C>G	3.37:g.64644277G>C			64619317	A1L4L0|B7ZVX9|B9ZVN0|Q9NR29	Silent	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,HMMPfam_ADAM_spacer1,HMMPfam_GON"	p.S290	ENST00000498707.1	37	c.870	CCDS2903.1	3																																																																																			-	"superfamily_Metalloproteases (""zincins"") catalytic domain"		0.393	ADAMTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS9	protein_coding	OTTHUMT00000351891.1	G			64619317	-1	no_errors	NM_182920	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
NETO1	81832	genome.wustl.edu	37	18	70417825	70417825	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:70417825A>C	ENST00000327305.6	-	9	1670	c.1013T>G	c.(1012-1014)cTg>cGg	p.L338R	NETO1_ENST00000299430.2_Missense_Mutation_p.L337R|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.L338R	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	338					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)		GGTGTTGGTCAGCTGGTCCAG	0.443																																																0			18											63.0	46.0	52.0					18																	70417825		2203	4300	6503	68568805	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.1013T>G	18.37:g.70417825A>C	ENSP00000313088:p.Leu338Arg		68568805	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.L338R	ENST00000327305.6	37	c.1013	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	A	22.4	4.287547	0.80803	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.25414	1.8;1.8	5.17	5.17	0.71159	.	0.000000	0.49305	D	0.000141	T	0.47451	0.1446	L	0.56769	1.78	0.80722	D	1	D;D	0.76494	0.999;0.985	D;D	0.74674	0.984;0.923	T	0.48670	-0.9015	10	0.87932	D	0	-14.7266	15.3049	0.73985	1.0:0.0:0.0:0.0	.	337;338	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	R	338;337	ENSP00000313088:L338R;ENSP00000299430:L337R	ENSP00000299430:L337R	L	-	2	0	NETO1	68568805	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.283000	0.95860	2.069000	0.61940	0.374000	0.22700	CTG	-	superfamily_LDL receptor-like module		0.443	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	protein_coding	OTTHUMT00000256301.2	A	NM_138999		68568805	-1	no_errors	NM_138966	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
NETO1	81832	genome.wustl.edu	37	18	70451073	70451073	+	Silent	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:70451073C>A	ENST00000327305.6	-	7	1365	c.708G>T	c.(706-708)gtG>gtT	p.V236V	NETO1_ENST00000299430.2_Silent_p.V235V|NETO1_ENST00000583169.1_Silent_p.V236V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	236	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				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)		TTCCATCATACACAGCCACAA	0.398																																																0			18											137.0	126.0	130.0					18																	70451073		2203	4300	6503	68602053	SO:0001819	synonymous_variant	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.708G>T	18.37:g.70451073C>A			68602053	Q86W85|Q8ND78|Q8TDF4	Silent	SNP	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain,HMMSmart_SM00192,PatternScan_LDLRA_1,superfamily_LDL receptor-like module	p.V236	ENST00000327305.6	37	c.708	CCDS12000.1	18																																																																																			-	HMMPfam_CUB,HMMSmart_SM00042,superfamily_Spermadhesin CUB domain		0.398	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	protein_coding	OTTHUMT00000256301.2	C	NM_138999		68602053	-1	no_errors	NM_138966	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
CXCR3	2833	genome.wustl.edu	37	X	70836445	70836445	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:70836445C>A	ENST00000373693.3	-	2	944	c.877G>T	c.(877-879)Gaa>Taa	p.E293*	CXCR3_ENST00000373691.4_Nonsense_Mutation_p.E340*	NM_001504.1	NP_001495.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	293					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|calcium-mediated signaling (GO:0019722)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|chemokine (C-C motif) ligand 11 production (GO:0071954)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of execution phase of apoptosis (GO:1900118)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemotaxis (GO:0050921)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of leukocyte migration (GO:0002685)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|chemokine binding (GO:0019956)|chemokine receptor activity (GO:0004950)|receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					ACCCTGCTTTCTCGGCCACAG	0.622																																																0			X											72.0	53.0	60.0					X																	70836445		2203	4300	6503	70753170	SO:0001587	stop_gained	2833			U32674	CCDS14416.1, CCDS48135.1	Xq13	2012-08-08	2002-08-22	2002-08-23	ENSG00000186810	ENSG00000186810		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	4540	protein-coding gene	gene with protein product		300574	"""G protein-coupled receptor 9"""	GPR9		8666380, 9064356	Standard	NM_001142797		Approved	CKR-L2, CMKAR3, IP10-R, MigR, CD183	uc011mpx.2	P49682	OTTHUMG00000033326	ENST00000373693.3:c.877G>T	X.37:g.70836445C>A	ENSP00000362797:p.Glu293*		70753170	B2R982|O15185|Q7Z710|Q9P2T4|Q9P2T5	Nonsense_Mutation	SNP	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.E293*	ENST00000373693.3	37	c.877	CCDS14416.1	X	.	.	.	.	.	.	.	.	.	.	C	13.06	2.123133	0.37436	.	.	ENSG00000186810	ENST00000373691;ENST00000373693	.	.	.	5.21	4.33	0.51752	.	0.537109	0.19642	N	0.109440	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	12.2986	0.54862	0.0:0.8326:0.1674:0.0	.	.	.	.	X	340;293	.	ENSP00000362795:E340X	E	-	1	0	CXCR3	70753170	0.001000	0.12720	0.198000	0.23420	0.000000	0.00434	0.781000	0.26774	1.157000	0.42530	-0.337000	0.08149	GAA	-	superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1		0.622	CXCR3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCR3	protein_coding	OTTHUMT00000144141.1	C			70753170	-1	no_errors	NM_001504	genbank	human	reviewed	54_36p	nonsense	SNP	0.001	A
SALL3	27164	genome.wustl.edu	37	18	76757273	76757273	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr18:76757273G>A	ENST00000537592.2	+	3	3854	c.3854G>A	c.(3853-3855)cGc>cAc	p.R1285H	SALL3_ENST00000536229.3_Missense_Mutation_p.R1080H|SALL3_ENST00000575389.2_Missense_Mutation_p.R1213H	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	1285					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R1285H(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GCAGCCAGCCGCCCATTCACG	0.572																																																1	Substitution - Missense(1)	large_intestine(1)	18											128.0	130.0	130.0					18																	76757273		2203	4300	6503	74858261	SO:0001583	missense	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.3854G>A	18.37:g.76757273G>A	ENSP00000441823:p.Arg1285His		74858261	Q9UGH1	Missense_Mutation	SNP	HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers	p.R1285H	ENST00000537592.2	37	c.3854	CCDS12013.1	18	.	.	.	.	.	.	.	.	.	.	G	9.711	1.157041	0.21454	.	.	ENSG00000256463	ENST00000537592;ENST00000536229;ENST00000543056	T	0.41400	1.0	5.52	5.52	0.82312	.	0.000000	0.56097	D	0.000035	T	0.23886	0.0578	N	0.03238	-0.38	0.51012	D	0.999904	B;B	0.31054	0.037;0.306	B;B	0.25291	0.007;0.059	T	0.10154	-1.0642	10	0.37606	T	0.19	-58.0545	19.4741	0.94979	0.0:0.0:1.0:0.0	.	945;1285	F5GXY4;Q9BXA9	.;SALL3_HUMAN	H	1285;1213;945	ENSP00000441823:R1285H	ENSP00000299466:R1285H	R	+	2	0	SALL3	74858261	1.000000	0.71417	0.992000	0.48379	0.369000	0.29798	5.659000	0.68010	2.595000	0.87683	0.655000	0.94253	CGC	-	NULL		0.572	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	protein_coding	OTTHUMT00000256397.1	G	NM_171999		74858261	+1	no_errors	NM_171999	genbank	human	validated	54_36p	missense	SNP	0.939	A
