#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA2	20	genome.wustl.edu	37	9	139903454	139903454	+	Silent	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:139903454C>A	ENST00000371605.3	-	45	7023	c.6876G>T	c.(6874-6876)gtG>gtT	p.V2292V	ABCA2_ENST00000341511.6_Silent_p.V2293V|ABCA2_ENST00000265662.5_Silent_p.V2293V			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2292					ATP catabolic process (GO:0006200)|cholesterol homeostasis (GO:0042632)|lipid metabolic process (GO:0006629)|regulation of intracellular cholesterol transport (GO:0032383)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)|response to steroid hormone (GO:0048545)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|nucleotide binding (GO:0000166)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCACGTCCTTCACACTCTGGC	0.677																																																	0													37.0	42.0	40.0					9																	139903454		2064	4181	6245	SO:0001819	synonymous_variant	20			U18235	CCDS43909.1	9q34	2012-03-14			ENSG00000107331	ENSG00000107331		"""ATP binding cassette transporters / subfamily A"""	32	protein-coding gene	gene with protein product		600047		ABC2		8088782	Standard	NM_212533		Approved		uc022bpy.1	Q9BZC7	OTTHUMG00000020958	ENST00000371605.3:c.6876G>T	9.37:g.139903454C>A			A6NED5|Q5SPY5|Q5W9G5|Q76MW7|Q9HC28	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V2293	ENST00000371605.3	37	c.6879		9	.	.	.	.	.	.	.	.	.	.	C	10.68	1.417930	0.25552	.	.	ENSG00000107331	ENST00000398210	.	.	.	3.89	3.89	0.44902	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	7.1185	0.25431	0.161:0.5879:0.2511:0.0	.	.	.	.	X	194	.	ENSP00000381268:E194X	E	-	1	0	ABCA2	139023275	0.999000	0.42202	0.998000	0.56505	0.920000	0.55202	0.489000	0.22387	2.009000	0.58944	0.491000	0.48974	GAA	ABCA2	-	NULL		0.677	ABCA2-202	KNOWN	basic	protein_coding	ABCA2	HGNC	protein_coding		C	NM_001606		139903454	-1	no_errors	ENST00000265662	ensembl	human	known	70_37	silent	SNP	1.000	A
ABCA3	21	genome.wustl.edu	37	16	2333226	2333226	+	Silent	SNP	G	G	A	rs566758140		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:2333226G>A	ENST00000301732.5	-	26	4696	c.3996C>T	c.(3994-3996)ctC>ctT	p.L1332L	ABCA3_ENST00000382381.3_Silent_p.L1274L	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1332					response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GGATGCCCCTGAGTCTCTGAA	0.682																																																	0													43.0	49.0	47.0					16																	2333226		2198	4300	6498	SO:0001819	synonymous_variant	21			U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.3996C>T	16.37:g.2333226G>A			B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L1332	ENST00000301732.5	37	c.3996	CCDS10466.1	16																																																																																			ABCA3	-	NULL		0.682	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	HGNC	protein_coding	OTTHUMT00000250784.2	G	NM_001089		2333226	-1	no_errors	ENST00000301732	ensembl	human	known	70_37	silent	SNP	0.557	A
ABCA7	10347	genome.wustl.edu	37	19	1049293	1049293	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:1049293G>A	ENST00000263094.6	+	18	2640	c.2409G>A	c.(2407-2409)ctG>ctA	p.L803L	ABCA7_ENST00000435683.2_Silent_p.L665L|ABCA7_ENST00000433129.1_Silent_p.L803L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	803					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGCCCGGCCTGAGTCCTGGCG	0.662																																																	0													54.0	62.0	59.0					19																	1049293		2201	4298	6499	SO:0001819	synonymous_variant	10347			AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.2409G>A	19.37:g.1049293G>A			Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	pfam_ABC_transporter-like,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L803	ENST00000263094.6	37	c.2409	CCDS12055.1	19																																																																																			ABCA7	-	NULL		0.662	ABCA7-001	KNOWN	basic|CCDS	protein_coding	ABCA7	HGNC	protein_coding	OTTHUMT00000394993.1	G	NM_019112		1049293	+1	no_errors	ENST00000263094	ensembl	human	known	70_37	silent	SNP	0.652	A
ACIN1	22985	genome.wustl.edu	37	14	23564376	23564376	+	Silent	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:23564376C>G	ENST00000262710.1	-	1	447	c.120G>C	c.(118-120)cgG>cgC	p.R40R	ACIN1_ENST00000457657.1_Silent_p.R40R|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000605057.1_5'Flank|ACIN1_ENST00000555053.1_Silent_p.R40R|C14orf119_ENST00000554203.1_5'Flank	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	40					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCGGTAATTTCCGCCAACGCC	0.617																																																	0													66.0	64.0	65.0					14																	23564376		2203	4300	6503	SO:0001819	synonymous_variant	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.120G>C	14.37:g.23564376C>G			B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Silent	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R40	ENST00000262710.1	37	c.120	CCDS9587.1	14																																																																																			ACIN1	-	NULL		0.617	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	C	NM_014977		23564376	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	silent	SNP	1.000	G
ACSBG1	23205	genome.wustl.edu	37	15	78485950	78485950	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:78485950G>C	ENST00000258873.4	-	5	766	c.561C>G	c.(559-561)atC>atG	p.I187M	ACSBG1_ENST00000558828.1_5'Flank|ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	187					long-chain fatty acid metabolic process (GO:0001676)|myelination (GO:0042552)|ovarian follicle atresia (GO:0001552)|response to glucocorticoid (GO:0051384)|very long-chain fatty acid metabolic process (GO:0000038)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TGGTGGTGTAGATGCCAGTGA	0.592																																																	0													92.0	85.0	87.0					15																	78485950		2196	4293	6489	SO:0001583	missense	23205			AB014531	CCDS10298.1	15q23-q24	2006-02-09			ENSG00000103740	ENSG00000103740		"""Acyl-CoA synthetase family"""	29567	protein-coding gene	gene with protein product	"""bubblegum"", ""very long-chain acyl-CoA synthetase"", ""lipidosin"""	614362				9734811, 10954726	Standard	NM_015162		Approved	BGM, FLJ30320, MGC14352, BG1, KIAA0631, hBG1, hsBG	uc002bdh.3	Q96GR2	OTTHUMG00000143734	ENST00000258873.4:c.561C>G	15.37:g.78485950G>C	ENSP00000258873:p.Ile187Met		B2RB61|O75126|Q76N27|Q9HC26	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.I187M	ENST00000258873.4	37	c.561	CCDS10298.1	15	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782640	0.49891	.	.	ENSG00000103740	ENST00000258873	T	0.50001	0.76	4.63	2.7	0.31948	AMP-dependent synthetase/ligase (1);	0.064484	0.64402	D	0.000017	T	0.64283	0.2584	M	0.82193	2.58	0.45183	D	0.998191	D;D	0.89917	1.0;0.997	D;D	0.87578	0.998;0.994	T	0.61992	-0.6948	10	0.72032	D	0.01	-23.0117	4.0699	0.09877	0.2692:0.0:0.568:0.1628	.	183;187	B7Z2Y6;Q96GR2	.;ACBG1_HUMAN	M	187	ENSP00000258873:I187M	ENSP00000258873:I187M	I	-	3	3	ACSBG1	76273005	1.000000	0.71417	1.000000	0.80357	0.818000	0.46254	1.389000	0.34453	0.377000	0.24735	-0.150000	0.13652	ATC	ACSBG1	-	pfam_AMP-dep_Synth/Lig		0.592	ACSBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSBG1	HGNC	protein_coding	OTTHUMT00000289802.2	G	NM_015162		78485950	-1	no_errors	ENST00000258873	ensembl	human	known	70_37	missense	SNP	1.000	C
ADAM12	8038	genome.wustl.edu	37	10	127755362	127755362	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:127755362C>T	ENST00000368679.4	-	13	1655	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H	ADAM12_ENST00000467145.1_5'UTR|ADAM12_ENST00000368676.4_Missense_Mutation_p.R449H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	449	Disintegrin. {ECO:0000255|PROSITE- ProRule:PRU00068}.				cell adhesion (GO:0007155)|epidermal growth factor receptor signaling pathway (GO:0007173)|myoblast fusion (GO:0007520)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		ATTGCAGCAGCGATTCATACA	0.512																																																	0													100.0	85.0	90.0					10																	127755362		2203	4300	6503	SO:0001583	missense	8038			AF023476	CCDS7653.1, CCDS7654.1	10q26	2008-07-29	2008-07-29		ENSG00000148848	ENSG00000148848		"""ADAM metallopeptidase domain containing"""	190	protein-coding gene	gene with protein product	"""meltrin alpha"""	602714	"""a disintegrin and metalloproteinase domain 12 (meltrin alpha)"""			9417060, 18342566	Standard	NM_003474		Approved	MCMPMltna, MLTN	uc001ljk.2	O43184	OTTHUMG00000019243	ENST00000368679.4:c.1346G>A	10.37:g.127755362C>T	ENSP00000357668:p.Arg449His		O60470|Q5JRP0|Q5JRP1|Q6P9E3|Q6UWB0	Missense_Mutation	SNP	pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B	p.R449H	ENST00000368679.4	37	c.1346	CCDS7653.1	10	.	.	.	.	.	.	.	.	.	.	C	12.89	2.073286	0.36566	.	.	ENSG00000148848	ENST00000368679;ENST00000368676	T;T	0.11604	2.76;2.76	4.56	0.077	0.14406	Blood coagulation inhibitor, Disintegrin (5);	0.384999	0.25490	N	0.030314	T	0.05593	0.0147	N	0.21545	0.675	0.33957	D	0.645149	B;B;B;B;B	0.14012	0.009;0.007;0.007;0.007;0.003	B;B;B;B;B	0.12156	0.007;0.004;0.004;0.004;0.004	T	0.16424	-1.0403	10	0.44086	T	0.13	.	2.7476	0.05272	0.1386:0.382:0.3188:0.1606	.	446;446;449;446;449	A8K6G4;O43184-3;O43184-2;O43184-4;O43184	.;.;.;.;ADA12_HUMAN	H	449	ENSP00000357668:R449H;ENSP00000357665:R449H	ENSP00000357665:R449H	R	-	2	0	ADAM12	127745352	0.066000	0.20996	0.740000	0.30986	0.770000	0.43624	-0.046000	0.11983	0.199000	0.20427	-0.176000	0.13171	CGC	ADAM12	-	pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin		0.512	ADAM12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM12	HGNC	protein_coding	OTTHUMT00000050961.1	C			127755362	-1	no_errors	ENST00000368679	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18776963	18776963	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:18776963G>A	ENST00000380548.4	+	19	3075	c.2736G>A	c.(2734-2736)gaG>gaA	p.E912E		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	912	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCACCTGGGAGAAGGACGGCC	0.672																																																	0													37.0	46.0	43.0					9																	18776963		2094	4216	6310	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2736G>A	9.37:g.18776963G>A			A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E912	ENST00000380548.4	37	c.2736	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.672	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	G			18776963	+1	no_errors	ENST00000380548	ensembl	human	novel	70_37	silent	SNP	1.000	A
ADD1	118	genome.wustl.edu	37	4	2906605	2906605	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:2906605G>A	ENST00000398129.1	+	9	1296	c.1276G>A	c.(1276-1278)Gat>Aat	p.D426N	ADD1_ENST00000264758.7_Missense_Mutation_p.D426N|ADD1_ENST00000355842.3_Missense_Mutation_p.D426N|ADD1_ENST00000398123.2_Missense_Mutation_p.D426N|ADD1_ENST00000503455.2_Missense_Mutation_p.D426N|ADD1_ENST00000513328.2_Missense_Mutation_p.D426N|ADD1_ENST00000398125.1_Missense_Mutation_p.D426N|ADD1_ENST00000446856.1_Missense_Mutation_p.D426N			P35611	ADDA_HUMAN	adducin 1 (alpha)	426					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TAGTGACGGTGATTCGGGCAC	0.527																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													103.0	95.0	98.0					4																	2906605		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.1276G>A	4.37:g.2906605G>A	ENSP00000381197:p.Asp426Asn		A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D426N	ENST00000398129.1	37	c.1276	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	23.4	4.407268	0.83230	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87;1.87;1.87	5.36	5.36	0.76844	.	0.091963	0.64402	D	0.000001	T	0.27454	0.0674	N	0.25890	0.77	0.80722	D	1	B;B;P;B;B;B	0.41041	0.255;0.288;0.736;0.338;0.449;0.082	B;B;B;P;B;B	0.44518	0.063;0.358;0.159;0.452;0.311;0.059	T	0.02632	-1.1131	10	0.52906	T	0.07	-29.0447	19.0947	0.93246	0.0:0.0:1.0:0.0	.	426;426;426;426;426;426	B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;ADDA_HUMAN;.;.;.	N	426	ENSP00000264758:D426N;ENSP00000399828:D426N;ENSP00000381193:D426N;ENSP00000421907:D426N;ENSP00000423024:D426N;ENSP00000348100:D426N;ENSP00000381191:D426N;ENSP00000381197:D426N	ENSP00000264758:D426N	D	+	1	0	ADD1	2876403	1.000000	0.71417	0.976000	0.42696	0.994000	0.84299	9.787000	0.99055	2.508000	0.84585	0.655000	0.94253	GAT	ADD1	-	NULL		0.527	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	G	NM_014189		2906605	+1	no_errors	ENST00000264758	ensembl	human	known	70_37	missense	SNP	1.000	A
AFAP1L1	134265	genome.wustl.edu	37	5	148697431	148697431	+	Silent	SNP	C	C	A	rs143485535	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:148697431C>A	ENST00000296721.4	+	12	1505	c.1407C>A	c.(1405-1407)gcC>gcA	p.A469A	AFAP1L1_ENST00000515000.1_Silent_p.A469A	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	469	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGGTGGCCCCGGGCTTTG	0.622																																																	0													47.0	36.0	40.0					5																	148697431		2203	4299	6502	SO:0001819	synonymous_variant	134265			AK094067	CCDS34274.1, CCDS54932.1	5q33.1	2013-01-10			ENSG00000157510	ENSG00000157510		"""Pleckstrin homology (PH) domain containing"""	26714	protein-coding gene	gene with protein product		614410					Standard	NM_152406		Approved	FLJ36748	uc003lqh.3	Q8TED9	OTTHUMG00000163441	ENST00000296721.4:c.1407C>A	5.37:g.148697431C>A			Q08AN4|Q08AN5|Q8IW82|Q8N8Z5|Q8N9Q4	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A469	ENST00000296721.4	37	c.1407	CCDS34274.1	5																																																																																			AFAP1L1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.622	AFAP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AFAP1L1	HGNC	protein_coding	OTTHUMT00000373443.1	C	NM_152406		148697431	+1	no_errors	ENST00000296721	ensembl	human	known	70_37	silent	SNP	0.967	A
AKAP13	11214	genome.wustl.edu	37	15	86201775	86201775	+	Nonsense_Mutation	SNP	C	C	T	rs373971207		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:86201775C>T	ENST00000394518.2	+	12	4848	c.4753C>T	c.(4753-4755)Cga>Tga	p.R1585*	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000560579.1_3'UTR|RP11-815J21.4_ENST00000558980.1_RNA	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1585					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAGTTCAATGCGAGTTCTTGG	0.433																																					Melanoma(94;603 1453 3280 32295 32951)												0								C	,stop/ARG	1,4403	2.1+/-5.4	0,1,2201	217.0	172.0	187.0		,4753	5.5	1.0	15		187	0,8598		0,0,4299	no	intron,stop-gained	AKAP13	NM_006738.4,NM_007200.3	,	0,1,6500	TT,TC,CC		0.0,0.0227,0.0077	,	,1585/2814	86201775	1,13001	2202	4299	6501	SO:0001587	stop_gained	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.4753C>T	15.37:g.86201775C>T	ENSP00000378026:p.Arg1585*		Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Nonsense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.R1585*	ENST00000394518.2	37	c.4753	CCDS32319.1	15	.	.	.	.	.	.	.	.	.	.	C	31	5.084288	0.94100	2.27E-4	0.0	ENSG00000170776	ENST00000394518	.	.	.	5.5	5.5	0.81552	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07482	T	0.82	.	18.7456	0.91791	0.0:1.0:0.0:0.0	.	.	.	.	X	1585	.	ENSP00000378026:R1585X	R	+	1	2	AKAP13	84002779	1.000000	0.71417	1.000000	0.80357	0.886000	0.51366	3.707000	0.54838	2.748000	0.94277	0.655000	0.94253	CGA	AKAP13	-	NULL		0.433	AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	AKAP13	HGNC	protein_coding	OTTHUMT00000417318.1	C	NM_007200		86201775	+1	no_errors	ENST00000394518	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ALDH1A1	216	genome.wustl.edu	37	9	75524535	75524535	+	Silent	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:75524535C>A	ENST00000297785.3	-	11	1395	c.1341G>T	c.(1339-1341)ctG>ctT	p.L447L		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	447					cellular aldehyde metabolic process (GO:0006081)|ethanol oxidation (GO:0006069)|positive regulation of Ras GTPase activity (GO:0032320)|retinol metabolic process (GO:0042572)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|androgen binding (GO:0005497)|Ras GTPase activator activity (GO:0005099)|retinal dehydrogenase activity (GO:0001758)			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					Tretinoin(DB00755)|Vitamin A(DB00162)	TTCCTGCCTGCAGAGCAGAGG	0.388																																																	0													158.0	140.0	146.0					9																	75524535		2203	4300	6503	SO:0001819	synonymous_variant	216			K03000	CCDS6644.1	9q21.13	2010-08-05			ENSG00000165092	ENSG00000165092	1.2.1.36, 1.2.1.3	"""Aldehyde dehydrogenases"""	402	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 1"""	100640		PUMB1, ALDH1		1709013	Standard	NM_000689		Approved	RALDH1	uc004ajd.3	P00352	OTTHUMG00000020019	ENST00000297785.3:c.1341G>T	9.37:g.75524535C>A			O00768|Q5SYR1	Silent	SNP	pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH	p.L447	ENST00000297785.3	37	c.1341	CCDS6644.1	9																																																																																			ALDH1A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.388	ALDH1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A1	HGNC	protein_coding	OTTHUMT00000052679.1	C			75524535	-1	no_errors	ENST00000297785	ensembl	human	known	70_37	silent	SNP	1.000	A
AKNA	80709	genome.wustl.edu	37	9	117143510	117143510	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:117143510C>G	ENST00000307564.4	-	2	265	c.104G>C	c.(103-105)aGa>aCa	p.R35T	AKNA_ENST00000374088.3_Missense_Mutation_p.R35T|AKNA_ENST00000312033.3_Missense_Mutation_p.R35T	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	35					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						TGAACTACTTCTATCCACATC	0.657																																																	0													104.0	79.0	88.0					9																	117143510		2203	4300	6503	SO:0001583	missense	80709			AK024431	CCDS6805.1	9q32	2008-02-05			ENSG00000106948	ENSG00000106948			24108	protein-coding gene	gene with protein product		605729				11268217, 11853319	Standard	NM_030767		Approved	KIAA1968	uc004bis.3	Q7Z591	OTTHUMG00000020538	ENST00000307564.4:c.104G>C	9.37:g.117143510C>G	ENSP00000303769:p.Arg35Thr		Q05BK5|Q5T535|Q5T536|Q5T537|Q64FX6|Q64FX7|Q64FX8|Q64FY2|Q6ZMK0|Q6ZNL2|Q6ZTX0|Q8TET1|Q8TF33|Q96RR9|Q9H7P7	Missense_Mutation	SNP	pfam_TF_AT-hook	p.R35T	ENST00000307564.4	37	c.104	CCDS6805.1	9	.	.	.	.	.	.	.	.	.	.	C	1.267	-0.614186	0.03690	.	.	ENSG00000106948	ENST00000307564;ENST00000394582;ENST00000374088;ENST00000312033;ENST00000394574	T;T;T	0.31247	2.73;2.73;1.5	3.83	-2.96	0.05547	.	0.850421	0.10061	N	0.720986	T	0.09468	0.0233	N	0.08118	0	0.09310	N	1	P;B	0.38020	0.615;0.118	B;B	0.30943	0.122;0.025	T	0.17410	-1.0370	10	0.27785	T	0.31	-0.5343	1.0706	0.01620	0.1521:0.3171:0.1489:0.382	.	35;35	Q7Z591-6;Q7Z591	.;AKNA_HUMAN	T	35;34;35;35;35	ENSP00000303769:R35T;ENSP00000363201:R35T;ENSP00000309222:R35T	ENSP00000303769:R35T	R	-	2	0	AKNA	116183331	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.112000	0.15479	-0.609000	0.05724	-0.219000	0.12488	AGA	AKNA	-	NULL		0.657	AKNA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNA	HGNC	protein_coding	OTTHUMT00000053767.2	C	NM_030767		117143510	-1	no_errors	ENST00000307564	ensembl	human	known	70_37	missense	SNP	0.000	G
AMBRA1	55626	genome.wustl.edu	37	11	46564315	46564315	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:46564315C>G	ENST00000458649.2	-	7	1670	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	AMBRA1_ENST00000314845.3_Missense_Mutation_p.E328Q|AMBRA1_ENST00000534300.1_Missense_Mutation_p.E418Q|AMBRA1_ENST00000533727.1_Missense_Mutation_p.E328Q|AMBRA1_ENST00000528950.1_Missense_Mutation_p.E418Q|AMBRA1_ENST00000298834.3_Missense_Mutation_p.E418Q|AMBRA1_ENST00000426438.1_Missense_Mutation_p.E418Q			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	418					autophagy (GO:0006914)|cell differentiation (GO:0030154)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron apoptotic process (GO:0043524)|neural tube development (GO:0021915)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|phagocytic vesicle (GO:0045335)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CGGGTCCACTCAGATCCTGTC	0.587																																																	0													68.0	72.0	71.0					11																	46564315		2201	4299	6500	SO:0001583	missense	55626			AB051523	CCDS31475.1, CCDS58132.1, CCDS73281.1	11p11.2	2013-01-09			ENSG00000110497	ENSG00000110497		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	25990	protein-coding gene	gene with protein product	"""WD repeat domain 94"", ""DDB1 and CUL4 associated factor 3"""	611359				17622796, 17603510, 17589504	Standard	NM_001267782		Approved	FLJ20294, KIAA1736, WDR94, DCAF3	uc001ncv.3	Q9C0C7	OTTHUMG00000166500	ENST00000458649.2:c.1252G>C	11.37:g.46564315C>G	ENSP00000415327:p.Glu418Gln		A6XN33|D3DQP8|G3V193|Q86XD6|Q9H8Z0|Q9NXE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E418Q	ENST00000458649.2	37	c.1252		11	.	.	.	.	.	.	.	.	.	.	C	16.47	3.133154	0.56828	.	.	ENSG00000110497	ENST00000314845;ENST00000533727;ENST00000534300;ENST00000426438;ENST00000298834;ENST00000314823;ENST00000458649;ENST00000528950	T;T;T;T;T;T;T	0.72615	-0.53;-0.67;-0.26;-0.38;-0.26;-0.39;-0.38	5.85	5.85	0.93711	.	0.090555	0.85682	D	0.000000	T	0.59059	0.2166	N	0.14661	0.345	0.52099	D	0.99994	B;P;P;P;P;P	0.50272	0.361;0.779;0.779;0.621;0.933;0.621	B;B;B;B;B;B	0.41813	0.1;0.295;0.295;0.282;0.367;0.282	T	0.61724	-0.7004	10	0.38643	T	0.18	.	20.1542	0.98100	0.0:1.0:0.0:0.0	.	418;418;418;328;328;328	Q9C0C7;Q9C0C7-3;Q9C0C7-2;G3V193;Q9C0C7-5;Q9C0C7-4	AMRA1_HUMAN;.;.;.;.;.	Q	328;328;418;418;418;328;418;418	ENSP00000318313:E328Q;ENSP00000433372:E328Q;ENSP00000431926:E418Q;ENSP00000410899:E418Q;ENSP00000298834:E418Q;ENSP00000415327:E418Q;ENSP00000433945:E418Q	ENSP00000298834:E418Q	E	-	1	0	AMBRA1	46520891	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	5.402000	0.66332	2.767000	0.95098	0.563000	0.77884	GAG	AMBRA1	-	NULL		0.587	AMBRA1-005	KNOWN	basic	protein_coding	AMBRA1	HGNC	protein_coding	OTTHUMT00000390103.1	C	NM_017749		46564315	-1	no_errors	ENST00000458649	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKHD1	54882	genome.wustl.edu	37	5	139876458	139876458	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:139876458G>T	ENST00000360839.2	+	15	2753	c.2599G>T	c.(2599-2601)Gtg>Ttg	p.V867L	ANKHD1_ENST00000462121.1_3'UTR|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.V867L|ANKHD1_ENST00000297183.6_Missense_Mutation_p.V867L	NM_017747.2	NP_060217.1	Q8IWZ3	ANKH1_HUMAN	ankyrin repeat and KH domain containing 1	867						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAAGACACAGTGTCTCTACA	0.438																																																	0													102.0	102.0	102.0					5																	139876458		2203	4300	6503	SO:0001583	missense	54882			AF521882	CCDS4225.1, CCDS43371.1, CCDS43372.1, CCDS75319.1	5q31.3	2013-01-10			ENSG00000131503	ENSG00000131503		"""Ankyrin repeat domain containing"""	24714	protein-coding gene	gene with protein product		610500				10470851, 11230166, 16098192	Standard	NM_017747		Approved	MASK, FLJ20288, FLJ11979, FLJ10042, FLJ14127, KIAA1085		Q8IWZ3	OTTHUMG00000161610	ENST00000360839.2:c.2599G>T	5.37:g.139876458G>T	ENSP00000354085:p.Val867Leu		A6NH85|Q149P2|Q8IWZ2|Q8WY90|Q96G77|Q96GK0|Q9H2U0|Q9HA95|Q9NWG4|Q9UPR7	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.V867L	ENST00000360839.2	37	c.2599	CCDS4225.1	5	.	.	.	.	.	.	.	.	.	.	G	7.206	0.594500	0.13875	.	.	ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000131503;ENSG00000254996	ENST00000360839;ENST00000422011;ENST00000297183;ENST00000253810;ENST00000310356;ENST00000421134;ENST00000532219	T;T;T;T	0.62232	0.08;0.04;0.07;0.04	5.46	4.47	0.54385	Ankyrin repeat-containing domain (1);	0.876682	0.09774	N	0.757623	T	0.25901	0.0631	N	0.01352	-0.895	0.20196	N	0.999928	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.46247	-0.9205	10	0.06236	T	0.91	.	3.3361	0.07102	0.0893:0.1948:0.5212:0.1946	.	867;867;867	Q8IWZ3-4;Q8IWZ2;Q8IWZ3	.;.;ANKH1_HUMAN	L	867;900;867;867;401;886;867	ENSP00000354085:V867L;ENSP00000297183:V867L;ENSP00000394489:V886L;ENSP00000432016:V867L	ENSP00000432016:V867L	V	+	1	0	ANKHD1-EIF4EBP3;ANKHD1	139856642	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	0.745000	0.26259	2.713000	0.92767	0.585000	0.79938	GTG	ANKHD1	-	pfscan_Ankyrin_rpt-contain_dom		0.438	ANKHD1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ANKHD1	HGNC	protein_coding	OTTHUMT00000251672.1	G	NM_017747		139876458	+1	no_errors	ENST00000297183	ensembl	human	known	70_37	missense	SNP	0.906	T
ANKLE2	23141	genome.wustl.edu	37	12	133331702	133331702	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:133331702C>T	ENST00000357997.5	-	2	288	c.199G>A	c.(199-201)Gct>Act	p.A67T	ANKLE2_ENST00000337516.5_Missense_Mutation_p.A67T|ANKLE2_ENST00000539605.1_Missense_Mutation_p.A5T	NM_015114.1	NP_055929.1	Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	67					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope reassembly (GO:0007084)|negative regulation of phosphorylation (GO:0042326)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	protein phosphatase 2A binding (GO:0051721)|protein phosphatase type 2A regulator activity (GO:0008601)			NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GCCAACAGAGCATCCATTGTC	0.413																																																	0													76.0	71.0	73.0					12																	133331702		1866	4112	5978	SO:0001583	missense	23141			AB014592	CCDS41869.1	12q24.33	2013-01-11	2008-03-25	2008-03-25	ENSG00000176915	ENSG00000176915		"""Ankyrin repeat domain containing"""	29101	protein-coding gene	gene with protein product	"""LEM domain containing 7"""		"""KIAA0692"""	KIAA0692		9734811	Standard	XM_005266159		Approved	LEMD7, Lem4	uc001ukx.2	Q86XL3	OTTHUMG00000168046	ENST00000357997.5:c.199G>A	12.37:g.133331702C>T	ENSP00000350686:p.Ala67Thr		A8KAG3|B3KN97|B3KSF8|O75176|Q6P6A5|Q8TAZ9|Q96DH4	Missense_Mutation	SNP	pfam_LEM,superfamily_LEM-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ribosomal_L9/RNase_H1_N,pfscan_LEM	p.A67T	ENST00000357997.5	37	c.199	CCDS41869.1	12	.	.	.	.	.	.	.	.	.	.	C	9.503	1.103750	0.20632	.	.	ENSG00000176915	ENST00000539605;ENST00000357997;ENST00000337516	T;T;T	0.34667	1.78;1.76;1.35	5.4	0.0324	0.14175	LEM-like domain (1);	0.524030	0.22043	N	0.065424	T	0.16128	0.0388	N	0.19112	0.55	0.25674	N	0.985868	B;B	0.32693	0.056;0.38	B;B	0.25759	0.04;0.063	T	0.11966	-1.0566	10	0.30078	T	0.28	-7.6922	4.9913	0.14216	0.1288:0.5038:0.0:0.3674	.	67;67	Q86XL3-2;Q86XL3	.;ANKL2_HUMAN	T	5;67;67	ENSP00000446268:A5T;ENSP00000350686:A67T;ENSP00000337651:A67T	ENSP00000337651:A67T	A	-	1	0	ANKLE2	131841775	0.002000	0.14202	0.051000	0.19133	0.459000	0.32528	-0.563000	0.05943	-0.024000	0.13941	0.644000	0.83932	GCT	ANKLE2	-	superfamily_LEM-like_dom		0.413	ANKLE2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKLE2	HGNC	protein_coding	OTTHUMT00000397712.1	C			133331702	-1	no_errors	ENST00000357997	ensembl	human	known	70_37	missense	SNP	0.413	T
SFT2D2	375035	genome.wustl.edu	37	1	168216235	168216235	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:168216235C>G	ENST00000271375.4	+	0	5012				ANKRD36BP1_ENST00000358576.4_RNA	NM_199344.2	NP_955376.1			SFT2 domain containing 2											lung(3)|skin(1)	4	all_hematologic(923;0.215)					AGGTCTTCTTCTTTTTCATGA	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	84832			AL035297	CCDS1271.1	1q24.2	2008-02-05			ENSG00000213064	ENSG00000213064			25140	protein-coding gene	gene with protein product							Standard	NM_199344		Approved	UNQ512, dJ747L4.C1.2	uc001gfi.4	O95562	OTTHUMG00000034650	ENST00000271375.4:c.*4457C>G	1.37:g.168216235C>G				Missense_Mutation	SNP	NULL	p.E17Q	ENST00000271375.4	37	c.49	CCDS1271.1	1	.	.	.	.	.	.	.	.	.	.	C	13.97	2.396753	0.42512	.	.	ENSG00000214262	ENST00000358576	.	.	.	0.827	0.827	0.18835	.	.	.	.	.	T	0.33265	0.0857	.	.	.	.	.	.	.	.	.	.	.	.	T	0.22661	-1.0210	4	0.66056	D	0.02	.	7.4555	0.27264	0.0:1.0:0.0:0.0	.	.	.	.	Q	17	.	ENSP00000351384:E17Q	E	-	1	0	ANKRD36BP1	166482859	1.000000	0.71417	0.194000	0.23346	0.340000	0.28889	0.975000	0.29449	0.729000	0.32403	0.205000	0.17691	GAA	ANKRD36BP1	-	NULL		0.328	SFT2D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36BP1	HGNC	protein_coding	OTTHUMT00000083827.2	C	NM_199344		168216235	-1	no_errors	ENST00000358576	ensembl	human	known	70_37	missense	SNP	0.959	G
ANO4	121601	genome.wustl.edu	37	12	101491724	101491724	+	Splice_Site	SNP	G	G	A	rs370149306		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:101491724G>A	ENST00000392977.3	+	21	2216		c.e21+1		ANO4_ENST00000550015.1_Splice_Site|ANO4_ENST00000392979.3_Splice_Site|ANO4_ENST00000299222.9_Splice_Site			Q32M45	ANO4_HUMAN	anoctamin 4						chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ttggctacccgtaagtacCTT	0.418										HNSCC(74;0.22)																																							0								G		0,4406		0,0,2203	129.0	118.0	122.0			5.8	1.0	12		122	1,8599	1.2+/-3.3	0,1,4299	no	splice-5	ANO4	NM_178826.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077			101491724	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	121601			AK091540	CCDS31884.1, CCDS66445.1	12q23.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000151572	ENSG00000151572		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	23837	protein-coding gene	gene with protein product		610111	"""transmembrane protein 16D"""	TMEM16D		12739008, 15067359, 24692353	Standard	NM_178826		Approved	FLJ34221, FLJ34272, FLJ35277	uc001thw.2	Q32M45		ENST00000392977.3:c.2006+1G>A	12.37:g.101491724G>A			Q8NAJ0|Q8NB39|Q8NB53	Splice_Site	SNP	-	e20+1	ENST00000392977.3	37	c.2006+1		12																																																																																			ANO4	-	-		0.418	ANO4-002	KNOWN	basic	protein_coding	ANO4	HGNC	protein_coding	OTTHUMT00000409295.1	G	NM_178826	Intron	101491724	+1	no_errors	ENST00000392977	ensembl	human	known	70_37	splice_site	SNP	1.000	A
AP5B1	91056	genome.wustl.edu	37	11	65546305	65546305	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:65546305C>A	ENST00000532090.2	-	2	1869	c.1659G>T	c.(1657-1659)caG>caT	p.Q553H		NM_138368.4	NP_612377.4	Q2VPB7	AP5B1_HUMAN	adaptor-related protein complex 5, beta 1 subunit	553					endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-type membrane coat adaptor complex (GO:0030119)|lysosomal membrane (GO:0005765)				lung(1)	1						GGGTAGCACTCTGGGCATCTC	0.647																																																	0													24.0	28.0	27.0					11																	65546305		2077	4209	6286	SO:0001583	missense	91056			JQ313135	CCDS58146.1	11q13.1	2012-02-29			ENSG00000254470	ENSG00000254470			25104	protein-coding gene	gene with protein product		614367				22022230	Standard	NM_138368		Approved	PP1030, AP-5, DKFZp761E198	uc031qbm.1	Q2VPB7	OTTHUMG00000166593	ENST00000532090.2:c.1659G>T	11.37:g.65546305C>A	ENSP00000454303:p.Gln553His		A1L0S6|H6WUK2|Q0D2Q2|Q8N3J7|Q8WYH6	Missense_Mutation	SNP	NULL	p.Q553H	ENST00000532090.2	37	c.1659	CCDS58146.1	11																																																																																			AP5B1	-	NULL		0.647	AP5B1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AP5B1	HGNC	protein_coding	OTTHUMT00000390636.2	C	NM_138368		65546305	-1	no_errors	ENST00000532090	ensembl	human	novel	70_37	missense	SNP	0.866	A
APBA2	321	genome.wustl.edu	37	15	29393976	29393976	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:29393976G>A	ENST00000558402.1	+	11	2112	c.1513G>A	c.(1513-1515)Gag>Aag	p.E505K	APBA2_ENST00000411764.1_Missense_Mutation_p.E493K|APBA2_ENST00000561069.1_Missense_Mutation_p.E505K|APBA2_ENST00000558259.1_Missense_Mutation_p.E505K|APBA2_ENST00000558330.1_Missense_Mutation_p.E493K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	505	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		CCATGTGTTCGAGTCGGAGGA	0.617																																																	0													65.0	49.0	54.0					15																	29393976		2203	4298	6501	SO:0001583	missense	321			AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.1513G>A	15.37:g.29393976G>A	ENSP00000453293:p.Glu505Lys		E9PGI4|O60571|Q5XKC0	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.E505K	ENST00000558402.1	37	c.1513	CCDS10022.1	15	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790074	0.90367	.	.	ENSG00000034053	ENST00000411764;ENST00000219865;ENST00000382938	T	0.21361	2.01	4.47	4.47	0.54385	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.151013	0.45606	D	0.000353	T	0.49423	0.1556	M	0.79693	2.465	0.80722	D	1	P;D;D;P	0.89917	0.949;1.0;1.0;0.801	P;D;D;P	0.87578	0.623;0.974;0.998;0.487	T	0.54702	-0.8254	10	0.59425	D	0.04	.	16.6604	0.85239	0.0:0.0:1.0:0.0	.	493;197;493;505	Q5XKC0;Q6ZVB1;E9PGI4;Q99767	.;.;.;APBA2_HUMAN	K	493;505;197	ENSP00000409312:E493K	ENSP00000219865:E505K	E	+	1	0	APBA2	27181268	1.000000	0.71417	1.000000	0.80357	0.581000	0.36288	9.352000	0.97076	2.472000	0.83506	0.655000	0.94253	GAG	APBA2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.617	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA2	HGNC	protein_coding	OTTHUMT00000251362.3	G	NM_005503		29393976	+1	no_errors	ENST00000558259	ensembl	human	known	70_37	missense	SNP	1.000	A
ARGFX	503582	genome.wustl.edu	37	3	121305032	121305032	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:121305032C>T	ENST00000334384.3	+	4	543	c.533C>T	c.(532-534)tCc>tTc	p.S178F		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	178					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		TTCTACAGCTCCCTTCCATCT	0.488																																																	0													186.0	174.0	178.0					3																	121305032		2203	4300	6503	SO:0001583	missense	503582				CCDS33834.1	3q13.33	2011-06-20			ENSG00000186103	ENSG00000186103		"""Homeoboxes / PRD class"""	30146	protein-coding gene	gene with protein product		611164					Standard	XM_005247505		Approved		uc003eef.3	A6NJG6	OTTHUMG00000159395	ENST00000334384.3:c.533C>T	3.37:g.121305032C>T	ENSP00000335578:p.Ser178Phe			Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S178F	ENST00000334384.3	37	c.533	CCDS33834.1	3	.	.	.	.	.	.	.	.	.	.	C	8.377	0.836570	0.16891	.	.	ENSG00000186103	ENST00000334384	D	0.90069	-2.61	3.56	-1.34	0.09143	.	0.932084	0.08892	N	0.878495	T	0.76083	0.3938	N	0.17082	0.46	0.09310	N	1	B	0.21225	0.053	B	0.20767	0.031	T	0.60439	-0.7263	10	0.33940	T	0.23	-0.0141	3.3564	0.07171	0.1788:0.419:0.0:0.4023	.	178	A6NJG6	ARGFX_HUMAN	F	178	ENSP00000335578:S178F	ENSP00000335578:S178F	S	+	2	0	ARGFX	122787722	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.075000	0.11431	-0.295000	0.08960	-0.310000	0.09108	TCC	ARGFX	-	NULL		0.488	ARGFX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARGFX	HGNC	protein_coding	OTTHUMT00000355096.2	C	NM_001012659		121305032	+1	no_errors	ENST00000334384	ensembl	human	known	70_37	missense	SNP	0.000	T
ARHGAP21	57584	genome.wustl.edu	37	10	24923951	24923951	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:24923951C>T	ENST00000396432.2	-	5	836	c.350G>A	c.(349-351)gGa>gAa	p.G117E		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	116	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TGTACATAATCCAGCTTCAAA	0.333																																																	0													118.0	110.0	113.0					10																	24923951		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.350G>A	10.37:g.24923951C>T	ENSP00000379709:p.Gly117Glu		Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.G117E	ENST00000396432.2	37	c.350	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676225	0.88445	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000376410;ENST00000446003;ENST00000416305;ENST00000535396	T;T;T;T	0.35973	1.28;1.28;1.28;1.28	4.9	4.9	0.64082	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.79011	2.435	0.80722	D	1	D;D;D	0.89917	0.999;0.997;1.0	D;D;D	0.83275	0.985;0.978;0.996	T	0.66854	-0.5818	10	0.62326	D	0.03	.	17.2101	0.86928	0.0:1.0:0.0:0.0	.	117;116;116	F8W9U9;Q5T5U2;Q5T5U3	.;.;RHG21_HUMAN	E	117;116;117;117;106;19	ENSP00000379709:G117E;ENSP00000365592:G117E;ENSP00000405018:G117E;ENSP00000400566:G106E	ENSP00000365592:G117E	G	-	2	0	ARHGAP21	24963957	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.731000	0.74785	2.420000	0.82092	0.557000	0.71058	GGA	ARHGAP21	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.333	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24923951	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP28	79822	genome.wustl.edu	37	18	6873519	6873519	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr18:6873519G>C	ENST00000383472.4	+	8	1170	c.1066G>C	c.(1066-1068)Gat>Cat	p.D356H	ARHGAP28_ENST00000419673.2_Missense_Mutation_p.D197H|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.D197H|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.D192H|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.D179H|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.D197H|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.D356H|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.D304H			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	356					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGCCTTTTTTGATGCCTTTGG	0.398																																																	0													134.0	138.0	136.0					18																	6873519		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1066G>C	18.37:g.6873519G>C	ENSP00000372964:p.Asp356His		A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.D356H	ENST00000383472.4	37	c.1066		18	.	.	.	.	.	.	.	.	.	.	G	22.7	4.320714	0.81469	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.11277	2.99;2.95;2.85;2.86;2.85;2.79	5.26	5.26	0.73747	.	0.202561	0.51477	D	0.000098	T	0.36331	0.0963	M	0.76727	2.345	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.947;0.996;0.998;0.998	T	0.10019	-1.0648	10	0.87932	D	0	.	19.224	0.93810	0.0:0.0:1.0:0.0	.	356;188;197;304	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	H	356;304;197;192;197;197;188;179	ENSP00000382963:D356H;ENSP00000262227:D304H;ENSP00000392660:D197H;ENSP00000437262:D192H;ENSP00000313506:D197H;ENSP00000406907:D197H	ENSP00000262227:D304H	D	+	1	0	ARHGAP28	6863519	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.103000	0.77014	2.614000	0.88457	0.650000	0.86243	GAT	ARHGAP28	-	NULL		0.398	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	G	XM_371108		6873519	+1	no_errors	ENST00000400091	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGAP35	2909	genome.wustl.edu	37	19	47503760	47503760	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:47503760C>T	ENST00000404338.3	+	6	4315	c.4315C>T	c.(4315-4317)Cgg>Tgg	p.R1439W		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	1439					axon guidance (GO:0007411)|camera-type eye development (GO:0043010)|forebrain development (GO:0030900)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of vascular permeability (GO:0043116)|neural tube closure (GO:0001843)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|nucleus (GO:0005634)	DNA binding (GO:0003677)|GTP binding (GO:0005525)|Rho GTPase activator activity (GO:0005100)|transcription corepressor activity (GO:0003714)										CTTCTACAATCGGCCCATCAC	0.607																																																	0													128.0	135.0	133.0					19																	47503760		2071	4193	6264	SO:0001583	missense	2909			M73077	CCDS46127.1	19q13.32	2011-06-29	2011-06-07	2011-06-07	ENSG00000160007	ENSG00000160007		"""Rho GTPase activating proteins"""	4591	protein-coding gene	gene with protein product		605277	"""glucocorticoid receptor DNA binding factor 1"""	GRLF1		1894621, 20675588	Standard	NM_004491		Approved	GRF-1, p190ARhoGAP, P190A, KIAA1722, p190RhoGAP	uc010ekv.3	Q9NRY4		ENST00000404338.3:c.4315C>T	19.37:g.47503760C>T	ENSP00000385720:p.Arg1439Trp		A7E2A4|Q14452|Q9C0E1	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R1439W	ENST00000404338.3	37	c.4315	CCDS46127.1	19	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616182	0.87359	.	.	ENSG00000160007	ENST00000317082;ENST00000404338	T	0.08008	3.14	5.09	4.05	0.47172	.	0.060019	0.64402	D	0.000002	T	0.15912	0.0383	L	0.36672	1.1	0.47276	D	0.999376	D	0.69078	0.997	P	0.57776	0.827	T	0.01242	-1.1408	10	0.66056	D	0.02	-25.3781	14.118	0.65167	0.1513:0.8487:0.0:0.0	.	1439	Q9NRY4-2	.	W	1439	ENSP00000385720:R1439W	ENSP00000324820:R1439W	R	+	1	2	ARHGAP35	52195600	0.993000	0.37304	0.960000	0.40013	0.831000	0.47069	3.625000	0.54238	1.365000	0.46057	0.655000	0.94253	CGG	ARHGAP35	-	NULL		0.607	ARHGAP35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP35	HGNC	protein_coding	OTTHUMT00000466652.1	C	NM_004491		47503760	+1	no_errors	ENST00000404338	ensembl	human	known	70_37	missense	SNP	0.999	T
ARHGAP36	158763	genome.wustl.edu	37	X	130222682	130222682	+	Missense_Mutation	SNP	C	C	T	rs267606352		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:130222682C>T	ENST00000276211.5	+	12	1912	c.1567C>T	c.(1567-1569)Ccg>Tcg	p.P523S	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.P511S|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.P387S	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	523					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CCCTCCCATTCCGGAGCAAGA	0.542																																																	0													71.0	62.0	65.0					X																	130222682		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1567C>T	X.37:g.130222682C>T	ENSP00000276211:p.Pro523Ser		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P523S	ENST00000276211.5	37	c.1567	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	2.041	-0.420118	0.04734	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.12039	2.72;2.74;2.74;2.72	4.31	2.45	0.29901	.	1.439550	0.04769	N	0.427693	T	0.09686	0.0238	N	0.08118	0	0.09310	N	1	B;B;B	0.23891	0.039;0.039;0.093	B;B;B	0.26864	0.043;0.043;0.074	T	0.39078	-0.9631	10	0.54805	T	0.06	.	9.5713	0.39429	0.0:0.5722:0.4278:0.0	.	492;511;523	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	S	523;511;492;387	ENSP00000276211:P523S;ENSP00000359960:P511S;ENSP00000408515:P492S;ENSP00000359959:P387S	ENSP00000276211:P523S	P	+	1	0	ARHGAP36	130050363	0.736000	0.28164	0.286000	0.24833	0.032000	0.12392	0.999000	0.29757	0.522000	0.28464	0.600000	0.82982	CCG	ARHGAP36	-	NULL		0.542	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130222682	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	0.248	T
ARHGAP5	394	genome.wustl.edu	37	14	32560776	32560776	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:32560776C>T	ENST00000345122.3	+	2	1216	c.901C>T	c.(901-903)Cct>Tct	p.P301S	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.P301S|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.P301S|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.P301S|ARHGAP5_ENST00000396582.2_Intron	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	301	FF 1.				cell adhesion (GO:0007155)|GTP catabolic process (GO:0006184)|mammary gland development (GO:0030879)|positive regulation of cell migration (GO:0030335)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell size (GO:0008361)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAAAAATCATCCTGATTATGA	0.313																																					NSCLC(9;77 350 3443 29227 41353)												0													71.0	81.0	78.0					14																	32560776		2194	4283	6477	SO:0001583	missense	394			U17032	CCDS32062.1, CCDS45095.1	14q12	2010-02-05						"""Rho GTPase activating proteins"""	675	protein-coding gene	gene with protein product		602680	"""growth factor independent 2"""	GFI2		8537347	Standard	XM_005267635		Approved	RhoGAP5, p190-B, p190BRhoGAP	uc001wrn.3	Q13017		ENST00000345122.3:c.901C>T	14.37:g.32560776C>T	ENSP00000371897:p.Pro301Ser		A1L375|A1L376|A8KAA1|D3DS89|D3DS90|Q05BE8|Q05BU8|Q59ER0|Q6DHZ3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase	p.P301S	ENST00000345122.3	37	c.901	CCDS32062.1	14	.	.	.	.	.	.	.	.	.	.	C	8.636	0.894879	0.17613	.	.	ENSG00000100852	ENST00000556611;ENST00000539826;ENST00000345122;ENST00000432921	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	5.64	5.64	0.86602	FF domain (1);	0.168623	0.52532	D	0.000066	T	0.10035	0.0246	L	0.31065	0.9	0.45118	D	0.998136	B;B	0.19445	0.036;0.021	B;B	0.23150	0.044;0.02	T	0.08391	-1.0724	10	0.51188	T	0.08	.	12.9733	0.58525	0.0:0.9261:0.0:0.0739	.	301;301	Q13017-2;Q13017	.;RHG05_HUMAN	S	301	ENSP00000452222:P301S;ENSP00000441692:P301S;ENSP00000371897:P301S;ENSP00000393307:P301S	ENSP00000371897:P301S	P	+	1	0	ARHGAP5	31630527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.298000	0.43602	2.646000	0.89796	0.563000	0.77884	CCT	ARHGAP5	-	superfamily_FF_domain,smart_FF_domain		0.313	ARHGAP5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP5	HGNC	protein_coding	OTTHUMT00000409735.1	C	NM_001030055		32560776	+1	no_errors	ENST00000345122	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGEF11	9826	genome.wustl.edu	37	1	156928604	156928604	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:156928604C>G	ENST00000361409.2	-	16	2054	c.1312G>C	c.(1312-1314)Gac>Cac	p.D438H	ARHGEF11_ENST00000368194.3_Missense_Mutation_p.D478H	NM_014784.3	NP_055599.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	438	RGSL. {ECO:0000255|PROSITE- ProRule:PRU00171}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cytokinesis (GO:0000910)|establishment of cell polarity (GO:0030010)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)|striated muscle contraction (GO:0006941)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCATCCAGGTCCAGCAGGTCA	0.522																																																	0													56.0	53.0	54.0					1																	156928604		2203	4300	6503	SO:0001583	missense	9826			AB002378	CCDS1162.1, CCDS1163.1	1q21	2011-11-16			ENSG00000132694	ENSG00000132694		"""Rho guanine nucleotide exchange factors"""	14580	protein-coding gene	gene with protein product		605708				10526156, 9205841	Standard	NM_014784		Approved	KIAA0380, GTRAP48, PDZ-RHOGEF	uc001fqn.3	O15085	OTTHUMG00000041292	ENST00000361409.2:c.1312G>C	1.37:g.156928604C>G	ENSP00000354644:p.Asp438His		D3DVD0|Q5VY40|Q6PFW2	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain	p.D478H	ENST00000361409.2	37	c.1432	CCDS1162.1	1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056709	0.55325	.	.	ENSG00000132694	ENST00000368194;ENST00000361409	D;D	0.84370	-1.84;-1.84	4.98	4.98	0.66077	Regulator of G protein signalling superfamily (1);Regulator of G protein signalling-like fold (1);	0.198146	0.34959	N	0.003554	T	0.74574	0.3734	L	0.40543	1.245	0.80722	D	1	B;B	0.22003	0.063;0.029	B;B	0.20384	0.029;0.011	T	0.72887	-0.4156	10	0.51188	T	0.08	-7.9506	18.0224	0.89259	0.0:1.0:0.0:0.0	.	438;478	O15085;O15085-2	ARHGB_HUMAN;.	H	478;438	ENSP00000357177:D478H;ENSP00000354644:D438H	ENSP00000354644:D438H	D	-	1	0	ARHGEF11	155195228	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.213000	0.58520	2.606000	0.88127	0.491000	0.48974	GAC	ARHGEF11	-	pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam		0.522	ARHGEF11-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGEF11	HGNC	protein_coding	OTTHUMT00000098931.1	C	NM_198236		156928604	-1	no_errors	ENST00000368194	ensembl	human	known	70_37	missense	SNP	1.000	G
ARMC4	55130	genome.wustl.edu	37	10	28273994	28273994	+	Nonsense_Mutation	SNP	G	G	A	rs569047328	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:28273994G>A	ENST00000305242.5	-	4	621	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	ARMC4_ENST00000239715.3_Nonsense_Mutation_p.Q34*|ARMC4_ENST00000537576.1_5'Flank	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	177					cell projection organization (GO:0030030)|cilium movement (GO:0003341)|left/right axis specification (GO:0070986)|outer dynein arm assembly (GO:0036158)|ventricular system development (GO:0021591)	axoneme (GO:0005930)|ciliary base (GO:0097546)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGATCCAATTGCTTAAGCAGC	0.338																																																	0													78.0	71.0	73.0					10																	28273994		2203	4300	6503	SO:0001587	stop_gained	55130			AL136859	CCDS7157.1	10p12.1-p11.23	2014-02-03			ENSG00000169126	ENSG00000169126		"""Armadillo repeat containing"""	25583	protein-coding gene	gene with protein product		615408				11230166	Standard	XM_005252485		Approved	FLJ10817, FLJ10376, DKFZP434P1735, CILD23	uc001itz.3	Q5T2S8	OTTHUMG00000017867	ENST00000305242.5:c.529C>T	10.37:g.28273994G>A	ENSP00000306410:p.Gln177*		A8K906|B7Z7I1|Q9H0C0	Nonsense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo	p.Q177*	ENST00000305242.5	37	c.529	CCDS7157.1	10	.	.	.	.	.	.	.	.	.	.	G	18.63	3.666220	0.67814	.	.	ENSG00000169126	ENST00000305242;ENST00000434029;ENST00000239715	.	.	.	5.55	3.65	0.41850	.	0.534254	0.20981	N	0.082211	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.7034	15.1297	0.72514	0.0:0.2691:0.7309:0.0	.	.	.	.	X	177;71;34	.	ENSP00000239715:Q34X	Q	-	1	0	ARMC4	28314000	1.000000	0.71417	0.006000	0.13384	0.072000	0.16883	2.840000	0.48215	0.665000	0.31066	-0.291000	0.09656	CAA	ARMC4	-	NULL		0.338	ARMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC4	HGNC	protein_coding	OTTHUMT00000047339.1	G	NM_018076		28273994	-1	no_errors	ENST00000305242	ensembl	human	known	70_37	nonsense	SNP	0.889	A
ASH1L	55870	genome.wustl.edu	37	1	155532244	155532244	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:155532244G>C	ENST00000368346.3	-	0	240				ASH1L_ENST00000392403.3_5'UTR|ASH1L_ENST00000548830.1_Intron|ASH1L-AS1_ENST00000452809.1_RNA			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)						cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			ggcagcagcagagtggcggcg	0.711																																																	0																																										SO:0001623	5_prime_UTR_variant	645676			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.-400C>G	1.37:g.155532244G>C			Q59GP1|Q5T714|Q5T715|Q9P2C7	RNA	SNP	-	NULL	ENST00000368346.3	37	NULL		1																																																																																			ASH1L-AS1	-	-		0.711	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	ASH1L-AS1	HGNC	protein_coding	OTTHUMT00000039400.1	G	NM_018489		155532244	+1	no_errors	ENST00000594351	ensembl	human	known	70_37	rna	SNP	0.041	C
ASTN2	23245	genome.wustl.edu	37	9	119382606	119382606	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:119382606G>T	ENST00000313400.4	-	18	3289	c.3189C>A	c.(3187-3189)agC>agA	p.S1063R	ASTN2_ENST00000361477.3_Missense_Mutation_p.S115R|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1059R|ASTN2_ENST00000341734.4_Missense_Mutation_p.S115R|ASTN2_ENST00000288520.5_Missense_Mutation_p.S164R|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1012R|ASTN2_ENST00000358637.4_Missense_Mutation_p.S115R			O75129	ASTN2_HUMAN	astrotactin 2	1063					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCAGAAGGGGGCTGCAGTTGG	0.567																																																	0													115.0	107.0	110.0					9																	119382606		2203	4300	6503	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.3189C>A	9.37:g.119382606G>T	ENSP00000314038:p.Ser1063Arg		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.S1063R	ENST00000313400.4	37	c.3189		9	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218699	0.58560	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000288520;ENST00000341734;ENST00000373986;ENST00000361209;ENST00000361477;ENST00000358637	T;T;T;T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27;1.27;1.27;1.27	6.08	6.08	0.98989	.	0.124643	0.64402	D	0.000001	T	0.49541	0.1563	L	0.47716	1.5	0.58432	D	0.999994	P;P;D;D;P;D;P;P	0.71674	0.852;0.852;0.995;0.998;0.771;0.99;0.852;0.852	B;B;P;P;B;P;B;P	0.62649	0.387;0.387;0.827;0.905;0.38;0.891;0.387;0.61	T	0.28902	-1.0029	9	.	.	.	-26.8282	13.8098	0.63256	0.0695:0.0:0.9305:0.0	.	115;115;786;1012;1063;1059;115;164	B7ZKP4;B7ZKP5;A2A2T8;O75129-2;O75129;O75129-3;O75129-6;O75129-4	.;.;.;.;ASTN2_HUMAN;.;.;.	R	1063;1059;164;115;786;1012;115;115	ENSP00000314038:S1063R;ENSP00000363108:S1059R;ENSP00000288520:S164R;ENSP00000339925:S115R;ENSP00000363098:S786R;ENSP00000354504:S1012R;ENSP00000355116:S115R;ENSP00000351460:S115R	.	S	-	3	2	ASTN2	118422427	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.349000	0.59385	2.894000	0.99253	0.655000	0.94253	AGC	ASTN2	-	NULL		0.567	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding		G	NM_014010		119382606	-1	no_errors	ENST00000313400	ensembl	human	known	70_37	missense	SNP	1.000	T
ATAD3B	83858	genome.wustl.edu	37	1	1425636	1425636	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:1425636G>A	ENST00000308647.7	+	14	1453		c.e14-1			NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B							mitochondrial inner membrane (GO:0005743)	ATP binding (GO:0005524)			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGTCCTACAGATTCATGCTG	0.617																																																	0													57.0	55.0	55.0					1																	1425636		2201	4299	6500	SO:0001630	splice_region_variant	83858			AL834179	CCDS30.1	1p36.33	2010-04-21		2007-02-08	ENSG00000160072	ENSG00000160072		"""ATPases / AAA-type"""	24007	protein-coding gene	gene with protein product		612317				10574462	Standard	XM_005244806		Approved	TOB3, KIAA1273	uc001afv.3	Q5T9A4	OTTHUMG00000000577	ENST00000308647.7:c.1338-1G>A	1.37:g.1425636G>A			A8K3H1|Q6ZRB5|Q9BUK4|Q9ULE7	Splice_Site	SNP	-	e14-1	ENST00000308647.7	37	c.1338-1	CCDS30.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|.	3.579|3.579	-0.086068|-0.086068	0.07097|0.07097	.|.	.|.	ENSG00000160072|ENSG00000160072	ENST00000308647|ENST00000378737	.|.	.|.	.|.	2.07|2.07	1.12|1.12	0.20585|0.20585	.|.	.|.	.|.	.|.	.|.	.|T	.|0.27134	.|0.0665	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.17531	.|-1.0366	.|5	.|0.02654	.|T	.|1	.|.	8.0125|8.0125	0.30361|0.30361	0.1329:0.0:0.8671:0.0|0.1329:0.0:0.8671:0.0	.|.	.|.	.|.	.|.	.|K	-1|249	.|.	.|ENSP00000368011:R249K	.|R	+|+	.|2	.|0	ATAD3B|ATAD3B	1415499|1415499	1.000000|1.000000	0.71417|0.71417	0.759000|0.759000	0.31340|0.31340	0.012000|0.012000	0.07955|0.07955	7.538000|7.538000	0.82048|0.82048	0.199000|0.199000	0.20427|0.20427	-1.054000|-1.054000	0.02325|0.02325	.|AGA	ATAD3B	-	-		0.617	ATAD3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD3B	HGNC	protein_coding	OTTHUMT00000001369.2	G	NM_031921	Intron	1425636	+1	no_errors	ENST00000308647	ensembl	human	known	70_37	splice_site	SNP	1.000	A
ATP11C	286410	genome.wustl.edu	37	X	138813883	138813883	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:138813883G>T	ENST00000327569.3	-	29	3427	c.3329C>A	c.(3328-3330)tCa>tAa	p.S1110*	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Intron|ATP11C_ENST00000370557.1_Intron	NM_173694.4	NP_775965	Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	1110					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|positive regulation of B cell differentiation (GO:0045579)|pre-B cell differentiation (GO:0002329)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GGCGGATAATGAGTCAGATGC	0.383																																																	0													106.0	92.0	97.0					X																	138813883		2203	4299	6502	SO:0001587	stop_gained	286410			AJ580094	CCDS14668.1, CCDS35410.1	Xq27.1	2011-06-09	2007-09-19		ENSG00000101974	ENSG00000101974		"""ATPases / P-type"""	13554	protein-coding gene	gene with protein product		300516	"""ATPase, Class VI, type 11C"""			11015572	Standard	NM_173694		Approved	ATPIG, ATPIQ	uc004faz.3	Q8NB49	OTTHUMG00000022538	ENST00000327569.3:c.3329C>A	X.37:g.138813883G>T	ENSP00000332756:p.Ser1110*		Q5JT69|Q5JT70|Q5JT71|Q5JT72|Q5JT73|Q6ZND5|Q6ZU50|Q6ZUP7|Q70IJ9|Q70IK0|Q8WX24	Nonsense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.S1110*	ENST00000327569.3	37	c.3329	CCDS14668.1	X	.	.	.	.	.	.	.	.	.	.	G	40	8.359873	0.98777	.	.	ENSG00000101974	ENST00000327569	.	.	.	5.76	4.87	0.63330	.	1.155370	0.06369	N	0.713187	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	14.9298	0.70906	0.0:0.1387:0.8613:0.0	.	.	.	.	X	1110	.	ENSP00000332756:S1110X	S	-	2	0	ATP11C	138641549	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.241000	0.72369	2.433000	0.82419	0.600000	0.82982	TCA	ATP11C	-	NULL		0.383	ATP11C-008	KNOWN	basic|CCDS	protein_coding	ATP11C	HGNC	protein_coding	OTTHUMT00000354945.1	G	NM_173694		138813883	-1	no_errors	ENST00000327569	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ATRAID	51374	genome.wustl.edu	37	2	27438606	27438606	+	Missense_Mutation	SNP	A	A	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:27438606A>G	ENST00000606999.1	+	5	530	c.472A>G	c.(472-474)Aac>Gac	p.N158D	ATRAID_ENST00000380171.3_Missense_Mutation_p.N213D|CAD_ENST00000264705.4_5'Flank|ATRAID_ENST00000405489.3_Missense_Mutation_p.N100D|CAD_ENST00000403525.1_5'Flank	NM_001170795.1	NP_001164266.1	Q6UW56	ARAID_HUMAN	all-trans retinoic acid-induced differentiation factor	158	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell differentiation (GO:0030154)|negative regulation of cyclin catabolic process (GO:2000599)|negative regulation of osteoblast proliferation (GO:0033689)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)											CCTTTGCAATAACACTGGGGA	0.413																																																	0													91.0	91.0	91.0					2																	27438606		2203	4300	6503	SO:0001583	missense	51374			BC021237	CCDS1741.1, CCDS46243.1, CCDS62877.1	2p23.3	2012-08-01	2012-07-30	2012-07-30	ENSG00000138085	ENSG00000138085			24090	protein-coding gene	gene with protein product	"""apoptosis-related protein 3"""		"""chromosome 2 open reading frame 28"""	C2orf28		17524364, 21723284	Standard	NM_016085		Approved	HSPC013, p18, APR3	uc002rjf.3	Q6UW56	OTTHUMG00000128405	ENST00000606999.1:c.472A>G	2.37:g.27438606A>G	ENSP00000476080:p.Asn158Asp		A8C1S2|A8K779|Q96FF6|Q96RT2|Q9Y2R7|Q9Y5L7	Missense_Mutation	SNP	pfscan_EG-like_dom	p.N213D	ENST00000606999.1	37	c.637		2	.	.	.	.	.	.	.	.	.	.	A	4.713	0.132560	0.09032	.	.	ENSG00000138085	ENST00000380171;ENST00000405489	T;T	0.43294	0.95;0.98	5.3	4.16	0.48862	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.326257	0.38605	N	0.001629	T	0.20129	0.0484	N	0.08118	0	0.22354	N	0.999173	B;B	0.25667	0.031;0.131	B;B	0.23419	0.016;0.046	T	0.09357	-1.0678	10	0.29301	T	0.29	-26.4305	7.065	0.25147	0.9011:0.0:0.0989:0.0	.	158;213	Q6UW56;Q6UW56-3	APR3_HUMAN;.	D	213;100	ENSP00000369518:N213D;ENSP00000384033:N100D	ENSP00000369518:N213D	N	+	1	0	C2orf28	27292110	0.996000	0.38824	0.991000	0.47740	0.377000	0.30045	0.906000	0.28517	2.014000	0.59158	0.533000	0.62120	AAC	ATRAID	-	pfscan_EG-like_dom		0.413	ATRAID-007	NOVEL	basic|appris_principal	protein_coding	ATRAID	HGNC	protein_coding	OTTHUMT00000470709.1	A	NM_016085		27438606	+1	no_errors	ENST00000380171	ensembl	human	known	70_37	missense	SNP	0.995	G
ATXN1	6310	genome.wustl.edu	37	6	16327578	16327578	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:16327578C>G	ENST00000244769.4	-	8	1900	c.964G>C	c.(964-966)Gag>Cag	p.E322Q	ATXN1_ENST00000436367.1_Missense_Mutation_p.E322Q	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	322					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGGACCTCCTTGGCCTGG	0.667																																																	0													40.0	46.0	44.0					6																	16327578		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.964G>C	6.37:g.16327578C>G	ENSP00000244769:p.Glu322Gln		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E322Q	ENST00000244769.4	37	c.964	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	24.4	4.526276	0.85600	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.35789	1.29;1.29	4.94	4.94	0.65067	.	0.101306	0.64402	D	0.000002	T	0.51550	0.1681	M	0.65498	2.005	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.52094	-0.8621	10	0.46703	T	0.11	-24.8775	18.1709	0.89745	0.0:1.0:0.0:0.0	.	322	P54253	ATX1_HUMAN	Q	322	ENSP00000244769:E322Q;ENSP00000416360:E322Q	ENSP00000244769:E322Q	E	-	1	0	ATXN1	16435557	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	7.252000	0.78309	2.283000	0.76528	0.462000	0.41574	GAG	ATXN1	-	NULL		0.667	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16327578	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	G
AURKC	6795	genome.wustl.edu	37	19	57742677	57742677	+	Intron	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:57742677G>A	ENST00000302804.7	+	1	244				AURKC_ENST00000599062.1_Intron|AURKC_ENST00000415300.2_Intron|AURKC_ENST00000448930.1_Intron|AURKC_ENST00000598785.1_5'Flank	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C						attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		CGAAGAGTGTGAGAGCCAGCG	0.632																																																	0													32.0	27.0	29.0					19																	57742677		2164	4147	6311	SO:0001627	intron_variant	6795				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.58+3G>A	19.37:g.57742677G>A			O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	NULL	p.E21K	ENST00000302804.7	37	c.61	CCDS33128.1	19																																																																																			AURKC	-	NULL		0.632	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AURKC	HGNC	protein_coding	OTTHUMT00000465089.1	G	NM_003160		57742677	+1	no_errors	ENST00000601799	ensembl	human	known	70_37	missense	SNP	0.000	A
BATF3	55509	genome.wustl.edu	37	1	212870663	212870663	+	Intron	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:212870663C>G	ENST00000243440.1	-	2	313				BATF3_ENST00000478275.1_5'UTR	NM_018664.2	NP_061134.1	Q9NR55	BATF3_HUMAN	basic leucine zipper transcription factor, ATF-like 3						dendritic cell differentiation (GO:0097028)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to virus (GO:0009615)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(81;0.0046)|all cancers(67;0.00785)|GBM - Glioblastoma multiforme(131;0.0731)|Epithelial(68;0.0781)		ggaccttgctccaggtattac	0.502																																																	0																																										SO:0001627	intron_variant	55509			AF255346	CCDS1508.1	1q32.3	2013-01-10			ENSG00000123685	ENSG00000123685		"""basic leucine zipper proteins"""	28915	protein-coding gene	gene with protein product	"""Jun dimerization protein 1"""	612470				10878360, 12087103	Standard	NM_018664		Approved	JUNDM1, SNFT, JDP1	uc001hjl.2	Q9NR55	OTTHUMG00000036807	ENST00000243440.1:c.91-256G>C	1.37:g.212870663C>G				RNA	SNP	-	NULL	ENST00000243440.1	37	NULL	CCDS1508.1	1																																																																																			BATF3	-	-		0.502	BATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BATF3	HGNC	protein_coding	OTTHUMT00000089403.1	C	NM_018664		212870663	-1	no_errors	ENST00000478275	ensembl	human	known	70_37	rna	SNP	0.998	G
BCLAF1	9774	genome.wustl.edu	37	6	136600994	136600994	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:136600994G>A	ENST00000531224.1	-	3	263	c.11C>T	c.(10-12)tCc>tTc	p.S4F	BCLAF1_ENST00000527536.1_Missense_Mutation_p.S4F|BCLAF1_ENST00000527759.1_Missense_Mutation_p.S4F|BCLAF1_ENST00000353331.4_Missense_Mutation_p.S4F|BCLAF1_ENST00000530767.1_Missense_Mutation_p.S4F|BCLAF1_ENST00000392348.2_Missense_Mutation_p.S4F	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	4				S -> A (in Ref. 1; AAF64304). {ECO:0000305}.	apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTAGAATTGGAGCGACCCAT	0.308																																					Colon(142;1534 1789 5427 7063 28491)												0													81.0	72.0	75.0					6																	136600994		2203	4300	6503	SO:0001583	missense	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.11C>T	6.37:g.136600994G>A	ENSP00000435210:p.Ser4Phe		A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Missense_Mutation	SNP	NULL	p.S4F	ENST00000531224.1	37	c.11	CCDS5177.1	6	.	.	.	.	.	.	.	.	.	.	G	18.00	3.525011	0.64747	.	.	ENSG00000029363	ENST00000531224;ENST00000353331;ENST00000527536;ENST00000530767;ENST00000527759;ENST00000392348;ENST00000529826	T;T;T;T;T;T;T	0.27256	2.05;1.91;1.98;1.68;1.98;1.91;1.82	5.77	5.77	0.91146	.	0.000000	0.64402	D	0.000004	T	0.38904	0.1058	L	0.48642	1.525	0.80722	D	1	D;D;D;D	0.64830	0.994;0.994;0.994;0.994	D;D;D;D	0.74348	0.983;0.983;0.983;0.983	T	0.08249	-1.0731	10	0.87932	D	0	-4.5125	18.536	0.91010	0.0:0.0:1.0:0.0	.	4;4;4;4	Q9NYF8-2;Q9NYF8-3;Q9NYF8;Q9NYF8-4	.;.;BCLF1_HUMAN;.	F	4	ENSP00000435210:S4F;ENSP00000229446:S4F;ENSP00000435441:S4F;ENSP00000436501:S4F;ENSP00000434826:S4F;ENSP00000376159:S4F;ENSP00000431734:S4F	ENSP00000229446:S4F	S	-	2	0	BCLAF1	136642687	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.244000	0.65400	2.890000	0.99128	0.585000	0.79938	TCC	BCLAF1	-	NULL		0.308	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	G	NM_014739		136600994	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	missense	SNP	1.000	A
BDKRB1	623	genome.wustl.edu	37	14	96730334	96730334	+	Silent	SNP	C	C	T	rs370873606		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:96730334C>T	ENST00000216629.6	+	3	921	c.315C>T	c.(313-315)ttC>ttT	p.F105F	BDKRB1_ENST00000553356.1_Silent_p.F105F|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	105					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557																																																	0								C		1,4405	2.1+/-5.4	0,1,2202	77.0	76.0	76.0		315	-1.5	0.7	14		76	0,8600		0,0,4300	no	coding-synonymous	BDKRB1	NM_000710.3		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		105/354	96730334	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.315C>T	14.37:g.96730334C>T			A8K7F5|Q546S7|Q8N0Y8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_BK_rcpt_B1,prints_GPCR_Rhodpsn,prints_Brdyknn_rcpt	p.F105	ENST00000216629.6	37	c.315	CCDS9943.1	14																																																																																			BDKRB1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BDKRB1	HGNC	protein_coding	OTTHUMT00000413300.1	C			96730334	+1	no_errors	ENST00000216629	ensembl	human	known	70_37	silent	SNP	0.975	T
BIRC6	57448	genome.wustl.edu	37	2	32772925	32772925	+	Silent	SNP	G	G	T	rs368206423		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:32772925G>T	ENST00000421745.2	+	64	12953	c.12819G>T	c.(12817-12819)gtG>gtT	p.V4273V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4273					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGCCACAGGTGTCAAGCTCTC	0.378																																					Pancreas(94;175 1509 16028 18060 45422)												0								G		0,4406		0,0,2203	70.0	67.0	68.0		12819	2.3	1.0	2		68	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	BIRC6	NM_016252.3		0,1,6502	TT,TG,GG		0.0116,0.0,0.0077		4273/4858	32772925	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.12819G>T	2.37:g.32772925G>T			Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.V4273	ENST00000421745.2	37	c.12819	CCDS33175.2	2																																																																																			BIRC6	-	NULL		0.378	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	G	NM_016252		32772925	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	silent	SNP	0.984	T