RPTOR	57521	genome.wustl.edu	37	17	78936735	78936735	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr17:78936735G>A	ENST00000306801.3	+	33	4179	c.3817G>A	c.(3817-3819)Gtc>Atc	p.V1273I	RPTOR_ENST00000544334.2_Missense_Mutation_p.V1115I|RPTOR_ENST00000575542.1_3'UTR|CTD-2561B21.3_ENST00000571591.1_RNA	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	1273					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAGTGGCTCCGTCAATCAGTT	0.602																																																0			17											80.0	62.0	68.0					17																	78936735		2203	4300	6503	76551330	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.3817G>A	17.37:g.78936735G>A	ENSP00000307272:p.Val1273Ile		76551330	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT,superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40	p.V1273I	ENST00000306801.3	37	c.3817	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	9.362	1.068285	0.20067	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.28666	1.6;1.6	4.81	-0.25	0.13007	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.123459	0.64402	D	0.000001	T	0.18551	0.0445	L	0.40543	1.245	0.80722	D	1	B;B	0.16603	0.009;0.018	B;B	0.11329	0.006;0.004	T	0.06338	-1.0832	10	0.27082	T	0.32	.	4.7338	0.12977	0.5775:0.1519:0.2706:0.0	.	1115;1273	F5H7J5;Q8N122	.;RPTOR_HUMAN	I	1273;1115	ENSP00000307272:V1273I;ENSP00000442479:V1115I	ENSP00000307272:V1273I	V	+	1	0	RPTOR	76551330	1.000000	0.71417	0.993000	0.49108	0.296000	0.27459	4.484000	0.60271	-0.022000	0.13986	0.655000	0.94253	GTC	-	superfamily_WD40 repeat-like,HMMSmart_SM00320		0.602	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1303	protein_coding	OTTHUMT00000438125.1	G	NM_020761		76551330	+1	no_errors	NM_020761	genbank	human	validated	54_36p	missense	SNP	0.998	A
IREB2	3658	genome.wustl.edu	37	15	78775750	78775750	+	Missense_Mutation	SNP	G	G	A	rs141373267		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr15:78775750G>A	ENST00000258886.8	+	11	1536	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	RP11-650L12.1_ENST00000560094.1_RNA	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	463					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TATGAAAAGCGATTTCCAGGC	0.388													G|||	1	0.000199681	0.0	0.0	5008	,	,		15762	0.001		0.0	False		,,,				2504	0.0				NSCLC(200;764 2208 35157 49871 50830)											0			15						G	ASN/ASP	0,4392		0,0,2196	161.0	160.0	160.0		1387	5.3	1.0	15	dbSNP_134	160	1,8585	1.2+/-3.3	0,1,4292	no	missense	IREB2	NM_004136.2	23	0,1,6488	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	463/964	78775750	1,12977	2196	4293	6489	76562805	SO:0001583	missense	3658			M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.1387G>A	15.37:g.78775750G>A	ENSP00000258886:p.Asp463Asn		76562805	A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Missense_Mutation	SNP	superfamily_Aconitase iron-sulfur domain,HMMPfam_Aconitase,PatternScan_ACONITASE_1,PatternScan_ACONITASE_2,superfamily_Aconitase,HMMPfam_Aconitase_C	p.D463N	ENST00000258886.8	37	c.1387	CCDS10302.1	15	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	22.9	4.349554	0.82132	0.0	1.16E-4	ENSG00000136381	ENST00000258886	T	0.42513	0.97	5.32	5.32	0.75619	Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha, subdomain 1/3 (1);Aconitase/3-isopropylmalate dehydratase large subunit, alpha/beta/alpha (2);	0.100036	0.64402	D	0.000001	T	0.52964	0.1767	L	0.47190	1.495	0.80722	D	1	D	0.61080	0.989	P	0.54590	0.756	T	0.50591	-0.8810	10	0.48119	T	0.1	.	19.3676	0.94469	0.0:0.0:1.0:0.0	.	463	P48200	IREB2_HUMAN	N	463	ENSP00000258886:D463N	ENSP00000258886:D463N	D	+	1	0	IREB2	76562805	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.438000	0.97539	2.642000	0.89623	0.655000	0.94253	GAT	-	superfamily_Aconitase iron-sulfur domain,HMMPfam_Aconitase		0.388	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IREB2	protein_coding	OTTHUMT00000290109.3	G	NM_004136		76562805	+1	no_errors	NM_004136	genbank	human	validated	54_36p	missense	SNP	1.000	A
IFI44L	10964	genome.wustl.edu	37	1	79094655	79094655	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:79094655C>G	ENST00000370751.5	+	3	677	c.498C>G	c.(496-498)gaC>gaG	p.D166E	IFI44L_ENST00000476521.1_3'UTR|IFI44L_ENST00000342282.3_5'UTR	NM_006820.2	NP_006811.2	Q53G44	IF44L_HUMAN	interferon-induced protein 44-like	166					defense response to virus (GO:0051607)|immune response (GO:0006955)	cytoplasm (GO:0005737)				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294																																																0			1											83.0	86.0	85.0					1																	79094655		2203	4300	6503	78867243	SO:0001583	missense	10964			AB000115	CCDS687.2	1p22.3	2008-07-18	2004-11-12	2004-11-12	ENSG00000137959	ENSG00000137959			17817	protein-coding gene	gene with protein product		613975	"""chromosome 1 open reading frame 29"""	C1orf29			Standard	NM_006820		Approved	GS3686	uc010oro.2	Q53G44	OTTHUMG00000009724	ENST00000370751.5:c.498C>G	1.37:g.79094655C>G	ENSP00000359787:p.Asp166Glu		78867243	Q86TE1|Q96B64|Q99984	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases	p.D127E	ENST00000370751.5	37	c.381	CCDS687.2	1	.	.	.	.	.	.	.	.	.	.	c	2.527	-0.309342	0.05458	.	.	ENSG00000137959	ENST00000370751;ENST00000450498	T;T	0.12984	3.22;2.63	2.88	-0.401	0.12407	.	3.023850	0.02257	N	0.067257	T	0.01765	0.0056	N	0.22421	0.69	0.09310	N	0.999999	B	0.30889	0.299	B	0.28385	0.089	T	0.21552	-1.0242	10	0.06236	T	0.91	1.9621	3.5852	0.07969	0.4343:0.4337:0.0:0.132	.	166	Q53G44	IF44L_HUMAN	E	166;143	ENSP00000359787:D166E;ENSP00000400784:D143E	ENSP00000359787:D166E	D	+	3	2	IFI44L	78867243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.180000	0.16860	-0.058000	0.13177	-0.473000	0.04963	GAC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases		0.294	IFI44L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44L	protein_coding	OTTHUMT00000026834.3	C	NM_006820		78867243	+1	no_errors	NM_006820	genbank	human	validated	54_36p	missense	SNP	0.000	G
Unknown	0	genome.wustl.edu	37	X	79830321	79830321	+	IGR	SNP	A	A	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:79830321A>T								FAM46D (129511 upstream) : BRWD3 (96031 downstream)																							CACAACTGCTAGAAGGCGCCT	0.622																																																0			X																																								79716977	SO:0001628	intergenic_variant	0																															X.37:g.79830321A>T			79716977		RNA	SNP	-	NULL		37	NULL		X																																																																																			-	-	0	0.622					LOC642546			A			79716977	-1	pseudogene	XR_038841	genbank	human	model	54_36p	rna	SNP	0.041	T
CLCA4	22802	genome.wustl.edu	37	1	87045700	87045700	+	Missense_Mutation	SNP	A	A	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:87045700A>G	ENST00000370563.3	+	14	2474	c.2432A>G	c.(2431-2433)aAt>aGt	p.N811S	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	811					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		CTTCAAGTAAATACTACTGAT	0.343																																																0			1											57.0	52.0	53.0					1																	87045700		1841	4088	5929	86818288	SO:0001583	missense	22802			AF127035	CCDS41355.1	1p31-p22	2012-02-26	2009-01-29		ENSG00000016602	ENSG00000016602			2018	protein-coding gene	gene with protein product			"""chloride channel, calcium activated, family member 4"", ""chloride channel regulator 4"""			10437792	Standard	NM_012128		Approved	CaCC2	uc009wcs.3	Q14CN2	OTTHUMG00000010260	ENST00000370563.3:c.2432A>G	1.37:g.87045700A>G	ENSP00000359594:p.Asn811Ser		86818288	A8MQC9|B7Z1Q5|Q6UX81|Q9UNF7	Missense_Mutation	SNP	HMMPfam_CLCA_N,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMPfam_DUF1973	p.N811S	ENST00000370563.3	37	c.2432	CCDS41355.1	1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.504489	0.44558	.	.	ENSG00000016602	ENST00000370563	T	0.03301	3.98	5.82	4.7	0.59300	.	0.052613	0.64402	D	0.000001	T	0.09379	0.0231	M	0.83223	2.63	0.80722	D	1	D;P	0.57571	0.98;0.944	P;P	0.61328	0.887;0.818	T	0.00763	-1.1576	10	0.72032	D	0.01	-13.4845	11.2728	0.49148	0.9281:0.0:0.0719:0.0	.	363;811	Q9NXP1;Q14CN2	.;CLCA4_HUMAN	S	811	ENSP00000359594:N811S	ENSP00000359594:N811S	N	+	2	0	CLCA4	86818288	0.992000	0.36948	0.028000	0.17463	0.117000	0.20001	2.747000	0.47475	1.039000	0.40074	0.477000	0.44152	AAT	-	NULL		0.343	CLCA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA4	protein_coding	OTTHUMT00000028292.1	A	NM_012128		86818288	+1	no_errors	NM_012128	genbank	human	reviewed	54_36p	missense	SNP	0.996	G
UBTFL2	120126	genome.wustl.edu	37	11	89486213	89486213	+	lincRNA	SNP	T	T	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr11:89486213T>G	ENST00000527332.1	-	0	972																											GCCATATTCTTACCCTTAGCA	0.488																																																0			11											1.0	2.0	2.0					11																	89486213		342	1334	1676	89125861			120126																															11.37:g.89486213T>G			89125861		Missense_Mutation	SNP	superfamily_HMG-box,HMMSmart_SM00398,HMMPfam_HMG_box	p.K308Q	ENST00000527332.1	37	c.922		11																																																																																			-	superfamily_HMG-box		0.488	RP11-313I2.11-001	KNOWN	basic	lincRNA	UBTFL2	lincRNA	OTTHUMT00000395428.1	T			89125861	-1	no_errors	NM_001101321	genbank	human	provisional	54_36p	missense	SNP	0.003	G