C10orf2	56652	genome.wustl.edu	37	10	102748742	102748742	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:102748742G>A	ENST00000311916.2	+	1	960	c.775G>A	c.(775-777)Gag>Aag	p.E259K	MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000370236.1_5'Flank|C10orf2_ENST00000473656.1_Intron|MRPL43_ENST00000318325.2_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank|MRPL43_ENST00000299179.5_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.E259K|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|MRPL43_ENST00000342071.1_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	259					cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCGAGATGCTGAGGTGGTACT	0.572																																																	0													126.0	111.0	116.0					10																	102748742		2203	4300	6503	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.775G>A	10.37:g.102748742G>A	ENSP00000309595:p.Glu259Lys		B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.E259K	ENST00000311916.2	37	c.775	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	G	19.33	3.807841	0.70797	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	D;D	0.91407	-2.84;-2.84	5.54	5.54	0.83059	.	0.049845	0.85682	D	0.000000	D	0.93077	0.7796	L	0.58925	1.835	0.53005	D	0.999969	D;D	0.69078	0.99;0.997	P;D	0.63703	0.896;0.917	D	0.89997	0.4112	10	0.12430	T	0.62	-10.3847	18.0542	0.89358	0.0:0.0:1.0:0.0	.	259;259	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	K	259	ENSP00000309595:E259K;ENSP00000359248:E259K	ENSP00000309595:E259K	E	+	1	0	C10orf2	102738732	1.000000	0.71417	0.922000	0.36590	0.549000	0.35272	7.930000	0.87610	2.618000	0.88619	0.462000	0.41574	GAG	C10orf2	-	NULL		0.572	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	G	NM_021830		102748742	+1	no_errors	ENST00000311916	ensembl	human	known	70_37	missense	SNP	1.000	A
C1GALT1C1	29071	genome.wustl.edu	37	X	119760656	119760656	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:119760656C>T	ENST00000304661.5	-	2	604	c.366G>A	c.(364-366)atG>atA	p.M122I	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.M122I	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	122					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						AAGCTTTTCTCATCATTAACC	0.373																																																	0													74.0	74.0	74.0					X																	119760656		2203	4300	6503	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.366G>A	X.37:g.119760656C>T	ENSP00000304364:p.Met122Ile		A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.M122I	ENST00000304661.5	37	c.366	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	C	10.04	1.242755	0.22796	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.40756	1.02;1.02	5.14	5.14	0.70334	.	0.089446	0.85682	D	0.000000	T	0.36690	0.0976	L	0.47190	1.495	0.47949	D	0.99955	B	0.25719	0.132	B	0.16289	0.015	T	0.12630	-1.0540	9	.	.	.	-12.6226	16.3759	0.83392	0.0:1.0:0.0:0.0	.	122	Q96EU7	C1GLC_HUMAN	I	122	ENSP00000304364:M122I;ENSP00000360363:M122I	.	M	-	3	0	C1GALT1C1	119644684	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.575000	0.53870	2.259000	0.74868	0.544000	0.68410	ATG	C1GALT1C1	-	NULL		0.373	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	C	NM_152692		119760656	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	T
C1QBP	708	genome.wustl.edu	37	17	5342165	5342165	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:5342165C>T	ENST00000225698.4	-	1	310	c.229G>A	c.(229-231)Gac>Aac	p.D77N	C1QBP_ENST00000574444.1_5'Flank	NM_001212.3	NP_001203.1	Q07021	C1QBP_HUMAN	complement component 1, q subcomponent binding protein	77	C1q binding.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)|mature ribosome assembly (GO:0042256)|mRNA processing (GO:0006397)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of MDA-5 signaling pathway (GO:0039534)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dendritic cell chemotaxis (GO:2000510)|positive regulation of mitochondrial translation (GO:0070131)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of trophoblast cell migration (GO:1901165)|regulation of complement activation (GO:0030449)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	adrenergic receptor binding (GO:0031690)|complement component C1q binding (GO:0001849)|hyaluronic acid binding (GO:0005540)|kininogen binding (GO:0030984)|mitochondrial ribosome binding (GO:0097177)|mRNA binding (GO:0003729)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			lung(2)|ovary(1)	3					Hyaluronan(DB08818)	ACCTCACCGTCGGTGTGCAGC	0.682																																																	0													2.0	1.0	1.0					17																	5342165		795	1297	2092	SO:0001583	missense	708			X75913	CCDS11071.1	17p13.3	2009-05-07				ENSG00000108561			1243	protein-coding gene	gene with protein product	"""C1q globular domain-binding protein"", ""hyaluronan-binding protein 1"", ""splicing factor SF2-associated protein"""	601269		HABP1		8567680, 8195709	Standard	NM_001212		Approved	gC1Q-R, gC1qR, p32, SF2p32	uc002gby.1	Q07021		ENST00000225698.4:c.229G>A	17.37:g.5342165C>T	ENSP00000225698:p.Asp77Asn		Q2HXR8|Q9NNY8	Missense_Mutation	SNP	pfam_MAM33,superfamily_MAM33	p.D77N	ENST00000225698.4	37	c.229	CCDS11071.1	17	.	.	.	.	.	.	.	.	.	.	C	13.74	2.326813	0.41197	.	.	ENSG00000108561	ENST00000225698	.	.	.	4.24	3.25	0.37280	.	0.229525	0.42682	D	0.000673	T	0.39118	0.1066	N	0.19112	0.55	0.80722	D	1	B	0.26318	0.146	B	0.16289	0.015	T	0.35251	-0.9796	9	0.72032	D	0.01	.	10.0694	0.42324	0.0:0.7949:0.2051:0.0	.	77	Q07021	C1QBP_HUMAN	N	77	.	ENSP00000225698:D77N	D	-	1	0	C1QBP	5282889	0.960000	0.32886	0.812000	0.32479	0.038000	0.13279	2.439000	0.44846	1.085000	0.41206	0.563000	0.77884	GAC	C1QBP	-	superfamily_MAM33		0.682	C1QBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QBP	HGNC	protein_coding	OTTHUMT00000439388.1	C	NM_001212		5342165	-1	no_errors	ENST00000225698	ensembl	human	known	70_37	missense	SNP	0.963	T
CFAP61	26074	genome.wustl.edu	37	20	20054995	20054995	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:20054995C>T	ENST00000245957.5	+	4	420	c.344C>T	c.(343-345)tCt>tTt	p.S115F	C20orf26_ENST00000451767.2_Missense_Mutation_p.S115F|C20orf26_ENST00000377306.1_Missense_Mutation_p.S115F|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN		115										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GATGAGTATTCTGTTGGCTGT	0.443																																																	0													243.0	207.0	219.0					20																	20054995		2203	4300	6503	SO:0001583	missense	26074																														ENST00000245957.5:c.344C>T	20.37:g.20054995C>T	ENSP00000245957:p.Ser115Phe		A6NHA1|Q5JXV4|Q5TE18|Q8N5R9|Q96M59|Q9BQL2|Q9H127|Q9H128|Q9NQH4|Q9UFV8|Q9Y4V7	Missense_Mutation	SNP	superfamily_Acyl_CoA_acyltransferase	p.S115F	ENST00000245957.5	37	c.344	CCDS33447.1	20	.	.	.	.	.	.	.	.	.	.	C	16.77	3.216292	0.58452	.	.	ENSG00000089101	ENST00000340348;ENST00000343997;ENST00000389655;ENST00000245957;ENST00000377306;ENST00000377303;ENST00000475466;ENST00000451767;ENST00000472660	T;T;T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12;1.12;1.12	5.47	5.47	0.80525	.	0.211286	0.40640	N	0.001047	T	0.57198	0.2037	L	0.53249	1.67	0.80722	D	1	D;D;D;P	0.63880	0.993;0.973;0.993;0.95	P;P;P;P	0.62089	0.837;0.864;0.898;0.735	T	0.59295	-0.7481	10	0.87932	D	0	.	14.8243	0.70097	0.0:1.0:0.0:0.0	.	115;115;69;115	Q8NHU2-3;F8W6K4;F8W6E2;Q8NHU2	.;.;.;CT026_HUMAN	F	69;115;115;115;115;115;115;115;11	ENSP00000345553:S69F;ENSP00000245957:S115F;ENSP00000366521:S115F;ENSP00000366518:S115F;ENSP00000417086:S115F;ENSP00000414537:S115F;ENSP00000420498:S11F	ENSP00000245957:S115F	S	+	2	0	C20orf26	20002995	0.832000	0.29368	0.931000	0.37212	0.319000	0.28217	2.133000	0.42093	2.559000	0.86315	0.655000	0.94253	TCT	C20orf26	-	NULL		0.443	C20orf26-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf26	HGNC	protein_coding	OTTHUMT00000078228.3	C			20054995	+1	no_errors	ENST00000245957	ensembl	human	known	70_37	missense	SNP	0.800	T
C5	727	genome.wustl.edu	37	9	123783960	123783960	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:123783960C>T	ENST00000223642.1	-	11	1158	c.1129G>A	c.(1129-1131)Gat>Aat	p.D377N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	377					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	TCAAGCGAATCTTTAACCTGC	0.393																																																	0													149.0	145.0	146.0					9																	123783960		2203	4300	6503	SO:0001583	missense	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.1129G>A	9.37:g.123783960C>T	ENSP00000223642:p.Asp377Asn		Q14CJ0|Q27I61	Missense_Mutation	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.D377N	ENST00000223642.1	37	c.1129	CCDS6826.1	9	.	.	.	.	.	.	.	.	.	.	C	13.78	2.340752	0.41498	.	.	ENSG00000106804	ENST00000223642;ENST00000430906	T	0.32515	1.45	5.97	5.08	0.68730	.	0.044655	0.85682	N	0.000000	T	0.21631	0.0521	L	0.31926	0.97	0.45791	D	0.998674	D;P	0.54397	0.966;0.482	B;B	0.37650	0.255;0.088	T	0.02371	-1.1169	10	0.36615	T	0.2	.	12.7662	0.57393	0.0:0.9247:0.0:0.0753	.	448;377	Q59GS8;P01031	.;CO5_HUMAN	N	377;448	ENSP00000223642:D377N	ENSP00000223642:D377N	D	-	1	0	C5	122823781	1.000000	0.71417	0.752000	0.31206	0.776000	0.43924	3.980000	0.56895	1.535000	0.49220	0.655000	0.94253	GAT	C5	-	NULL		0.393	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123783960	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	missense	SNP	0.943	T
C8B	732	genome.wustl.edu	37	1	57399128	57399128	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:57399128C>T	ENST00000371237.4	-	10	1498	c.1432G>A	c.(1432-1434)Gat>Aat	p.D478N	C8B_ENST00000535057.1_Missense_Mutation_p.D416N|C8B_ENST00000543257.1_Missense_Mutation_p.D426N	NM_000066.2	NP_000057	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	478	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|membrane attack complex (GO:0005579)|vesicle (GO:0031982)				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TAGGCAAAATCTGTGGCTGTC	0.448																																																	0													80.0	72.0	75.0					1																	57399128		2203	4300	6503	SO:0001583	missense	732			M16973	CCDS30730.1, CCDS60151.1, CCDS60152.1	1p32.2	2014-09-17			ENSG00000021852	ENSG00000021852		"""Complement system"""	1353	protein-coding gene	gene with protein product		120960					Standard	NM_000066		Approved		uc001cyp.3	P07358	OTTHUMG00000008305	ENST00000371237.4:c.1432G>A	1.37:g.57399128C>T	ENSP00000360281:p.Asp478Asn		A1L4K7	Missense_Mutation	SNP	pfam_MACPF,pfam_LDrepeatLR_classA_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.D478N	ENST00000371237.4	37	c.1432	CCDS30730.1	1	.	.	.	.	.	.	.	.	.	.	C	8.042	0.764084	0.15914	.	.	ENSG00000021852	ENST00000371237;ENST00000543257;ENST00000535057	D;D;D	0.83992	-1.79;-1.79;-1.79	5.07	3.18	0.36537	Membrane attack complex component/perforin (MACPF) domain (3);	0.154695	0.56097	D	0.000022	T	0.78991	0.4371	M	0.69823	2.125	0.49915	D	0.999833	B;B;B	0.25048	0.054;0.096;0.117	B;B;B	0.23419	0.027;0.039;0.046	T	0.73272	-0.4035	10	0.19590	T	0.45	-25.2595	10.8379	0.46698	0.0:0.792:0.0:0.208	.	426;416;478	F5H7G1;F5GY80;P07358	.;.;CO8B_HUMAN	N	478;426;416	ENSP00000360281:D478N;ENSP00000442548:D426N;ENSP00000440113:D416N	ENSP00000360281:D478N	D	-	1	0	C8B	57171716	0.966000	0.33281	0.442000	0.26870	0.624000	0.37722	2.229000	0.42990	1.497000	0.48584	0.650000	0.86243	GAT	C8B	-	pfam_MACPF,smart_MACPF		0.448	C8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8B	HGNC	protein_coding	OTTHUMT00000022886.2	C			57399128	-1	no_errors	ENST00000371237	ensembl	human	known	70_37	missense	SNP	0.903	T
C9orf171	389799	genome.wustl.edu	37	9	135374101	135374101	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:135374101G>A	ENST00000343036.2	+	3	371	c.323G>A	c.(322-324)cGg>cAg	p.R108Q	C9orf171_ENST00000393215.3_Missense_Mutation_p.R72Q|C9orf171_ENST00000393216.2_Missense_Mutation_p.R72Q	NM_207417.1	NP_997300.1	Q6ZQR2	CI171_HUMAN	chromosome 9 open reading frame 171	108										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GGCAAGCCCCGGGAAAGAAGC	0.552																																																	0													28.0	29.0	29.0					9																	135374101		2203	4300	6503	SO:0001583	missense	389799			AK128819	CCDS6949.1, CCDS65167.1	9q34.13	2012-04-03			ENSG00000188523	ENSG00000188523			33776	protein-coding gene	gene with protein product							Standard	NM_207417		Approved	FLJ46082	uc004cbn.3	Q6ZQR2	OTTHUMG00000131684	ENST00000343036.2:c.323G>A	9.37:g.135374101G>A	ENSP00000343290:p.Arg108Gln		Q147X1	Missense_Mutation	SNP	NULL	p.R108Q	ENST00000343036.2	37	c.323	CCDS6949.1	9	.	.	.	.	.	.	.	.	.	.	G	17.94	3.512534	0.64522	.	.	ENSG00000188523	ENST00000393215;ENST00000343036;ENST00000393216	T;T;T	0.23754	1.89;1.89;1.89	5.14	4.22	0.49857	.	0.314949	0.25236	N	0.032125	T	0.15262	0.0368	L	0.43152	1.355	0.27799	N	0.942569	P;P	0.49358	0.534;0.923	B;B	0.32022	0.049;0.139	T	0.17561	-1.0365	10	0.25106	T	0.35	.	9.2106	0.37316	0.0832:0.0:0.7592:0.1576	.	72;108	Q6ZQR2-2;Q6ZQR2	.;CI171_HUMAN	Q	72;108;72	ENSP00000376908:R72Q;ENSP00000343290:R108Q;ENSP00000376909:R72Q	ENSP00000343290:R108Q	R	+	2	0	C9orf171	134363922	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	1.423000	0.34837	2.545000	0.85829	0.655000	0.94253	CGG	C9orf171	-	NULL		0.552	C9orf171-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf171	HGNC	protein_coding	OTTHUMT00000254589.1	G	NM_207417		135374101	+1	no_errors	ENST00000343036	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNA1G	8913	genome.wustl.edu	37	17	48683592	48683592	+	Intron	SNP	G	G	A	rs199892912		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:48683592G>A	ENST00000359106.5	+	23	4422				CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000502264.1_Intron|CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514717.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000507510.2_Intron|CACNA1G_ENST00000416767.4_Missense_Mutation_p.V1544I|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000503485.1_Intron|CACNA1G_ENST00000360761.4_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000514079.1_Intron|CACNA1G_ENST00000515165.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000354983.4_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit						axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.V1544I(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCTCTAGCCGTCCttaaaga	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19495	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)						G	,,,,,,,,,,,,,,ILE/VAL	2,4102		0,2,2050	9.0	12.0	11.0		,,,,,,,,,,,,,,4630	0.3	0.0	17		11	1,8363		0,1,4181	yes	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense	CACNA1G	NM_018896.3,NM_198376.1,NM_198377.1,NM_198378.1,NM_198379.1,NM_198380.1,NM_198382.1,NM_198383.1,NM_198384.1,NM_198385.1,NM_198386.1,NM_198387.1,NM_198388.1,NM_198396.1,NM_198397.1	,,,,,,,,,,,,,,29	0,3,6231	AA,AG,GG		0.012,0.0487,0.0241	,,,,,,,,,,,,,,	,,,,,,,,,,,,,,1544/1556	48683592	3,12465	2052	4182	6234	SO:0001627	intron_variant	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.4422+208G>A	17.37:g.48683592G>A			D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,prints_VDCC_T_a1su	p.V1544I	ENST00000359106.5	37	c.4630	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	6.431	0.447629	0.12223	4.87E-4	1.2E-4	ENSG00000006283	ENST00000416767	D	0.96856	-4.15	3.91	0.342	0.15996	.	.	.	.	.	D	0.91912	0.7439	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.83608	0.0132	5	.	.	.	.	3.5617	0.07885	0.0:0.4983:0.2057:0.296	.	.	.	.	I	1544	ENSP00000392390:V1544I	.	V	+	1	0	CACNA1G	46038591	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-0.304000	0.08199	-0.132000	0.11557	-1.130000	0.01982	GTC	CACNA1G	-	NULL		0.587	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	G	NM_018896		48683592	+1	no_errors	ENST00000416767	ensembl	human	putative	70_37	missense	SNP	0.001	A
CACNA1I	8911	genome.wustl.edu	37	22	40060829	40060829	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:40060829C>T	ENST00000402142.3	+	21	3752	c.3752C>T	c.(3751-3753)tCc>tTc	p.S1251F	CACNA1I_ENST00000401624.1_Missense_Mutation_p.S1251F|CACNA1I_ENST00000407673.1_Missense_Mutation_p.S1216F|CACNA1I_ENST00000400164.3_Missense_Mutation_p.S1216F|CACNA1I_ENST00000404898.1_Missense_Mutation_p.S1216F|CACNA1I_ENST00000336649.4_Missense_Mutation_p.S1257F	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1251					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GTCTTCGTGTCCATCATCGAC	0.657																																																	0													60.0	67.0	65.0					22																	40060829		2116	4229	6345	SO:0001583	missense	8911			AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.3752C>T	22.37:g.40060829C>T	ENSP00000385019:p.Ser1251Phe		B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.S1257F	ENST00000402142.3	37	c.3770	CCDS46710.1	22	.	.	.	.	.	.	.	.	.	.	C	28.7	4.943700	0.92593	.	.	ENSG00000100346	ENST00000402142;ENST00000404898;ENST00000401624;ENST00000407673;ENST00000336649;ENST00000400164	D;D;D;D;D;D	0.98649	-5.05;-5.05;-5.05;-5.05;-5.05;-5.05	4.3	4.3	0.51218	Ion transport (1);	0.115231	0.64402	D	0.000010	D	0.99369	0.9778	H	0.94222	3.51	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;1.0;0.999	D;D;D;D	0.87578	0.997;0.998;0.998;0.998	D	0.98543	1.0633	10	0.87932	D	0	.	16.7671	0.85527	0.0:1.0:0.0:0.0	.	1216;1251;1216;1251	Q9P0X4-3;Q9P0X4-2;Q9P0X4-4;Q9P0X4	.;.;.;CAC1I_HUMAN	F	1251;1216;1251;1216;1257;1216	ENSP00000385019:S1251F;ENSP00000384093:S1216F;ENSP00000383887:S1251F;ENSP00000385680:S1216F;ENSP00000337829:S1257F;ENSP00000383028:S1216F	ENSP00000337829:S1257F	S	+	2	0	CACNA1I	38390775	1.000000	0.71417	0.989000	0.46669	0.956000	0.61745	7.731000	0.84895	1.950000	0.56595	0.462000	0.41574	TCC	CACNA1I	-	pfam_Ion_trans_dom		0.657	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	CACNA1I	HGNC	protein_coding	OTTHUMT00000321290.1	C	NM_001003406		40060829	+1	no_errors	ENST00000336649	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC126	90693	genome.wustl.edu	37	7	23651037	23651037	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:23651037C>T	ENST00000307471.3	+	3	560	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	CCDC126_ENST00000410069.1_Nonsense_Mutation_p.Q35*|CCDC126_ENST00000486109.1_3'UTR|CCDC126_ENST00000409765.1_Nonsense_Mutation_p.Q35*	NM_138771.3	NP_620126.2	Q96EE4	CC126_HUMAN	coiled-coil domain containing 126	35					protein N-linked glycosylation (GO:0006487)	extracellular region (GO:0005576)|membrane (GO:0016020)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)			endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7						CTATACTTTTCAACAACCAAG	0.343																																																	0													128.0	115.0	120.0					7																	23651037		2203	4300	6503	SO:0001587	stop_gained	90693			BC012427	CCDS5384.1	7p15.3	2006-08-15			ENSG00000169193	ENSG00000169193			22398	protein-coding gene	gene with protein product						12477932	Standard	NM_138771		Approved	FLJ23031	uc003swl.3	Q96EE4	OTTHUMG00000128461	ENST00000307471.3:c.103C>T	7.37:g.23651037C>T	ENSP00000304355:p.Gln35*		A8K1J6|Q6UWP1|Q75MQ6	Nonsense_Mutation	SNP	NULL	p.Q35*	ENST00000307471.3	37	c.103	CCDS5384.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.819290	0.98507	.	.	ENSG00000169193	ENST00000307471;ENST00000409765;ENST00000448353;ENST00000410069	.	.	.	5.71	5.71	0.89125	.	0.115907	0.64402	D	0.000014	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-8.4197	19.8593	0.96777	0.0:1.0:0.0:0.0	.	.	.	.	X	35	.	ENSP00000304355:Q35X	Q	+	1	0	CCDC126	23617562	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.298000	0.78815	2.700000	0.92200	0.557000	0.71058	CAA	CCDC126	-	NULL		0.343	CCDC126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC126	HGNC	protein_coding	OTTHUMT00000250259.1	C	NM_138771		23651037	+1	no_errors	ENST00000307471	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CASD1	64921	genome.wustl.edu	37	7	94180766	94180766	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:94180766G>T	ENST00000297273.4	+	15	2219	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	644						integral component of membrane (GO:0016021)				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ATTTTCTGTTGTTTATTTCAG	0.279																																																	0													39.0	38.0	39.0					7																	94180766		2198	4285	6483	SO:0001583	missense	64921			AF355594	CCDS5636.1	7q22	2006-03-09			ENSG00000127995	ENSG00000127995			16014	protein-coding gene	gene with protein product	"""chromosome 7 open reading frame 12"""	611686				11703667, 11528394	Standard	NM_022900		Approved	FLJ21213, FLJ21879, C7orf12	uc003uni.4	Q96PB1	OTTHUMG00000023356	ENST00000297273.4:c.1932G>T	7.37:g.94180766G>T	ENSP00000297273:p.Leu644Phe		B3KW13|O14574|Q3LIE2|Q6P4R4|Q9H6T9|Q9H770	Missense_Mutation	SNP	pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like	p.L644F	ENST00000297273.4	37	c.1932	CCDS5636.1	7	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558530	0.45590	.	.	ENSG00000127995	ENST00000297273	T	0.53206	0.63	5.22	-2.77	0.05877	.	0.146519	0.41097	D	0.000943	T	0.48205	0.1487	L	0.43152	1.355	0.46927	D	0.999257	D;D	0.61080	0.989;0.989	P;P	0.62089	0.898;0.898	T	0.46857	-0.9161	10	0.56958	D	0.05	-21.6577	6.8618	0.24072	0.4191:0.2938:0.2872:0.0	.	644;644	Q8WZ77;Q96PB1	.;CASD1_HUMAN	F	644	ENSP00000297273:L644F	ENSP00000297273:L644F	L	+	3	2	CASD1	94018702	0.994000	0.37717	0.467000	0.27180	0.462000	0.32619	0.368000	0.20399	-0.345000	0.08325	-0.379000	0.06801	TTG	CASD1	-	NULL		0.279	CASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASD1	HGNC	protein_coding	OTTHUMT00000255216.1	G	NM_022900		94180766	+1	no_errors	ENST00000297273	ensembl	human	known	70_37	missense	SNP	0.972	T
CCNJL	79616	genome.wustl.edu	37	5	159680108	159680108	+	3'UTR	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:159680108G>A	ENST00000393977.3	-	0	1870				CCNJL_ENST00000257536.7_3'UTR|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like							nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGTCTTTCTCGATTCACTGGG	0.512																																																	0																																										SO:0001624	3_prime_UTR_variant	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.*277C>T	5.37:g.159680108G>A			Q6ZN43|Q9H7W8	RNA	SNP	-	NULL	ENST00000393977.3	37	NULL	CCDS4350.2	5																																																																																			CCNJL	-	-		0.512	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	G	NM_024565		159680108	-1	no_errors	ENST00000377503	ensembl	human	known	70_37	rna	SNP	0.000	A
CCNJL	79616	genome.wustl.edu	37	5	159680542	159680542	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:159680542G>A	ENST00000393977.3	-	7	1436	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	CCNJL_ENST00000257536.7_Missense_Mutation_p.P336L|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	384						nucleus (GO:0005634)				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGCTGCAGCGGTTGGTACGG	0.622																																																	0													75.0	82.0	80.0					5																	159680542		2128	4242	6370	SO:0001583	missense	79616			BC013353	CCDS4350.2	5q33.3	2008-10-31			ENSG00000135083	ENSG00000135083			25876	protein-coding gene	gene with protein product						12477932	Standard	XM_005265982		Approved	FLJ14166	uc003lyb.1	Q8IV13	OTTHUMG00000130325	ENST00000393977.3:c.1151C>T	5.37:g.159680542G>A	ENSP00000377547:p.Pro384Leu		Q6ZN43|Q9H7W8	Missense_Mutation	SNP	pfam_Cyclin_C,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.P384L	ENST00000393977.3	37	c.1151	CCDS4350.2	5	.	.	.	.	.	.	.	.	.	.	G	8.977	0.974321	0.18736	.	.	ENSG00000135083	ENST00000393977;ENST00000257536	T;T	0.31510	1.9;1.49	5.2	5.2	0.72013	.	0.825043	0.11051	N	0.605084	T	0.26521	0.0648	N	0.22421	0.69	0.80722	D	1	B;B	0.22800	0.012;0.075	B;B	0.17433	0.018;0.014	T	0.05954	-1.0854	10	0.62326	D	0.03	-2.6317	16.5031	0.84262	0.0:0.0:1.0:0.0	.	336;384	B4DZA8;Q8IV13	.;CCNJL_HUMAN	L	384;336	ENSP00000377547:P384L;ENSP00000257536:P336L	ENSP00000257536:P336L	P	-	2	0	CCNJL	159613120	1.000000	0.71417	0.179000	0.23059	0.008000	0.06430	6.164000	0.71885	2.421000	0.82119	0.655000	0.94253	CCG	CCNJL	-	NULL		0.622	CCNJL-001	KNOWN	basic|CCDS	protein_coding	CCNJL	HGNC	protein_coding	OTTHUMT00000252674.1	G	NM_024565		159680542	-1	no_errors	ENST00000393977	ensembl	human	known	70_37	missense	SNP	0.160	A
CD40LG	959	genome.wustl.edu	37	X	135732428	135732428	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:135732428G>C	ENST00000370629.2	+	2	216	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	CD40LG_ENST00000370628.2_Missense_Mutation_p.E54Q	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	54					B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|immunoglobulin secretion (GO:0048305)|inflammatory response (GO:0006954)|isotype switching (GO:0045190)|leukocyte cell-cell adhesion (GO:0007159)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of interleukin-12 production (GO:0032735)|regulation of immune response (GO:0050776)|regulation of immunoglobulin secretion (GO:0051023)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	CD40 receptor binding (GO:0005174)			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)					AAAATAGATAGAAGATGAAAG	0.358									Immune Deficiency with Hyper-IgM																																								0													114.0	118.0	117.0					X																	135732428		2203	4300	6503	SO:0001583	missense	959	Familial Cancer Database	Hypogammaglobulinemia with Hyper-IgM, HIGM type I-V, XLHIGM	X67878	CCDS14659.1	Xq26	2014-09-17	2008-08-01	2005-01-14	ENSG00000102245	ENSG00000102245		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11935	protein-coding gene	gene with protein product	"""CD40 antigen ligand"", ""tumor necrosis factor (ligand) superfamily member 5"", ""T-B cell-activating molecule"", ""TNF-related activation protein"", ""hyper-IgM syndrome"""	300386	"""tumor necrosis factor (ligand) superfamily, member 5 (hyper-IgM syndrome)"""	HIGM1, IMD3, TNFSF5		1427881, 7678782	Standard	NM_000074		Approved	CD40L, TRAP, gp39, hCD40L, CD154	uc004faa.3	P29965	OTTHUMG00000022512	ENST00000370629.2:c.160G>C	X.37:g.135732428G>C	ENSP00000359663:p.Glu54Gln			Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5	p.E54Q	ENST00000370629.2	37	c.160	CCDS14659.1	X	.	.	.	.	.	.	.	.	.	.	G	11.77	1.738738	0.30774	.	.	ENSG00000102245	ENST00000370629;ENST00000370628	T;T	0.77098	-1.07;-1.07	5.72	3.85	0.44370	.	0.571887	0.19435	N	0.114334	T	0.54271	0.1848	N	0.19112	0.55	0.36892	D	0.889941	P;P	0.42692	0.787;0.539	B;B	0.33121	0.158;0.135	T	0.57717	-0.7763	10	0.26408	T	0.33	-14.7392	5.7423	0.18100	0.1047:0.1937:0.7016:0.0	.	54;54	Q3L8U2;P29965	.;CD40L_HUMAN	Q	54	ENSP00000359663:E54Q;ENSP00000359662:E54Q	ENSP00000359662:E54Q	E	+	1	0	CD40LG	135560094	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	1.743000	0.38258	2.549000	0.85964	0.600000	0.82982	GAA	CD40LG	-	pirsf_TNF_ligand_5,prints_TNF_ligand_5		0.358	CD40LG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD40LG	HGNC	protein_coding	OTTHUMT00000058501.1	G	NM_000074		135732428	+1	no_errors	ENST00000370629	ensembl	human	known	70_37	missense	SNP	1.000	C
CD55	1604	genome.wustl.edu	37	1	207510124	207510124	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:207510124C>G	ENST00000367064.3	+	7	1198	c.940C>G	c.(940-942)Cag>Gag	p.Q314E	CD55_ENST00000391921.4_Missense_Mutation_p.Q250E|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.Q314E|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000314754.8_Missense_Mutation_p.Q314E|CD55_ENST00000391920.4_Missense_Mutation_p.Q314E|CD55_ENST00000367063.2_Missense_Mutation_p.Q314E|CD55_ENST00000367062.4_Missense_Mutation_p.Q314E	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	314	Ser/Thr-rich.				CD4-positive, alpha-beta T cell cytokine production (GO:0035743)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|maternal process involved in parturition (GO:0060137)|negative regulation of complement activation (GO:0045916)|positive regulation of CD4-positive, alpha-beta T cell activation (GO:2000516)|positive regulation of CD4-positive, alpha-beta T cell proliferation (GO:2000563)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of complement activation (GO:0030449)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|respiratory burst (GO:0045730)|response to peptide hormone (GO:0043434)|response to virus (GO:0009615)|spermatogenesis (GO:0007283)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	enzyme inhibitor activity (GO:0004857)|lipid binding (GO:0008289)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	ACCAACTTCTCAGAAAACCAC	0.413																																																	0													193.0	179.0	184.0					1																	207510124		2203	4300	6503	SO:0001583	missense	1604			BC001288	CCDS31006.1, CCDS44307.1, CCDS73022.1	1q32	2014-09-17	2006-03-28	2006-02-23	ENSG00000196352	ENSG00000196352		"""CD molecules"", ""Blood group antigens"""	2665	protein-coding gene	gene with protein product		125240	"""decay accelerating factor for complement (CD55, Cromer blood group system)"""	DAF			Standard	XM_005273077		Approved	CR, TC, CROM	uc001hfr.4	P08174	OTTHUMG00000036255	ENST00000367064.3:c.940C>G	1.37:g.207510124C>G	ENSP00000356031:p.Gln314Glu		B1AP14|D3DT83|D3DT84|E7ER69|P09679|P78361|Q14UF2|Q14UF3|Q14UF4|Q14UF5|Q14UF6	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.Q314E	ENST00000367064.3	37	c.940	CCDS31006.1	1	.	.	.	.	.	.	.	.	.	.	C	14.32	2.501123	0.44455	.	.	ENSG00000196352	ENST00000367064;ENST00000367063;ENST00000391921;ENST00000536840;ENST00000314754;ENST00000367065;ENST00000391920;ENST00000367062	T;T;T;T;T;T;T	0.35421	1.36;1.56;1.71;1.48;1.45;1.31;1.34	3.81	3.81	0.43845	.	0.382629	0.21299	N	0.076828	T	0.45577	0.1349	L	0.55990	1.75	0.80722	D	1	D;D;D;B;D;B	0.67145	0.996;0.996;0.996;0.063;0.996;0.13	P;P;P;B;P;B	0.60473	0.875;0.836;0.836;0.011;0.836;0.033	T	0.17137	-1.0379	10	0.13470	T	0.59	.	11.4997	0.50430	0.0:1.0:0.0:0.0	.	314;250;314;314;314;314	Q14UF6;B1AP15;Q14UF4;P08174-2;P08174;B1AP13	.;.;.;.;DAF_HUMAN;.	E	314;314;250;250;314;314;314;314	ENSP00000356031:Q314E;ENSP00000356030:Q314E;ENSP00000375788:Q250E;ENSP00000316333:Q314E;ENSP00000356032:Q314E;ENSP00000375787:Q314E;ENSP00000356029:Q314E	ENSP00000316333:Q314E	Q	+	1	0	CD55	205576747	0.992000	0.36948	0.461000	0.27105	0.051000	0.14879	-0.345000	0.07770	2.429000	0.82318	0.462000	0.41574	CAG	CD55	-	NULL		0.413	CD55-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD55	HGNC	protein_coding	OTTHUMT00000088208.2	C	NM_000574		207510124	+1	no_errors	ENST00000314754	ensembl	human	known	70_37	missense	SNP	0.656	G
CDHR5	53841	genome.wustl.edu	37	11	617419	617419	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:617419C>G	ENST00000358353.3	-	16	2792	c.2470G>C	c.(2470-2472)Gag>Cag	p.E824Q	IRF7_ENST00000330243.5_5'Flank|IRF7_ENST00000397570.1_5'Flank|IRF7_ENST00000525445.1_5'Flank|IRF7_ENST00000397562.3_5'Flank|CDHR5_ENST00000397542.2_Missense_Mutation_p.E824Q|IRF7_ENST00000397566.1_5'Flank|CDHR5_ENST00000349570.7_Missense_Mutation_p.E630Q|IRF7_ENST00000397574.2_5'Flank|IRF7_ENST00000348655.6_5'Flank			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	824					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CCCTCGCCCTCATCGCCGCTG	0.687																																																	0													30.0	27.0	28.0					11																	617419		2198	4298	6496	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.2470G>C	11.37:g.617419C>G	ENSP00000351118:p.Glu824Gln		C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.E824Q	ENST00000358353.3	37	c.2470	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	C	10.50	1.368952	0.24771	.	.	ENSG00000099834	ENST00000397542;ENST00000358353;ENST00000349570	T;T;T	0.51817	0.71;0.71;0.69	3.42	2.47	0.30058	.	.	.	.	.	T	0.36552	0.0971	L	0.44542	1.39	0.09310	N	1	B;B;B	0.28128	0.201;0.042;0.201	B;B;B	0.23275	0.045;0.019;0.045	T	0.23190	-1.0195	9	0.46703	T	0.11	-15.2099	7.6685	0.28445	0.0:0.8671:0.0:0.1329	.	818;630;824	Q9HBB8-4;Q9HBB8-2;Q9HBB8	.;.;CDHR5_HUMAN	Q	824;824;630	ENSP00000380676:E824Q;ENSP00000351118:E824Q;ENSP00000345726:E630Q	ENSP00000345726:E630Q	E	-	1	0	CDHR5	607419	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.097000	0.11042	0.699000	0.31761	0.506000	0.49869	GAG	CDHR5	-	NULL		0.687	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	C	NM_021924		617419	-1	no_errors	ENST00000358353	ensembl	human	known	70_37	missense	SNP	0.001	G
CDCA5	113130	genome.wustl.edu	37	11	64846883	64846883	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:64846883C>A	ENST00000275517.3	-	5	792	c.620G>T	c.(619-621)gGa>gTa	p.G207V	CDCA5_ENST00000404147.3_Missense_Mutation_p.G207V	NM_080668.3	NP_542399.1	Q96FF9	CDCA5_HUMAN	cell division cycle associated 5	207					double-strand break repair (GO:0006302)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid cohesion (GO:0007064)|regulation of cohesin localization to chromatin (GO:0071922)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			large_intestine(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGGGGAGATTCCAGGGAGAGT	0.562																																																	0													79.0	88.0	85.0					11																	64846883		2201	4297	6498	SO:0001583	missense	113130			BG354578	CCDS8091.1	11q13.1	2011-01-31			ENSG00000146670	ENSG00000146670			14626	protein-coding gene	gene with protein product	"""sororin"""	609374				12188893, 15837422	Standard	NM_080668		Approved		uc001ocp.2	Q96FF9	OTTHUMG00000150420	ENST00000275517.3:c.620G>T	11.37:g.64846883C>A	ENSP00000275517:p.Gly207Val		A8K625	Missense_Mutation	SNP	pfam_Sororin	p.G207V	ENST00000275517.3	37	c.620	CCDS8091.1	11	.	.	.	.	.	.	.	.	.	.	C	23.0	4.364154	0.82353	.	.	ENSG00000146670	ENST00000525464;ENST00000275517;ENST00000404147	T;T	0.51325	0.71;0.71	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.68842	0.3045	M	0.72118	2.19	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.71659	-0.4526	10	0.87932	D	0	.	16.9804	0.86326	0.0:1.0:0.0:0.0	.	207	Q96FF9	CDCA5_HUMAN	V	2;207;207	ENSP00000275517:G207V;ENSP00000385711:G207V	ENSP00000275517:G207V	G	-	2	0	CDCA5	64603459	0.992000	0.36948	0.907000	0.35723	0.860000	0.49131	4.297000	0.59061	2.595000	0.87683	0.644000	0.83932	GGA	CDCA5	-	pfam_Sororin		0.562	CDCA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDCA5	HGNC	protein_coding	OTTHUMT00000385186.1	C	NM_080668		64846883	-1	no_errors	ENST00000275517	ensembl	human	known	70_37	missense	SNP	0.987	A