VPS33B	26276	genome.wustl.edu	37	15	91551174	91551174	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr15:91551174C>A	ENST00000333371.3	-	7	777	c.424G>T	c.(424-426)Gcc>Tcc	p.A142S	VPS33B_ENST00000535906.1_Missense_Mutation_p.A115S|VPS33B_ENST00000535843.1_Missense_Mutation_p.A51S	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	142					lysosome localization (GO:0032418)|melanosome localization (GO:0032400)|membrane fusion (GO:0061025)|platelet alpha granule organization (GO:0070889)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule (GO:0031091)				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					AAAGAGAAGGCCCATTCATCA	0.488																																																0			15											130.0	119.0	123.0					15																	91551174		2198	4298	6496	89352178	SO:0001583	missense	26276			AF201694	CCDS10369.1, CCDS73783.1	15q26.1	2006-12-19	2006-12-19		ENSG00000184056	ENSG00000184056			12712	protein-coding gene	gene with protein product		608552	"""vacuolar protein sorting 33B (yeast homolog)"""			8996080	Standard	XM_005254887		Approved	FLJ14848	uc002bqp.1	Q9H267	OTTHUMG00000149835	ENST00000333371.3:c.424G>T	15.37:g.91551174C>A	ENSP00000327650:p.Ala142Ser		89352178	B3KQF6|Q96K14|Q9NRP6|Q9NSF3	Missense_Mutation	SNP	superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1	p.A142S	ENST00000333371.3	37	c.424	CCDS10369.1	15	.	.	.	.	.	.	.	.	.	.	C	13.12	2.140970	0.37825	.	.	ENSG00000184056	ENST00000333371;ENST00000535906;ENST00000535843;ENST00000537510	T;T;T	0.75821	-0.97;-0.97;-0.97	5.54	5.54	0.83059	.	0.314978	0.36167	N	0.002747	T	0.41627	0.1167	N	0.01789	-0.72	0.38202	D	0.940226	B;B	0.10296	0.003;0.003	B;B	0.06405	0.001;0.002	T	0.50250	-0.8850	10	0.06757	T	0.87	-13.0566	7.2113	0.25935	0.1704:0.747:0.0:0.0826	.	115;142	F5H008;Q9H267	.;VP33B_HUMAN	S	142;115;51;97	ENSP00000327650:A142S;ENSP00000444053:A115S;ENSP00000446267:A51S	ENSP00000327650:A142S	A	-	1	0	VPS33B	89352178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.829000	0.27449	2.884000	0.98904	0.655000	0.94253	GCC	-	superfamily_Sec1/munc18-like (SM) proteins,HMMPfam_Sec1		0.488	VPS33B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS33B	protein_coding	OTTHUMT00000313496.1	C	NM_018668		89352178	-1	no_errors	NM_018668	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NECAB1	64168	genome.wustl.edu	37	8	91813934	91813934	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:91813934G>A	ENST00000417640.2	+	2	452	c.115G>A	c.(115-117)Gac>Aac	p.D39N	NECAB1_ENST00000521954.1_3'UTR	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	39	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			GAGGAGAGCAGACAAAAATGG	0.289																																																0			8											22.0	22.0	22.0					8																	91813934		1724	3886	5610	91883110	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.115G>A	8.37:g.91813934G>A	ENSP00000387380:p.Asp39Asn		91883110	Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1,superfamily_Dimeric alpha beta barrel,HMMPfam_ABM	p.D39N	ENST00000417640.2	37	c.115	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538214	0.85917	.	.	ENSG00000123119	ENST00000417640	D	0.97710	-4.5	5.38	5.38	0.77491	EF-hand-like domain (1);	.	.	.	.	D	0.98658	0.9550	M	0.87456	2.885	0.80722	D	1	D	0.71674	0.998	D	0.67900	0.954	D	0.99066	1.0832	9	0.87932	D	0	-0.8013	14.5095	0.67774	0.0:0.0:1.0:0.0	.	39	Q8N987	NECA1_HUMAN	N	39	ENSP00000387380:D39N	ENSP00000387380:D39N	D	+	1	0	NECAB1	91883110	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.457000	0.60088	2.793000	0.96121	0.655000	0.94253	GAC	-	superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,PatternScan_EF_HAND_1		0.289	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	protein_coding	OTTHUMT00000376728.1	G	NM_022351		91883110	+1	no_errors	NM_022351	genbank	human	validated	54_36p	missense	SNP	1.000	A
FRMPD3	84443	genome.wustl.edu	37	X	106806394	106806394	+	Silent	SNP	T	T	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:106806394T>A	ENST00000276185.4	+	12	1179	c.1179T>A	c.(1177-1179)ccT>ccA	p.P393P				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	393	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.					cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATGAACTTCCTACCTTCACGG	0.532																																																0			X											87.0	77.0	80.0					X																	106806394		876	1991	2867	106693050	SO:0001819	synonymous_variant	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.1179T>A	X.37:g.106806394T>A			106693050	Q96JK8	Silent	SNP	PatternScan_FERM_1,PatternScan_FERM_2,superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M	p.P393	ENST00000276185.4	37	c.1179		X																																																																																			-	HMMSmart_B41,superfamily_FERM_3-hlx,HMMPfam_FERM_M		0.532	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	protein_coding		T	XM_042978		106693050	+1	no_errors	XM_042978	genbank	human	model	54_36p	silent	SNP	0.988	A
MYO16	23026	genome.wustl.edu	37	13	109318412	109318412	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr13:109318412G>C	ENST00000357550.2	+	1	182	c.141G>C	c.(139-141)agG>agC	p.R47S	MYO16_ENST00000251041.5_Missense_Mutation_p.R47S|MYO16_ENST00000356711.2_Missense_Mutation_p.R47S	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCCTGAAAAGGCTGAAGCATG	0.488																																																0			13											80.0	71.0	74.0					13																	109318412		2203	4300	6503	108116413	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.141G>C	13.37:g.109318412G>C	ENSP00000350160:p.Arg47Ser		108116413		Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00242,HMMPfam_Myosin_head,HMMPfam_IQ	p.R47S	ENST00000357550.2	37	c.141	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	6.648	0.488029	0.12641	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.80653	-1.4;-1.4;-1.14	5.37	0.434	0.16539	.	0.218757	0.21502	U	0.073501	T	0.58481	0.2125	N	0.24115	0.695	0.09310	N	1	B;P	0.35433	0.034;0.501	B;B	0.24394	0.053;0.039	T	0.47032	-0.9148	9	.	.	.	.	6.5156	0.22246	0.4288:0.1186:0.4526:0.0	.	47;47	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	S	47	ENSP00000349145:R47S;ENSP00000350160:R47S;ENSP00000251041:R47S	.	R	+	3	2	MYO16	108116413	0.041000	0.20044	0.003000	0.11579	0.096000	0.18686	0.168000	0.16622	-0.016000	0.14127	0.650000	0.86243	AGG	-	superfamily_Ankyrin repeat		0.488	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	protein_coding	OTTHUMT00000045746.1	G	NM_015011		108116413	+1	no_errors	NM_015011	genbank	human	validated	54_36p	missense	SNP	0.000	C
TDRD1	56165	genome.wustl.edu	37	10	115978328	115978328	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr10:115978328C>T	ENST00000369280.1	+	18	2939	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	TDRD1_ENST00000251864.2_Missense_Mutation_p.R827W|TDRD1_ENST00000422662.1_Missense_Mutation_p.R431W|TDRD1_ENST00000369282.1_Missense_Mutation_p.R827W|TDRD1_ENST00000369281.2_Intron			Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	827					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ cell development (GO:0007281)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)	metal ion binding (GO:0046872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		TCAGGGAATACGGTGCCAGTT	0.338																																																0			10											103.0	96.0	99.0					10																	115978328		2203	4300	6503	115968318	SO:0001583	missense	56165			AF285606	CCDS7588.1	10q26.11	2013-01-23			ENSG00000095627	ENSG00000095627		"""Tudor domain containing"""	11712	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.1"""	605796				11279525	Standard	NM_198795		Approved	CT41.1	uc001lbg.1	Q9BXT4	OTTHUMG00000019083	ENST00000369280.1:c.2479C>T	10.37:g.115978328C>T	ENSP00000358286:p.Arg827Trp		115968318	A6NEN3|A6NMN2|B3KVI4|B4E2L5|D3DRC2|Q4G0Y8|Q6P518|Q9H7B3	Missense_Mutation	SNP	HMMPfam_zf-MYND,PatternScan_ZF_MYND_1,HMMPfam_TUDOR,superfamily_SSF63748,HMMSmart_TUDOR	p.R827W	ENST00000369280.1	37	c.2479		10	.	.	.	.	.	.	.	.	.	.	C	14.32	2.500204	0.44455	.	.	ENSG00000095627	ENST00000369282;ENST00000251864;ENST00000422662;ENST00000369280	T;T;T;T	0.11063	2.81;2.81;2.81;2.81	5.79	4.87	0.63330	Maternal tudor protein (1);	0.614126	0.18240	N	0.147278	T	0.30448	0.0765	M	0.80616	2.505	0.29271	N	0.870644	D;D;D	0.89917	1.0;0.998;0.997	P;P;P	0.59424	0.857;0.828;0.736	T	0.22277	-1.0221	10	0.72032	D	0.01	-1.0842	12.3254	0.55007	0.409:0.591:0.0:0.0	.	431;827;827	Q9BXT4-4;Q9BXT4;Q9BXT4-3	.;TDRD1_HUMAN;.	W	827;827;431;827	ENSP00000358288:R827W;ENSP00000251864:R827W;ENSP00000402794:R431W;ENSP00000358286:R827W	ENSP00000251864:R827W	R	+	1	2	TDRD1	115968318	0.994000	0.37717	0.931000	0.37212	0.118000	0.20060	2.020000	0.41010	1.388000	0.46506	0.561000	0.74099	CGG	-	HMMPfam_TUDOR		0.338	TDRD1-001	KNOWN	basic	protein_coding	TDRD1	protein_coding	OTTHUMT00000050457.2	C			115968318	+1	no_errors	NM_198795	genbank	human	reviewed	54_36p	missense	SNP	0.935	T
SPRY1	10252	genome.wustl.edu	37	4	124323324	124323324	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr4:124323324C>A	ENST00000394339.2	+	2	918	c.578C>A	c.(577-579)aCt>aAt	p.T193N	SPRY1_ENST00000339241.1_Missense_Mutation_p.T193N	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	193	Cys-rich.|SPR. {ECO:0000255|PROSITE- ProRule:PRU00572}.				epidermal growth factor receptor signaling pathway (GO:0007173)|multicellular organismal development (GO:0007275)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GGAGAATGCACTGCTCCCAGG	0.502																																																0			4											181.0	151.0	161.0					4																	124323324		2203	4300	6503	124542774	SO:0001583	missense	10252			AF041037	CCDS3731.1	4q	2009-04-17	2001-11-28		ENSG00000164056	ENSG00000164056			11269	protein-coding gene	gene with protein product		602465	"""sprouty (Drosophila) homolog 1 (antagonist of FGF signaling)"""			9458049, 15962011	Standard	NM_001258038		Approved	hSPRY1	uc003ifa.4	O43609	OTTHUMG00000133071	ENST00000394339.2:c.578C>A	4.37:g.124323324C>A	ENSP00000377871:p.Thr193Asn		124542774	D3DNX6|Q6PNE0	Missense_Mutation	SNP	HMMPfam_Sprouty	p.T193N	ENST00000394339.2	37	c.578	CCDS3731.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.203078	0.79127	.	.	ENSG00000164056	ENST00000339241;ENST00000507703;ENST00000394339	T;T;T	0.57595	0.39;1.07;0.39	5.06	5.06	0.68205	.	0.000000	0.85682	D	0.000000	T	0.71945	0.3400	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.71925	-0.4445	9	.	.	.	-13.5863	18.2393	0.89961	0.0:1.0:0.0:0.0	.	193	O43609	SPY1_HUMAN	N	193	ENSP00000343785:T193N;ENSP00000421036:T193N;ENSP00000377871:T193N	.	T	+	2	0	SPRY1	124542774	1.000000	0.71417	0.966000	0.40874	0.960000	0.62799	5.266000	0.65525	2.622000	0.88805	0.561000	0.74099	ACT	-	HMMPfam_Sprouty		0.502	SPRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPRY1	protein_coding	OTTHUMT00000256711.1	C			124542774	+1	no_errors	NM_005841	genbank	human	validated	54_36p	missense	SNP	0.997	A
RIMBP2	23504	genome.wustl.edu	37	12	130926887	130926887	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr12:130926887G>A	ENST00000261655.4	-	8	1122	c.959C>T	c.(958-960)cCg>cTg	p.P320L	RIMBP2_ENST00000535703.1_Missense_Mutation_p.P228L|RIMBP2_ENST00000536002.1_Missense_Mutation_p.P228L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	320	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of phosphatase activity (GO:0010923)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|synapse (GO:0045202)				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGCACCGCCGGGGGCTCCCA	0.557																																																0			12											129.0	127.0	128.0					12																	130926887		2203	4300	6503	129492840	SO:0001583	missense	23504			AB002316	CCDS31925.1	12q24.33	2014-06-13				ENSG00000060709			30339	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 133"""	611602				10748113	Standard	NM_015347		Approved	KIAA0318, RBP2, MGC15831, RIM-BP2, PPP1R133	uc001uil.2	O15034		ENST00000261655.4:c.959C>T	12.37:g.130926887G>A	ENSP00000261655:p.Pro320Leu		129492840	Q96ID2	Missense_Mutation	SNP	superfamily_SH3-domain,HMMSmart_SM00326,HMMPfam_SH3_2,superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060	p.P320L	ENST00000261655.4	37	c.959	CCDS31925.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.324244	0.81580	.	.	ENSG00000060709	ENST00000261655;ENST00000392375;ENST00000535703;ENST00000536002	T;T;T	0.62498	0.02;0.02;0.02	4.28	4.28	0.50868	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81659	0.4869	M	0.87456	2.885	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.85723	0.1326	10	0.62326	D	0.03	-30.4208	16.708	0.85377	0.0:0.0:1.0:0.0	.	228;320	O15034-2;O15034	.;RIMB2_HUMAN	L	320;228;228;228	ENSP00000261655:P320L;ENSP00000440347:P228L;ENSP00000439159:P228L	ENSP00000261655:P320L	P	-	2	0	RIMBP2	129492840	1.000000	0.71417	0.998000	0.56505	0.747000	0.42532	9.811000	0.99226	1.911000	0.55334	0.436000	0.28706	CCG	-	superfamily_Fibronectin type III,HMMPfam_fn3,HMMSmart_SM00060		0.557	RIMBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMBP2	protein_coding	OTTHUMT00000399520.1	G	NM_015347		129492840	-1	no_errors	NM_015347	genbank	human	validated	54_36p	missense	SNP	1.000	A
ZFAT	57623	genome.wustl.edu	37	8	135596164	135596164	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr8:135596164G>C	ENST00000377838.3	-	10	2972	c.2798C>G	c.(2797-2799)aCt>aGt	p.T933S	ZFAT_ENST00000517307.1_5'UTR|ZFAT_ENST00000520214.1_Missense_Mutation_p.T921S|ZFAT_ENST00000523399.1_Missense_Mutation_p.T871S|ZFAT_ENST00000520727.1_Missense_Mutation_p.T921S|ZFAT_ENST00000429442.2_Missense_Mutation_p.T921S|ZFAT_ENST00000520356.1_Missense_Mutation_p.T921S	NM_001174157.1|NM_020863.3	NP_001167628.1|NP_065914.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	933					hematopoietic progenitor cell differentiation (GO:0002244)|spongiotrophoblast layer development (GO:0060712)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGTTTTCTCAGTGCTGTGACG	0.433																																																0			8											140.0	123.0	128.0					8																	135596164		1945	4166	6111	135665346	SO:0001583	missense	57623			BC025423	CCDS43768.1, CCDS47924.1, CCDS43768.2, CCDS55275.1, CCDS55276.1	8q24.23	2008-06-05	2008-01-25	2008-01-25	ENSG00000066827	ENSG00000066827		"""Zinc fingers, C2H2-type"""	19899	protein-coding gene	gene with protein product		610931	"""zinc finger protein 406"""	ZNF406, ZFAT1		10819331, 18329245	Standard	NM_020863		Approved	KIAA1485	uc003yup.3	Q9P243	OTTHUMG00000164321	ENST00000377838.3:c.2798C>G	8.37:g.135596164G>C	ENSP00000367069:p.Thr933Ser		135665346	B7ZL15|E9PER3|Q3MIM5|Q6PJ01|Q75PJ6|Q75PJ7|Q75PJ9|Q86X64	Missense_Mutation	SNP	HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,PatternScan_SUGAR_TRANSPORT_1	p.T933S	ENST00000377838.3	37	c.2798	CCDS47924.1	8	.	.	.	.	.	.	.	.	.	.	G	15.20	2.762546	0.49574	.	.	ENSG00000066827	ENST00000520356;ENST00000520727;ENST00000429442;ENST00000377838;ENST00000520214;ENST00000318135;ENST00000523399	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.68	5.68	0.88126	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.063431	0.64402	D	0.000007	T	0.31071	0.0785	N	0.03891	-0.335	0.42244	D	0.991949	D;D;D	0.89917	1.0;0.975;0.999	D;D;D	0.87578	0.998;0.955;0.996	T	0.51841	-0.8654	10	0.62326	D	0.03	-16.4646	18.7762	0.91912	0.0:0.0:1.0:0.0	.	871;921;933	E9PER3;E9PBN4;Q9P243	.;.;ZFAT_HUMAN	S	921;921;921;933;921;820;871	ENSP00000427879:T921S;ENSP00000427831:T921S;ENSP00000394501:T921S;ENSP00000367069:T933S;ENSP00000428483:T921S;ENSP00000429091:T871S	ENSP00000326997:T820S	T	-	2	0	ZFAT	135665346	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.934000	0.56553	2.669000	0.90835	0.563000	0.77884	ACT	-	superfamily_C2H2 and C2HC zinc fingers		0.433	ZFAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAT	protein_coding	OTTHUMT00000378272.1	G	NM_001029939		135665346	-1	no_errors	NM_020863	genbank	human	validated	54_36p	missense	SNP	1.000	C
CTAGE15	441294	genome.wustl.edu	37	7	143270363	143270363	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:143270363C>G	ENST00000420911.2	+	1	1470	c.1453C>G	c.(1453-1455)Cac>Gac	p.H485D	RNU6-162P_ENST00000516228.1_RNA	NM_001008747.1	NP_001008747.1	A4D2H0	CTGEF_HUMAN	CTAGE family, member 15	485						integral component of membrane (GO:0016021)											AGAAAATGCTCACAACAAACA	0.358																																																0			7											3.0	4.0	3.0					7																	143270363		786	1796	2582	142980485	SO:0001583	missense	441294				CCDS64788.1	7q35	2013-02-25	2013-02-25	2013-02-25	ENSG00000176227	ENSG00000271079			37295	protein-coding gene	gene with protein product			"""CTAGE family, member 15, pseudogene"""	CTAGE15P			Standard	NM_001008747		Approved		uc011kth.3	A4D2H0	OTTHUMG00000153233	ENST00000420911.2:c.1453C>G	7.37:g.143270363C>G	ENSP00000474204:p.His485Asp		142980485	A6H8Z8	Missense_Mutation	SNP	NULL	p.H485D	ENST00000420911.2	37	c.1453		7																																																																																			-	NULL		0.358	CTAGE15-001	KNOWN	basic|appris_principal	protein_coding	LOC441294	protein_coding	OTTHUMT00000330280.2	C	NM_001008747		142980485	+1	no_errors	NM_001008747	genbank	human	predicted	54_36p	missense	SNP	0.985	G