CEACAM21	90273	genome.wustl.edu	37	19	42092925	42092925	+	IGR	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:42092925G>A	ENST00000401445.2	+	0	1008				CEACAM21_ENST00000407170.2_3'UTR|CEACAM21_ENST00000482870.2_3'UTR|CEACAM21_ENST00000187608.9_3'UTR			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21							integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GAGCGTCCCTGAAGCCCCCAG	0.582																																																	0																																										SO:0001628	intergenic_variant	90273			AK023602	CCDS46086.1, CCDS46087.1, CCDS74373.1	19q13.2	2013-01-29			ENSG00000007129	ENSG00000007129		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28834	protein-coding gene	gene with protein product						12477932	Standard	XM_005278397		Approved	R29124_1, FLJ13540	uc002ore.4	Q3KPI0	OTTHUMG00000151062		19.37:g.42092925G>A			B7WNQ6|O75296|Q6UY47|Q96ER7	RNA	SNP	-	NULL	ENST00000401445.2	37	NULL	CCDS46086.1	19																																																																																			CEACAM21	-	-		0.582	CEACAM21-005	KNOWN	non_canonical_polymorphism|basic|appris_candidate_longest|CCDS	protein_coding	CEACAM21	HGNC	protein_coding	OTTHUMT00000321140.1	G	NM_033543		42092925	+1	no_errors	ENST00000482870	ensembl	human	known	70_37	rna	SNP	0.000	A
CELF6	60677	genome.wustl.edu	37	15	72580886	72580886	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:72580886C>G	ENST00000569547.1	-	10	1238	c.1167G>C	c.(1165-1167)caG>caC	p.Q389H	CELF6_ENST00000543764.2_Missense_Mutation_p.Q252H|CELF6_ENST00000567083.1_Intron|CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000539635.1_Missense_Mutation_p.Q250H|RP11-106M3.2_ENST00000379915.4_RNA|CELF6_ENST00000395258.2_Missense_Mutation_p.Q276H|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Missense_Mutation_p.Q389H			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	389					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						CACCTTCTCTCTGCTGCTGGG	0.632																																																	0													57.0	60.0	59.0					15																	72580886		2199	4297	6496	SO:0001583	missense	60677			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1167G>C	15.37:g.72580886C>G	ENSP00000454749:p.Gln389His		B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q389H	ENST00000569547.1	37	c.1167	CCDS10242.1	15	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746966	0.30955	.	.	ENSG00000140488	ENST00000287202;ENST00000543764;ENST00000395258;ENST00000539635	T;T;T;T	0.65178	-0.14;2.12;-0.14;-0.14	5.61	2.1	0.27182	.	0.199618	0.33161	U	0.005210	T	0.77011	0.4068	M	0.83312	2.635	0.43021	D	0.99457	P;B;B;P	0.50819	0.939;0.092;0.187;0.939	D;B;B;D	0.68943	0.961;0.09;0.247;0.961	T	0.76130	-0.3072	10	0.62326	D	0.03	-6.0108	9.9825	0.41821	0.0:0.7835:0.0:0.2165	.	252;276;250;389	B4DG28;Q96J87-2;B3KWE6;Q96J87	.;.;.;CELF6_HUMAN	H	389;252;276;250	ENSP00000287202:Q389H;ENSP00000439956:Q252H;ENSP00000378677:Q276H;ENSP00000443162:Q250H	ENSP00000287202:Q389H	Q	-	3	2	CELF6	70367940	0.901000	0.30685	1.000000	0.80357	0.989000	0.77384	-0.001000	0.12947	0.130000	0.18549	-0.312000	0.09012	CAG	CELF6	-	NULL		0.632	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	HGNC	protein_coding	OTTHUMT00000420180.1	C	NM_052840		72580886	-1	no_errors	ENST00000569547	ensembl	human	known	70_37	missense	SNP	1.000	G
CGN	57530	genome.wustl.edu	37	1	151498167	151498167	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:151498167G>A	ENST00000271636.7	+	9	1797	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	SNORA44_ENST00000517031.1_RNA	NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	549	Glu-rich.				transforming growth factor beta receptor signaling pathway (GO:0007179)	cell junction (GO:0030054)|myosin complex (GO:0016459)|tight junction (GO:0005923)	actin binding (GO:0003779)|motor activity (GO:0003774)			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCCCTTGTGCGAGGGCTGCAG	0.567																																																	0													79.0	67.0	71.0					1																	151498167		2203	4300	6503	SO:0001583	missense	57530			AB037740	CCDS999.1	1q21	2008-02-05			ENSG00000143375	ENSG00000143375			17429	protein-coding gene	gene with protein product		609473				11042084, 12529927	Standard	NM_020770		Approved	KIAA1319	uc009wmw.3	Q9P2M7	OTTHUMG00000012497	ENST00000271636.7:c.1664G>A	1.37:g.151498167G>A	ENSP00000271636:p.Arg555Gln		A6H8L3|A7MD22|Q5T386|Q9NR25	Missense_Mutation	SNP	pfam_Myosin_tail	p.R555Q	ENST00000271636.7	37	c.1664	CCDS999.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097875	0.76870	.	.	ENSG00000143375	ENST00000271636	T	0.65549	-0.16	4.35	3.41	0.39046	.	0.122200	0.53938	D	0.000043	T	0.67951	0.2948	M	0.72118	2.19	0.41939	D	0.990609	D	0.89917	1.0	D	0.79108	0.992	T	0.68731	-0.5331	10	0.37606	T	0.19	-13.0687	12.4916	0.55903	0.0:0.0:0.8314:0.1686	.	549	Q9P2M7	CING_HUMAN	Q	555	ENSP00000271636:R555Q	ENSP00000271636:R555Q	R	+	2	0	CGN	149764791	1.000000	0.71417	0.905000	0.35620	0.922000	0.55478	5.810000	0.69179	1.134000	0.42165	0.655000	0.94253	CGA	CGN	-	NULL		0.567	CGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CGN	HGNC	protein_coding	OTTHUMT00000034900.3	G	NM_020770		151498167	+1	no_errors	ENST00000271636	ensembl	human	known	70_37	missense	SNP	0.980	A
CEP170	9859	genome.wustl.edu	37	1	243349710	243349710	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:243349710C>T	ENST00000366542.1	-	9	1174	c.1123G>A	c.(1123-1125)Gat>Aat	p.D375N	CEP170_ENST00000366543.1_Missense_Mutation_p.D375N|CEP170_ENST00000366544.1_Missense_Mutation_p.D375N	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	375						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TGCGTACCATCATCATGTTTA	0.398																																																	0													75.0	69.0	71.0					1																	243349710		1895	4120	6015	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.1123G>A	1.37:g.243349710C>T	ENSP00000355500:p.Asp375Asn		O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.D375N	ENST00000366542.1	37	c.1123	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.837568|4.837568	0.91117|0.91117	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000424081|ENST00000336415	T;T;T|.	0.62788|.	-0.0;0.09;0.09|.	5.3|5.3	5.3|5.3	0.74995|0.74995	.|.	0.048724|.	0.85682|.	D|.	0.000000|.	T|T	0.72581|0.72581	0.3478|0.3478	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;0.983;1.0|.	D;D;D|.	0.91635|.	0.999;0.936;0.998|.	T|T	0.70092|0.70092	-0.4967|-0.4967	10|5	0.66056|.	D|.	0.02|.	-15.4813|-15.4813	18.9535|18.9535	0.92649|0.92649	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	375;375;375|.	Q5SW79-3;Q5SW79-2;Q5SW79|.	.;.;CE170_HUMAN|.	N|I	375;375;375;273|276	ENSP00000355500:D375N;ENSP00000355502:D375N;ENSP00000355501:D375N|.	ENSP00000355500:D375N|.	D|M	-|-	1|3	0|0	CEP170|CEP170	241416333|241416333	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.487000|7.487000	0.81328|0.81328	2.468000|2.468000	0.83385|0.83385	0.585000|0.585000	0.79938|0.79938	GAT|ATG	CEP170	-	NULL		0.398	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	C	NM_014812		243349710	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	1.000	T
CIT	11113	genome.wustl.edu	37	12	120159185	120159185	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:120159185C>T	ENST00000261833.7	-	28	3587	c.3535G>A	c.(3535-3537)Gaa>Aaa	p.E1179K	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.E1221K	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1179	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TCTAGAGCTTCTTGCAGTCCT	0.478																																																	0													168.0	147.0	154.0					12																	120159185		2203	4300	6503	SO:0001583	missense	11113			AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3535G>A	12.37:g.120159185C>T	ENSP00000261833:p.Glu1179Lys		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.E1179K	ENST00000261833.7	37	c.3535	CCDS9192.1	12	.	.	.	.	.	.	.	.	.	.	C	18.33	3.600599	0.66332	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.66995	-0.22;-0.24	5.91	5.91	0.95273	.	0.112119	0.64402	D	0.000014	T	0.63248	0.2495	L	0.34521	1.04	0.80722	D	1	P;P;P	0.46395	0.877;0.877;0.589	B;B;B	0.43194	0.411;0.411;0.114	T	0.66360	-0.5943	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:1.0:0.0:0.0	.	1221;1179;712	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	K	1221;1179	ENSP00000376306:E1221K;ENSP00000261833:E1179K	ENSP00000261833:E1179K	E	-	1	0	CIT	118643568	1.000000	0.71417	0.984000	0.44739	0.997000	0.91878	7.818000	0.86416	2.793000	0.96121	0.655000	0.94253	GAA	CIT	-	pirsf_Citron_Rho-interacting_kinase		0.478	CIT-001	KNOWN	basic|CCDS	protein_coding	CIT	HGNC	protein_coding	OTTHUMT00000259410.4	C	NM_007174		120159185	-1	no_errors	ENST00000261833	ensembl	human	known	70_37	missense	SNP	1.000	T
CIZ1	25792	genome.wustl.edu	37	9	130932385	130932385	+	Splice_Site	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:130932385C>T	ENST00000393608.1	-	12	2147	c.1945G>A	c.(1945-1947)Gag>Aag	p.E649K	CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000325721.8_Splice_Site_p.E620K|CIZ1_ENST00000538431.1_Splice_Site_p.E649K|CIZ1_ENST00000277465.4_Splice_Site_p.E621K|CIZ1_ENST00000357558.5_Splice_Site_p.E621K|CIZ1_ENST00000372948.3_Splice_Site_p.E593K|CIZ1_ENST00000372938.5_Splice_Site_p.E649K|CIZ1_ENST00000372954.1_Splice_Site_p.E569K|CIZ1_ENST00000541172.1_Splice_Site_p.E548K	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	649					maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						GGTGGAGGCTCCCTGAATGAC	0.547																																																	0													146.0	110.0	122.0					9																	130932385		2203	4300	6503	SO:0001630	splice_region_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.1944-1G>A	9.37:g.130932385C>T			A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin	p.E649K	ENST00000393608.1	37	c.1945	CCDS6894.1	9	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563039	0.65538	.	.	ENSG00000148337	ENST00000372954;ENST00000393608;ENST00000538431;ENST00000357558;ENST00000325721;ENST00000537314;ENST00000541172;ENST00000277465;ENST00000372948;ENST00000372938;ENST00000415526	T;T;T;T;T;T;T;T;T;T	0.35421	1.31;1.48;1.42;1.63;1.47;1.89;1.63;1.31;1.48;2.06	5.81	5.81	0.92471	.	0.285709	0.25416	N	0.030838	T	0.32645	0.0836	N	0.08118	0	0.33112	D	0.540692	D;P;P;D;P;D;P	0.62365	0.991;0.937;0.545;0.978;0.934;0.977;0.893	P;P;B;P;P;P;P	0.57846	0.828;0.48;0.21;0.796;0.53;0.721;0.48	T	0.32693	-0.9897	10	0.23891	T	0.37	-18.3672	13.298	0.60309	0.0:0.9281:0.0:0.0719	.	649;588;593;569;649;620;621	B7Z3U7;B4E0A3;Q9ULV3-4;Q9ULV3-3;Q9ULV3;Q9ULV3-2;Q5SYW2	.;.;.;.;CIZ1_HUMAN;.;.	K	569;649;649;621;620;588;548;621;593;649;571	ENSP00000362045:E569K;ENSP00000377232:E649K;ENSP00000439244:E649K;ENSP00000350169:E621K;ENSP00000320374:E620K;ENSP00000445057:E548K;ENSP00000277465:E621K;ENSP00000362039:E593K;ENSP00000362029:E649K;ENSP00000398011:E571K	ENSP00000277465:E621K	E	-	1	0	CIZ1	129972206	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	3.775000	0.55349	2.746000	0.94184	0.655000	0.94253	GAG	CIZ1	-	NULL		0.547	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	C	NM_012127	Missense_Mutation	130932385	-1	no_errors	ENST00000538431	ensembl	human	known	70_37	missense	SNP	1.000	T
CLNK	116449	genome.wustl.edu	37	4	10509620	10509620	+	Missense_Mutation	SNP	C	C	T	rs553669861		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:10509620C>T	ENST00000226951.6	-	17	1186	c.947G>A	c.(946-948)cGc>cAc	p.R316H	CLNK_ENST00000515667.1_Missense_Mutation_p.R54H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	316	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						CACTGCCTGGCGGCTGTATTC	0.403																																					GBM(87;402 1286 6949 13902 35851)												0													100.0	92.0	95.0					4																	10509620		1936	4145	6081	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.947G>A	4.37:g.10509620C>T	ENSP00000226951:p.Arg316His		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.R316H	ENST00000226951.6	37	c.947	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	16.29	3.083026	0.55861	.	.	ENSG00000109684	ENST00000226951;ENST00000515667;ENST00000429087	D;D	0.93019	-3.15;-3.15	5.33	5.33	0.75918	SH2 motif (5);	0.079828	0.49916	D	0.000128	D	0.97832	0.9288	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98737	1.0715	10	0.87932	D	0	-21.3775	14.9056	0.70715	0.0:1.0:0.0:0.0	.	316	Q7Z7G1	CLNK_HUMAN	H	316;54;280	ENSP00000226951:R316H;ENSP00000427256:R54H	ENSP00000226951:R316H	R	-	2	0	CLNK	10118718	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	3.835000	0.55805	2.653000	0.90120	0.561000	0.74099	CGC	CLNK	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.403	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	C	NM_052964		10509620	-1	no_errors	ENST00000226951	ensembl	human	known	70_37	missense	SNP	1.000	T
CLNK	116449	genome.wustl.edu	37	4	10542129	10542129	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:10542129C>G	ENST00000226951.6	-	11	830	c.591G>C	c.(589-591)caG>caC	p.Q197H	CLNK_ENST00000507719.1_Missense_Mutation_p.Q155H|CLNK_ENST00000442825.2_Missense_Mutation_p.Q155H	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	197					immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|positive regulation of signal transduction (GO:0009967)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	intracellular (GO:0005622)	SH3/SH2 adaptor activity (GO:0005070)			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGGCATTCTCTGGACTTCTG	0.522																																					GBM(87;402 1286 6949 13902 35851)												0													79.0	80.0	80.0					4																	10542129		1990	4165	6155	SO:0001583	missense	116449			AB032369	CCDS47024.1	4p16.1	2013-02-14			ENSG00000109684	ENSG00000109684		"""SH2 domain containing"""	17438	protein-coding gene	gene with protein product	"""mast cell immunoreceptor signal transducer"""	611434				10562326, 10744659	Standard	NM_052964		Approved	MIST	uc003gmo.4	Q7Z7G1	OTTHUMG00000160062	ENST00000226951.6:c.591G>C	4.37:g.10542129C>G	ENSP00000226951:p.Gln197His		Q05C27|Q9P2U9	Missense_Mutation	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.Q197H	ENST00000226951.6	37	c.591	CCDS47024.1	4	.	.	.	.	.	.	.	.	.	.	C	14.22	2.470383	0.43942	.	.	ENSG00000109684	ENST00000226951;ENST00000429087;ENST00000442825;ENST00000507719	T;T;T	0.47177	1.83;0.85;0.85	5.68	-3.8	0.04307	.	1.263120	0.05653	N	0.585613	T	0.45518	0.1346	L	0.32530	0.975	0.09310	N	1	B;D	0.62365	0.009;0.991	B;P	0.54270	0.01;0.747	T	0.50154	-0.8861	10	0.45353	T	0.12	0.0136	7.7867	0.29095	0.0:0.2045:0.4896:0.3059	.	155;197	Q7Z7G1-2;Q7Z7G1	.;CLNK_HUMAN	H	197;161;155;155	ENSP00000226951:Q197H;ENSP00000390744:Q155H;ENSP00000427208:Q155H	ENSP00000226951:Q197H	Q	-	3	2	CLNK	10151227	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.135000	0.10420	-0.459000	0.07013	-0.878000	0.02970	CAG	CLNK	-	NULL		0.522	CLNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLNK	HGNC	protein_coding	OTTHUMT00000359047.1	C	NM_052964		10542129	-1	no_errors	ENST00000226951	ensembl	human	known	70_37	missense	SNP	0.000	G
CLPB	81570	genome.wustl.edu	37	11	72070032	72070032	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:72070032C>A	ENST00000294053.3	-	6	930	c.757G>T	c.(757-759)Gac>Tac	p.D253Y	CLPB_ENST00000437826.2_Missense_Mutation_p.D208Y|CLPB_ENST00000445069.2_Missense_Mutation_p.D149Y|CLPB_ENST00000543042.1_Missense_Mutation_p.D52Y|RP11-45F15.2_ENST00000537727.1_RNA|CLPB_ENST00000538039.1_Missense_Mutation_p.D223Y|CLPB_ENST00000340729.5_Missense_Mutation_p.D194Y	NM_001258394.1|NM_030813.4	NP_001245323.1|NP_110440.1	Q9H078	CLPB_HUMAN	ClpB caseinolytic peptidase B homolog (E. coli)	253					cellular response to heat (GO:0034605)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TTGTTGAAGTCATCCTCTCGG	0.522																																																	0													210.0	158.0	175.0					11																	72070032		2200	4293	6493	SO:0001583	missense	81570			BC006404	CCDS8215.1, CCDS58152.1, CCDS58153.1, CCDS58154.1	11q13.4	2013-01-10			ENSG00000162129	ENSG00000162129		"""Ankyrin repeat domain containing"""	30664	protein-coding gene	gene with protein product	"""suppressor of potassium transport defect 3"""					11230166, 7835694	Standard	NM_030813		Approved	HSP78, SKD3, FLJ13152	uc010rqy.3	Q9H078	OTTHUMG00000167902	ENST00000294053.3:c.757G>T	11.37:g.72070032C>A	ENSP00000294053:p.Asp253Tyr		B4DXJ7|B4DXP7|E7EWN6|F8W7P6|Q8ND11|Q9H8Y0	Missense_Mutation	SNP	pfam_ATPase_AAA-2,pfam_Ankyrin_rpt,pfam_Clp_ATPase_C,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,pfam_Zeta_toxin_domain,pfam_Sigma_54_int,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_AAA+_ATPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Chaprnin_ClpA/B	p.D253Y	ENST00000294053.3	37	c.757	CCDS8215.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.33|15.33	2.801156|2.801156	0.50315|0.50315	.|.	.|.	ENSG00000162129|ENSG00000162129	ENST00000294053;ENST00000538039;ENST00000535990;ENST00000340729;ENST00000437826;ENST00000543042;ENST00000544683;ENST00000539148|ENST00000544382	T;T;T;T;T;T;T;T|.	0.71461|.	1.75;-0.4;1.9;0.95;2.16;-0.57;-0.4;2.88|.	4.66|4.66	4.66|4.66	0.58398|0.58398	Ankyrin repeat-containing domain (2);|.	0.066962|.	0.64402|.	D|.	0.000016|.	T|T	0.68421|0.68421	0.2999|0.2999	L|L	0.54863|0.54863	1.705|1.705	0.45979|0.45979	D|D	0.998794|0.998794	B;B;B;B;P|.	0.41232|.	0.023;0.079;0.238;0.2;0.743|.	B;B;B;B;B|.	0.37387|.	0.014;0.077;0.125;0.077;0.248|.	T|T	0.66650|0.66650	-0.5870|-0.5870	10|5	0.62326|.	D|.	0.03|.	-22.4057|-22.4057	15.0896|15.0896	0.72183|0.72183	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	52;194;208;223;253|.	B4DXW4;F8W7P6;E7EWN6;Q9H078-2;Q9H078|.	.;.;.;.;CLPB_HUMAN|.	Y|I	253;223;258;194;208;52;77;107|30	ENSP00000294053:D253Y;ENSP00000441518:D223Y;ENSP00000443822:D258Y;ENSP00000340385:D194Y;ENSP00000407296:D208Y;ENSP00000439746:D52Y;ENSP00000442651:D77Y;ENSP00000445327:D107Y|.	ENSP00000294053:D253Y|.	D|M	-|-	1|3	0|0	CLPB|CLPB	71747680|71747680	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	6.264000|6.264000	0.72527|0.72527	2.427000|2.427000	0.82271|0.82271	0.637000|0.637000	0.83480|0.83480	GAC|ATG	CLPB	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.522	CLPB-001	KNOWN	basic|CCDS	protein_coding	CLPB	HGNC	protein_coding	OTTHUMT00000396889.1	C	NM_030813		72070032	-1	no_errors	ENST00000294053	ensembl	human	known	70_37	missense	SNP	1.000	A
CLVS2	134829	genome.wustl.edu	37	6	123377039	123377039	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:123377039C>A	ENST00000275162.5	+	5	2099	c.764C>A	c.(763-765)cCt>cAt	p.P255H	CLVS2_ENST00000368438.1_Missense_Mutation_p.P109H	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2	255	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						ATGCTGCCTCCTTATGACATG	0.443																																																	0													170.0	141.0	151.0					6																	123377039		2203	4300	6503	SO:0001583	missense	134829			AK095527	CCDS34525.1	6q22.31	2009-10-14	2009-10-14	2009-10-14	ENSG00000146352	ENSG00000146352			23046	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 212"", ""chromosome 6 open reading frame 213"", ""retinaldehyde binding protein 1-like 2"""	C6orf212, C6orf213, RLBP1L2		19651769	Standard	NM_001010852		Approved	bA160A10.4	uc003pzi.1	Q5SYC1	OTTHUMG00000015495	ENST00000275162.5:c.764C>A	6.37:g.123377039C>A	ENSP00000275162:p.Pro255His		B3KTG5|B4DHL0|C8UZT4|Q5SYC0	Missense_Mutation	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran	p.P255H	ENST00000275162.5	37	c.764	CCDS34525.1	6	.	.	.	.	.	.	.	.	.	.	C	29.5	5.009226	0.93346	.	.	ENSG00000146352	ENST00000275162;ENST00000368438	D;D	0.84442	-1.85;-1.85	5.91	5.91	0.95273	Cellular retinaldehyde-binding/triple function, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89518	0.6738	M	0.65498	2.005	0.80722	D	1	D	0.76494	0.999	P	0.59825	0.864	D	0.88380	0.3001	10	0.51188	T	0.08	-11.2938	20.2983	0.98569	0.0:1.0:0.0:0.0	.	255	Q5SYC1	CLVS2_HUMAN	H	255;109	ENSP00000275162:P255H;ENSP00000357423:P109H	ENSP00000275162:P255H	P	+	2	0	CLVS2	123418738	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	7.487000	0.81328	2.802000	0.96397	0.655000	0.94253	CCT	CLVS2	-	superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.443	CLVS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLVS2	HGNC	protein_coding	OTTHUMT00000042042.2	C	NM_001010852		123377039	+1	no_errors	ENST00000275162	ensembl	human	known	70_37	missense	SNP	1.000	A
CNNM4	26504	genome.wustl.edu	37	2	97427598	97427598	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:97427598C>T	ENST00000377075.2	+	1	960	c.862C>T	c.(862-864)Cag>Tag	p.Q288*		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin and CBS domain divalent metal cation transport mediator 4	288	DUF21.				biomineral tissue development (GO:0031214)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						GATCCTACCTCAGGCCCTGTG	0.557																																																	0													126.0	124.0	125.0					2																	97427598		2203	4300	6503	SO:0001587	stop_gained	26504			AB046812	CCDS2024.2	2q11.2	2014-08-08	2014-08-07		ENSG00000158158	ENSG00000158158			105	protein-coding gene	gene with protein product		607805	"""cyclin M4"""	ACDP4		21393841, 24194943	Standard	XM_005263914		Approved	KIAA1592	uc002swx.3	Q6P4Q7	OTTHUMG00000130532	ENST00000377075.2:c.862C>T	2.37:g.97427598C>T	ENSP00000366275:p.Gln288*		B7Z1U0|C7SQM3|C7SQM4|C7SQM5|Q53RE5|Q9H9G3|Q9HCI0|Q9NRN1	Nonsense_Mutation	SNP	pfam_DUF21,pfam_Cysta_beta_synth_core,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.Q288*	ENST00000377075.2	37	c.862	CCDS2024.2	2	.	.	.	.	.	.	.	.	.	.	C	38	6.693071	0.97768	.	.	ENSG00000158158	ENST00000377075	.	.	.	5.03	5.03	0.67393	.	0.064958	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-12.872	17.1425	0.86757	0.0:1.0:0.0:0.0	.	.	.	.	X	288	.	ENSP00000366275:Q288X	Q	+	1	0	CNNM4	96791325	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.783000	0.85696	2.330000	0.79161	0.655000	0.94253	CAG	CNNM4	-	pfam_DUF21		0.557	CNNM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNNM4	HGNC	protein_coding	OTTHUMT00000252954.1	C	NM_020184		97427598	+1	no_errors	ENST00000377075	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COG5	10466	genome.wustl.edu	37	7	107013082	107013082	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:107013082C>T	ENST00000347053.3	-	8	936	c.886G>A	c.(886-888)Gac>Aac	p.D296N	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000393603.2_Missense_Mutation_p.D296N|COG5_ENST00000297135.3_Missense_Mutation_p.D296N	NM_181733.2	NP_859422.2	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	296					intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ACTTTTATGTCTAATGCACTG	0.338																																																	0													128.0	126.0	127.0					7																	107013082		2203	4300	6503	SO:0001583	missense	10466			AF058718	CCDS5742.1, CCDS5743.1, CCDS55152.1	7q31	2010-06-24	2001-12-07	2002-05-10	ENSG00000164597	ENSG00000164597		"""Components of oligomeric golgi complex"""	14857	protein-coding gene	gene with protein product		606821	"""golgi transport complex 1 (90 kDa subunit)"""	GOLTC1		9792665, 11980916	Standard	NM_006348		Approved	GTC90	uc003vec.2	Q9UP83	OTTHUMG00000023895	ENST00000347053.3:c.886G>A	7.37:g.107013082C>T	ENSP00000334703:p.Asp296Asn		A4D0R6|A4D0R7|O14555|O95008|Q6NUL5	Missense_Mutation	SNP	pfam_COG_su5,pfam_Vps51	p.D296N	ENST00000347053.3	37	c.886	CCDS5743.1	7	.	.	.	.	.	.	.	.	.	.	C	22.2	4.257303	0.80246	.	.	ENSG00000164597	ENST00000347053;ENST00000297135;ENST00000393603	T;T;T	0.30714	1.52;1.52;1.52	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.55353	0.1915	M	0.70595	2.14	0.80722	D	1	D;D	0.76494	0.999;0.981	D;P	0.64144	0.922;0.799	T	0.55003	-0.8208	10	0.54805	T	0.06	-5.8799	19.7109	0.96095	0.0:1.0:0.0:0.0	.	296;296	Q9UP83;Q9UP83-2	COG5_HUMAN;.	N	296	ENSP00000334703:D296N;ENSP00000297135:D296N;ENSP00000377228:D296N	ENSP00000297135:D296N	D	-	1	0	COG5	106800318	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.968000	0.76086	2.703000	0.92315	0.650000	0.86243	GAC	COG5	-	NULL		0.338	COG5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COG5	HGNC	protein_coding	OTTHUMT00000060216.4	C			107013082	-1	no_errors	ENST00000297135	ensembl	human	known	70_37	missense	SNP	1.000	T
COL15A1	1306	genome.wustl.edu	37	9	101747953	101747953	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:101747953C>T	ENST00000375001.3	+	3	630	c.207C>T	c.(205-207)ttC>ttT	p.F69F		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	69	Laminin G-like.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTACAGTTTCGGGCCTGGTG	0.627																																																	0													65.0	61.0	62.0					9																	101747953		2203	4300	6503	SO:0001819	synonymous_variant	1306			L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.207C>T	9.37:g.101747953C>T			Q5T6J4|Q9UDC5|Q9Y4W4	Silent	SNP	pfam_Collagenase_NC10/endostatin,pfam_Collagen,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.F69	ENST00000375001.3	37	c.207	CCDS35081.1	9																																																																																			COL15A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.627	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL15A1	HGNC	protein_coding	OTTHUMT00000053386.3	C	NM_001855		101747953	+1	no_errors	ENST00000375001	ensembl	human	known	70_37	silent	SNP	0.017	T
COL24A1	255631	genome.wustl.edu	37	1	86591519	86591519	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:86591519G>T	ENST00000370571.2	-	3	866	c.500C>A	c.(499-501)gCc>gAc	p.A167D	COL24A1_ENST00000436319.1_Missense_Mutation_p.A167D	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	167	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AATAGTAATGGCAAATGAGTG	0.358																																																	0													57.0	53.0	54.0					1																	86591519		1848	4090	5938	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.500C>A	1.37:g.86591519G>T	ENSP00000359603:p.Ala167Asp		C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.A167D	ENST00000370571.2	37	c.500	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900249	0.33535	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02944	4.1;4.1	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.000000	0.39544	N	0.001328	T	0.12518	0.0304	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.00448	-1.1733	10	0.87932	D	0	.	19.0718	0.93140	0.0:0.0:1.0:0.0	.	167;167	F8WDM8;Q17RW2	.;COOA1_HUMAN	D	167	ENSP00000359603:A167D;ENSP00000392531:A167D	ENSP00000359603:A167D	A	-	2	0	COL24A1	86364107	1.000000	0.71417	0.948000	0.38648	0.035000	0.12851	9.419000	0.97397	2.751000	0.94390	0.655000	0.94253	GCC	COL24A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.358	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	G	NM_152890		86591519	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	1.000	T
COL5A1	1289	genome.wustl.edu	37	9	137544686	137544686	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:137544686C>T	ENST00000371817.3	+	1	523				COL5A1-AS1_ENST00000371813.4_RNA	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1						axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		cccgaggcctctcttaaggca	0.577																																																	0																																										SO:0001627	intron_variant	414316			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.109+10544C>T	9.37:g.137544686C>T			Q15094|Q5SUX4	RNA	SNP	-	NULL	ENST00000371817.3	37	NULL	CCDS6982.1	9																																																																																			COL5A1-AS1	-	-		0.577	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1-AS1	HGNC	protein_coding	OTTHUMT00000054954.2	C	NM_000093		137544686	-1	no_errors	ENST00000371813	ensembl	human	known	70_37	rna	SNP	0.467	T
CRIM1	51232	genome.wustl.edu	37	2	36775709	36775709	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:36775709G>A	ENST00000280527.2	+	17	3343	c.2976G>A	c.(2974-2976)aaG>aaA	p.K992K	AC007401.2_ENST00000406220.1_Intron	NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	992					insulin-like growth factor receptor signaling pathway (GO:0048009)|nervous system development (GO:0007399)|regulation of cell growth (GO:0001558)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	insulin-like growth factor-activated receptor activity (GO:0005010)|PDZ domain binding (GO:0030165)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				TGGACTGCAAGAAAGGAACCA	0.393																																																	0													83.0	81.0	82.0					2																	36775709		2203	4300	6503	SO:0001819	synonymous_variant	51232			AF168681	CCDS1783.1	2p21	2010-06-29	2005-07-25		ENSG00000150938	ENSG00000150938			2359	protein-coding gene	gene with protein product		606189	"""cysteine-rich motor neuron 1"""	S52		10642437	Standard	NM_016441		Approved		uc002rpd.3	Q9NZV1	OTTHUMG00000099419	ENST00000280527.2:c.2976G>A	2.37:g.36775709G>A			Q2M2G4|Q59GH0|Q7LCQ5|Q9H318	Silent	SNP	pfam_VWF_C,pfam_Prot_inh_I15_antistasin-like,superfamily_Prot_inh_I14/15_hirudin/antisn,smart_IGFBP-like,smart_VWC_out,smart_VWF_C,pfscan_VWF_C	p.K992	ENST00000280527.2	37	c.2976	CCDS1783.1	2																																																																																			CRIM1	-	NULL		0.393	CRIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRIM1	HGNC	protein_coding	OTTHUMT00000216878.2	G	NM_016441		36775709	+1	no_errors	ENST00000280527	ensembl	human	known	70_37	silent	SNP	1.000	A
CSDE1	7812	genome.wustl.edu	37	1	115277086	115277086	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:115277086G>A	ENST00000358528.4	-	7	985	c.559C>T	c.(559-561)Cag>Tag	p.Q187*	CSDE1_ENST00000534699.1_Nonsense_Mutation_p.Q187*|CSDE1_ENST00000261443.5_Nonsense_Mutation_p.Q156*|CSDE1_ENST00000369530.1_Nonsense_Mutation_p.Q202*|CSDE1_ENST00000438362.2_Nonsense_Mutation_p.Q233*|CSDE1_ENST00000530886.1_Nonsense_Mutation_p.Q57*|CSDE1_ENST00000339438.6_Nonsense_Mutation_p.Q156*	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	187	CSD 3.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACTACTCCCTGACAGCGGGCT	0.398																																																	0													77.0	78.0	78.0					1																	115277086		2203	4300	6503	SO:0001587	stop_gained	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.559C>T	1.37:g.115277086G>A	ENSP00000351329:p.Gln187*		A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Nonsense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot	p.Q202*	ENST00000358528.4	37	c.604	CCDS30812.1	1	.	.	.	.	.	.	.	.	.	.	G	40	8.137267	0.98672	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699;ENST00000529046	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-3.595	20.3967	0.98985	0.0:0.0:1.0:0.0	.	.	.	.	X	156;233;187;156;57;202;187;57	.	ENSP00000261443:Q156X	Q	-	1	0	CSDE1	115078609	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.540000	0.82074	2.829000	0.97493	0.655000	0.94253	CAG	CSDE1	-	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot		0.398	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1	G	NM_007158		115277086	-1	no_errors	ENST00000369530	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DNM1P51	0	genome.wustl.edu	37	15	84954060	84954060	+	RNA	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:84954060G>C	ENST00000558801.1	-	0	7705									DNM1 pseudogene 51																		CTCCAGGTGGGAGCCACCCCG	0.677																																																	0																																												114817					15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84954060G>C				RNA	SNP	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			CSPG4P5	-	-		0.677	DNM1P51-001	KNOWN	basic	processed_transcript	CSPG4P5	HGNC	pseudogene	OTTHUMT00000471721.1	G			84954060	-1	no_errors	ENST00000456932	ensembl	human	known	70_37	rna	SNP	0.001	C
CXCL3	2921	genome.wustl.edu	37	4	74903165	74903166	+	Intron	INS	-	-	T	rs386400496|rs3048371|rs386400495|rs80273517|rs10658871|rs77966613	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:74903165_74903166insT	ENST00000296026.4	-	4	386				CXCL3_ENST00000511669.1_5'UTR	NM_002090.2	NP_002081.2	P19876	CXCL3_HUMAN	chemokine (C-X-C motif) ligand 3						immune response (GO:0006955)|inflammatory response (GO:0006954)|neutrophil chemotaxis (GO:0030593)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			central_nervous_system(1)|endometrium(1)	2	Breast(15;0.00612)		all cancers(17;0.00273)|Lung(101;0.196)			CTCCTGAATGCTTTTTTTTTTT	0.446																																																	0																																										SO:0001627	intron_variant	2921			M36821	CCDS34007.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000163734		"""Endogenous ligands"""	4604	protein-coding gene	gene with protein product		139111	"""GRO3 oncogene"""	GRO3		2217207	Standard	NM_002090		Approved	SCYB3, GROg, MIP-2b, CINC-2b	uc003hhl.3	P19876		ENST00000296026.4:c.309-171->A	4.37:g.74903176_74903176dupT			Q4W5H9	RNA	INS	-	NULL	ENST00000296026.4	37	NULL	CCDS34007.1	4																																																																																			CXCL3	-	-		0.446	CXCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL3	HGNC	protein_coding	OTTHUMT00000362721.1	-			74903166	-1	no_errors	ENST00000511669	ensembl	human	putative	70_37	rna	INS	0.000:0.001	T
LLNLR-249E10.1	0	genome.wustl.edu	37	19	15870967	15870967	+	lincRNA	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:15870967C>G	ENST00000595525.1	+	0	0																											TCCCAGTCCTCAAGAGCCCCC	0.587																																																	0																																												388514																															19.37:g.15870967C>G				RNA	SNP	-	NULL	ENST00000595525.1	37	NULL		19																																																																																			CYP4F24P	-	-		0.587	LLNLR-249E10.1-001	KNOWN	basic	lincRNA	CYP4F24P	HGNC	lincRNA	OTTHUMT00000472008.1	C			15870967	-1	no_errors	ENST00000587443	ensembl	human	known	70_37	rna	SNP	0.000	G