FAM115A	9747	genome.wustl.edu	37	7	143555937	143555937	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:143555937C>T	ENST00000479870.1	-	7	2693	c.2485G>A	c.(2485-2487)Gca>Aca	p.A829T	FAM115A_ENST00000392900.3_5'UTR|FAM115A_ENST00000355951.2_Missense_Mutation_p.A829T	NM_001206938.1|NM_001206941.1|NM_014719.2	NP_001193867.1|NP_001193870.1|NP_055534	Q9Y4C2	F115A_HUMAN	family with sequence similarity 115, member A	829	Peptidase M60.									NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					GTTTCCAGTGCGGTCCATGCA	0.532																																																0			7											2.0	2.0	2.0					7																	143555937		879	1865	2744	143186870	SO:0001583	missense	9747			AB018281	CCDS5886.1, CCDS56514.1	7q35	2011-05-03	2006-03-23	2006-03-23	ENSG00000198420	ENSG00000198420			22201	protein-coding gene	gene with protein product						9872452	Standard	NM_014719		Approved	KIAA0738	uc003wdo.2	Q9Y4C2	OTTHUMG00000157773	ENST00000479870.1:c.2485G>A	7.37:g.143555937C>T	ENSP00000419235:p.Ala829Thr		143186870	A8K6E0|Q75KM8|Q75KM9|Q7L665|Q9BW63	Missense_Mutation	SNP	NULL	p.A829T	ENST00000479870.1	37	c.2485	CCDS5886.1	7	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839501	0.71488	.	.	ENSG00000198420	ENST00000479870;ENST00000355951	.	.	.	3.21	3.21	0.36854	.	0.000000	0.85682	D	0.000000	T	0.80979	0.4728	M	0.90145	3.09	0.38002	D	0.934259	D	0.89917	1.0	D	0.97110	1.0	D	0.86326	0.1695	9	0.66056	D	0.02	-15.0825	12.6981	0.57016	0.0:1.0:0.0:0.0	.	829	Q9Y4C2	F115A_HUMAN	T	829	.	ENSP00000348220:A829T	A	-	1	0	FAM115A	143186870	1.000000	0.71417	0.836000	0.33094	0.974000	0.67602	5.115000	0.64655	2.102000	0.63906	0.655000	0.94253	GCA	-	NULL		0.532	FAM115A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM115A	protein_coding	OTTHUMT00000349583.1	C	NM_014719		143186870	-1	no_errors	NM_014719	genbank	human	predicted	54_36p	missense	SNP	0.927	T
NUDT17	200035	genome.wustl.edu	37	1	145587453	145587453	+	Silent	SNP	G	G	A	rs142717400	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:145587453G>A	ENST00000334513.5	-	6	638	c.627C>T	c.(625-627)agC>agT	p.S209S	NUDT17_ENST00000444015.2_5'UTR	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	209	Nudix hydrolase. {ECO:0000255|PROSITE- ProRule:PRU00794}.						hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACATAAGGGCGCTCACCTCAT	0.597													G|||	71	0.0141773	0.0522	0.0029	5008	,	,		17495	0.0		0.0	False		,,,				2504	0.0															0			1						G		194,4212	122.5+/-159.9	2,190,2011	116.0	116.0	116.0		627	-8.1	0.1	1	dbSNP_134	116	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NUDT17	NM_001012758.2		2,193,6308	AA,AG,GG		0.0349,4.4031,1.5147		209/329	145587453	197,12809	2203	4300	6503	144298810	SO:0001819	synonymous_variant	200035			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.627C>T	1.37:g.145587453G>A			144298810		Silent	SNP	PatternScan_NUDIX,superfamily_NUDIX_hydrolase,HMMPfam_NUDIX	p.S209	ENST00000334513.5	37	c.627	CCDS30830.1	1	29	0.013278388278388278	28	0.056910569105691054	1	0.0027624309392265192	0	0.0	0	0.0	G	5.206	0.223489	0.09863	0.044031	3.49E-4	ENSG00000186364	ENST00000444015	.	.	.	5.06	-8.11	0.01082	.	.	.	.	.	T	0.35537	0.0935	.	.	.	0.50039	D	0.999849	.	.	.	.	.	.	T	0.56141	-0.8028	4	.	.	.	-6.3355	11.1844	0.48646	0.6739:0.0951:0.231:0.0	.	.	.	.	C	103	.	.	R	-	1	0	NUDT17	144298810	0.248000	0.23930	0.077000	0.20336	0.610000	0.37248	-1.033000	0.03571	-1.623000	0.01558	-0.137000	0.14449	CGC	-	superfamily_NUDIX_hydrolase,HMMPfam_NUDIX		0.597	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT17	protein_coding	OTTHUMT00000038541.3	G	XM_496395		144298810	-1	no_errors	NM_001012758	genbank	human	validated	54_36p	silent	SNP	0.558	A
SLC36A2	153201	genome.wustl.edu	37	5	150712790	150712790	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr5:150712790C>G	ENST00000335244.4	-	7	967	c.838G>C	c.(838-840)Ggt>Cgt	p.G280R	SLC36A2_ENST00000450886.1_5'Flank|SLC36A2_ENST00000521967.1_Missense_Mutation_p.G280R	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	280					amino acid transport (GO:0006865)|ion transport (GO:0006811)|proline transmembrane transport (GO:0035524)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)|hydrogen:amino acid symporter activity (GO:0005280)|L-alanine transmembrane transporter activity (GO:0015180)|L-proline transmembrane transporter activity (GO:0015193)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Cycloserine(DB00260)	CTTACCACACCAATGCTTTCA	0.498																																																0			5											98.0	95.0	96.0					5																	150712790		2203	4300	6503	150692983	SO:0001583	missense	153201			AY162214	CCDS4315.1	5q33.1	2013-05-22			ENSG00000186335	ENSG00000186335		"""Solute carriers"""	18762	protein-coding gene	gene with protein product		608331				11959859	Standard	NM_181776		Approved	PAT2, tramdorin, TRAMD1	uc003lty.3	Q495M3	OTTHUMG00000130129	ENST00000335244.4:c.838G>C	5.37:g.150712790C>G	ENSP00000334223:p.Gly280Arg		150692983	Q495M4|Q495M6|Q6ZWK5|Q7Z6B5	Missense_Mutation	SNP	HMMPfam_Aa_trans	p.G280R	ENST00000335244.4	37	c.838	CCDS4315.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.636175|4.636175	0.87760|0.87760	.|.	.|.	ENSG00000186335|ENSG00000186335	ENST00000335244;ENST00000521967|ENST00000523044	T;T|.	0.02345|.	4.33;4.33|.	4.71|4.71	4.71|4.71	0.59529|0.59529	.|.	0.102446|.	0.64402|.	D|.	0.000003|.	D|D	0.86527|0.86527	0.5954|0.5954	M|M	0.93241|0.93241	3.395|3.395	0.80722|0.80722	D|D	1|1	D;D|.	0.71674|.	0.998;0.991|.	D;D|.	0.71656|.	0.974;0.956|.	D|D	0.90131|0.90131	0.4206|0.4206	10|5	0.87932|.	D|.	0|.	-16.0714|-16.0714	17.8308|17.8308	0.88682|0.88682	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	280;280|.	E5RJJ5;Q495M3|.	.;S36A2_HUMAN|.	R|F	280|32	ENSP00000334223:G280R;ENSP00000430535:G280R|.	ENSP00000334223:G280R|.	G|L	-|-	1|3	0|2	SLC36A2|SLC36A2	150692983|150692983	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.317000|7.317000	0.79018|0.79018	2.612000|2.612000	0.88384|0.88384	0.585000|0.585000	0.79938|0.79938	GGT|TTG	-	HMMPfam_Aa_trans		0.498	SLC36A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC36A2	protein_coding	OTTHUMT00000252437.1	C			150692983	-1	no_errors	NM_181776	genbank	human	validated	54_36p	missense	SNP	1.000	G
FABP5P10	344332	genome.wustl.edu	37	2	152042837	152042837	+	lincRNA	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:152042837T>C	ENST00000447078.1	-	0	0																											GACTGTATCATCACTTGTGAT	0.448																																																0			2																																								151751083			344332																															2.37:g.152042837T>C			151751083		Missense_Mutation	SNP	superfamily_Lipocalins,HMMPfam_Lipocalin,PatternScan_FABP	p.I143T	ENST00000447078.1	37	c.428		2																																																																																			-	superfamily_Lipocalins,HMMPfam_Lipocalin		0.448	AC018731.3-001	KNOWN	basic	lincRNA	LOC344332	lincRNA	OTTHUMT00000332398.1	T			151751083	+1	pseudogene	XM_001125944	genbank	human	model	54_36p	missense	SNP	0.693	C
SYNE1	23345	genome.wustl.edu	37	6	152770678	152770678	+	Missense_Mutation	SNP	C	C	T	rs201354687		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:152770678C>T	ENST00000367255.5	-	28	4095	c.3494G>A	c.(3493-3495)cGt>cAt	p.R1165H	SYNE1_ENST00000367253.4_Missense_Mutation_p.R1165H|SYNE1_ENST00000448038.1_Missense_Mutation_p.R1172H|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1172H|SYNE1_ENST00000367248.3_Missense_Mutation_p.R1155H|SYNE1_ENST00000413186.2_Missense_Mutation_p.R1165H|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1231H|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1165H	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1165					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		TTCAACGGCACGTTTAACCTC	0.398										HNSCC(10;0.0054)																																						0			6											117.0	108.0	111.0					6																	152770678		2203	4300	6503	152812371	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.3494G>A	6.37:g.152770678C>T	ENSP00000356224:p.Arg1165His		152812371	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMSmart_SM00150,HMMPfam_Spectrin,HMMPfam_KASH	p.R1165H	ENST00000367255.5	37	c.3494	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	11.59	1.684630	0.29872	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186	T;T;T;T;T;T;T;T	0.36340	1.26;1.26;1.26;1.26;1.26;1.26;1.26;1.26	6.07	-11.5	0.00074	.	1.666390	0.03071	N	0.157160	T	0.03305	0.0096	N	0.03115	-0.41	0.09310	N	1	B;B;B;B;B;B	0.06786	0.001;0.0;0.001;0.001;0.0;0.001	B;B;B;B;B;B	0.06405	0.0;0.001;0.002;0.001;0.001;0.002	T	0.08554	-1.0716	10	0.12766	T	0.61	.	8.6336	0.33935	0.078:0.1264:0.1102:0.6853	.	1148;1165;1155;1165;1165;1172	B3W695;Q8NF91;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.	H	1165;1172;1165;1172;1231;1165;1155;1165	ENSP00000356224:R1165H;ENSP00000396024:R1172H;ENSP00000265368:R1165H;ENSP00000390975:R1172H;ENSP00000341887:R1231H;ENSP00000356222:R1165H;ENSP00000356217:R1155H;ENSP00000414510:R1165H	ENSP00000265368:R1165H	R	-	2	0	SYNE1	152812371	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.926000	0.03988	-1.984000	0.00985	-0.793000	0.03317	CGT	-	superfamily_Spectrin repeat		0.398	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152812371	-1	no_errors	NM_182961	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
PTPRN2	5799	genome.wustl.edu	37	7	157387960	157387960	+	Silent	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr7:157387960C>T	ENST00000389418.4	-	17	2475	c.2466G>A	c.(2464-2466)ccG>ccA	p.P822P	PTPRN2_ENST00000404321.2_Silent_p.P845P|PTPRN2_ENST00000389413.3_Silent_p.P793P|PTPRN2_ENST00000409483.1_Silent_p.P784P|PTPRN2_ENST00000389416.4_Silent_p.P805P	NM_002847.3	NP_002838.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	822	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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)	p.P822P(1)		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)		TGGCGGGCAGCGGTCCCTGGG	0.517																																																1	Substitution - coding silent(1)	lung(1)	7											58.0	65.0	63.0					7																	157387960		2203	4300	6503	157080721	SO:0001819	synonymous_variant	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.2466G>A	7.37:g.157387960C>T			157080721	E9PC57|Q8N4I5|Q92662|Q9Y4F8|Q9Y4I6	Silent	SNP	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase,HMMSmart_SM00404,PatternScan_TYR_PHOSPHATASE_1	p.P822	ENST00000389418.4	37	c.2466	CCDS5947.1	7																																																																																			-	superfamily_(Phosphotyrosine protein) phosphatases II,HMMSmart_SM00194,HMMPfam_Y_phosphatase		0.517	PTPRN2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTPRN2	protein_coding	OTTHUMT00000353214.1	C			157080721	-1	no_errors	NM_002847	genbank	human	reviewed	54_36p	silent	SNP	0.949	T
PNLDC1	154197	genome.wustl.edu	37	6	160240002	160240002	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:160240002A>T	ENST00000610273.1	+	17	1420	c.1249A>T	c.(1249-1251)Agt>Tgt	p.S417C	PNLDC1_ENST00000392167.3_Missense_Mutation_p.S428C	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1	417						integral component of membrane (GO:0016021)|nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGATTATCCCAGTATCCGACC	0.443																																																0			6											96.0	101.0	100.0					6																	160240002		2203	4300	6503	160159992	SO:0001583	missense	154197			AK097559	CCDS5271.1, CCDS5271.2, CCDS64561.1	6q25.3	2008-02-05			ENSG00000146453	ENSG00000146453			21185	protein-coding gene	gene with protein product							Standard	NM_001271862		Approved	FLJ40240, dJ195P10.2	uc003qsy.2	Q8NA58	OTTHUMG00000015941	ENST00000610273.1:c.1249A>T	6.37:g.160240002A>T	ENSP00000476448:p.Ser417Cys		160159992	Q5TAP7|Q8N7X5	Missense_Mutation	SNP	superfamily_Ribonuclease H-like,HMMPfam_CAF1	p.S417C	ENST00000610273.1	37	c.1249	CCDS5271.1	6	.	.	.	.	.	.	.	.	.	.	A	9.715	1.158091	0.21454	.	.	ENSG00000146453	ENST00000275275;ENST00000392167	.	.	.	4.57	2.17	0.27698	.	0.300780	0.29106	N	0.013128	T	0.06234	0.0161	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.001	T	0.32929	-0.9888	9	0.36615	T	0.2	.	4.169	0.10320	0.6673:0.0:0.1728:0.1599	.	428;417	Q8NA58-2;Q8NA58	.;PNDC1_HUMAN	C	417;428	.	ENSP00000275275:S417C	S	+	1	0	PNLDC1	160159992	0.988000	0.35896	0.381000	0.26106	0.953000	0.61014	1.601000	0.36773	0.282000	0.22254	-0.543000	0.04237	AGT	-	NULL		0.443	PNLDC1-201	KNOWN	basic|CCDS	protein_coding	PNLDC1	protein_coding		A	NM_173516		160159992	+1	no_errors	NM_173516	genbank	human	provisional	54_36p	missense	SNP	0.018	T
OTOL1	131149	genome.wustl.edu	37	3	161221252	161221252	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr3:161221252G>A	ENST00000327928.4	+	4	956	c.956G>A	c.(955-957)cGa>cAa	p.R319Q		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	319	Collagen-like 3.					collagen trimer (GO:0005581)|extracellular region (GO:0005576)				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AAAGGGGTCCGAGGCCCCACT	0.567																																																0			3											30.0	31.0	30.0					3																	161221252		1864	4095	5959	162703946	SO:0001583	missense	131149				CCDS46948.1	3q26.1	2011-05-19	2011-05-19			ENSG00000182447			34071	protein-coding gene	gene with protein product	"""C1q and tumor necrosis factor related protein 15"""		"""otolin 1 homolog (zebrafish)"""			17544811, 15905077	Standard	NM_001080440		Approved	C1QTNF15	uc011bpb.2	A6NHN0		ENST00000327928.4:c.956G>A	3.37:g.161221252G>A	ENSP00000330808:p.Arg319Gln		162703946		Missense_Mutation	SNP	HMMPfam_Collagen,HMMSmart_C1Q,superfamily_TNF_like,HMMPfam_C1q	p.R319Q	ENST00000327928.4	37	c.956	CCDS46948.1	3	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570392	0.28003	.	.	ENSG00000182447	ENST00000327928	D	0.93604	-3.25	5.23	4.36	0.52297	.	0.115802	0.56097	N	0.000021	D	0.86364	0.5915	L	0.28115	0.83	0.35471	D	0.797364	P	0.39903	0.694	B	0.34452	0.183	D	0.86710	0.1935	10	0.22706	T	0.39	.	12.8338	0.57761	0.0799:0.0:0.92:0.0	.	319	A6NHN0	OTOL1_HUMAN	Q	319	ENSP00000330808:R319Q	ENSP00000330808:R319Q	R	+	2	0	OTOL1	162703946	0.997000	0.39634	0.423000	0.26634	0.084000	0.17831	6.412000	0.73303	1.191000	0.43056	0.557000	0.71058	CGA	-	HMMPfam_Collagen		0.567	OTOL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOL1	protein_coding	OTTHUMT00000353184.1	G	NM_001080440		162703946	+1	no_errors	NM_001080440	genbank	human	predicted	54_36p	missense	SNP	0.976	A
XIRP2	129446	genome.wustl.edu	37	2	168103007	168103007	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:168103007C>A	ENST00000409195.1	+	9	5194	c.5105C>A	c.(5104-5106)aCa>aAa	p.T1702K	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T1480K|XIRP2_ENST00000295237.9_Missense_Mutation_p.T1702K|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1527					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATGGTGACACAATTGAGCGT	0.328																																																0			2											127.0	123.0	125.0					2																	168103007		1886	4104	5990	167811253	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.5105C>A	2.37:g.168103007C>A	ENSP00000386840:p.Thr1702Lys		167811253	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	HMMPfam_Xin	p.T1702K	ENST00000409195.1	37	c.5105	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	0.094	-1.163246	0.01673	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02345	4.33;4.33;4.33	5.59	2.42	0.29668	.	0.557593	0.19443	N	0.114126	T	0.01454	0.0047	N	0.03948	-0.315	0.19300	N	0.999972	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.11329	0.002;0.006;0.004	T	0.48198	-0.9056	10	0.30854	T	0.27	-2.6659	7.6869	0.28546	0.384:0.5287:0.0:0.0872	.	1527;1527;1480	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	K	1702;1702;1480	ENSP00000386840:T1702K;ENSP00000295237:T1702K;ENSP00000387255:T1480K	ENSP00000295237:T1702K	T	+	2	0	XIRP2	167811253	0.000000	0.05858	0.476000	0.27291	0.982000	0.71751	0.014000	0.13333	0.680000	0.31366	0.650000	0.86243	ACA	-	NULL		0.328	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	protein_coding	OTTHUMT00000333547.1	C	NM_152381		167811253	+1	no_errors	NM_152381	genbank	human	validated	54_36p	missense	SNP	0.000	A
SMOC2	64094	genome.wustl.edu	37	6	168949839	168949839	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:168949839C>A	ENST00000356284.2	+	7	813	c.593C>A	c.(592-594)aCt>aAt	p.T198N	SMOC2_ENST00000354536.5_Missense_Mutation_p.T209N	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	198					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		ACCCTTTGGACTGAACAGGTT	0.373																																																0			6											160.0	139.0	146.0					6																	168949839		2203	4300	6503	168692688	SO:0001583	missense	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.593C>A	6.37:g.168949839C>A	ENSP00000348630:p.Thr198Asn		168692688	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	superfamily_Thyroglobulin_1,HMMSmart_KAZAL,HMMPfam_Kazal_1,HMMPfam_Thyroglobulin_1,PatternScan_THYROGLOBULIN_1_1,HMMSmart_TY,superfamily_SSF47473,HMMSmart_EFh,PatternScan_EF_HAND_1,HMMPfam_SPARC_Ca_bdg	p.T209N	ENST00000356284.2	37	c.626	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	.	7.658	0.684353	0.14907	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.36340	1.26;1.28	5.02	5.02	0.67125	.	0.133960	0.47852	D	0.000204	T	0.06735	0.0172	N	0.03608	-0.345	0.30979	N	0.722655	B;P	0.38767	0.004;0.646	B;B	0.32980	0.004;0.156	T	0.11372	-1.0590	10	0.16420	T	0.52	-21.9085	15.5789	0.76418	0.0:1.0:0.0:0.0	.	198;209	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	N	198;209;198	ENSP00000348630:T198N;ENSP00000346537:T209N	ENSP00000346537:T209N	T	+	2	0	SMOC2	168692688	1.000000	0.71417	0.927000	0.36925	0.127000	0.20565	3.919000	0.56439	2.327000	0.79052	0.650000	0.86243	ACT	-	superfamily_Thyroglobulin_1		0.373	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	protein_coding	OTTHUMT00000043201.1	C			168692688	+1	no_errors	NM_022138	genbank	human	provisional	54_36p	missense	SNP	0.997	A