DAP3	7818	genome.wustl.edu	37	1	155701849	155701849	+	Intron	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:155701849C>G	ENST00000368336.5	+	11	1117				DAP3_ENST00000535183.1_Intron|DAP3_ENST00000343043.3_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000471642.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AAATTTGTTTCTACTTAGATT	0.373																																																	0													29.0	29.0	29.0					1																	155701849		2202	4299	6501	SO:0001627	intron_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.993+25C>G	1.37:g.155701849C>G			B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.373	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	C	NM_004632		155701849	+1	no_errors	ENST00000462978	ensembl	human	known	70_37	rna	SNP	0.000	G
DCAF10	79269	genome.wustl.edu	37	9	37860308	37860308	+	Intron	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:37860308G>C	ENST00000377724.3	+	6	1676				DCAF10_ENST00000483167.1_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000242323.7_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10						protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						CATACTGCTAGAGATCCTGCT	0.502																																																	0																																										SO:0001627	intron_variant	79269			BC003520	CCDS6613.2, CCDS75835.1	9p13.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000122741	ENSG00000122741		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	23686	protein-coding gene	gene with protein product			"""WD repeat domain 32"""	WDR32			Standard	NM_001286810		Approved	MGC10765, FLJ23201	uc004aao.3	Q5QP82	OTTHUMG00000019934	ENST00000377724.3:c.1311+118G>C	9.37:g.37860308G>C			A4VCJ5|Q32NE2|Q8N2Q5|Q96ET5|Q9BTQ5|Q9H5P6	RNA	SNP	-	NULL	ENST00000377724.3	37	NULL	CCDS6613.2	9																																																																																			DCAF10	-	-		0.502	DCAF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF10	HGNC	protein_coding	OTTHUMT00000052485.2	G	NM_024345		37860308	+1	no_errors	ENST00000461549	ensembl	human	known	70_37	rna	SNP	0.000	C
SLC25A32	81034	genome.wustl.edu	37	8	104427430	104427430	+	5'Flank	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:104427430C>G	ENST00000297578.4	-	0	0				DCAF13_ENST00000521971.1_5'Flank|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000519682.1_5'Flank|DCAF13_ENST00000297579.5_Missense_Mutation_p.S71W|DCAF13_ENST00000521716.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CGCCCTGCCTCGCCCACAAAT	0.642																																																	0													59.0	65.0	63.0					8																	104427430		2202	4300	6502	SO:0001631	upstream_gene_variant	25879			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427430C>G	Exception_encountered		Q96JZ6|Q96SU7	Missense_Mutation	SNP	pfam_Sof1,pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S71W	ENST00000297578.4	37	c.212	CCDS6300.1	8	.	.	.	.	.	.	.	.	.	.	C	10.34	1.322321	0.23994	.	.	ENSG00000164934	ENST00000297579	T	0.76968	-1.06	3.36	2.46	0.29980	.	1.008970	0.07983	N	0.985966	T	0.74673	0.3747	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.65496	-0.6154	7	0.87932	D	0	2.3527	5.6807	0.17774	0.0:0.4932:0.3963:0.1104	.	.	.	.	W	71	ENSP00000297579:S71W	ENSP00000297579:S71W	S	+	2	0	DCAF13	104496606	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	0.011000	0.13264	0.963000	0.38082	0.655000	0.94253	TCG	DCAF13	-	NULL		0.642	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF13	HGNC	protein_coding	OTTHUMT00000380290.2	C	NM_030780		104427430	+1	no_errors	ENST00000297579	ensembl	human	known	70_37	missense	SNP	0.001	G
DCHS1	8642	genome.wustl.edu	37	11	6662202	6662202	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:6662202G>A	ENST00000299441.3	-	2	1054	c.643C>T	c.(643-645)Cga>Tga	p.R215*		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	215	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTTCTCTCGGTCCAGTTCC	0.612																																																	0													103.0	96.0	98.0					11																	6662202		2201	4296	6497	SO:0001587	stop_gained	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.643C>T	11.37:g.6662202G>A	ENSP00000299441:p.Arg215*		O15098	Nonsense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R215*	ENST00000299441.3	37	c.643	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	g	38	7.209787	0.98136	.	.	ENSG00000166341	ENST00000299441	.	.	.	4.67	4.67	0.58626	.	0.000000	0.38959	N	0.001517	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.991	0.86353	0.0:0.0:1.0:0.0	.	.	.	.	X	215	.	ENSP00000299441:R215X	R	-	1	2	DCHS1	6618778	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.914000	0.63348	2.308000	0.77769	0.539000	0.68188	CGA	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	G	NM_003737		6662202	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DCX	1641	genome.wustl.edu	37	X	110653588	110653588	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:110653588C>G	ENST00000338081.3	-	2	453	c.282G>C	c.(280-282)aaG>aaC	p.K94N	DCX_ENST00000371993.2_Missense_Mutation_p.K13N|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000488120.1_Missense_Mutation_p.K13N|DCX_ENST00000356220.3_Missense_Mutation_p.K13N|DCX_ENST00000356915.2_Missense_Mutation_p.K13N	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	94					axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TCCTGGATGTCTTATCTCTTT	0.522																																																	0													119.0	109.0	112.0					X																	110653588		2203	4300	6503	SO:0001583	missense	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.282G>C	X.37:g.110653588C>G	ENSP00000337697:p.Lys94Asn		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom	p.K94N	ENST00000338081.3	37	c.282	CCDS14556.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.99|17.99	3.523718|3.523718	0.64747|0.64747	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120;ENST00000468911|ENST00000358070	T;T;T;T;T;T|.	0.54866|.	1.41;1.43;1.27;1.41;1.43;0.55|.	5.37|5.37	3.59|3.59	0.41128|0.41128	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.52725|0.52725	0.1752|0.1752	L|L	0.38175|0.38175	1.15|1.15	0.51233|0.51233	D|D	0.999916|0.999916	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.77557|.	0.99;0.99|.	T|T	0.41610|0.41610	-0.9499|-0.9499	10|5	0.66056|.	D|.	0.02|.	.|.	10.6289|10.6289	0.45523|0.45523	0.0:0.8404:0.0:0.1596|0.0:0.8404:0.0:0.1596	.|.	82;94|.	B4DM53;O43602|.	.;DCX_HUMAN|.	N|T	13;13;94;13;13;13|86	ENSP00000349385:K13N;ENSP00000361061:K13N;ENSP00000337697:K94N;ENSP00000348553:K13N;ENSP00000419861:K13N;ENSP00000418811:K13N|.	ENSP00000337697:K94N|.	K|R	-|-	3|2	2|0	DCX|DCX	110540244|110540244	0.567000|0.567000	0.26626|0.26626	0.610000|0.610000	0.28997|0.28997	0.987000|0.987000	0.75469|0.75469	1.162000|1.162000	0.31786|0.31786	0.619000|0.619000	0.30197|0.30197	0.513000|0.513000	0.50165|0.50165	AAG|AGA	DCX	-	pirsf_Doublecortin_chordata		0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	C	NM_178153		110653588	-1	no_errors	ENST00000338081	ensembl	human	known	70_37	missense	SNP	0.995	G
DDX27	55661	genome.wustl.edu	37	20	47841461	47841461	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:47841461C>T	ENST00000371764.4	+	5	568				DDX27_ENST00000484427.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27							nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCGTGGTCATCAGCTAAGTTT	0.488																																																	0													124.0	108.0	113.0					20																	47841461		2203	4300	6503	SO:0001627	intron_variant	55661			AL049766	CCDS13416.1	20q13.13	2010-07-06	2003-06-13		ENSG00000124228	ENSG00000124228		"""DEAD-boxes"""	15837	protein-coding gene	gene with protein product			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 27"""				Standard	NM_017895		Approved	dJ686N3.1, DRS1	uc002xuh.3	Q96GQ7	OTTHUMG00000033072	ENST00000371764.4:c.560-21C>T	20.37:g.47841461C>T			A0AVB6|B7ZLY1|Q5VXM7|Q8WYG4|Q969N7|Q96F57|Q96L97|Q9BWY9|Q9BXF0|Q9H990|Q9NWU3|Q9P0C2|Q9UGD6	RNA	SNP	-	NULL	ENST00000371764.4	37	NULL	CCDS13416.1	20																																																																																			DDX27	-	-		0.488	DDX27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX27	HGNC	protein_coding	OTTHUMT00000080485.1	C			47841461	+1	no_errors	ENST00000462328	ensembl	human	known	70_37	rna	SNP	0.003	T
DDX3X	1654	genome.wustl.edu	37	X	41205783	41205783	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:41205783C>T	ENST00000399959.2	+	14	2378	c.1523C>T	c.(1522-1524)tCa>tTa	p.S508L	RN7SL15P_ENST00000582825.1_RNA|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.S492L	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	508	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with GSK3B.|Necessary for interaction with XPO1.				ATP catabolic process (GO:0006200)|cellular response to arsenic-containing substance (GO:0071243)|cellular response to osmotic stress (GO:0071470)|chromosome segregation (GO:0007059)|DNA duplex unwinding (GO:0032508)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway (GO:0097193)|mature ribosome assembly (GO:0042256)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell growth (GO:0030307)|positive regulation of chemokine (C-C motif) ligand 5 production (GO:0071651)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of translation (GO:0045727)|positive regulation of translational initiation (GO:0045948)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|stress granule assembly (GO:0034063)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|ATP-dependent RNA helicase activity (GO:0004004)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 5'-UTR binding (GO:0048027)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|RNA binding (GO:0003723)|RNA stem-loop binding (GO:0035613)|transcription factor binding (GO:0008134)|translation initiation factor binding (GO:0031369)			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTGGACATTTCAAATGTGAAA	0.348										HNSCC(61;0.18)																																							0													141.0	135.0	137.0					X																	41205783		2196	4299	6495	SO:0001583	missense	1654			U50553	CCDS43931.1, CCDS55404.1	Xp11.3-p11.23	2013-07-16	2013-07-16	2003-06-20	ENSG00000215301	ENSG00000215301		"""DEAD-boxes"""	2745	protein-coding gene	gene with protein product		300160	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 3"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked"""	DDX3		9381176, 9730595	Standard	NM_001193416		Approved	DBX, HLP2, DDX14	uc004dfe.3	O00571	OTTHUMG00000021369	ENST00000399959.2:c.1523C>T	X.37:g.41205783C>T	ENSP00000382840:p.Ser508Leu		A8K538|B4E3E8|O15536	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.S508L	ENST00000399959.2	37	c.1523	CCDS43931.1	X	.	.	.	.	.	.	.	.	.	.	C	28.2	4.900032	0.92035	.	.	ENSG00000215301	ENST00000399959;ENST00000457138	T;T	0.05025	3.51;3.51	5.22	5.22	0.72569	Helicase, C-terminal (3);	0.258227	0.39985	N	0.001205	T	0.14743	0.0356	L	0.28740	0.885	0.80722	D	1	D;D;D	0.65815	0.988;0.995;0.995	P;P;P	0.60609	0.773;0.877;0.837	T	0.01702	-1.1292	10	0.87932	D	0	-8.6292	17.9413	0.89027	0.0:1.0:0.0:0.0	.	492;520;508	B4E3E8;Q59GX6;O00571	.;.;DDX3X_HUMAN	L	508;492	ENSP00000382840:S508L;ENSP00000392494:S492L	ENSP00000382840:S508L	S	+	2	0	DDX3X	41090727	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.047000	0.57383	2.170000	0.68504	0.600000	0.82982	TCA	DDX3X	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.348	DDX3X-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX3X	HGNC	protein_coding	OTTHUMT00000056253.1	C	NM_024005		41205783	+1	no_errors	ENST00000399959	ensembl	human	known	70_37	missense	SNP	1.000	T
DDX60	55601	genome.wustl.edu	37	4	169196651	169196651	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:169196651C>T	ENST00000393743.3	-	16	2440	c.2149G>A	c.(2149-2151)Gca>Aca	p.A717T		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	717					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|positive regulation of MDA-5 signaling pathway (GO:1900245)|positive regulation of RIG-I signaling pathway (GO:1900246)|response to virus (GO:0009615)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)	ATP binding (GO:0005524)|double-stranded DNA binding (GO:0003690)|double-stranded RNA binding (GO:0003725)|helicase activity (GO:0004386)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TCATTTTCTGCATCCTGCATT	0.313																																																	0													63.0	60.0	61.0					4																	169196651		2203	4300	6503	SO:0001583	missense	55601			AK001649	CCDS34097.1	4q32.3	2010-02-17			ENSG00000137628	ENSG00000137628			25942	protein-coding gene	gene with protein product		613974				12477932	Standard	NM_017631		Approved	FLJ20035	uc003irp.3	Q8IY21	OTTHUMG00000161350	ENST00000393743.3:c.2149G>A	4.37:g.169196651C>T	ENSP00000377344:p.Ala717Thr		Q6PK35|Q9NVE3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A717T	ENST00000393743.3	37	c.2149	CCDS34097.1	4	.	.	.	.	.	.	.	.	.	.	C	9.428	1.084842	0.20309	.	.	ENSG00000137628	ENST00000393743	T	0.18174	2.23	5.19	-3.1	0.05315	.	1.430170	0.04125	N	0.317025	T	0.13243	0.0321	L	0.42245	1.32	0.09310	N	1	B	0.16166	0.016	B	0.09377	0.004	T	0.30268	-0.9984	10	0.18710	T	0.47	.	6.4871	0.22095	0.205:0.3051:0.0:0.4898	.	717	Q8IY21	DDX60_HUMAN	T	717	ENSP00000377344:A717T	ENSP00000377344:A717T	A	-	1	0	DDX60	169433226	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.837000	0.01689	-0.644000	0.05465	-0.253000	0.11424	GCA	DDX60	-	NULL		0.313	DDX60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX60	HGNC	protein_coding	OTTHUMT00000364622.1	C	NM_017631		169196651	-1	no_errors	ENST00000393743	ensembl	human	known	70_37	missense	SNP	0.000	T
DHH	50846	genome.wustl.edu	37	12	49487995	49487995	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:49487995C>T	ENST00000266991.2	-	1	607	c.301G>A	c.(301-303)Gag>Aag	p.E101K	RP11-386G11.8_ENST00000553174.1_RNA|RP11-386G11.8_ENST00000548030.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	101					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						CTCCTTACCTCGGTCATCAGG	0.627																																																	0													69.0	68.0	68.0					12																	49487995		2203	4300	6503	SO:0001583	missense	50846			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.301G>A	12.37:g.49487995C>T	ENSP00000266991:p.Glu101Lys		Q15794	Missense_Mutation	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.E101K	ENST00000266991.2	37	c.301	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	c	13.84	2.357902	0.41801	.	.	ENSG00000139549	ENST00000266991	D	0.99259	-5.64	5.44	4.54	0.55810	Hedgehog/DD-peptidase (2);Hedgehog, N-terminal signaling domain (1);	0.109901	0.64402	D	0.000008	D	0.94847	0.8335	N	0.01446	-0.86	0.38977	D	0.958862	B	0.06786	0.001	B	0.04013	0.001	D	0.92423	0.5947	10	0.25106	T	0.35	-16.5915	13.4826	0.61345	0.0:0.922:0.0:0.078	.	101	O43323	DHH_HUMAN	K	101	ENSP00000266991:E101K	ENSP00000266991:E101K	E	-	1	0	DHH	47774262	0.920000	0.31207	0.955000	0.39395	0.988000	0.76386	1.661000	0.37408	1.286000	0.44565	0.552000	0.68991	GAG	DHH	-	pfam_Hedgehog_signaling_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,pirsf_Hedgehog,prints_Hedgehog		0.627	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	HGNC	protein_coding	OTTHUMT00000408973.1	C	NM_021044		49487995	-1	no_errors	ENST00000266991	ensembl	human	known	70_37	missense	SNP	0.994	T
DHX38	9785	genome.wustl.edu	37	16	72132678	72132678	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:72132678C>T	ENST00000268482.3	+	5	1260	c.751C>T	c.(751-753)Cga>Tga	p.R251*	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	251					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCTGTCCACTCGAGATCGAGA	0.627																																					Melanoma(97;711 1442 7855 13832 28836)												0													41.0	39.0	40.0					16																	72132678		2198	4300	6498	SO:0001587	stop_gained	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.751C>T	16.37:g.72132678C>T	ENSP00000268482:p.Arg251*		B4DVG8|D3DWS7|O75212|Q96HN7	Nonsense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R251*	ENST00000268482.3	37	c.751	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	42	9.197101	0.99098	.	.	ENSG00000140829	ENST00000268482	.	.	.	5.08	5.08	0.68730	.	0.146210	0.46758	D	0.000272	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.0448	0.30542	0.1596:0.7588:0.0:0.0816	.	.	.	.	X	251	.	ENSP00000268482:R251X	R	+	1	2	DHX38	70690179	1.000000	0.71417	0.996000	0.52242	0.958000	0.62258	3.255000	0.51484	2.535000	0.85469	0.609000	0.83330	CGA	DHX38	-	NULL		0.627	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	C	NM_014003		72132678	+1	no_errors	ENST00000268482	ensembl	human	known	70_37	nonsense	SNP	0.962	T
DNAJC1	64215	genome.wustl.edu	37	10	22048229	22048229	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:22048229C>G	ENST00000376980.3	-	11	1756	c.1466G>C	c.(1465-1467)aGa>aCa	p.R489T	DNAJC1_ENST00000483085.1_5'Flank	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	489					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				AGACCGAGCTCTCTCTTTTCT	0.547																																																	0													105.0	103.0	104.0					10																	22048229		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1466G>C	10.37:g.22048229C>G	ENSP00000366179:p.Arg489Thr		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.R489T	ENST00000376980.3	37	c.1466	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822824	0.32237	.	.	ENSG00000136770	ENST00000376980	T	0.64085	-0.08	5.44	1.12	0.20585	.	0.076936	0.49916	D	0.000140	T	0.46132	0.1377	L	0.54323	1.7	0.09310	N	1	P;B	0.40144	0.704;0.167	B;B	0.30716	0.119;0.024	T	0.33317	-0.9873	10	0.27785	T	0.31	-0.3976	8.1473	0.31119	0.0:0.2488:0.6103:0.1408	.	210;489	Q96NY3;Q96KC8	.;DNJC1_HUMAN	T	489	ENSP00000366179:R489T	ENSP00000366179:R489T	R	-	2	0	DNAJC1	22088235	0.101000	0.21875	0.013000	0.15412	0.044000	0.14063	1.537000	0.36083	0.621000	0.30232	0.491000	0.48974	AGA	DNAJC1	-	pfscan_Myb-like_dom		0.547	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048229	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.050	G
DNAJC1	64215	genome.wustl.edu	37	10	22048470	22048470	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:22048470C>T	ENST00000376980.3	-	11	1515	c.1225G>A	c.(1225-1227)Gac>Aac	p.D409N	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	409					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GTGATCATGTCATCGGGCAAG	0.607																																																	0													53.0	47.0	49.0					10																	22048470		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1225G>A	10.37:g.22048470C>T	ENSP00000366179:p.Asp409Asn		B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.D409N	ENST00000376980.3	37	c.1225	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	6.084	0.383800	0.11524	.	.	ENSG00000136770	ENST00000376980	T	0.22134	1.97	5.58	2.65	0.31530	.	0.662303	0.15841	N	0.242002	T	0.11410	0.0278	L	0.29908	0.895	0.80722	D	1	B;B	0.29716	0.001;0.255	B;B	0.22152	0.001;0.038	T	0.12889	-1.0530	10	0.15499	T	0.54	-2.474	5.7543	0.18164	0.0:0.4795:0.2457:0.2748	.	130;409	Q96NY3;Q96KC8	.;DNJC1_HUMAN	N	409	ENSP00000366179:D409N	ENSP00000366179:D409N	D	-	1	0	DNAJC1	22088476	0.963000	0.33076	0.660000	0.29694	0.021000	0.10359	0.863000	0.27913	0.736000	0.32559	-0.424000	0.05967	GAC	DNAJC1	-	NULL		0.607	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048470	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.981	T
DOK1	1796	genome.wustl.edu	37	2	74783590	74783590	+	Silent	SNP	C	C	G	rs373881338		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:74783590C>G	ENST00000233668.5	+	5	1464	c.795C>G	c.(793-795)ctC>ctG	p.L265L	LOXL3_ENST00000409986.1_5'Flank|DOK1_ENST00000340004.6_3'UTR|M1AP_ENST00000464686.1_5'Flank|DOK1_ENST00000480318.1_3'UTR|LOXL3_ENST00000264094.3_5'Flank|DOK1_ENST00000409429.1_Silent_p.L126L|LOXL3_ENST00000393937.2_5'Flank	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	265					cell surface receptor signaling pathway (GO:0007166)|insulin receptor signaling pathway (GO:0008286)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	receptor signaling protein activity (GO:0005057)			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ACGATGTTCTCAGAGCTGACT	0.622																																					Esophageal Squamous(36;520 860 12502 33616 51270)												0													55.0	57.0	56.0					2																	74783590		2203	4300	6503	SO:0001819	synonymous_variant	1796			U70987	CCDS1954.1, CCDS56125.1	2p13	2008-05-21	2002-08-29		ENSG00000115325	ENSG00000115325			2990	protein-coding gene	gene with protein product		602919	"""docking protein 1, 62kD (downstream of tyrosine kinase 1)"""			9008160, 9790776, 15546884	Standard	NM_001381		Approved	p62dok	uc002sms.3	Q99704	OTTHUMG00000129956	ENST00000233668.5:c.795C>G	2.37:g.74783590C>G			O43204|Q53TY2|Q9UHG6	Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1	p.L265	ENST00000233668.5	37	c.795	CCDS1954.1	2																																																																																			DOK1	-	NULL		0.622	DOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK1	HGNC	protein_coding	OTTHUMT00000252218.3	C	NM_001381		74783590	+1	no_errors	ENST00000233668	ensembl	human	known	70_37	silent	SNP	0.002	G
DSEL	92126	genome.wustl.edu	37	18	65180154	65180154	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr18:65180154C>T	ENST00000310045.7	-	2	3195	c.1722G>A	c.(1720-1722)atG>atA	p.M574I	CTD-2541J13.2_ENST00000581951.1_RNA|CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	564					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	isomerase activity (GO:0016853)|sulfotransferase activity (GO:0008146)			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTTCAGTCTCATTGCTGAAG	0.428																																																	0													94.0	88.0	90.0					18																	65180154		2203	4300	6503	SO:0001583	missense	92126			AF480435	CCDS11995.1	18q22.1	2007-01-29	2007-01-29	2007-01-29	ENSG00000171451	ENSG00000171451			18144	protein-coding gene	gene with protein product		611125	"""chromosome 18 open reading frame 4"""	C18orf4		16505484	Standard	NM_032160		Approved	NCAG1, FLJ11477	uc002lke.1	Q8IZU8	OTTHUMG00000132804	ENST00000310045.7:c.1722G>A	18.37:g.65180154C>T	ENSP00000310565:p.Met574Ile		Q17RH1|Q6P5Z3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas	p.M574I	ENST00000310045.7	37	c.1722	CCDS11995.1	18	.	.	.	.	.	.	.	.	.	.	C	15.90	2.970832	0.53614	.	.	ENSG00000171451	ENST00000310045;ENST00000397964	T	0.19938	2.11	5.78	4.91	0.64330	.	0.046312	0.85682	U	0.000000	T	0.23133	0.0559	M	0.65975	2.015	0.51233	D	0.999916	B	0.32573	0.376	B	0.20577	0.03	T	0.03514	-1.1029	10	0.59425	D	0.04	-9.2741	14.4476	0.67361	0.0:0.9287:0.0:0.0713	.	564	Q8IZU8	DSEL_HUMAN	I	574;564	ENSP00000310565:M574I	ENSP00000310565:M574I	M	-	3	0	DSEL	63331134	1.000000	0.71417	0.997000	0.53966	0.886000	0.51366	7.633000	0.83260	1.459000	0.47892	0.563000	0.77884	ATG	DSEL	-	NULL		0.428	DSEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSEL	HGNC	protein_coding	OTTHUMT00000256221.1	C	NM_032160		65180154	-1	no_errors	ENST00000310045	ensembl	human	known	70_37	missense	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56382415	56382415	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:56382415C>G	ENST00000361203.3	-	65	17180	c.17173G>C	c.(17173-17175)Gac>Cac	p.D5725H	DST_ENST00000370754.5_Missense_Mutation_p.D6014H|DST_ENST00000370769.4_Missense_Mutation_p.D5836H|DST_ENST00000244364.6_Missense_Mutation_p.D3422H|DST_ENST00000446842.2_Missense_Mutation_p.D5510H|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.D3748H|DST_ENST00000370788.2_Missense_Mutation_p.D3639H|DST_ENST00000340834.4_5'UTR			Q03001	DYST_HUMAN	dystonin	5725					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GCTGCTTGGTCAAACTAAACA	0.393																																																	0													57.0	51.0	53.0					6																	56382415		1875	4088	5963	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.17173G>C	6.37:g.56382415C>G	ENSP00000354508:p.Asp5725His		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.D6014H	ENST00000361203.3	37	c.18040		6	.	.	.	.	.	.	.	.	.	.	C	12.79	2.042621	0.35989	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77;0.77	5.44	4.55	0.56014	.	0.110411	0.39341	N	0.001393	T	0.28928	0.0718	L	0.51422	1.61	0.29756	N	0.83595	B;P;B;B;B	0.35307	0.011;0.494;0.085;0.001;0.036	B;B;B;B;B	0.39935	0.044;0.314;0.086;0.011;0.046	T	0.14090	-1.0485	9	0.15952	T	0.53	.	14.7535	0.69546	0.0:0.7252:0.2748:0.0	.	3748;5836;6014;5834;3422	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	H	3422;6014;5836;3748;5510;3639;5725	ENSP00000244364:D3422H;ENSP00000359790:D6014H;ENSP00000359805:D5836H;ENSP00000400883:D3748H;ENSP00000393645:D5510H;ENSP00000359824:D3639H;ENSP00000354508:D5725H	ENSP00000244364:D3422H	D	-	1	0	DST	56490374	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.686000	0.61700	1.386000	0.46466	0.650000	0.86243	GAC	DST	-	pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.393	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56382415	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	G
DST	667	genome.wustl.edu	37	6	56483917	56483917	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:56483917C>T	ENST00000370765.6	-	23	5022	c.4915G>A	c.(4915-4917)Gag>Aag	p.E1639K	DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6379					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAATCCTGCTCTGTTTTTGTC	0.363																																																	0													138.0	143.0	141.0					6																	56483917		2201	4300	6501	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4915G>A	6.37:g.56483917C>T	ENSP00000359801:p.Glu1639Lys		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E1639K	ENST00000370765.6	37	c.4915	CCDS4959.1	6	.	.	.	.	.	.	.	.	.	.	C	14.76	2.631620	0.46944	.	.	ENSG00000151914	ENST00000370765	T	0.32272	1.46	5.35	5.35	0.76521	.	.	.	.	.	T	0.18002	0.0432	.	.	.	0.09310	N	0.999993	P	0.47910	0.902	P	0.46659	0.523	T	0.02047	-1.1223	7	0.10111	T	0.7	.	19.4438	0.94838	0.0:1.0:0.0:0.0	.	1639	Q03001-3	.	K	1639	ENSP00000359801:E1639K	ENSP00000359801:E1639K	E	-	1	0	DST	56591876	0.855000	0.29742	0.998000	0.56505	0.787000	0.44495	2.884000	0.48562	2.661000	0.90470	0.650000	0.86243	GAG	DST	-	superfamily_Ig/albumin-bd		0.363	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	C	NM_001723		56483917	-1	no_errors	ENST00000370765	ensembl	human	known	70_37	missense	SNP	0.731	T
DTWD1	56986	genome.wustl.edu	37	15	49935672	49935672	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:49935672G>T	ENST00000251250.6	+	6	1019	c.812G>T	c.(811-813)aGa>aTa	p.R271I	DTWD1_ENST00000558653.1_Missense_Mutation_p.R271I|DTWD1_ENST00000403028.3_Missense_Mutation_p.R271I|DTWD1_ENST00000415425.1_Missense_Mutation_p.R184I	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	271										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		GAGAAATACAGAGGGCAATAT	0.333																																																	0													66.0	73.0	71.0					15																	49935672		2195	4288	6483	SO:0001583	missense	56986			BC032535	CCDS10132.1	15q21.2	2005-08-09			ENSG00000104047	ENSG00000104047			30926	protein-coding gene	gene with protein product							Standard	NM_020234		Approved	MDS009, MGC111207	uc001zxs.3	Q8N5C7	OTTHUMG00000131567	ENST00000251250.6:c.812G>T	15.37:g.49935672G>T	ENSP00000251250:p.Arg271Ile		Q567Q3|Q8WVG9|Q9NRU6	Missense_Mutation	SNP	pfam_DTW	p.R271I	ENST00000251250.6	37	c.812	CCDS10132.1	15	.	.	.	.	.	.	.	.	.	.	G	13.68	2.310072	0.40895	.	.	ENSG00000104047	ENST00000403028;ENST00000251250;ENST00000415425	T;T	0.23950	1.88;1.88	5.51	-1.44	0.08856	DTW (1);	0.536026	0.22968	N	0.053475	T	0.12860	0.0312	L	0.36672	1.1	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.15752	-1.0426	9	.	.	.	-4.5785	1.2996	0.02076	0.432:0.2307:0.2153:0.1219	.	184;271	Q8N5C7-2;Q8N5C7	.;DTWD1_HUMAN	I	271;271;184	ENSP00000385399:R271I;ENSP00000251250:R271I	.	R	+	2	0	DTWD1	47722964	0.419000	0.25449	0.993000	0.49108	0.992000	0.81027	-0.009000	0.12765	-0.178000	0.10672	-0.312000	0.09012	AGA	DTWD1	-	pfam_DTW		0.333	DTWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTWD1	HGNC	protein_coding	OTTHUMT00000254431.2	G	NM_020234		49935672	+1	no_errors	ENST00000251250	ensembl	human	known	70_37	missense	SNP	0.970	T
DUSP7	1849	genome.wustl.edu	37	3	52088244	52088244	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:52088244C>T	ENST00000495880.1	-	2	847	c.664G>A	c.(664-666)Gac>Aac	p.D222N	DUSP7_ENST00000296483.6_Missense_Mutation_p.D171N			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	222	Ser-rich.				inactivation of MAPK activity (GO:0000188)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of MAP kinase activity (GO:0043407)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGCTCTCGGTCCGACTCGCCG	0.672																																																	0													93.0	87.0	89.0					3																	52088244		2203	4300	6503	SO:0001583	missense	1849			X93921	CCDS33766.1, CCDS33766.2	3p21	2011-06-09			ENSG00000164086	ENSG00000164086		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3073	protein-coding gene	gene with protein product		602749				8626780, 9205128	Standard	NM_001947		Approved	MKP-X, PYST2	uc003dct.3	Q16829	OTTHUMG00000157819	ENST00000495880.1:c.664G>A	3.37:g.52088244C>T	ENSP00000417183:p.Asp222Asn		Q2M3J7|Q8NFJ0	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP	p.D171N	ENST00000495880.1	37	c.511	CCDS33766.2	3	.	.	.	.	.	.	.	.	.	.	C	36	5.899541	0.97081	.	.	ENSG00000164086	ENST00000495880;ENST00000296483;ENST00000469623	T;T;T	0.10573	4.2;4.23;2.86	5.53	5.53	0.82687	.	0.000000	0.85682	D	0.000000	T	0.36413	0.0966	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.986;0.996	T	0.02852	-1.1102	10	0.39692	T	0.17	.	19.0554	0.93062	0.0:1.0:0.0:0.0	.	171;222	Q16829-2;Q16829	.;DUS7_HUMAN	N	222;171;155	ENSP00000417183:D222N;ENSP00000296483:D171N;ENSP00000418566:D155N	ENSP00000296483:D171N	D	-	1	0	DUSP7	52063284	1.000000	0.71417	0.947000	0.38551	0.905000	0.53344	7.753000	0.85153	2.585000	0.87301	0.549000	0.68633	GAC	DUSP7	-	pirsf_MKP		0.672	DUSP7-001	NOVEL	basic|CCDS	protein_coding	DUSP7	HGNC	protein_coding	OTTHUMT00000349697.1	C	NM_001947		52088244	-1	no_errors	ENST00000296483	ensembl	human	known	70_37	missense	SNP	1.000	T
ECI2	10455	genome.wustl.edu	37	6	4116258	4116258	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:4116258C>A	ENST00000380118.3	-	10	1071	c.1035G>T	c.(1033-1035)ttG>ttT	p.L345F	C6orf201_ENST00000333388.5_Intron|C6orf201_ENST00000380175.4_Intron|ECI2_ENST00000465828.1_Missense_Mutation_p.L315F|C6orf201_ENST00000430835.2_Intron|ECI2_ENST00000413766.2_Missense_Mutation_p.L178F|ECI2_ENST00000380125.2_Missense_Mutation_p.L315F|ECI2_ENST00000361538.2_Missense_Mutation_p.L315F			O75521	ECI2_HUMAN	enoyl-CoA delta isomerase 2	345					fatty acid catabolic process (GO:0009062)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	dodecenoyl-CoA delta-isomerase activity (GO:0004165)|fatty-acyl-CoA binding (GO:0000062)|receptor binding (GO:0005102)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	11						TTGAAATTCTCAAGGCCTGGA	0.463																																																	0													77.0	71.0	73.0					6																	4116258		2203	4300	6503	SO:0001583	missense	10455			AF069301	CCDS4490.1, CCDS43420.1, CCDS43420.2	6p24.3	2011-03-15	2011-03-15	2011-03-15	ENSG00000198721	ENSG00000198721			14601	protein-coding gene	gene with protein product	"""acyl-Coenzyme A binding domain containing 2"", "" Hepatocellular carcinoma-associated antigen 88"""	608024	"""peroxisomal D3,D2-enoyl-CoA isomerase"""	PECI		10419495	Standard	NM_206836		Approved	ACBD2, DRS1, HCA88	uc003mwf.3	O75521	OTTHUMG00000014158	ENST00000380118.3:c.1035G>T	6.37:g.4116258C>A	ENSP00000369461:p.Leu345Phe		Q5JYK5|Q5JYK7|Q7L124|Q8N0X0|Q9BUE9|Q9H0T9|Q9NQH1|Q9NYH7|Q9UN55	Missense_Mutation	SNP	pfam_Acyl-CoA-binding_protein,pfam_Crotonase_core,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein	p.L345F	ENST00000380118.3	37	c.1035	CCDS43420.2	6	.	.	.	.	.	.	.	.	.	.	C	23.8	4.460442	0.84317	.	.	ENSG00000198721	ENST00000380118;ENST00000380125;ENST00000413766;ENST00000361538;ENST00000465828	T;T;T;T;T	0.70399	-0.48;-0.48;-0.48;-0.48;-0.48	5.44	5.44	0.79542	.	0.332477	0.36338	N	0.002647	D	0.85035	0.5605	H	0.96048	3.76	0.49299	D	0.999776	P	0.48834	0.916	P	0.54372	0.75	D	0.89402	0.3696	10	0.72032	D	0.01	.	17.8336	0.88689	0.0:1.0:0.0:0.0	.	345	O75521	ECI2_HUMAN	F	345;315;178;315;315	ENSP00000369461:L345F;ENSP00000369468:L315F;ENSP00000406969:L178F;ENSP00000354737:L315F;ENSP00000420309:L315F	ENSP00000354737:L315F	L	-	3	2	ECI2	4061257	1.000000	0.71417	0.913000	0.36048	0.857000	0.48899	4.684000	0.61686	2.536000	0.85505	0.655000	0.94253	TTG	ECI2	-	NULL		0.463	ECI2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ECI2	HGNC	protein_coding	OTTHUMT00000039716.4	C	NM_006117		4116258	-1	no_errors	ENST00000380118	ensembl	human	known	70_37	missense	SNP	0.980	A
EDEM3	80267	genome.wustl.edu	37	1	184681603	184681603	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:184681603G>C	ENST00000318130.8	-	14	1766	c.1500C>G	c.(1498-1500)ctC>ctG	p.L500L	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Silent_p.L457L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	500					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGTAGTAGAGAGCCAAAGAG	0.284																																																	0													71.0	72.0	71.0					1																	184681603		2203	4289	6492	SO:0001819	synonymous_variant	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1500C>G	1.37:g.184681603G>C			B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Silent	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L500	ENST00000318130.8	37	c.1500	CCDS1363.2	1																																																																																			EDEM3	-	superfamily_Glyco_hydro_47		0.284	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	G	NM_025191		184681603	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	silent	SNP	0.036	C