DOK3	79930	genome.wustl.edu	37	5	176936638	176936638	+	Silent	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr5:176936638C>T	ENST00000357198.4	-	2	76	c.72G>A	c.(70-72)acG>acA	p.T24T	DOK3_ENST00000501403.2_5'UTR|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_5'UTR	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	24					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GGCCACTTCCCGTCCCTCCGT	0.652																																																0			5											42.0	46.0	45.0					5																	176936638		2203	4300	6503	176869244	SO:0001819	synonymous_variant	79930			AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.72G>A	5.37:g.176936638C>T			176869244	E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Silent	SNP	HMMPfam_PH,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_IRS,HMMSmart_SM00310	p.T24	ENST00000357198.4	37	c.72	CCDS4426.1	5																																																																																			-	NULL		0.652	DOK3-001	KNOWN	basic|CCDS	protein_coding	DOK3	protein_coding	OTTHUMT00000253420.4	C	NM_024872		176869244	-1	no_errors	NM_024872	genbank	human	validated	54_36p	silent	SNP	0.997	T
CALCRL	10203	genome.wustl.edu	37	2	188211047	188211047	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:188211047C>T	ENST00000409998.1	-	16	2031	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	AC007319.1_ENST00000453517.1_RNA|AC007319.1_ENST00000412276.1_RNA|CALCRL_ENST00000392370.3_Missense_Mutation_p.R417H|CALCRL_ENST00000410068.1_Missense_Mutation_p.R417H			Q16602	CALRL_HUMAN	calcitonin receptor-like	417					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|cAMP biosynthetic process (GO:0006171)|cellular response to sucrose stimulus (GO:0071329)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|heart development (GO:0007507)|negative regulation of inflammatory response (GO:0050728)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of muscle contraction (GO:0006937)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	adrenomedullin receptor activity (GO:0001605)|calcitonin gene-related polypeptide receptor activity (GO:0001635)|calcitonin receptor activity (GO:0004948)|G-protein coupled receptor activity (GO:0004930)|protein transporter activity (GO:0008565)			endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			AGACGCACTACGAAGAGCTTC	0.373																																																0			2											127.0	118.0	121.0					2																	188211047		2203	4299	6502	187919292	SO:0001583	missense	10203			U17473	CCDS2293.1	2q21.1-q21.3	2012-08-10			ENSG00000064989	ENSG00000064989		"""GPCR / Class B : Calcitonin receptors"""	16709	protein-coding gene	gene with protein product		114190				7818539, 8626685	Standard	NM_005795		Approved	CGRPR, CRLR	uc010frt.4	Q16602	OTTHUMG00000132636	ENST00000409998.1:c.1250G>A	2.37:g.188211047C>T	ENSP00000386972:p.Arg417His		187919292	A8K6G5|A8KAD3|Q53S02|Q53TS5	Missense_Mutation	SNP	superfamily_SSF111418,HMMSmart_HormR,HMMPfam_HRM,PatternScan_G_PROTEIN_RECEP_F2_1,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2	p.R417H	ENST00000409998.1	37	c.1250	CCDS2293.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.312651	0.95655	.	.	ENSG00000064989	ENST00000392370;ENST00000409998;ENST00000410068	T;T;T	0.73575	-0.76;-0.76;-0.76	5.7	5.7	0.88788	.	0.000000	0.64402	D	0.000006	D	0.86883	0.6040	M	0.81682	2.555	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85517	0.1201	10	0.37606	T	0.19	.	18.8306	0.92137	0.0:1.0:0.0:0.0	.	417	Q16602	CALRL_HUMAN	H	417	ENSP00000376177:R417H;ENSP00000386972:R417H;ENSP00000387190:R417H	ENSP00000376177:R417H	R	-	2	0	CALCRL	187919292	1.000000	0.71417	0.995000	0.50966	0.884000	0.51177	7.478000	0.81082	2.673000	0.90976	0.655000	0.94253	CGT	-	NULL		0.373	CALCRL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CALCRL	protein_coding	OTTHUMT00000334648.1	C	NM_005795		187919292	-1	no_errors	NM_005795	genbank	human	validated	54_36p	missense	SNP	1.000	T
COL5A2	1290	genome.wustl.edu	37	2	189901385	189901385	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:189901385T>C	ENST00000374866.3	-	52	4344	c.4070A>G	c.(4069-4071)aAt>aGt	p.N1357S		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1357	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				axon guidance (GO:0007411)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|negative regulation of endodermal cell differentiation (GO:1903225)|skeletal system development (GO:0001501)|skin development (GO:0043588)	collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			AACAGGTTTATTGTCAGGAGA	0.348																																																0			2											101.0	90.0	94.0					2																	189901385		2203	4300	6503	189609630	SO:0001583	missense	1290			Y14690	CCDS33350.1	2q14-q32	2014-09-17			ENSG00000204262	ENSG00000204262		"""Collagens"""	2210	protein-coding gene	gene with protein product	"""AB collagen"""	120190				1572660	Standard	NM_000393		Approved		uc002uqk.3	P05997	OTTHUMG00000149842	ENST00000374866.3:c.4070A>G	2.37:g.189901385T>C	ENSP00000364000:p.Asn1357Ser		189609630	P78440|Q13908|Q53WR4|Q59GR4|Q6LDJ5|Q7KZ55|Q86XF6|Q96QB0|Q96QB3	Missense_Mutation	SNP	HMMPfam_VWC,HMMSmart_VWC,PatternScan_VWFC_1,HMMPfam_Collagen,HMMSmart_COLFI,HMMPfam_COLFI	p.N1357S	ENST00000374866.3	37	c.4070	CCDS33350.1	2	.	.	.	.	.	.	.	.	.	.	T	14.37	2.516248	0.44763	.	.	ENSG00000204262	ENST00000374866;ENST00000452536	D	0.89050	-2.46	5.98	5.98	0.97165	Fibrillar collagen, C-terminal (3);	0.920794	0.09076	N	0.852125	D	0.82273	0.5001	N	0.17800	0.525	0.09310	N	0.999995	B;B	0.20164	0.012;0.042	B;B	0.24701	0.037;0.055	T	0.67677	-0.5609	10	0.19590	T	0.45	.	11.3004	0.49302	0.1678:0.0:0.0:0.8322	.	997;1357	Q5PR22;P05997	.;CO5A2_HUMAN	S	1357;997	ENSP00000364000:N1357S	ENSP00000364000:N1357S	N	-	2	0	COL5A2	189609630	0.425000	0.25498	0.928000	0.36995	0.747000	0.42532	1.073000	0.30691	2.289000	0.77006	0.482000	0.46254	AAT	-	HMMSmart_COLFI,HMMPfam_COLFI		0.348	COL5A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A2	protein_coding	OTTHUMT00000313523.1	T	NM_000393		189609630	-1	no_errors	NM_000393	genbank	human	reviewed	54_36p	missense	SNP	0.355	C
CTDSP1	58190	genome.wustl.edu	37	2	219269106	219269106	+	Silent	SNP	C	C	T	rs575930072		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:219269106C>T	ENST00000273062.2	+	7	1080	c.744C>T	c.(742-744)gaC>gaT	p.D248D	CTDSP1_ENST00000443891.1_Silent_p.D247D|MIR26B_ENST00000362251.2_RNA|CTDSP1_ENST00000488627.1_3'UTR	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	248					negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|protein dephosphorylation (GO:0006470)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCGTGTGGACGACGTGTACT	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		17878	0.0		0.0	False		,,,				2504	0.001															0			2											144.0	115.0	125.0					2																	219269106		2203	4300	6503	218977350	SO:0001819	synonymous_variant	58190			AF229162	CCDS2416.1, CCDS56166.1	2q35	2010-06-21			ENSG00000144579	ENSG00000144579		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	21614	protein-coding gene	gene with protein product	"""nuclear LIM interactor-interacting factor"", ""small CTD phosphatase 1"""	605323				11950066, 12721286	Standard	NM_021198		Approved	NLIIF, SCP1	uc021vwv.1	Q9GZU7	OTTHUMG00000133109	ENST00000273062.2:c.744C>T	2.37:g.219269106C>T			218977350	C9IYG0|Q7Z5Q3|Q7Z5Q4	Silent	SNP	superfamily_SSF56784,HMMPfam_NIF,HMMSmart_CPDc	p.D248	ENST00000273062.2	37	c.744	CCDS2416.1	2	.	.	.	.	.	.	.	.	.	.	C	5.109	0.205725	0.09704	.	.	ENSG00000144579	ENST00000452977;ENST00000428361	.	.	.	5.32	-2.09	0.07232	.	.	.	.	.	T	0.53932	0.1827	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49943	-0.8885	4	.	.	.	-25.9874	8.8476	0.35179	0.0:0.6058:0.1018:0.2924	.	.	.	.	M	241;249	.	.	T	+	2	0	CTDSP1	218977350	0.000000	0.05858	0.987000	0.45799	0.353000	0.29299	-2.567000	0.00916	-0.299000	0.08909	0.591000	0.81541	ACG	-	superfamily_SSF56784,HMMPfam_NIF		0.617	CTDSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTDSP1	protein_coding	OTTHUMT00000256774.1	C	NM_182642, NM_021198		218977350	+1	no_errors	NM_021198	genbank	human	provisional	54_36p	silent	SNP	0.994	T
MIA3	375056	genome.wustl.edu	37	1	222827730	222827730	+	Splice_Site	SNP	G	G	C			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:222827730G>C	ENST00000344922.5	+	17	4402		c.e17-1		MIA3_ENST00000340535.7_Splice_Site|MIA3_ENST00000344441.6_Splice_Site|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3						chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAATTTTTAGACACAGACTG	0.393																																																0			1											166.0	149.0	154.0					1																	222827730		1851	4099	5950	220894353	SO:0001630	splice_region_variant	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4378-1G>C	1.37:g.222827730G>C			220894353	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Splice_Site	SNP	-	e17-1	ENST00000344922.5	37	c.4378-1	CCDS41470.1	1	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641784	0.67244	.	.	ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000354906;ENST00000340535;ENST00000284471	.	.	.	5.57	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8424	0.63446	0.0733:0.0:0.9267:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MIA3	220894353	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.090000	0.76916	2.615000	0.88500	0.655000	0.94253	.	-	-		0.393	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	protein_coding	OTTHUMT00000091489.4	G	NM_198551	Intron	220894353	+1	no_errors	NM_198551	genbank	human	validated	54_36p	splice_site	SNP	0.998	C
C1orf131	128061	genome.wustl.edu	37	1	231364922	231364922	+	Missense_Mutation	SNP	C	C	G			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr1:231364922C>G	ENST00000366649.2	-	3	509	c.484G>C	c.(484-486)Gat>Cat	p.D162H	C1orf131_ENST00000318906.2_Missense_Mutation_p.D162H|C1orf131_ENST00000366651.3_Missense_Mutation_p.D161H			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	162							poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264																																																0			1											44.0	45.0	45.0					1																	231364922		2198	4297	6495	229431545	SO:0001583	missense	128061			BC062353	CCDS1591.2, CCDS73049.1	1q42.2	2012-06-27			ENSG00000143633	ENSG00000143633			25332	protein-coding gene	gene with protein product						12975309	Standard	XM_005273051		Approved	DKFZp547B1713	uc001hul.3	Q8NDD1	OTTHUMG00000038023	ENST00000366649.2:c.484G>C	1.37:g.231364922C>G	ENSP00000355609:p.Asp162His		229431545	Q5TBI0|Q5TBI1|Q6P6B4|Q7Z6H5|Q8N432|Q96NM6	Missense_Mutation	SNP	NULL	p.D162H	ENST00000366649.2	37	c.484	CCDS1591.2	1	.	.	.	.	.	.	.	.	.	.	C	9.817	1.184764	0.21870	.	.	ENSG00000143633	ENST00000366649;ENST00000318906;ENST00000366651	T;T;T	0.48836	0.8;0.8;2.56	4.5	-0.836	0.10770	.	0.724649	0.14225	N	0.333135	T	0.55721	0.1938	M	0.72894	2.215	0.20307	N	0.999915	D;D;D;D	0.67145	0.996;0.958;0.989;0.989	P;P;P;P	0.60473	0.875;0.723;0.742;0.742	T	0.46076	-0.9217	10	0.62326	D	0.03	-9.5578	4.5347	0.12022	0.144:0.5066:0.0:0.3494	.	161;162;161;162	B4E0F7;Q8NDD1;Q8NDD1-3;Q8NDD1-2	.;CA131_HUMAN;.;.	H	162;162;161	ENSP00000355609:D162H;ENSP00000321341:D162H;ENSP00000355611:D161H	ENSP00000321341:D162H	D	-	1	0	C1orf131	229431545	0.000000	0.05858	0.346000	0.25655	0.045000	0.14185	-0.321000	0.08018	-0.121000	0.11787	-0.188000	0.12872	GAT	-	NULL		0.264	C1orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf131	protein_coding	OTTHUMT00000092864.1	C	NM_152379		229431545	-1	no_errors	NM_152379	genbank	human	validated	54_36p	missense	SNP	0.208	G
C2orf71	388939	genome.wustl.edu	37	2	29287926	29287927	+	In_Frame_Ins	INS	-	-	GCT	rs139768554|rs72122505|rs201781577|rs35753661	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	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
Unknown	0	genome.wustl.edu	37	9	67274083	67274083	+	IGR	DEL	A	A	-	rs370845115		TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr9:67274083delA								AL845321.1 (48631 upstream) : RP11-236F9.2 (15486 downstream)																							GGTAGCTCCCAAATGTTTTAT	0.582																																																0			9																																								66963903	SO:0001628	intergenic_variant	375719																															9.37:g.67274083delA			66963903		Frame_Shift_Del	DEL	HMMPfam_MIP,superfamily_Aquaporin-like	p.F68fs		37	c.204		9																																																																																			(deletion:cds_exon[66963827,66963950])	HMMPfam_MIP,superfamily_Aquaporin-like	0	0.582					AQP7P1			A			66963903	-1	no_errors	ENST00000334576	ensembl	human	known	54_36p	frame_shift_del	DEL	0.003	-
BRS3	680	genome.wustl.edu	37	X	135572553	135572565	+	Frame_Shift_Del	DEL	TATCTCTGTCTAC	TATCTCTGTCTAC	-			TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	TATCTCTGTCTAC	TATCTCTGTCTAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chrX:135572553_135572565delTATCTCTGTCTAC	ENST00000370648.3	+	2	924_936	c.696_708delTATCTCTGTCTAC	c.(694-708)attatctctgtctacfs	p.IISVY232fs		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	232					adult feeding behavior (GO:0008343)|glucose metabolic process (GO:0006006)|regulation of blood pressure (GO:0008217)	integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					CACTCTCTATTATCTCTGTCTACTATTCCTTGA	0.394																																																0			X																																								135400231	SO:0001589	frameshift_variant	680				CCDS14656.1	Xq26.3	2014-02-21			ENSG00000102239	ENSG00000102239		"""GPCR / Class A : Bombesin receptors"""	1113	protein-coding gene	gene with protein product		300107				8383682	Standard	NM_001727		Approved	BB3	uc004ezv.1	P32247	OTTHUMG00000022726	ENST00000370648.3:c.696_708delTATCTCTGTCTAC	X.37:g.135572553_135572565delTATCTCTGTCTAC	ENSP00000359682:p.Ile232fs		135400219		Frame_Shift_Del	DEL	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.S234fs	ENST00000370648.3	37	c.696_708	CCDS14656.1	X																																																																																			(deletion:cds_exon[135399958,135400309])	superfamily_SSF81321,HMMPfam_7tm_1		0.394	BRS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRS3	protein_coding	OTTHUMT00000059005.1	TATCTCTGTCTAC	NM_001727		135400231	+1	no_errors	NM_001727	genbank	human	validated	54_36p	frame_shift_del	DEL	0.926:0.999:1.000:0.983:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000	-
Unknown	0	genome.wustl.edu	37	6	158133074	158133075	+	IGR	INS	-	-	T	rs56143145|rs397932589	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr6:158133074_158133075insT								ZDHHC14 (33896 upstream) : SNX9 (111220 downstream)																							catttgatatatgtcctctagt	0.406													tT|T|TT|deletion	2833	0.565695	0.8873	0.6297	5008	,	,		20507	0.2321		0.5348	False		,,,				2504	0.4611															0			6																																								158053063	SO:0001628	intergenic_variant	0																															6.37:g.158133075_158133075dupT			158053062		RNA	INS	-	NULL		37	NULL		6																																																																																			-	-	0	0.406					ENSG00000208440			-			158053063	-1	pseudogene	ENST00000385705	ensembl	human	novel	54_36p	rna	INS	1.000:0.998	T
SLC4A10	57282	genome.wustl.edu	37	2	162290745	162290746	+	IGR	INS	-	-	CA	rs149413117|rs397722116|rs3038155|rs199858669	byFrequency	TCGA-04-1649-01A-01W-0639-09	TCGA-04-1649-11A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	ab9bede5-6431-4925-b8be-6b4df83da63c	4930f91f-f807-4732-b60b-79bac1cca04c	g.chr2:162290745_162290746insCA								AC009487.5 (5460 upstream) : snoU13 (124307 downstream)																							ATGcacacacgcacacacacac	0.411														2735	0.546126	0.5287	0.562	5008	,	,		18804	0.5427		0.5616	False		,,,				2504	0.546															0			2																																								161998992	SO:0001628	intergenic_variant	0																															2.37:g.162290754_162290755dupCA			161998991		Frame_Shift_Ins	INS	NULL	p.T62fs		37	c.173_174		2																																																																																			-	NULL	0	0.411					LOC100130761			-			161998992	+1	no_errors	XM_001720141	genbank	human	model	54_36p	frame_shift_ins	INS	0.000:0.001	CA