EDEM3	80267	genome.wustl.edu	37	1	184681623	184681623	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:184681623G>A	ENST00000318130.8	-	14	1746	c.1480C>T	c.(1480-1482)Cat>Tat	p.H494Y	EDEM3_ENST00000466392.1_5'Flank|EDEM3_ENST00000367512.3_Missense_Mutation_p.H451Y	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	494					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGTAACAGATGAGCTTCTGTT	0.294																																																	0													72.0	73.0	73.0					1																	184681623		2203	4287	6490	SO:0001583	missense	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1480C>T	1.37:g.184681623G>A	ENSP00000318147:p.His494Tyr		B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.H494Y	ENST00000318130.8	37	c.1480	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862065	0.91511	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	D;D	0.82984	-1.67;-1.67	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.95592	0.8567	H	0.99074	4.42	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97298	0.9929	10	0.87932	D	0	.	19.7826	0.96422	0.0:0.0:1.0:0.0	.	494	Q9BZQ6	EDEM3_HUMAN	Y	494;451	ENSP00000318147:H494Y;ENSP00000356482:H451Y	ENSP00000318147:H494Y	H	-	1	0	EDEM3	182948246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.652000	0.98499	2.680000	0.91292	0.655000	0.94253	CAT	EDEM3	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47		0.294	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	G	NM_025191		184681623	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	missense	SNP	1.000	A
EFCAB6	64800	genome.wustl.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	G	rs202185564		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:44083357C>G	ENST00000262726.7	-	11	1389	c.1136G>C	c.(1135-1137)aGa>aCa	p.R379T	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227T	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																																	0													41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>C	22.37:g.44083357C>G	ENSP00000262726:p.Arg379Thr		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R379T	ENST00000262726.7	37	c.1136	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	C	9.774	1.173613	0.21704	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.14640	2.5;2.49	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12646	0.0307	M	0.63428	1.95	0.09310	N	1	D;P	0.53312	0.959;0.938	B;B	0.43701	0.399;0.428	T	0.21177	-1.0253	10	0.22109	T	0.4	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	T	227;379	ENSP00000379533:R227T;ENSP00000262726:R379T	ENSP00000262726:R379T	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA	EFCAB6	-	NULL		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	C	NM_022785		44083357	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	missense	SNP	0.010	G
RP11-24M17.5	0	genome.wustl.edu	37	15	76071810	76071810	+	RNA	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:76071810C>A	ENST00000395215.3	+	0	322																											AACATAGAATCATTGGTAAGA	0.517																																																	0																																												0																															15.37:g.76071810C>A				RNA	SNP	-	NULL	ENST00000395215.3	37	NULL		15	.	.	.	.	.	.	.	.	.	.	.	7.202	0.593716	0.13875	.	.	ENSG00000187812	ENST00000395215	.	.	.	0.756	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.5504	0.07844	0.5804:0.4196:0.0:0.0	.	.	.	.	X	94	.	ENSP00000378641:S94X	S	+	2	0	AC019294.2	73858865	1.000000	0.71417	0.582000	0.28627	0.241000	0.25554	3.174000	0.50847	-0.687000	0.05162	0.162000	0.16502	TCA	RP11-24M17.5	-	-		0.517	RP11-24M17.5-001	KNOWN	basic	processed_transcript	ENSG00000187812	Clone_based_vega_gene	pseudogene	OTTHUMT00000420501.1	C			76071810	+1	no_errors	ENST00000395215	ensembl	human	known	70_37	rna	SNP	0.998	A
LRRC37BP1	147172	genome.wustl.edu	37	17	28961213	28961213	+	RNA	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:28961213G>C	ENST00000417404.1	+	0	1471									leucine rich repeat containing 37B pseudogene 1																		TTTCCCACTTGACATTCTTCT	0.383																																																	0																																												0			BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28961213G>C				RNA	SNP	-	NULL	ENST00000417404.1	37	NULL		17																																																																																			AC005562.1	-	-		0.383	LRRC37BP1-003	KNOWN	basic	processed_transcript	ENSG00000214719	Clone_based_vega_gene	pseudogene	OTTHUMT00000256203.1	G	NR_015341		28961213	+1	no_errors	ENST00000398849	ensembl	human	known	70_37	rna	SNP	0.019	C
GAL3ST2	64090	genome.wustl.edu	37	2	242741105	242741105	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:242741105C>T	ENST00000192314.6	+	3	250				AC114730.5_ENST00000437438.1_RNA	NM_022134.2	NP_071417.2	Q9H3Q3	G3ST2_HUMAN	galactose-3-O-sulfotransferase 2						biosynthetic process (GO:0009058)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylceramide sulfotransferase activity (GO:0001733)|sulfotransferase activity (GO:0008146)			endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|skin(1)	14		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGGAGGTCTCTCCTTGCGGT	0.672																																																	0																																										SO:0001627	intron_variant	0			AB040610	CCDS33427.1	2q37.2	2014-05-19			ENSG00000154252	ENSG00000154252		"""Sulfotransferases, membrane-bound"""	24869	protein-coding gene	gene with protein product		608237				11029462	Standard	NM_022134		Approved	GP3ST	uc002wcj.1	Q9H3Q3	OTTHUMG00000151473	ENST00000192314.6:c.120-91C>T	2.37:g.242741105C>T			Q17RK0|Q57Z52	RNA	SNP	-	NULL	ENST00000192314.6	37	NULL	CCDS33427.1	2																																																																																			AC114730.5	-	-		0.672	GAL3ST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000215023	Clone_based_vega_gene	protein_coding	OTTHUMT00000322792.1	C	NM_022134		242741105	-1	no_errors	ENST00000437438	ensembl	human	known	70_37	rna	SNP	0.000	T
PPP3CB	5532	genome.wustl.edu	37	10	75255357	75255357	+	Intron	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:75255357G>C	ENST00000360663.5	-	1	197				RP11-137L10.6_ENST00000600887.1_RNA|RP11-137L10.6_ENST00000595069.1_RNA|PPP3CB_ENST00000394829.2_Intron|RP11-137L10.6_ENST00000595935.1_RNA|RP11-137L10.6_ENST00000422977.1_RNA|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000597958.1_RNA|PPP3CB_ENST00000545874.1_Intron|USP54_ENST00000497106.1_5'Flank|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|PPP3CB_ENST00000342558.3_Intron|PPP3CB_ENST00000394822.2_Intron|PPP3CB_ENST00000394828.2_Intron			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme						axon extension (GO:0048675)|calcium ion-dependent exocytosis (GO:0017156)|cellular response to drug (GO:0035690)|dephosphorylation (GO:0016311)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|innate immune response (GO:0045087)|learning (GO:0007612)|locomotion involved in locomotory behavior (GO:0031987)|memory (GO:0007613)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein dephosphorylation (GO:0006470)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|regulation of synaptic plasticity (GO:0048167)|response to cytokine (GO:0034097)|signal transduction (GO:0007165)|social behavior (GO:0035176)|T cell activation (GO:0042110)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)	calcineurin complex (GO:0005955)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein phosphatase activity (GO:0033192)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|protein dimerization activity (GO:0046983)|protein phosphatase 2B binding (GO:0030346)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTCCGCCCCGGCCTGAAAGCA	0.667																																																	0																																										SO:0001627	intron_variant	0			M29551	CCDS7328.1, CCDS44436.1, CCDS44437.1	10q22.2	2010-03-17	2010-03-05		ENSG00000107758	ENSG00000107758	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9315	protein-coding gene	gene with protein product	"""calcineurin A beta"", ""protein phosphatase 2B, catalytic subunit, beta isoform"""	114106	"""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform (calcineurin A beta)"", ""protein phosphatase 3 (formerly 2B), catalytic subunit, beta isoform"""	CALNB		1659808, 2558868	Standard	XM_005269944		Approved	CALNA2, CNA2, PP2Bbeta	uc001juf.3	P16298	OTTHUMG00000018472	ENST00000360663.5:c.85+205C>G	10.37:g.75255357G>C			P16299|Q5F2F9|Q8N1F0|Q8N3W4	RNA	SNP	-	NULL	ENST00000360663.5	37	NULL	CCDS7328.1	10																																																																																			RP11-137L10.6	-	-		0.667	PPP3CB-001	KNOWN	basic|CCDS	protein_coding	ENSG00000221817	Clone_based_vega_gene	protein_coding	OTTHUMT00000048669.1	G	NM_021132		75255357	+1	no_errors	ENST00000422977	ensembl	human	known	70_37	rna	SNP	0.010	C
DNM1P47	100216544	genome.wustl.edu	37	15	102303914	102303914	+	RNA	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:102303914C>T	ENST00000561463.1	+	0	11960									DNM1 pseudogene 47																		TTCATCTTCTCAGAGCTGCTG	0.592																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102303914C>T				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.592	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	C	NG_009149		102303914	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	1.000	T
HSD17B1	3292	genome.wustl.edu	37	17	40704915	40704915	+	5'UTR	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:40704915C>G	ENST00000585807.1	+	0	3684				HSD17B1_ENST00000225929.5_5'Flank|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1						bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	CAGGTGATATCAAGCCCAGAG	0.672																																																	0													27.0	25.0	26.0					17																	40704915		2203	4300	6503	SO:0001623	5_prime_UTR_variant	0				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.-37C>G	17.37:g.40704915C>G			B3KXS1|Q2M2L8	RNA	SNP	-	NULL	ENST00000585807.1	37	NULL	CCDS11428.1	17																																																																																			RP11-400F19.6	-	-		0.672	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000266962	Clone_based_vega_gene	protein_coding	OTTHUMT00000450392.1	C	NM_000413		40704915	-1	no_errors	ENST00000590513	ensembl	human	known	70_37	rna	SNP	0.000	G
MIR371B	100616185	genome.wustl.edu	37	19	54292152	54292152	+	lincRNA	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:54292152G>A	ENST00000595160.1	-	0	0				AC008753.4_ENST00000597420.1_lincRNA|MIR372_ENST00000362225.1_RNA|MIR371A_ENST00000362161.1_RNA|MIR373_ENST00000362273.1_RNA	NR_029864.1|NR_029865.1|NR_039909.1				microRNA 371b																		CTCCATTTTAGATAATAAAAA	0.537																																																	0																																												0					19	2011-09-12				ENSG00000269877		"""ncRNAs / Micro RNAs"""	41863	non-coding RNA	RNA, micro							Standard	NR_039909		Approved	hsa-mir-371b	uc021vba.1				19.37:g.54292152G>A				RNA	SNP	-	NULL	ENST00000595160.1	37	NULL		19																																																																																			AC008753.4	-	-		0.537	MIR371B-001	KNOWN	basic	lincRNA	ENSG00000269564	Clone_based_vega_gene	lincRNA	OTTHUMT00000465677.1	G	NR_039909		54292152	+1	no_errors	ENST00000597420	ensembl	human	known	70_37	rna	SNP	0.015	A
EPHA5	2044	genome.wustl.edu	37	4	66467429	66467429	+	Silent	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:66467429C>A	ENST00000273854.3	-	3	1440	c.840G>T	c.(838-840)ggG>ggT	p.G280G	EPHA5_ENST00000432638.2_Silent_p.G280G|EPHA5_ENST00000354839.4_Silent_p.G280G|EPHA5_ENST00000511294.1_Silent_p.G280G	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	280	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCAGCCACTCCCCTTCGGCGC	0.532										TSP Lung(17;0.13)																																							0													77.0	80.0	79.0					4																	66467429		2203	4300	6503	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.840G>T	4.37:g.66467429C>A			Q7Z3F2	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G280	ENST00000273854.3	37	c.840	CCDS3513.1	4																																																																																			EPHA5	-	pirsf_Tyr_kinase_ephrin_rcpt		0.532	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	C	NM_004439		66467429	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	silent	SNP	1.000	A
EPYC	1833	genome.wustl.edu	37	12	91371936	91371936	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:91371936G>A	ENST00000261172.3	-	3	361	c.269C>T	c.(268-270)cCc>cTc	p.P90L		NM_004950.4	NP_004941.2	Q99645	EPYC_HUMAN	epiphycan	90					female pregnancy (GO:0007565)	proteinaceous extracellular matrix (GO:0005578)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						AATCAGCCTGGGAGTAGATTC	0.532											OREG0022019	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													123.0	121.0	121.0					12																	91371936		2203	4300	6503	SO:0001583	missense	1833			AF031658	CCDS31870.1	12q21	2010-03-19	2006-11-21	2006-11-21	ENSG00000083782	ENSG00000083782		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	3053	protein-coding gene	gene with protein product	"""epiphycan proteoglycan"""	601657	"""dermatan sulphate proteoglycan 3"", ""dermatan sulfate proteoglycan 3"""	DSPG3		8975717	Standard	NM_004950		Approved	Pg-Lb, SLRR3B	uc001tbk.3	Q99645	OTTHUMG00000170072	ENST00000261172.3:c.269C>T	12.37:g.91371936G>A	ENSP00000261172:p.Pro90Leu	1282	A8K3M7|Q8NEJ5	Missense_Mutation	SNP	pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp	p.P90L	ENST00000261172.3	37	c.269	CCDS31870.1	12	.	.	.	.	.	.	.	.	.	.	G	19.38	3.817052	0.70912	.	.	ENSG00000083782	ENST00000261172;ENST00000551767	T;T	0.70282	0.18;-0.47	5.48	5.48	0.80851	.	0.150732	0.64402	D	0.000012	T	0.67822	0.2934	L	0.32530	0.975	0.80722	D	1	P	0.44139	0.827	B	0.44044	0.439	T	0.71174	-0.4670	10	0.62326	D	0.03	.	19.7244	0.96157	0.0:0.0:1.0:0.0	.	90	Q99645	EPYC_HUMAN	L	90	ENSP00000261172:P90L;ENSP00000448272:P90L	ENSP00000261172:P90L	P	-	2	0	EPYC	89896067	1.000000	0.71417	1.000000	0.80357	0.543000	0.35085	6.282000	0.72639	2.741000	0.93983	0.555000	0.69702	CCC	EPYC	-	NULL		0.532	EPYC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPYC	HGNC	protein_coding	OTTHUMT00000407146.2	G	NM_004950		91371936	-1	no_errors	ENST00000261172	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM114A2	10827	genome.wustl.edu	37	5	153377387	153377387	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:153377387G>C	ENST00000351797.4	-	12	1381	c.1305C>G	c.(1303-1305)ttC>ttG	p.F435L	FAM114A2_ENST00000518946.1_5'Flank|FAM114A2_ENST00000522858.1_Missense_Mutation_p.F435L|FAM114A2_ENST00000520667.1_Missense_Mutation_p.F435L|FAM114A2_ENST00000520313.1_Missense_Mutation_p.F365L	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	435							purine nucleotide binding (GO:0017076)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						GGCAGGTAGTGAACTCTTTAG	0.338																																																	0													243.0	254.0	250.0					5																	153377387		2203	4300	6503	SO:0001583	missense	10827			AF159700	CCDS4323.1	5q31-q33	2008-06-13	2008-06-13	2008-06-13	ENSG00000055147	ENSG00000055147			1333	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 3"""	C5orf3		10843801	Standard	XM_005268359		Approved	133K02	uc003lvc.3	Q9NRY5	OTTHUMG00000130147	ENST00000351797.4:c.1305C>G	5.37:g.153377387G>C	ENSP00000341597:p.Phe435Leu		B2R8D8|Q9H7E0	Missense_Mutation	SNP	pfam_DUF719	p.F435L	ENST00000351797.4	37	c.1305	CCDS4323.1	5	.	.	.	.	.	.	.	.	.	.	G	18.16	3.561637	0.65538	.	.	ENSG00000055147	ENST00000351797;ENST00000522858;ENST00000520667;ENST00000520313	T;T;T;T	0.37235	1.43;1.43;1.43;1.21	5.31	0.685	0.18009	.	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.83384	2.64	0.50313	D	0.999862	D;D	0.60160	0.968;0.987	P;P	0.50405	0.53;0.64	T	0.49360	-0.8948	10	0.72032	D	0.01	-13.179	8.1645	0.31217	0.4961:0.0:0.5039:0.0	.	365;435	E7ESJ7;Q9NRY5	.;F1142_HUMAN	L	435;435;435;365	ENSP00000341597:F435L;ENSP00000430489:F435L;ENSP00000430384:F435L;ENSP00000429088:F365L	ENSP00000341597:F435L	F	-	3	2	FAM114A2	153357580	0.609000	0.26975	1.000000	0.80357	0.993000	0.82548	-0.503000	0.06383	0.169000	0.19679	-0.137000	0.14449	TTC	FAM114A2	-	NULL		0.338	FAM114A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM114A2	HGNC	protein_coding	OTTHUMT00000252455.1	G	NM_018691		153377387	-1	no_errors	ENST00000351797	ensembl	human	known	70_37	missense	SNP	0.996	C
FAM126B	285172	genome.wustl.edu	37	2	201846253	201846253	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:201846253G>A	ENST00000418596.3	-	12	1520	c.1333C>T	c.(1333-1335)Cta>Tta	p.L445L	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	445						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCCGGATTAGACTTAAGCTA	0.463																																																	0													90.0	81.0	84.0					2																	201846253		2203	4300	6503	SO:0001819	synonymous_variant	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1333C>T	2.37:g.201846253G>A			B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	pfam_Hyccin	p.L445	ENST00000418596.3	37	c.1333	CCDS2335.1	2																																																																																			FAM126B	-	NULL		0.463	FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM126B	HGNC	protein_coding	OTTHUMT00000256285.3	G	NM_173822		201846253	-1	no_errors	ENST00000418596	ensembl	human	known	70_37	silent	SNP	0.402	A
FAM135B	51059	genome.wustl.edu	37	8	139165096	139165096	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:139165096G>A	ENST00000395297.1	-	13	1792	c.1622C>T	c.(1621-1623)cCa>cTa	p.P541L		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	541										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTCTGGACCTGGACTCCTTCT	0.502										HNSCC(54;0.14)																																							0													79.0	78.0	78.0					8																	139165096		1947	4154	6101	SO:0001583	missense	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.1622C>T	8.37:g.139165096G>A	ENSP00000378710:p.Pro541Leu		B5MDB3|O95879|Q2WGJ7|Q3KP46	Missense_Mutation	SNP	pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like	p.P541L	ENST00000395297.1	37	c.1622	CCDS6375.2	8	.	.	.	.	.	.	.	.	.	.	G	6.741	0.505595	0.12822	.	.	ENSG00000147724	ENST00000395297	T	0.12361	2.69	5.45	1.51	0.23008	.	1.020530	0.07783	N	0.953647	T	0.13543	0.0328	L	0.60455	1.87	0.09310	N	1	B;B;B	0.17268	0.009;0.021;0.001	B;B;B	0.16722	0.013;0.016;0.003	T	0.45160	-0.9280	10	0.10636	T	0.68	-1.0872	7.9736	0.30143	0.4005:0.0:0.5995:0.0	.	541;541;541	Q49AJ0-3;Q49AJ0-4;Q49AJ0	.;.;F135B_HUMAN	L	541	ENSP00000378710:P541L	ENSP00000276737:P541L	P	-	2	0	FAM135B	139234278	0.002000	0.14202	0.009000	0.14445	0.850000	0.48378	1.390000	0.34464	0.345000	0.23873	0.655000	0.94253	CCA	FAM135B	-	NULL		0.502	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM135B	HGNC	protein_coding	OTTHUMT00000313590.3	G	NM_015912		139165096	-1	no_errors	ENST00000395297	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM47C	442444	genome.wustl.edu	37	X	37027934	37027934	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:37027934C>T	ENST00000358047.3	+	1	1503	c.1451C>T	c.(1450-1452)tCt>tTt	p.S484F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	484										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AAGGACGTATCTCATCTCCGC	0.627																																																	0													71.0	67.0	69.0					X																	37027934		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1451C>T	X.37:g.37027934C>T	ENSP00000367913:p.Ser484Phe		Q6ZU46	Missense_Mutation	SNP	NULL	p.S484F	ENST00000358047.3	37	c.1451	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	9.459	1.092609	0.20471	.	.	ENSG00000198173	ENST00000358047	T	0.20200	2.09	0.675	-0.896	0.10557	.	.	.	.	.	T	0.20088	0.0483	M	0.64997	1.995	0.09310	N	1	P	0.36110	0.537	B	0.40134	0.32	T	0.26052	-1.0114	9	0.56958	D	0.05	.	1.5834	0.02639	0.3373:0.3861:0.0:0.2766	.	484	Q5HY64	FA47C_HUMAN	F	484	ENSP00000367913:S484F	ENSP00000367913:S484F	S	+	2	0	FAM47C	36937855	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.798000	0.27014	-0.383000	0.07858	-0.788000	0.03338	TCT	FAM47C	-	NULL		0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		37027934	+1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM155B	27112	genome.wustl.edu	37	X	68749583	68749583	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:68749583C>T	ENST00000252338.4	+	3	1245	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y		NM_015686.2	NP_056501.2	O75949	F155B_HUMAN	family with sequence similarity 155, member B	402						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						accatcactaccacccccatc	0.602																																																	0													245.0	159.0	188.0					X																	68749583		2203	4300	6503	SO:0001819	synonymous_variant	27112			AF087142	CCDS35317.1	Xq13.1	2008-04-15	2008-04-15	2008-04-15	ENSG00000130054	ENSG00000130054			30701	protein-coding gene	gene with protein product			"""transmembrane protein 28"", ""chromosome X open reading frame 63"""	TMEM28, CXorf63			Standard	NM_015686		Approved	TED	uc004dxk.3	O75949	OTTHUMG00000021756	ENST00000252338.4:c.1203C>T	X.37:g.68749583C>T			B1ALV6|B9EGK1|D3DVU1	Silent	SNP	NULL	p.Y401	ENST00000252338.4	37	c.1203	CCDS35317.1	X																																																																																			FAM155B	-	NULL		0.602	FAM155B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM155B	HGNC	protein_coding	OTTHUMT00000057037.1	C	NM_015686		68749583	+1	no_errors	ENST00000252338	ensembl	human	known	70_37	silent	SNP	1.000	T
FAT3	120114	genome.wustl.edu	37	11	92085579	92085579	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:92085579G>T	ENST00000298047.6	+	1	318	c.301G>T	c.(301-303)Gat>Tat	p.D101Y	FAT3_ENST00000541502.1_Missense_Mutation_p.D101Y|FAT3_ENST00000409404.2_Missense_Mutation_p.D101Y|FAT3_ENST00000525166.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	101	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CATCATTGCAGATTTCTGTTT	0.368										TCGA Ovarian(4;0.039)																																							0													72.0	71.0	71.0					11																	92085579		1839	4098	5937	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.301G>T	11.37:g.92085579G>T	ENSP00000298047:p.Asp101Tyr		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.D101Y	ENST00000298047.6	37	c.301		11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960306	0.74016	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.66460	-0.21;-0.21;-0.21	5.53	5.53	0.82687	.	.	.	.	.	D	0.86180	0.5871	M	0.91510	3.215	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88664	0.3191	9	0.87932	D	0	.	18.8073	0.92043	0.0:0.0:1.0:0.0	.	101	Q8TDW7-3	.	Y	101	ENSP00000298047:D101Y;ENSP00000387040:D101Y;ENSP00000443786:D101Y	ENSP00000298047:D101Y	D	+	1	0	FAT3	91725227	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	9.731000	0.98807	2.756000	0.94617	0.655000	0.94253	GAT	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.368	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		G	NM_001008781		92085579	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO24	26261	genome.wustl.edu	37	7	100190413	100190413	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:100190413C>T	ENST00000241071.6	+	5	888	c.566C>T	c.(565-567)tCg>tTg	p.S189L	PCOLCE-AS1_ENST00000544873.1_RNA|FBXO24_ENST00000465843.1_Missense_Mutation_p.S175L|FBXO24_ENST00000468962.1_Missense_Mutation_p.S177L|FBXO24_ENST00000427939.2_Missense_Mutation_p.S227L|FBXO24_ENST00000360609.2_Missense_Mutation_p.S175L|PCOLCE-AS1_ENST00000442166.2_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	189					protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGTTTGCCTCGGACCCAAGG	0.577																																																	0													44.0	43.0	43.0					7																	100190413		2203	4300	6503	SO:0001583	missense	26261			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.566C>T	7.37:g.100190413C>T	ENSP00000241071:p.Ser189Leu		A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.S227L	ENST00000241071.6	37	c.680	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	C	22.8	4.338998	0.81911	.	.	ENSG00000106336	ENST00000241071;ENST00000360609;ENST00000465843;ENST00000468962;ENST00000427939	T;T;T;T;T	0.51325	2.3;0.71;0.71;2.3;2.28	5.74	5.74	0.90152	.	0.248983	0.28914	N	0.013734	T	0.47820	0.1466	N	0.08118	0	0.35396	D	0.791199	D;D;D;D	0.76494	0.997;0.997;0.997;0.999	P;P;P;D	0.71870	0.557;0.557;0.557;0.975	T	0.62511	-0.6839	10	0.72032	D	0.01	-11.5583	13.1208	0.59325	0.0:0.8393:0.1607:0.0	.	177;227;189;175	B4DY42;B4DX91;O75426;O75426-2	.;.;FBX24_HUMAN;.	L	189;175;175;177;227	ENSP00000241071:S189L;ENSP00000353821:S175L;ENSP00000419602:S175L;ENSP00000420239:S177L;ENSP00000416558:S227L	ENSP00000241071:S189L	S	+	2	0	FBXO24	100028349	0.986000	0.35501	0.992000	0.48379	0.961000	0.63080	2.941000	0.49011	2.740000	0.93945	0.558000	0.71614	TCG	FBXO24	-	NULL		0.577	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	C			100190413	+1	no_errors	ENST00000427939	ensembl	human	known	70_37	missense	SNP	0.984	T
FIZ1	84922	genome.wustl.edu	37	19	56104929	56104929	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:56104929G>C	ENST00000221665.3	-	3	467	c.378C>G	c.(376-378)ctC>ctG	p.L126L	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	126					positive regulation of protein phosphorylation (GO:0001934)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCTGGCGCTTGAGGTGGCGGC	0.692																																																	0													10.0	15.0	14.0					19																	56104929		1890	3633	5523	SO:0001819	synonymous_variant	84922			AK027674	CCDS12928.1	19q13.42	2013-01-08				ENSG00000179943		"""Zinc fingers, C2H2-type"""	25917	protein-coding gene	gene with protein product		609133				12566383	Standard	NM_032836		Approved	FLJ14768, ZNF798	uc002qli.4	Q96SL8		ENST00000221665.3:c.378C>G	19.37:g.56104929G>C			A2RU72|Q6ZMJ7	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L126	ENST00000221665.3	37	c.378	CCDS12928.1	19																																																																																			FIZ1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.692	FIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIZ1	HGNC	protein_coding	OTTHUMT00000453350.1	G	NM_032836		56104929	-1	no_errors	ENST00000221665	ensembl	human	known	70_37	silent	SNP	0.991	C
FKBP4	2288	genome.wustl.edu	37	12	2904331	2904331	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:2904331C>T	ENST00000001008.4	+	1	213	c.26C>T	c.(25-27)aCc>aTc	p.T9I	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA|CBX3P4_ENST00000540428.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	9					androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			ATGAAGGCGACCGAGAGCGGG	0.731																																																	0													17.0	18.0	17.0					12																	2904331		2190	4290	6480	SO:0001583	missense	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.26C>T	12.37:g.2904331C>T	ENSP00000001008:p.Thr9Ile		D3DUQ1|Q9UCP1|Q9UCV7	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.T9I	ENST00000001008.4	37	c.26	CCDS8512.1	12	.	.	.	.	.	.	.	.	.	.	c	7.140	0.581617	0.13686	.	.	ENSG00000004478	ENST00000001008	D	0.81659	-1.52	4.46	3.57	0.40892	.	0.317042	0.32015	N	0.006716	T	0.62539	0.2436	N	0.14661	0.345	0.09310	N	0.999999	B	0.14012	0.009	B	0.17098	0.017	T	0.52510	-0.8566	10	0.45353	T	0.12	-0.387	5.6747	0.17741	0.3021:0.5998:0.0:0.0981	.	9	Q02790	FKBP4_HUMAN	I	9	ENSP00000001008:T9I	ENSP00000001008:T9I	T	+	2	0	FKBP4	2774592	0.116000	0.22171	0.975000	0.42487	0.035000	0.12851	0.945000	0.29056	0.871000	0.35750	0.486000	0.48141	ACC	FKBP4	-	NULL		0.731	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	C			2904331	+1	no_errors	ENST00000001008	ensembl	human	known	70_37	missense	SNP	0.625	T
FNDC1	84624	genome.wustl.edu	37	6	159644608	159644608	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:159644608C>T	ENST00000297267.9	+	7	1015	c.815C>T	c.(814-816)tCa>tTa	p.S272L	FNDC1_ENST00000340366.6_Missense_Mutation_p.S272L|FNDC1_ENST00000480856.1_3'UTR	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	272	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S272L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGGGTTATGTCATCTCAGTCT	0.433																																																	1	Substitution - Missense(1)	breast(1)											164.0	162.0	163.0					6																	159644608		2030	4197	6227	SO:0001583	missense	84624			AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.815C>T	6.37:g.159644608C>T	ENSP00000297267:p.Ser272Leu		A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S272L	ENST00000297267.9	37	c.815	CCDS47512.1	6	.	.	.	.	.	.	.	.	.	.	C	25.5	4.649456	0.87958	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.59502	0.26;0.26	5.76	5.76	0.90799	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.76976	0.4063	M	0.83774	2.66	0.45634	D	0.998567	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78529	-0.2169	10	0.87932	D	0	-18.0389	20.3242	0.98691	0.0:1.0:0.0:0.0	.	272;272	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	L	272	ENSP00000297267:S272L;ENSP00000342460:S272L	ENSP00000297267:S272L	S	+	2	0	FNDC1	159564596	1.000000	0.71417	0.214000	0.23707	0.921000	0.55340	7.160000	0.77495	2.882000	0.98803	0.655000	0.94253	TCA	FNDC1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FNDC1	HGNC	protein_coding	OTTHUMT00000042897.3	C	NM_032532		159644608	+1	no_errors	ENST00000297267	ensembl	human	known	70_37	missense	SNP	0.102	T
FOXI1	2299	genome.wustl.edu	37	5	169533237	169533237	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:169533237G>A	ENST00000306268.6	+	1	337	c.276G>A	c.(274-276)caG>caA	p.Q92Q	FOXI1_ENST00000449804.2_Silent_p.Q92Q			Q12951	FOXI1_HUMAN	forkhead box I1	92	Pro-rich.				embryo development (GO:0009790)|inner ear morphogenesis (GO:0042472)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding, bending (GO:0008301)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATGGAGTGCAGAGGCCGCTGC	0.706									Pendred syndrome																																								0													8.0	7.0	8.0					5																	169533237		2182	4251	6433	SO:0001819	synonymous_variant	2299	Familial Cancer Database	Goiter-Deafness syndrome	BC029778	CCDS4372.1, CCDS47337.1	5q34	2008-02-05			ENSG00000168269	ENSG00000168269		"""Forkhead boxes"""	3815	protein-coding gene	gene with protein product		601093		FKHL10		7957066, 8825632	Standard	NM_144769		Approved	FREAC6	uc003mai.4	Q12951	OTTHUMG00000130436	ENST00000306268.6:c.276G>A	5.37:g.169533237G>A			Q14518|Q66SR7|Q8N6L8	Silent	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.Q92	ENST00000306268.6	37	c.276	CCDS4372.1	5																																																																																			FOXI1	-	NULL		0.706	FOXI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXI1	HGNC	protein_coding	OTTHUMT00000252827.2	G	NM_144769, NM_012188		169533237	+1	no_errors	ENST00000306268	ensembl	human	known	70_37	silent	SNP	1.000	A
FOXR2	139628	genome.wustl.edu	37	X	55651041	55651041	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:55651041G>A	ENST00000339140.3	+	1	1209	c.897G>A	c.(895-897)atG>atA	p.M299I		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	299					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGAGTGCATGAGTCAGCCAG	0.502																																																	0													130.0	101.0	111.0					X																	55651041		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.897G>A	X.37:g.55651041G>A	ENSP00000427329:p.Met299Ile			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.M299I	ENST00000339140.3	37	c.897	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043500	0.55003	.	.	ENSG00000189299	ENST00000339140	D	0.95171	-3.63	3.54	2.65	0.31530	.	0.121711	0.50627	D	0.000118	D	0.95781	0.8627	M	0.62723	1.935	0.43879	D	0.996498	D	0.76494	0.999	D	0.79784	0.993	D	0.94968	0.8114	10	0.72032	D	0.01	.	10.0024	0.41938	0.0:0.2043:0.7957:0.0	.	299	Q6PJQ5	FOXR2_HUMAN	I	299	ENSP00000427329:M299I	ENSP00000427329:M299I	M	+	3	0	FOXR2	55667766	1.000000	0.71417	0.095000	0.20976	0.638000	0.38207	2.817000	0.48034	0.843000	0.35070	0.600000	0.82982	ATG	FOXR2	-	NULL		0.502	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55651041	+1	no_errors	ENST00000339140	ensembl	human	known	70_37	missense	SNP	0.998	A
FRAS1	80144	genome.wustl.edu	37	4	79353577	79353577	+	Missense_Mutation	SNP	C	C	T	rs370360459		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:79353577C>T	ENST00000325942.6	+	38	5476	c.5036C>T	c.(5035-5037)aCc>aTc	p.T1679I	FRAS1_ENST00000264895.6_Missense_Mutation_p.T1679I	NM_001166133.1	NP_001159605.1	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	1679					cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGTTCCTCTACCCGGGAAGAC	0.473																																																	0													63.0	63.0	63.0					4																	79353577		1958	4148	6106	SO:0001583	missense	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000325942.6:c.5036C>T	4.37:g.79353577C>T	ENSP00000326330:p.Thr1679Ile		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Missense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.T1679I	ENST00000325942.6	37	c.5036	CCDS54772.1	4	.	.	.	.	.	.	.	.	.	.	C	10.62	1.400550	0.25291	.	.	ENSG00000138759	ENST00000325942;ENST00000264895;ENST00000545316	T;T	0.35973	1.28;1.28	6.17	5.34	0.76211	.	0.365346	0.31145	N	0.008167	T	0.34745	0.0908	L	0.46819	1.47	0.80722	D	1	B;B	0.24823	0.075;0.112	B;B	0.21546	0.035;0.022	T	0.08973	-1.0696	10	0.48119	T	0.1	.	15.5517	0.76158	0.0:0.9345:0.0:0.0655	.	1679;1679	E9PHH6;A2RRR8	.;.	I	1679;1679;99	ENSP00000326330:T1679I;ENSP00000264895:T1679I	ENSP00000264895:T1679I	T	+	2	0	FRAS1	79572601	0.775000	0.28604	0.066000	0.19879	0.003000	0.03518	3.531000	0.53546	1.635000	0.50512	0.655000	0.94253	ACC	FRAS1	-	NULL		0.473	FRAS1-001	NOVEL	basic|CCDS	protein_coding	FRAS1	HGNC	protein_coding	OTTHUMT00000362706.2	C			79353577	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	missense	SNP	0.061	T
FREM3	166752	genome.wustl.edu	37	4	144619899	144619899	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:144619899C>G	ENST00000329798.5	-	1	1929	c.1930G>C	c.(1930-1932)Gag>Cag	p.E644Q	RP13-578N3.3_ENST00000499587.2_RNA	NM_001168235.1	NP_001161707.1	P0C091	FREM3_HUMAN	FRAS1 related extracellular matrix 3	644					cell adhesion (GO:0007155)|cell communication (GO:0007154)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	8						TGTAGCCACTCAGTCACCACT	0.507																																																	0													95.0	81.0	86.0					4																	144619899		692	1591	2283	SO:0001583	missense	166752			BX091796	CCDS54808.1	4q31.21	2011-06-09			ENSG00000183090	ENSG00000183090			25172	protein-coding gene	gene with protein product		608946				15345741	Standard	NM_001168235		Approved		uc021xsj.1	P0C091	OTTHUMG00000161577	ENST00000329798.5:c.1930G>C	4.37:g.144619899C>G	ENSP00000332886:p.Glu644Gln			Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.E644Q	ENST00000329798.5	37	c.1930	CCDS54808.1	4	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133773	0.21123	.	.	ENSG00000183090	ENST00000329798	T	0.20463	2.07	4.01	2.27	0.28462	.	0.064020	0.64402	D	0.000012	T	0.19927	0.0479	L	0.45051	1.395	0.45415	D	0.998396	.	.	.	.	.	.	T	0.04752	-1.0929	8	0.17369	T	0.5	-9.0901	7.982	0.30190	0.0:0.745:0.1622:0.0929	.	.	.	.	Q	644	ENSP00000332886:E644Q	ENSP00000332886:E644Q	E	-	1	0	FREM3	144839349	0.984000	0.35163	0.999000	0.59377	0.991000	0.79684	2.591000	0.46163	0.358000	0.24211	-0.150000	0.13652	GAG	FREM3	-	NULL		0.507	FREM3-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	FREM3	HGNC	protein_coding	OTTHUMT00000365391.1	C	XM_094074		144619899	-1	no_errors	ENST00000329798	ensembl	human	putative	70_37	missense	SNP	1.000	G
GABRB3	2562	genome.wustl.edu	37	15	26828494	26828494	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:26828494G>C	ENST00000311550.5	-	5	640	c.529C>G	c.(529-531)Ctg>Gtg	p.L177V	GABRB3_ENST00000299267.4_Missense_Mutation_p.L177V|GABRB3_ENST00000541819.2_Missense_Mutation_p.L233V|GABRB3_ENST00000545868.1_Missense_Mutation_p.L92V|GABRB3_ENST00000400188.3_Missense_Mutation_p.L106V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	177					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	TCAATTTCCAGAGTGCAGTTC	0.423																																																	0													173.0	158.0	163.0					15																	26828494		2203	4300	6503	SO:0001583	missense	2562				CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.529C>G	15.37:g.26828494G>C	ENSP00000308725:p.Leu177Val		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.L177V	ENST00000311550.5	37	c.529	CCDS10019.1	15	.	.	.	.	.	.	.	.	.	.	G	9.525	1.109433	0.20714	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	D;D;D;D;D;D	0.83419	-1.72;-1.72;-1.72;-1.72;-1.72;-1.72	4.98	2.0	0.26442	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.83119	0.5185	L	0.31526	0.94	0.54753	D	0.999988	D;D;D	0.69078	0.993;0.997;0.994	P;D;D	0.69824	0.873;0.965;0.966	T	0.78912	-0.2017	10	0.35671	T	0.21	.	10.7788	0.46365	0.1697:0.0:0.8303:0.0	.	233;177;177	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	177;233;177;106;92;92	ENSP00000308725:L177V;ENSP00000442408:L233V;ENSP00000299267:L177V;ENSP00000383049:L106V;ENSP00000439169:L92V;ENSP00000452272:L92V	ENSP00000299267:L177V	L	-	1	2	GABRB3	24379587	1.000000	0.71417	0.538000	0.28064	0.970000	0.65996	3.359000	0.52292	0.212000	0.20703	0.650000	0.86243	CTG	GABRB3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.423	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRB3	HGNC	protein_coding	OTTHUMT00000251352.2	G			26828494	-1	no_errors	ENST00000299267	ensembl	human	known	70_37	missense	SNP	0.998	C
GABRA5	2558	genome.wustl.edu	37	15	27114345	27114345	+	5'UTR	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:27114345G>T	ENST00000335625.5	+	0	838				GABRA5_ENST00000557449.1_3'UTR|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_5'UTR|GABRA5_ENST00000355395.5_5'UTR	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5						associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CTGGAGAAGGGAAGAGTTATT	0.418																																																	0													178.0	172.0	174.0					15																	27114345		1048	2140	3188	SO:0001623	5_prime_UTR_variant	2558				CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.-51G>T	15.37:g.27114345G>T			A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	RNA	SNP	-	NULL	ENST00000335625.5	37	NULL	CCDS45194.1	15																																																																																			GABRA5	-	-		0.418	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA5	HGNC	protein_coding	OTTHUMT00000415234.1	G			27114345	+1	no_errors	ENST00000557449	ensembl	human	known	70_37	rna	SNP	0.000	T
MYZAP	100820829	genome.wustl.edu	37	15	57921908	57921908	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:57921908C>T	ENST00000267853.5	+	6	628	c.534C>T	c.(532-534)ctC>ctT	p.L178L	GCOM1_ENST00000587652.1_Silent_p.L178L|GCOM1_ENST00000380560.2_Silent_p.L109L|MYZAP_ENST00000380565.4_Silent_p.L178L|GCOM1_ENST00000380568.3_Silent_p.L178L|GCOM1_ENST00000572390.1_Silent_p.L178L|GCOM1_ENST00000380561.2_Silent_p.L147L|GCOM1_ENST00000380569.2_Silent_p.L178L|GCOM1_ENST00000396180.1_Silent_p.L147L|GCOM1_ENST00000574161.1_Silent_p.L178L|POLR2M_ENST00000380563.2_5'UTR			P0CAP1	MYZAP_HUMAN	myocardial zonula adherens protein	178					intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|I band (GO:0031674)											AGAAAACCCTCGTGGATGTGA	0.463																																																	0													78.0	74.0	75.0					15																	57921908		2192	4292	6484	SO:0001819	synonymous_variant	145781			FJ970029		15q21.3	2012-10-05			ENSG00000263155	ENSG00000263155			43444	protein-coding gene	gene with protein product	"""myocardium-enriched zonula adherens protein"""	614071				20093627, 21992629, 22160502	Standard	NM_001018100		Approved	MYOZAP, Gup, Gup1, GCOM1		P0CAP1	OTTHUMG00000132453	ENST00000267853.5:c.534C>T	15.37:g.57921908C>T			D2E9U7|Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5	Silent	SNP	NULL	p.L178	ENST00000267853.5	37	c.534	CCDS10162.1	15																																																																																			GCOM1	-	NULL		0.463	MYZAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCOM1	HGNC	protein_coding	OTTHUMT00000255716.2	C	NM_001018100		57921908	+1	no_errors	ENST00000380569	ensembl	human	known	70_37	silent	SNP	0.450	T
GEMIN5	25929	genome.wustl.edu	37	5	154272083	154272083	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:154272083C>T	ENST00000285873.7	-	25	3699	c.3624G>A	c.(3622-3624)ttG>ttA	p.L1208L		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1208					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTGCCAGGGTCAAGTCATGGC	0.587																																																	0													57.0	52.0	54.0					5																	154272083		2203	4300	6503	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.3624G>A	5.37:g.154272083C>T			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L1208	ENST00000285873.7	37	c.3624	CCDS4330.1	5																																																																																			GEMIN5	-	NULL		0.587	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	C			154272083	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	silent	SNP	1.000	T
GEMIN5	25929	genome.wustl.edu	37	5	154317604	154317604	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:154317604G>A	ENST00000285873.7	-	1	165	c.90C>T	c.(88-90)ttC>ttT	p.F30F		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	30					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGCGCGGCGAAGCCAAAGA	0.706																																																	0													11.0	13.0	12.0					5																	154317604		2190	4285	6475	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.90C>T	5.37:g.154317604G>A			Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.F30	ENST00000285873.7	37	c.90	CCDS4330.1	5																																																																																			GEMIN5	-	NULL		0.706	GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN5	HGNC	protein_coding	OTTHUMT00000252507.1	G			154317604	-1	no_errors	ENST00000285873	ensembl	human	known	70_37	silent	SNP	1.000	A
GGT1	2678	genome.wustl.edu	37	22	25024698	25024698	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:25024698C>T	ENST00000400382.1	+	16	2357	c.1602C>T	c.(1600-1602)acC>acT	p.T534T	GGT1_ENST00000404920.1_Silent_p.T183T|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000401885.1_Silent_p.T190T|GGT1_ENST00000406383.2_Silent_p.T534T|GGT1_ENST00000400380.1_Silent_p.T534T|GGT1_ENST00000400383.1_Silent_p.T534T|GGT1_ENST00000248923.4_Silent_p.T534T|GGT1_ENST00000404532.1_Silent_p.T190T|GGT1_ENST00000404223.1_Silent_p.T217T|GGT1_ENST00000403838.1_Silent_p.T190T			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	534					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ACCATCACACCCAGATCGCGT	0.667																																																	0													2.0	2.0	2.0					22																	25024698		865	1747	2612	SO:0001819	synonymous_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1602C>T	22.37:g.25024698C>T			Q08247|Q14404|Q8TBS1|Q9UMK1	Silent	SNP	pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase	p.T534	ENST00000400382.1	37	c.1602	CCDS42992.1	22																																																																																			GGT1	-	pfam_GGT_peptidase,tigrfam_GGT_peptidase		0.667	GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GGT1	HGNC	protein_coding	OTTHUMT00000250797.1	C	NM_013430		25024698	+1	no_errors	ENST00000248923	ensembl	human	known	70_37	silent	SNP	0.000	T
GLUL	2752	genome.wustl.edu	37	1	182355367	182355367	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:182355367C>T	ENST00000331872.6	-	4	1016				GLUL_ENST00000491322.1_5'UTR|GLUL_ENST00000311223.5_Intron|GLUL_ENST00000339526.4_Intron|GLUL_ENST00000417584.2_Intron	NM_001033044.2	NP_001028216.1	P15104	GLNA_HUMAN	glutamate-ammonia ligase						cell proliferation (GO:0008283)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to starvation (GO:0009267)|glutamate catabolic process (GO:0006538)|glutamine biosynthetic process (GO:0006542)|neurotransmitter uptake (GO:0001504)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of insulin secretion (GO:0032024)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein homooligomerization (GO:0051260)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glial cell projection (GO:0097386)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|glutamate-ammonia ligase activity (GO:0004356)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Ceftriaxone(DB01212)|Diazoxide(DB01119)|L-Glutamine(DB00130)|L-Methionine(DB00134)|Pegvisomant(DB00082)	CTGGGAATTTCACCTCTAACC	0.517																																																	0													67.0	71.0	70.0					1																	182355367		2203	4299	6502	SO:0001627	intron_variant	2752			AL161952	CCDS1344.1	1q31	2010-05-04	2010-05-04		ENSG00000135821	ENSG00000135821	6.3.1.2		4341	protein-coding gene	gene with protein product	"""glutamine synthetase"""	138290	"""glutamate-ammonia ligase (glutamine synthase)"""	GLNS		1681907, 2888076	Standard	NM_002065		Approved		uc001gpa.2	P15104	OTTHUMG00000037407	ENST00000331872.6:c.475+23G>A	1.37:g.182355367C>T			Q499Y9|Q5T9Z1|Q7Z3W4|Q8IZ17	RNA	SNP	-	NULL	ENST00000331872.6	37	NULL	CCDS1344.1	1																																																																																			GLUL	-	-		0.517	GLUL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUL	HGNC	protein_coding	OTTHUMT00000091043.1	C	NM_002065		182355367	-1	no_errors	ENST00000475808	ensembl	human	known	70_37	rna	SNP	0.000	T
GORASP1	64689	genome.wustl.edu	37	3	39144311	39144312	+	Frame_Shift_Ins	INS	-	-	GCTT			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:39144311_39144312insGCTT	ENST00000319283.3	-	3	1026_1027	c.205_206insAAGC	c.(205-207)ctgfs	p.L69fs	GORASP1_ENST00000479927.1_Intron|GORASP1_ENST00000422110.2_Intron	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	69	PDZ.				Golgi organization (GO:0007030)|mitotic cell cycle (GO:0000278)|negative regulation of dendrite morphogenesis (GO:0050774)|protein transport (GO:0015031)	Golgi membrane (GO:0000139)				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAACACCTCCAGCTTCACGGGC	0.594																																																	0																																										SO:0001589	frameshift_variant	64689			AJ409349	CCDS2681.1, CCDS63596.1, CCDS63597.1	3p22-p21.33	2008-04-23	2002-08-29	2002-05-24	ENSG00000114745	ENSG00000114745			16769	protein-coding gene	gene with protein product		606867	"""golgi phosphoprotein 5"""	GOLPH5			Standard	NM_001278789		Approved	GRASP65, P65, FLJ23443	uc003ciw.1	Q9BQQ3	OTTHUMG00000131292	ENST00000319283.3:c.202_205dupAAGC	3.37:g.39144312_39144315dupGCTT	ENSP00000313869:p.Leu69fs		B3KWC8|Q3SYG7|Q8N272|Q96H42	Frame_Shift_Ins	INS	pfam_GRASP55/65_PDZ,superfamily_PDZ	p.L69fs	ENST00000319283.3	37	c.206_205	CCDS2681.1	3																																																																																			GORASP1	-	pfam_GRASP55/65_PDZ,superfamily_PDZ		0.594	GORASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GORASP1	HGNC	protein_coding	OTTHUMT00000254060.1	-			39144312	-1	no_errors	ENST00000319283	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	GCTT
GP1BA	2811	genome.wustl.edu	37	17	4836613	4836613	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:4836613C>T	ENST00000329125.5	+	2	789	c.714C>T	c.(712-714)gaC>gaT	p.D238D		NM_000173.5	NP_000164.5	P07359	GP1BA_HUMAN	glycoprotein Ib (platelet), alpha polypeptide	238	LRRCT.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|fibrinolysis (GO:0042730)|platelet activation (GO:0030168)|regulation of blood coagulation (GO:0030193)|thrombin receptor signaling pathway (GO:0070493)	anchored component of external side of plasma membrane (GO:0031362)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	thrombin receptor activity (GO:0015057)			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(5)|stomach(1)|urinary_tract(1)	20						GGCTGCAGGACAATGCTGAAA	0.512																																																	0													96.0	89.0	91.0					17																	4836613		2053	4207	6260	SO:0001819	synonymous_variant	2811				CCDS54068.1	17p13.2	2014-09-17			ENSG00000185245	ENSG00000185245		"""CD molecules"""	4439	protein-coding gene	gene with protein product		606672		GP1B		3353370	Standard	NM_000173		Approved	CD42b	uc021tnz.1	P07359	OTTHUMG00000177946	ENST00000329125.5:c.714C>T	17.37:g.4836613C>T			E7ES66|Q14441|Q16469|Q8N1F3|Q8NG39|Q9HDC7|Q9UEK1|Q9UQS4	Silent	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.D238	ENST00000329125.5	37	c.714	CCDS54068.1	17																																																																																			GP1BA	-	smart_Cys-rich_flank_reg_C		0.512	GP1BA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GP1BA	HGNC	protein_coding	OTTHUMT00000439889.1	C			4836613	+1	no_errors	ENST00000329125	ensembl	human	known	70_37	silent	SNP	0.169	T
GPR179	440435	genome.wustl.edu	37	17	36491017	36491017	+	Missense_Mutation	SNP	C	C	A	rs369293710		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:36491017C>A	ENST00000342292.4	-	7	1564	c.1544G>T	c.(1543-1545)cGa>cTa	p.R515L		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	515					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTGGATGCCTCGCTCCAGGGC	0.662																																																	0													15.0	19.0	18.0					17																	36491017		2131	4228	6359	SO:0001583	missense	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.1544G>T	17.37:g.36491017C>A	ENSP00000345060:p.Arg515Leu			Missense_Mutation	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.R515L	ENST00000342292.4	37	c.1544	CCDS42308.1	17	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198501	0.58126	.	.	ENSG00000188888	ENST00000342292	D	0.88741	-2.42	4.46	-1.75	0.08031	GPCR, family 3, C-terminal (2);	0.776386	0.11028	N	0.607544	T	0.77198	0.4095	N	0.14661	0.345	0.29259	N	0.871483	P	0.43169	0.8	P	0.45232	0.474	T	0.70121	-0.4959	10	0.11485	T	0.65	0.4085	6.09	0.19989	0.0:0.2404:0.441:0.3186	.	515	Q6PRD1	GP179_HUMAN	L	515	ENSP00000345060:R515L	ENSP00000345060:R515L	R	-	2	0	GPR179	33744543	0.767000	0.28508	0.182000	0.23118	0.847000	0.48162	0.101000	0.15251	-0.445000	0.07159	0.313000	0.20887	CGA	GPR179	-	pfam_GPCR_3_C,pfscan_GPCR_3_C		0.662	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36491017	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	missense	SNP	0.923	A
GPR179	440435	genome.wustl.edu	37	17	36499124	36499124	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:36499124C>T	ENST00000342292.4	-	1	569	c.549G>A	c.(547-549)gtG>gtA	p.V183V		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	183					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCTCCTCCTGCACCCAGTTCC	0.647																																																	0													77.0	80.0	79.0					17																	36499124		1947	4127	6074	SO:0001819	synonymous_variant	440435				CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.549G>A	17.37:g.36499124C>T				Silent	SNP	pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C	p.V183	ENST00000342292.4	37	c.549	CCDS42308.1	17																																																																																			GPR179	-	NULL		0.647	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR179	HGNC	protein_coding	OTTHUMT00000255329.2	C			36499124	-1	no_errors	ENST00000342292	ensembl	human	known	70_37	silent	SNP	0.035	T
GPR31	2853	genome.wustl.edu	37	6	167570420	167570420	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:167570420G>C	ENST00000366834.1	-	1	1397	c.900C>G	c.(898-900)ctC>ctG	p.L300L		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	300					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		CTTTGCCTCGGAGGGTGTGGA	0.592																																																	0													52.0	57.0	55.0					6																	167570420		2203	4300	6503	SO:0001819	synonymous_variant	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.900C>G	6.37:g.167570420G>C			B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.L300	ENST00000366834.1	37	c.900	CCDS5299.1	6																																																																																			GPR31	-	NULL		0.592	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	HGNC	protein_coding	OTTHUMT00000043111.1	G	NM_005299		167570420	-1	no_errors	ENST00000366834	ensembl	human	known	70_37	silent	SNP	0.000	C
GPRASP1	9737	genome.wustl.edu	37	X	101911587	101911587	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:101911587G>C	ENST00000361600.5	+	5	3547	c.2746G>C	c.(2746-2748)Gaa>Caa	p.E916Q	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E916Q|GPRASP1_ENST00000537097.1_Missense_Mutation_p.E916Q|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E916Q	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	916	Glu-rich.|OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)		p.E916*(1)		NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGATGGAAAAGAAGTCAGTGA	0.463																																																	1	Substitution - Nonsense(1)	large_intestine(1)											99.0	97.0	98.0					X																	101911587		2203	4300	6503	SO:0001583	missense	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.2746G>C	X.37:g.101911587G>C	ENSP00000355146:p.Glu916Gln		O43168|Q96LA1	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.E916Q	ENST00000361600.5	37	c.2746	CCDS35352.1	X	.	.	.	.	.	.	.	.	.	.	G	10.12	1.262579	0.23051	.	.	ENSG00000198932	ENST00000415986;ENST00000444152;ENST00000361600;ENST00000537097	T;T;T;T	0.10005	2.92;2.92;2.92;2.92	2.82	0.993	0.19825	.	.	.	.	.	T	0.10937	0.0267	L	0.50333	1.59	0.09310	N	0.999999	P	0.46987	0.888	B	0.43889	0.435	T	0.23084	-1.0198	9	0.30078	T	0.28	-1.1879	6.4688	0.21997	0.2627:0.0:0.7373:0.0	.	916	Q5JY77	GASP1_HUMAN	Q	916	ENSP00000393691:E916Q;ENSP00000409420:E916Q;ENSP00000355146:E916Q;ENSP00000445683:E916Q	ENSP00000355146:E916Q	E	+	1	0	GPRASP1	101798243	0.008000	0.16893	0.195000	0.23364	0.211000	0.24417	0.972000	0.29409	0.134000	0.18681	0.292000	0.19580	GAA	GPRASP1	-	NULL		0.463	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP1	HGNC	protein_coding	OTTHUMT00000057634.2	G	NM_014710		101911587	+1	no_errors	ENST00000361600	ensembl	human	known	70_37	missense	SNP	0.442	C
GRIA3	2892	genome.wustl.edu	37	X	122387169	122387169	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:122387169C>T	ENST00000371251.1	+	3	336	c.284C>T	c.(283-285)tCg>tTg	p.S95L	GRIA3_ENST00000371256.5_Missense_Mutation_p.S95L|GRIA3_ENST00000541091.1_Missense_Mutation_p.S79L|GRIA3_ENST00000264357.5_Missense_Mutation_p.S95L|GRIA3_ENST00000542149.1_Missense_Mutation_p.S95L|GRIA3_ENST00000479118.1_3'UTR			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	95					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					Lithium(DB01356)	TCCCAGTTCTCGAGAGGGGTG	0.453																																																	0													167.0	132.0	144.0					X																	122387169		2203	4300	6503	SO:0001583	missense	2892			U10301	CCDS14604.1, CCDS14605.1, CCDS76017.1	Xq25	2012-08-29	2012-02-03		ENSG00000125675	ENSG00000125675		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4573	protein-coding gene	gene with protein product		305915	"""glutamate receptor, ionotrophic, AMPA 3"""	GLUR3		1319477, 10644433	Standard	NM_007325		Approved	GluA3, GLURC, MRX94	uc004etr.4	P42263	OTTHUMG00000022685	ENST00000371251.1:c.284C>T	X.37:g.122387169C>T	ENSP00000360297:p.Ser95Leu		D3DTF1|Q4VXD5|Q4VXD6|Q9HDA0|Q9HDA1|Q9HDA2|Q9P0H1	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S95L	ENST00000371251.1	37	c.284	CCDS14604.1	X	.	.	.	.	.	.	.	.	.	.	C	31	5.091815	0.94149	.	.	ENSG00000125675	ENST00000264357;ENST00000542149;ENST00000371256;ENST00000371251;ENST00000541091	T;T;T;T;T	0.24908	1.83;1.83;1.83;1.83;1.83	5.63	5.63	0.86233	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;D;D	0.79108	0.992;0.984;0.972	T	0.56282	-0.8005	10	0.87932	D	0	.	17.7593	0.88460	0.0:1.0:0.0:0.0	.	79;95;95	B7Z4C0;P42263;P42263-2	.;GRIA3_HUMAN;.	L	95;95;95;95;79	ENSP00000264357:S95L;ENSP00000446146:S95L;ENSP00000360302:S95L;ENSP00000360297:S95L;ENSP00000446440:S79L	ENSP00000264357:S95L	S	+	2	0	GRIA3	122214850	1.000000	0.71417	0.951000	0.38953	0.994000	0.84299	7.776000	0.85560	2.499000	0.84300	0.513000	0.50165	TCG	GRIA3	-	pfam_ANF_lig-bd_rcpt		0.453	GRIA3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA3	HGNC	protein_coding	OTTHUMT00000058854.1	C	NM_000828		122387169	+1	no_errors	ENST00000264357	ensembl	human	known	70_37	missense	SNP	1.000	T
GRM3	2913	genome.wustl.edu	37	7	86415790	86415790	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:86415790G>A	ENST00000361669.2	+	3	1781	c.682G>A	c.(682-684)Gag>Aag	p.E228K	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.E228K|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.E226K|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.E100K	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	228					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|axon (GO:0030424)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)					GACAGGGATCGAGGCCTTCGA	0.602																																					GBM(52;969 1098 3139 52280)												0													66.0	60.0	62.0					7																	86415790		2203	4300	6503	SO:0001583	missense	2913				CCDS5600.1	7q21.1-q21.2	2012-08-29			ENSG00000198822	ENSG00000198822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4595	protein-coding gene	gene with protein product		601115				8824806	Standard	NM_000840		Approved	GPRC1C, mGlu3, MGLUR3	uc003uid.3	Q14832	OTTHUMG00000022884	ENST00000361669.2:c.682G>A	7.37:g.86415790G>A	ENSP00000355316:p.Glu228Lys		Q2PNZ6|Q75MV4|Q75N17|Q86YG6|Q8TBH9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B	p.E228K	ENST00000361669.2	37	c.682	CCDS5600.1	7	.	.	.	.	.	.	.	.	.	.	G	33	5.235756	0.95240	.	.	ENSG00000198822	ENST00000361669;ENST00000454217;ENST00000536043;ENST00000439827;ENST00000394720	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.72	5.72	0.89469	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.92792	0.7708	M	0.74389	2.26	0.80722	D	1	D;D;D	0.76494	0.965;0.999;0.972	P;P;P	0.62089	0.506;0.898;0.639	D	0.93177	0.6571	10	0.87932	D	0	.	18.8634	0.92281	0.0:0.0:1.0:0.0	.	100;228;228	F5GYZ2;G5E9K2;Q14832	.;.;GRM3_HUMAN	K	228;100;100;228;226	ENSP00000355316:E228K;ENSP00000405427:E100K;ENSP00000441407:E100K;ENSP00000398767:E228K;ENSP00000378209:E226K	ENSP00000355316:E228K	E	+	1	0	GRM3	86253726	1.000000	0.71417	0.999000	0.59377	0.957000	0.61999	9.756000	0.98918	2.711000	0.92665	0.655000	0.94253	GAG	GRM3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.602	GRM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM3	HGNC	protein_coding	OTTHUMT00000253362.2	G			86415790	+1	no_errors	ENST00000361669	ensembl	human	known	70_37	missense	SNP	1.000	A
GRM7	2917	genome.wustl.edu	37	3	7678036	7678036	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:7678036C>T	ENST00000357716.4	+	9	2725				GRM7_ENST00000403881.1_Intron|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Intron|GRM7_ENST00000486284.1_Intron|GRM7_ENST00000389336.4_Intron	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						gacggggcctctgtcctattt	0.443																																																	0																																										SO:0001627	intron_variant	2917			U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2452-43700C>T	3.37:g.7678036C>T			Q8NFS2|Q8NFS3|Q8NFS4	RNA	SNP	-	NULL	ENST00000357716.4	37	NULL	CCDS43042.1	3																																																																																			GRM7	-	-		0.443	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRM7	HGNC	protein_coding	OTTHUMT00000246895.3	C	NM_000844		7678036	+1	no_errors	ENST00000458641	ensembl	human	known	70_37	rna	SNP	0.000	T
GSN	2934	genome.wustl.edu	37	9	124062204	124062204	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:124062204C>T	ENST00000373818.4	+	1	134	c.65C>T	c.(64-66)tCg>tTg	p.S22L	GSN_ENST00000412819.1_Intron|GSN_ENST00000545652.1_Intron|GSN_ENST00000373808.2_Intron|GSN_ENST00000373823.3_Intron|GSN_ENST00000449733.1_Intron|GSN_ENST00000341272.2_Intron|GSN_ENST00000436847.1_Intron|GSN_ENST00000394353.2_Intron	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	22			S -> L (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCGCGCTGTCGCTGCCCGTC	0.821																																																	0													1.0	1.0	1.0					9																	124062204		752	1323	2075	SO:0001583	missense	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.65C>T	9.37:g.124062204C>T	ENSP00000362924:p.Ser22Leu		A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Missense_Mutation	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.S22L	ENST00000373818.4	37	c.65	CCDS6828.1	9	.	.	.	.	.	.	.	.	.	.	C	21.4	4.149852	0.78001	.	.	ENSG00000148180	ENST00000373818	T	0.15834	2.39	4.24	4.24	0.50183	.	3.378830	0.00919	N	0.002575	T	0.11239	0.0274	N	0.08118	0	0.80722	D	1	B	0.32731	0.382	B	0.15052	0.012	T	0.17198	-1.0377	10	0.59425	D	0.04	-0.87	12.0266	0.53373	0.0:1.0:0.0:0.0	.	22	P06396	GELS_HUMAN	L	22	ENSP00000362924:S22L	ENSP00000362924:S22L	S	+	2	0	GSN	123102025	0.076000	0.21285	0.986000	0.45419	0.518000	0.34316	0.311000	0.19380	2.190000	0.69967	0.563000	0.77884	TCG	GSN	-	NULL		0.821	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	C	NM_000177		124062204	+1	no_errors	ENST00000373818	ensembl	human	known	70_37	missense	SNP	0.993	T
HAS2	3037	genome.wustl.edu	37	8	122626929	122626929	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:122626929C>T	ENST00000303924.4	-	4	1616	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q		NM_005328.2	NP_005319.1	Q92819	HYAS2_HUMAN	hyaluronan synthase 2	360					atrioventricular canal development (GO:0036302)|bone morphogenesis (GO:0060349)|cellular response to fluid shear stress (GO:0071498)|cellular response to interleukin-1 (GO:0071347)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|cellular response to tumor necrosis factor (GO:0071356)|endocardial cushion to mesenchymal transition (GO:0090500)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|hyaluronan biosynthetic process (GO:0030213)|kidney development (GO:0001822)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of monocyte aggregation (GO:1900625)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	hyaluronan synthase activity (GO:0050501)		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCATTCTCGGAAGTAGGA	0.433																																																	0													164.0	140.0	148.0					8																	122626929		2203	4300	6503	SO:0001583	missense	3037			U54804	CCDS6335.1	8q24.12	2013-02-22			ENSG00000170961	ENSG00000170961	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4819	protein-coding gene	gene with protein product		601636				9169154	Standard	NM_005328		Approved		uc003yph.2	Q92819	OTTHUMG00000164953	ENST00000303924.4:c.1079G>A	8.37:g.122626929C>T	ENSP00000306991:p.Arg360Gln		Q32MM3	Missense_Mutation	SNP	pfam_Chitin_synth_fng	p.R360Q	ENST00000303924.4	37	c.1079	CCDS6335.1	8	.	.	.	.	.	.	.	.	.	.	C	25.4	4.633980	0.87660	.	.	ENSG00000170961	ENST00000303924	T	0.60424	0.19	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	D	0.83161	0.5194	M	0.92459	3.31	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85882	0.1423	10	0.87932	D	0	-10.4387	20.5385	0.99246	0.0:1.0:0.0:0.0	.	360	Q92819	HAS2_HUMAN	Q	360	ENSP00000306991:R360Q	ENSP00000306991:R360Q	R	-	2	0	HAS2	122696110	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.801000	0.85960	2.863000	0.98299	0.549000	0.68633	CGA	HAS2	-	NULL		0.433	HAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAS2	HGNC	protein_coding	OTTHUMT00000381150.2	C	NM_005328		122626929	-1	no_errors	ENST00000303924	ensembl	human	known	70_37	missense	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62196064	62196064	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:62196064G>A	ENST00000467148.1	-	8	4180	c.4111C>T	c.(4111-4113)Cac>Tac	p.H1371Y	HELZ2_ENST00000427522.2_Missense_Mutation_p.H802Y	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1371					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCAGTGATGTGCACAGCCACC	0.672																																																	0													19.0	15.0	16.0					20																	62196064		2176	4290	6466	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.4111C>T	20.37:g.62196064G>A	ENSP00000417401:p.His1371Tyr		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.H1371Y	ENST00000467148.1	37	c.4111	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	G	17.18	3.323385	0.60634	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	T;T	0.51071	0.72;0.72	4.84	4.84	0.62591	Ribonuclease II/R (2);	0.100833	0.64402	D	0.000002	T	0.80544	0.4643	H	0.97440	4.005	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.88351	0.2981	10	0.87932	D	0	-39.4367	17.9349	0.89009	0.0:0.0:1.0:0.0	.	1371;802	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	Y	802;1371	ENSP00000393257:H802Y;ENSP00000417401:H1371Y	ENSP00000393257:H802Y	H	-	1	0	RP4-697K14.7	61666508	1.000000	0.71417	0.990000	0.47175	0.024000	0.10985	7.518000	0.81795	2.260000	0.74910	0.491000	0.48974	CAC	HELZ2	-	pfam_RNase_II/R,smart_RNase_II/R		0.672	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62196064	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	A
HIF1A	3091	genome.wustl.edu	37	14	62207503	62207503	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:62207503C>G	ENST00000337138.4	+	12	1955	c.1690C>G	c.(1690-1692)Ccc>Gcc	p.P564A	HIF1A_ENST00000557538.1_Missense_Mutation_p.P505A|HIF1A_ENST00000394997.1_Missense_Mutation_p.P565A|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Missense_Mutation_p.P564A|HIF1A_ENST00000539097.1_Missense_Mutation_p.P588A|RP11-618G20.1_ENST00000555937.1_RNA	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	564	C-terminal VHL recognition site.|NTAD.|ODD.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	GATGTTAGCTCCCTATATCCC	0.398																																																	0													148.0	140.0	143.0					14																	62207503		2203	4300	6503	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.1690C>G	14.37:g.62207503C>G	ENSP00000338018:p.Pro564Ala		C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.P588A	ENST00000337138.4	37	c.1762	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	C	27.7	4.859456	0.91433	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	D;D;D;D;D	0.99511	-6.05;-6.05;-6.05;-6.05;-6.05	6.02	6.02	0.97574	.	0.049167	0.85682	D	0.000000	D	0.99530	0.9832	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.99035	1.0822	10	0.87932	D	0	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	565;564;564	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	A	315;505;564;565;564;505;588	ENSP00000338018:P564A;ENSP00000378446:P565A;ENSP00000323326:P564A;ENSP00000451696:P505A;ENSP00000437955:P588A	ENSP00000323326:P564A	P	+	1	0	HIF1A	61277256	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	7.814000	0.86154	2.857000	0.98124	0.650000	0.86243	CCC	HIF1A	-	pfam_HIF_alpha_subunit		0.398	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	C	NM_001530		62207503	+1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	G
HIP1	3092	genome.wustl.edu	37	7	75172205	75172205	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:75172205G>A	ENST00000336926.6	-	28	2881	c.2855C>T	c.(2854-2856)tCa>tTa	p.S952L	HIP1_ENST00000434438.2_Missense_Mutation_p.S901L	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	952	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell differentiation (GO:0030154)|clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|positive regulation of receptor-mediated endocytosis (GO:0048260)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	clathrin-coated vesicle (GO:0030136)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	clathrin binding (GO:0030276)|phosphatidylinositol binding (GO:0035091)|structural constituent of cytoskeleton (GO:0005200)			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGAAATGGTTGAGGCCACAAC	0.562			T	PDGFRB	CMML																																			Dom	yes		7	7q11.23	3092	huntingtin interacting protein 1		L	0													94.0	88.0	90.0					7																	75172205		2203	4300	6503	SO:0001583	missense	3092			AF052288	CCDS34669.1, CCDS59060.1	7q11.23	2008-07-18			ENSG00000127946	ENSG00000127946			4913	protein-coding gene	gene with protein product		601767				9140394, 9147654	Standard	NM_005338		Approved	ILWEQ	uc003uds.2	O00291	OTTHUMG00000156050	ENST00000336926.6:c.2855C>T	7.37:g.75172205G>A	ENSP00000336747:p.Ser952Leu		B4E3I7|E7ES17|O00328|Q2TB58|Q8TDL4	Missense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S952L	ENST00000336926.6	37	c.2855	CCDS34669.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.391854	0.95988	.	.	ENSG00000127946	ENST00000336926;ENST00000434438	T;T	0.33216	1.42;1.42	5.19	5.19	0.71726	I/LWEQ (4);	0.000000	0.85682	D	0.000000	T	0.58206	0.2106	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.77557	0.99;0.971	T	0.63116	-0.6709	10	0.72032	D	0.01	-8.4622	17.2959	0.87170	0.0:0.0:1.0:0.0	.	901;952	E7ES17;O00291	.;HIP1_HUMAN	L	952;901	ENSP00000336747:S952L;ENSP00000410300:S901L	ENSP00000336747:S952L	S	-	2	0	HIP1	75010141	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.398000	0.97281	2.415000	0.81967	0.563000	0.77884	TCA	HIP1	-	pfam_ILWEQ,smart_ILWEQ,pfscan_ILWEQ		0.562	HIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1	HGNC	protein_coding	OTTHUMT00000342863.2	G	NM_005338		75172205	-1	no_errors	ENST00000336926	ensembl	human	known	70_37	missense	SNP	1.000	A
HIVEP3	59269	genome.wustl.edu	37	1	42049029	42049029	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:42049029C>G	ENST00000372583.1	-	4	2325	c.1440G>C	c.(1438-1440)gaG>gaC	p.E480D	HIVEP3_ENST00000247584.5_Missense_Mutation_p.E480D|HIVEP3_ENST00000429157.2_Missense_Mutation_p.E480D|HIVEP3_ENST00000372584.1_Missense_Mutation_p.E480D	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	480	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				CGCTGTCGATCTCGCTGGTGT	0.612																																																	0													82.0	77.0	79.0					1																	42049029		2203	4300	6503	SO:0001583	missense	59269			AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1440G>C	1.37:g.42049029C>G	ENSP00000361664:p.Glu480Asp		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E480D	ENST00000372583.1	37	c.1440	CCDS463.1	1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.719584	0.48728	.	.	ENSG00000127124	ENST00000372584;ENST00000372583;ENST00000247584;ENST00000429157	T;T;T;T	0.23552	1.9;1.9;1.9;1.9	4.82	3.89	0.44902	.	0.000000	0.52532	D	0.000066	T	0.41190	0.1148	L	0.53249	1.67	0.40511	D	0.980739	D;D	0.76494	0.999;0.999	D;P	0.66497	0.944;0.88	T	0.23297	-1.0192	10	0.54805	T	0.06	-1.0794	11.2249	0.48877	0.0:0.8545:0.0:0.1455	.	480;480	Q5T1R4-2;Q5T1R4	.;ZEP3_HUMAN	D	480	ENSP00000361665:E480D;ENSP00000361664:E480D;ENSP00000247584:E480D;ENSP00000410828:E480D	ENSP00000247584:E480D	E	-	3	2	HIVEP3	41821616	0.999000	0.42202	1.000000	0.80357	0.746000	0.42486	0.623000	0.24447	2.514000	0.84764	0.561000	0.74099	GAG	HIVEP3	-	NULL		0.612	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HIVEP3	HGNC	protein_coding	OTTHUMT00000016978.1	C	NM_024503		42049029	-1	no_errors	ENST00000247584	ensembl	human	known	70_37	missense	SNP	1.000	G
HLA-DRB6	3128	genome.wustl.edu	37	6	32522591	32522591	+	RNA	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:32522591C>G	ENST00000411500.1	-	0	615					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		CATTCTGGATCAGGCCTATGG	0.542																																																	0																																												3128			L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522591C>G				RNA	SNP	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			HLA-DRB6	-	-		0.542	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	HGNC	pseudogene	OTTHUMT00000272900.1	C	NR_001298		32522591	-1	no_errors	ENST00000411500	ensembl	human	known	70_37	rna	SNP	0.999	G
HMGA1	3159	genome.wustl.edu	37	6	34210518	34210518	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:34210518G>C	ENST00000447654.1	+	3	654	c.165G>C	c.(163-165)aaG>aaC	p.K55N	HMGA1_ENST00000401473.3_Missense_Mutation_p.K44N|HMGA1_ENST00000311487.5_Missense_Mutation_p.K55N|HMGA1_ENST00000478214.1_3'UTR|HMGA1_ENST00000347617.6_Missense_Mutation_p.K44N|HMGA1_ENST00000395004.3_Missense_Mutation_p.K55N|HMGA1_ENST00000374116.3_Missense_Mutation_p.K44N	NM_145901.2|NM_145902.2	NP_665908.1|NP_665909.1	P17096	HMGA1_HUMAN	high mobility group AT-hook 1	55	Interaction with HIPK2. {ECO:0000250}.				base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA unwinding involved in DNA replication (GO:0006268)|establishment of integrated proviral latency (GO:0075713)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chromatin silencing (GO:0031936)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome disassembly (GO:0006337)|oncogene-induced cell senescence (GO:0090402)|positive regulation of cellular senescence (GO:2000774)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)|transcription factor complex (GO:0005667)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|enzyme binding (GO:0019899)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			lung(1)	1						CAACACCTAAGAGACCTCGGG	0.572			T	?	"""microfollicular thyroid adenoma,  various benign mesenchymal tumors,"""																																			Dom	yes		6	6p21	3159	high mobility group AT-hook 1		"""E, M"""	0													49.0	42.0	45.0					6																	34210518		2197	4289	6486	SO:0001583	missense	3159			AF176039	CCDS4788.1, CCDS4789.1	6p21	2011-07-01	2002-07-25	2002-07-26	ENSG00000137309	ENSG00000137309		"""High-mobility group / Canonical"""	5010	protein-coding gene	gene with protein product		600701	"""high-mobility group (nonhistone chromosomal) protein isoforms I and Y"""	HMGIY		8414980, 11406267	Standard	NM_145903		Approved		uc011dso.2	P17096	OTTHUMG00000014539	ENST00000447654.1:c.165G>C	6.37:g.34210518G>C	ENSP00000399888:p.Lys55Asn		P10910|Q5T6U9|Q9UKB0	Missense_Mutation	SNP	prints_HMGI/HMGY,prints_AT_hook-like	p.K55N	ENST00000447654.1	37	c.165	CCDS4789.1	6	.	.	.	.	.	.	.	.	.	.	G	16.00	2.998739	0.54147	.	.	ENSG00000137309	ENST00000311487;ENST00000401473;ENST00000347617;ENST00000327014;ENST00000357318;ENST00000447654;ENST00000395004;ENST00000374116	T;T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19;1.19	4.6	3.71	0.42584	HMG-I/HMG-Y, DNA-binding, conserved site (1);AT hook, DNA-binding motif (2);	0.000000	0.56097	D	0.000035	T	0.29458	0.0734	L	0.58510	1.815	0.37852	D	0.929404	P;B;B;B	0.46142	0.873;0.007;0.009;0.002	P;B;B;B	0.50352	0.638;0.001;0.001;0.001	T	0.06899	-1.0801	10	0.41790	T	0.15	.	10.0453	0.42184	0.0:0.0:0.7987:0.2013	.	55;44;44;55	B4DWA0;P17096-2;Q5T6U8;P17096	.;.;.;HMGA1_HUMAN	N	55;44;44;44;55;55;55;44	ENSP00000308227:K55N;ENSP00000385693:K44N;ENSP00000288245:K44N;ENSP00000399888:K55N;ENSP00000378452:K55N;ENSP00000363230:K44N	ENSP00000308227:K55N	K	+	3	2	HMGA1	34318496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.194000	0.58393	1.250000	0.43966	0.655000	0.94253	AAG	HMGA1	-	prints_HMGI/HMGY,prints_AT_hook-like		0.572	HMGA1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGA1	HGNC	protein_coding	OTTHUMT00000040214.2	G	NM_145899		34210518	+1	no_errors	ENST00000395004	ensembl	human	known	70_37	missense	SNP	1.000	C
HOXC10	3226	genome.wustl.edu	37	12	54379697	54379697	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:54379697G>T	ENST00000303460.4	+	1	728	c.654G>T	c.(652-654)caG>caT	p.Q218H	HOXC-AS3_ENST00000509870.1_RNA|HOXC-AS3_ENST00000513165.1_RNA|HOXC-AS3_ENST00000514702.1_RNA|HOXC-AS3_ENST00000567780.1_RNA|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.Q23H	NM_017409.3	NP_059105.2	Q9NYD6	HXC10_HUMAN	homeobox C10	218					anterior/posterior pattern specification (GO:0009952)|embryonic limb morphogenesis (GO:0030326)|neuromuscular process (GO:0050905)|positive regulation of cell proliferation (GO:0008284)|proximal/distal pattern formation (GO:0009954)|regulation of transcription, DNA-templated (GO:0006355)|skeletal system development (GO:0001501)|spinal cord motor neuron cell fate specification (GO:0021520)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(3)|lung(14)|pancreas(1)	20						AGACGGAGCAGAGCCTGGCGG	0.602																																																	0													22.0	27.0	25.0					12																	54379697		2202	4297	6499	SO:0001583	missense	3226				CCDS8868.1	12q13.13	2011-06-20	2005-12-22		ENSG00000180818	ENSG00000180818		"""Homeoboxes / ANTP class : HOXL subclass"""	5122	protein-coding gene	gene with protein product		605560	"""homeo box C10"""	HOX3I		1358459	Standard	NM_017409		Approved		uc001sen.3	Q9NYD6	OTTHUMG00000160031	ENST00000303460.4:c.654G>T	12.37:g.54379697G>T	ENSP00000307321:p.Gln218His		O15219|O15220|Q9BVD5	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.Q218H	ENST00000303460.4	37	c.654	CCDS8868.1	12	.	.	.	.	.	.	.	.	.	.	G	13.91	2.379137	0.42207	.	.	ENSG00000180818	ENST00000515593;ENST00000303460	D	0.91996	-2.95	4.23	2.33	0.28932	.	0.482456	0.22264	N	0.062367	D	0.83640	0.5298	L	0.29908	0.895	0.80722	D	1	B	0.15719	0.014	B	0.08055	0.003	T	0.74293	-0.3712	10	0.45353	T	0.12	.	4.0925	0.09976	0.302:0.1987:0.4993:0.0	.	218	Q9NYD6	HXC10_HUMAN	H	106;218	ENSP00000307321:Q218H	ENSP00000307321:Q218H	Q	+	3	2	HOXC10	52665964	0.889000	0.30405	1.000000	0.80357	0.992000	0.81027	0.065000	0.14466	0.467000	0.27218	0.561000	0.74099	CAG	HOXC10	-	NULL		0.602	HOXC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC10	HGNC	protein_coding	OTTHUMT00000358952.2	G			54379697	+1	no_errors	ENST00000303460	ensembl	human	known	70_37	missense	SNP	1.000	T
HPS3	84343	genome.wustl.edu	37	3	148880529	148880529	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:148880529G>T	ENST00000296051.2	+	13	2485	c.2345G>T	c.(2344-2346)tGg>tTg	p.W782L	HPS3_ENST00000460120.1_Missense_Mutation_p.W617L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	782					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)		p.W782L(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTAGACTTTTGGGAAGCTCAG	0.418									Hermansky-Pudlak syndrome																																								1	Substitution - Missense(1)	kidney(1)											146.0	144.0	145.0					3																	148880529		2203	4300	6503	SO:0001583	missense	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.2345G>T	3.37:g.148880529G>T	ENSP00000296051:p.Trp782Leu		A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Missense_Mutation	SNP	pirsf_BLOC-2_complex_Hps3_subunit	p.W782L	ENST00000296051.2	37	c.2345	CCDS3140.1	3	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887278	0.72410	.	.	ENSG00000163755	ENST00000296051;ENST00000460120	T;T	0.67865	-0.28;-0.29	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.74366	0.3707	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66771	-0.5839	10	0.17369	T	0.5	-13.5037	20.1911	0.98230	0.0:0.0:1.0:0.0	.	617;782	G5E9V4;Q969F9	.;HPS3_HUMAN	L	782;617	ENSP00000296051:W782L;ENSP00000418230:W617L	ENSP00000296051:W782L	W	+	2	0	HPS3	150363219	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	8.103000	0.89550	2.779000	0.95612	0.563000	0.77884	TGG	HPS3	-	pirsf_BLOC-2_complex_Hps3_subunit		0.418	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	G	NM_032383		148880529	+1	no_errors	ENST00000296051	ensembl	human	known	70_37	missense	SNP	1.000	T
HRNR	388697	genome.wustl.edu	37	1	152186120	152186120	+	Missense_Mutation	SNP	A	A	G	rs79071169		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:152186120A>G	ENST00000368801.2	-	3	8060	c.7985T>C	c.(7984-7986)tTg>tCg	p.L2662S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2662					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCAAACCGGACCC	0.627																																																	0													2.0	1.0	2.0					1																	152186120		633	1341	1974	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7985T>C	1.37:g.152186120A>G	ENSP00000357791:p.Leu2662Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.L2662S	ENST00000368801.2	37	c.7985	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	G	5.729	0.318895	0.10845	.	.	ENSG00000197915	ENST00000368801	T	0.01474	4.85	3.38	1.38	0.22167	.	.	.	.	.	T	0.00178	0.0005	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.06099	T	0.92	.	6.3342	0.21287	0.5018:0.0:0.4982:0.0	.	2662	Q86YZ3	HORN_HUMAN	S	2662	ENSP00000357791:L2662S	ENSP00000357791:L2662S	L	-	2	0	HRNR	150452744	0.002000	0.14202	0.000000	0.03702	0.001000	0.01503	0.670000	0.25157	-0.044000	0.13491	-0.307000	0.09154	TTG	HRNR	-	NULL		0.627	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	A	XM_373868		152186120	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	G
HS3ST3A1	9955	genome.wustl.edu	37	17	13399936	13399936	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:13399936C>T	ENST00000284110.1	-	2	1596	c.799G>A	c.(799-801)Gag>Aag	p.E267K	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.E65K	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	267					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity (GO:0033872)|sulfotransferase activity (GO:0008146)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCAAGCTCTCGAAGGTGGGG	0.627																																																	0													5.0	7.0	6.0					17																	13399936		1871	3849	5720	SO:0001583	missense	9955			AF105376	CCDS11165.1	17p12	2007-04-02			ENSG00000153976	ENSG00000153976	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5196	protein-coding gene	gene with protein product		604057				9988767	Standard	NM_006042		Approved	3OST3A1, 30ST3A1	uc002gob.1	Q9Y663	OTTHUMG00000058768	ENST00000284110.1:c.799G>A	17.37:g.13399936C>T	ENSP00000284110:p.Glu267Lys		A8K7N2	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E267K	ENST00000284110.1	37	c.799	CCDS11165.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.319936	0.95682	.	.	ENSG00000153976	ENST00000284110	D	0.84730	-1.89	5.32	5.32	0.75619	Sulfotransferase domain (1);	0.000000	0.85682	U	0.000000	D	0.90896	0.7139	M	0.90019	3.08	0.80722	D	1	P	0.50272	0.933	P	0.47744	0.556	D	0.92427	0.5950	10	0.66056	D	0.02	.	19.4836	0.95020	0.0:1.0:0.0:0.0	.	267	Q9Y663	HS3SA_HUMAN	K	267	ENSP00000284110:E267K	ENSP00000284110:E267K	E	-	1	0	HS3ST3A1	13340661	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	5.921000	0.70028	2.873000	0.98535	0.563000	0.77884	GAG	HS3ST3A1	-	pfam_Sulfotransferase_dom		0.627	HS3ST3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST3A1	HGNC	protein_coding	OTTHUMT00000129952.1	C	NM_006042		13399936	-1	no_errors	ENST00000284110	ensembl	human	known	70_37	missense	SNP	1.000	T
HS3ST5	222537	genome.wustl.edu	37	6	114378975	114378975	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:114378975C>G	ENST00000312719.5	-	5	1675	c.487G>C	c.(487-489)Gag>Cag	p.E163Q	RP3-399L15.3_ENST00000519270.1_RNA|HS3ST5_ENST00000411826.1_Missense_Mutation_p.E163Q|RP3-399L15.3_ENST00000523087.1_RNA|RP3-399L15.3_ENST00000519104.1_RNA			Q8IZT8	HS3S5_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 5	163					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|negative regulation of coagulation (GO:0050819)|protein sulfation (GO:0006477)|regulation of viral entry into host cell (GO:0046596)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(4)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	41		all_cancers(87;0.0587)|Colorectal(196;0.0676)|all_epithelial(87;0.154)		OV - Ovarian serous cystadenocarcinoma(136;0.00937)|all cancers(137;0.0117)|Epithelial(106;0.0274)|GBM - Glioblastoma multiforme(226;0.143)		GGAACCTCCTCTGTGATAAAA	0.393																																																	0													148.0	152.0	150.0					6																	114378975		2203	4300	6503	SO:0001583	missense	222537			AF503292	CCDS34517.1	6q21	2011-11-16			ENSG00000249853	ENSG00000249853		"""Sulfotransferases, membrane-bound"""	19419	protein-coding gene	gene with protein product		609407				12138164	Standard	NM_153612		Approved	3-OST-5	uc003pwg.4	Q8IZT8	OTTHUMG00000015412	ENST00000312719.5:c.487G>C	6.37:g.114378975C>G	ENSP00000427888:p.Glu163Gln		A8K1J2|Q52LI2|Q8N285	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.E163Q	ENST00000312719.5	37	c.487	CCDS34517.1	6	.	.	.	.	.	.	.	.	.	.	C	8.244	0.807397	0.16467	.	.	ENSG00000249853	ENST00000312719;ENST00000411826	T;T	0.55052	0.54;0.54	5.92	5.92	0.95590	Sulfotransferase domain (1);	0.049231	0.85682	D	0.000000	T	0.31104	0.0786	L	0.33753	1.03	0.49582	D	0.999807	B	0.28760	0.221	B	0.25140	0.058	T	0.09143	-1.0688	10	0.24483	T	0.36	.	20.3214	0.98679	0.0:1.0:0.0:0.0	.	163	Q8IZT8	HS3S5_HUMAN	Q	163	ENSP00000427888:E163Q;ENSP00000440332:E163Q	ENSP00000427888:E163Q	E	-	1	0	HS3ST5	114485668	1.000000	0.71417	0.969000	0.41365	0.972000	0.66771	4.815000	0.62634	2.804000	0.96469	0.655000	0.94253	GAG	HS3ST5	-	pfam_Sulfotransferase_dom		0.393	HS3ST5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HS3ST5	HGNC	protein_coding	OTTHUMT00000041911.2	C	NM_153612		114378975	-1	no_errors	ENST00000312719	ensembl	human	known	70_37	missense	SNP	0.998	G
HSD17B1	3292	genome.wustl.edu	37	17	40706695	40706695	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:40706695C>T	ENST00000585807.1	+	6	4446	c.726C>T	c.(724-726)ctC>ctT	p.L242L	HSD17B1_ENST00000225929.5_Silent_p.L243L|RP11-400F19.8_ENST00000585572.1_RNA|RP11-400F19.6_ENST00000590513.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	242					bone development (GO:0060348)|cellular response to metal ion (GO:0071248)|estrogen biosynthetic process (GO:0006703)|estrogen metabolic process (GO:0008210)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|estradiol 17-beta-dehydrogenase activity (GO:0004303)			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Equilin(DB02187)	AGGTCTTCCTCACCGCTTTGC	0.731																																																	0													16.0	19.0	18.0					17																	40706695		2199	4288	6487	SO:0001819	synonymous_variant	3292				CCDS11428.1	17q11-q21	2011-09-14					1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	5210	protein-coding gene	gene with protein product	"""Estradiol 17-beta-dehydrogenase-1"", ""short chain dehydrogenase/reductase family 28CE, member 1"""	109684		EDHB17, EDH17B2		2330005, 19027726	Standard	NM_000413		Approved	HSD17, MGC138140, SDR28C1	uc002hzw.3	P14061		ENST00000585807.1:c.726C>T	17.37:g.40706695C>T			B3KXS1|Q2M2L8	Silent	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR	p.L242	ENST00000585807.1	37	c.726	CCDS11428.1	17																																																																																			HSD17B1	-	pirsf_17beta_DH		0.731	HSD17B1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HSD17B1	HGNC	protein_coding	OTTHUMT00000450392.1	C	NM_000413		40706695	+1	no_errors	ENST00000585807	ensembl	human	known	70_37	silent	SNP	0.101	T
IGSF1	3547	genome.wustl.edu	37	X	130412691	130412691	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:130412691C>T	ENST00000361420.3	-	12	1864	c.1785G>A	c.(1783-1785)tgG>tgA	p.W595*	IGSF1_ENST00000370904.1_Nonsense_Mutation_p.W586*|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370910.1_Nonsense_Mutation_p.W586*|IGSF1_ENST00000370903.3_Nonsense_Mutation_p.W600*			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	595	Ig-like C2-type 6.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TGGTCTCTGCCCACAGCTCAG	0.537																																																	0													65.0	65.0	65.0					X																	130412691		2203	4297	6500	SO:0001587	stop_gained	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.1785G>A	X.37:g.130412691C>T	ENSP00000355010:p.Trp595*		B5MEG2|H9KV64|O15070|Q9NTC8	Nonsense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.W600*	ENST00000361420.3	37	c.1800	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	c	37	6.156829	0.97334	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	.	.	.	5.09	4.16	0.48862	.	0.763456	0.11688	N	0.539176	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9108	0.41403	0.0:0.7979:0.2021:0.0	.	.	.	.	X	586;595;586;600	.	ENSP00000355010:W595X	W	-	3	0	IGSF1	130240372	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.166000	0.42406	2.262000	0.75019	0.597000	0.82753	TGG	IGSF1	-	NULL		0.537	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	C			130412691	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	nonsense	SNP	1.000	T
INTS5	80789	genome.wustl.edu	37	11	62414999	62414999	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:62414999G>A	ENST00000330574.2	-	2	2605	c.2553C>T	c.(2551-2553)ttC>ttT	p.F851F	GANAB_ENST00000356638.3_5'Flank|GANAB_ENST00000346178.4_5'Flank|GANAB_ENST00000540933.1_5'Flank|GANAB_ENST00000534779.1_5'Flank	NM_030628.1	NP_085131.1	Q6P9B9	INT5_HUMAN	integrator complex subunit 5	851					snRNA processing (GO:0016180)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						GCTGTTCGCGGAAGCGCCGGC	0.677																																																	0													31.0	36.0	34.0					11																	62414999		2198	4294	6492	SO:0001819	synonymous_variant	80789			AK123587	CCDS8027.1	11q12.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000185085	ENSG00000185085			29352	protein-coding gene	gene with protein product		611349	"""KIAA1698"""	KIAA1698		16239144	Standard	NM_030628		Approved	INT5	uc001nud.3	Q6P9B9	OTTHUMG00000167605	ENST00000330574.2:c.2553C>T	11.37:g.62414999G>A			Q8N6W5|Q9C0G5	Silent	SNP	NULL	p.F851	ENST00000330574.2	37	c.2553	CCDS8027.1	11																																																																																			INTS5	-	NULL		0.677	INTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS5	HGNC	protein_coding	OTTHUMT00000395327.1	G	NM_030628		62414999	-1	no_errors	ENST00000330574	ensembl	human	known	70_37	silent	SNP	1.000	A
IQCG	84223	genome.wustl.edu	37	3	197619502	197619502	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:197619502C>T	ENST00000265239.6	-	10	1516	c.1092G>A	c.(1090-1092)aaG>aaA	p.K364K	RNU6-858P_ENST00000362436.1_RNA|IQCG_ENST00000455191.1_Silent_p.K364K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	364						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TCCTTACCATCTTTGCCAGGT	0.468																																																	0													352.0	319.0	330.0					3																	197619502		2203	4300	6503	SO:0001819	synonymous_variant	84223			AL136889	CCDS3331.1	3q29	2014-07-18			ENSG00000114473	ENSG00000114473			25251	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 9"""	612477				11230166, 23427265, 24362311	Standard	NM_032263		Approved	DKFZp434B227, DRC9, CFAP122	uc003fyo.3	Q9H095	OTTHUMG00000155408	ENST00000265239.6:c.1092G>A	3.37:g.197619502C>T			Q9BST2|Q9HAG8	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.K364	ENST00000265239.6	37	c.1092	CCDS3331.1	3																																																																																			IQCG	-	NULL		0.468	IQCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCG	HGNC	protein_coding	OTTHUMT00000339730.1	C	NM_032263		197619502	-1	no_errors	ENST00000265239	ensembl	human	known	70_37	silent	SNP	0.000	T
IQGAP1	8826	genome.wustl.edu	37	15	90972868	90972868	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:90972868G>C	ENST00000268182.5	+	4	484	c.360G>C	c.(358-360)ttG>ttC	p.L120F	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	120	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCAGTGGTTGAATGCCATGG	0.383																																																	0													182.0	165.0	171.0					15																	90972868		2198	4298	6496	SO:0001583	missense	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.360G>C	15.37:g.90972868G>C	ENSP00000268182:p.Leu120Phe		A7MBM3	Missense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,pfam_WW_Rsp5_WWP,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,smart_CH-domain,smart_WW_Rsp5_WWP,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.L120F	ENST00000268182.5	37	c.360	CCDS10362.1	15	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032598	0.75504	.	.	ENSG00000140575	ENST00000268182	T	0.56611	0.45	5.34	5.34	0.76211	Calponin homology domain (5);	0.000000	0.64402	D	0.000006	T	0.47563	0.1452	L	0.28740	0.885	0.80722	D	1	P	0.50819	0.939	P	0.53861	0.736	T	0.25984	-1.0116	10	0.10902	T	0.67	-13.6131	9.7753	0.40614	0.1539:0.0:0.8461:0.0	.	120	P46940	IQGA1_HUMAN	F	120	ENSP00000268182:L120F	ENSP00000268182:L120F	L	+	3	2	IQGAP1	88773872	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.500000	0.45381	2.776000	0.95493	0.650000	0.86243	TTG	IQGAP1	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.383	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP1	HGNC	protein_coding	OTTHUMT00000313493.1	G	NM_003870		90972868	+1	no_errors	ENST00000268182	ensembl	human	known	70_37	missense	SNP	1.000	C
IRAK1BP1	134728	genome.wustl.edu	37	6	79577322	79577322	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:79577322G>C	ENST00000369940.2	+	1	134	c.29G>C	c.(28-30)cGa>cCa	p.R10P		NM_001010844.2	NP_001010844.1	Q5VVH5	IKBP1_HUMAN	interleukin-1 receptor-associated kinase 1 binding protein 1	10	Intrinsically disordered.				I-kappaB kinase/NF-kappaB signaling (GO:0007249)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(3)	12		all_cancers(76;0.0398)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)		BRCA - Breast invasive adenocarcinoma(397;0.21)		CCTCCGACCCGAGTGTTCGTG	0.637																																																	0													83.0	89.0	87.0					6																	79577322		2203	4300	6503	SO:0001583	missense	134728			AI478629	CCDS34488.1	6q14-q15	2006-04-12				ENSG00000146243			17368	protein-coding gene	gene with protein product		615375				11096118	Standard	XM_005248654		Approved	AIP70, SIMPL	uc003pim.4	Q5VVH5		ENST00000369940.2:c.29G>C	6.37:g.79577322G>C	ENSP00000358956:p.Arg10Pro			Missense_Mutation	SNP	pfam_DUF541	p.R10P	ENST00000369940.2	37	c.29	CCDS34488.1	6	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605366	0.66445	.	.	ENSG00000146243	ENST00000369940	.	.	.	4.35	4.35	0.52113	.	0.000000	0.64402	D	0.000001	T	0.54431	0.1858	L	0.34521	1.04	0.43617	D	0.995991	D	0.76494	0.999	D	0.85130	0.997	T	0.53704	-0.8401	8	.	.	.	-5.9284	12.2385	0.54528	0.0:0.0:1.0:0.0	.	10	Q5VVH5	IKBP1_HUMAN	P	10	.	.	R	+	2	0	IRAK1BP1	79634041	1.000000	0.71417	0.958000	0.39756	0.577000	0.36160	5.202000	0.65169	2.225000	0.72522	0.561000	0.74099	CGA	IRAK1BP1	-	NULL		0.637	IRAK1BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1BP1	HGNC	protein_coding	OTTHUMT00000041296.2	G	XM_059729		79577322	+1	no_errors	ENST00000369940	ensembl	human	known	70_37	missense	SNP	0.987	C
ITGB7	3695	genome.wustl.edu	37	12	53589846	53589846	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:53589846G>C	ENST00000267082.5	-	7	1185	c.954C>G	c.(952-954)ctC>ctG	p.L318L	ITGB7_ENST00000550743.2_Silent_p.L318L|ITGB7_ENST00000422257.3_Silent_p.L318L|ITGB7_ENST00000338737.4_Silent_p.L318L	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	318	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCGACTGTAGAGGCCATTGC	0.552																																																	0													106.0	97.0	100.0					12																	53589846		2203	4300	6503	SO:0001819	synonymous_variant	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.954C>G	12.37:g.53589846G>C			Q9UCP7|Q9UCS7	Silent	SNP	pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Plexin-like_fold,superfamily_Integrin_bsu_tail,smart_Plexin-like,smart_Integrin_bsu_N,pirsf_Integrin_bsu,prints_Integrin_bsu	p.L318	ENST00000267082.5	37	c.954	CCDS8849.1	12																																																																																			ITGB7	-	pfam_Integrin_bsu_N,smart_Integrin_bsu_N,pirsf_Integrin_bsu		0.552	ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB7	HGNC	protein_coding	OTTHUMT00000405821.2	G			53589846	-1	no_errors	ENST00000267082	ensembl	human	known	70_37	silent	SNP	1.000	C
ITIH1	3697	genome.wustl.edu	37	3	52825555	52825555	+	Silent	SNP	T	T	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:52825555T>G	ENST00000273283.2	+	21	2541	c.2517T>G	c.(2515-2517)ggT>ggG	p.G839G	ITIH1_ENST00000537050.1_Silent_p.G551G|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Silent_p.G697G|ITIH1_ENST00000405128.3_Silent_p.G205G	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	839	Hyaluronan-binding.				hyaluronan metabolic process (GO:0030212)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACCCCATCGGTTTTGAAGTGT	0.592																																																	0													88.0	85.0	86.0					3																	52825555		2203	4300	6503	SO:0001819	synonymous_variant	3697				CCDS2864.1, CCDS54595.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055957	ENSG00000055957			6166	protein-coding gene	gene with protein product		147270	"""inter-alpha (globulin) inhibitor, H1 polypeptide"""			1385302, 10100603	Standard	NM_002215		Approved	H1P, IATIH, ITIH	uc003dfs.3	P19827	OTTHUMG00000150312	ENST00000273283.2:c.2517T>G	3.37:g.52825555T>G			A8K9N5|B2RAH9|B7Z558|B7Z8C0|F5H165|F5H7Y8|P78455|Q01746|Q562G1	Silent	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,superfamily_PsdUridine_synth_cat_dom,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.G839	ENST00000273283.2	37	c.2517	CCDS2864.1	3																																																																																			ITIH1	-	pfam_ITI_HC_C		0.592	ITIH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH1	HGNC	protein_coding	OTTHUMT00000317522.1	T	NM_002215		52825555	+1	no_errors	ENST00000273283	ensembl	human	known	70_37	silent	SNP	0.869	G
JAKMIP2	9832	genome.wustl.edu	37	5	147040859	147040859	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:147040859G>C	ENST00000265272.5	-	3	746	c.279C>G	c.(277-279)atC>atG	p.I93M	JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I93M|JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I51M	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	93						Golgi apparatus (GO:0005794)				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGCTTGATAAGGTTCT	0.562																																																	0													193.0	178.0	183.0					5																	147040859		2203	4300	6503	SO:0001583	missense	9832			AB011127	CCDS4285.1, CCDS59495.1, CCDS64284.1, CCDS75352.1	5q32	2009-08-13	2009-08-13		ENSG00000176049	ENSG00000176049			29067	protein-coding gene	gene with protein product		611197				9628581	Standard	NM_001270941		Approved	JAMIP2, KIAA0555	uc010jgo.2	Q96AA8	OTTHUMG00000129731	ENST00000265272.5:c.279C>G	5.37:g.147040859G>C	ENSP00000265272:p.Ile93Met		A4ZZA7|A8K5G5|B4DSG0|G5E9Y0|O60302|Q548S1	Missense_Mutation	SNP	NULL	p.I93M	ENST00000265272.5	37	c.279	CCDS4285.1	5	.	.	.	.	.	.	.	.	.	.	G	14.26	2.481755	0.44147	.	.	ENSG00000176049	ENST00000507386;ENST00000265272;ENST00000333010;ENST00000539401	T;T;T	0.37752	1.18;1.18;1.18	4.67	3.79	0.43588	.	0.048908	0.85682	D	0.000000	T	0.33381	0.0861	L	0.52573	1.65	0.37453	D	0.914883	P;D;D;P	0.54207	0.936;0.965;0.965;0.936	B;B;B;B	0.41946	0.371;0.371;0.371;0.371	T	0.41645	-0.9497	10	0.45353	T	0.12	.	13.2515	0.60053	0.0787:0.0:0.9213:0.0	.	51;93;93;93	B4DSG0;Q96AA8-3;G5E9Y0;Q96AA8	.;.;.;JKIP2_HUMAN	M	93;93;51;93	ENSP00000421398:I93M;ENSP00000265272:I93M;ENSP00000328989:I51M	ENSP00000265272:I93M	I	-	3	3	JAKMIP2	147021052	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	1.939000	0.40213	1.269000	0.44280	0.563000	0.77884	ATC	JAKMIP2	-	NULL		0.562	JAKMIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAKMIP2	HGNC	protein_coding	OTTHUMT00000251941.1	G	NM_014790		147040859	-1	no_errors	ENST00000265272	ensembl	human	known	70_37	missense	SNP	1.000	C
JMJD7	100137047	genome.wustl.edu	37	15	42127259	42127259	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:42127259G>T	ENST00000397299.4	+	3	350	c.310G>T	c.(310-312)Gag>Tag	p.E104*	PLA2G4B_ENST00000542534.2_Nonsense_Mutation_p.E104*|JMJD7-PLA2G4B_ENST00000476036.1_3'UTR|PLA2G4B_ENST00000452633.1_5'Flank|JMJD7-PLA2G4B_ENST00000342159.4_Nonsense_Mutation_p.E104*|JMJD7_ENST00000408047.1_Nonsense_Mutation_p.E5*|JMJD7-PLA2G4B_ENST00000382448.4_Nonsense_Mutation_p.E104*	NM_001114632.1	NP_001108104.1	P0C870	JMJD7_HUMAN	jumonji domain containing 7	104										NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	8						GATGCCAGCTGAGCGCCGCCT	0.637																																																	0													86.0	89.0	88.0					15																	42127259		2203	4300	6503	SO:0001587	stop_gained	8681				CCDS45240.1	15q15.1	2011-02-10			ENSG00000243789	ENSG00000243789			34397	protein-coding gene	gene with protein product							Standard	NM_001114632		Approved			P0C870	OTTHUMG00000156810	ENST00000397299.4:c.310G>T	15.37:g.42127259G>T	ENSP00000380467:p.Glu104*		A5D6V5|O95712|Q59GF9|Q8TB10|Q9UKV7	Nonsense_Mutation	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_JmjC_dom,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.E104*	ENST00000397299.4	37	c.310	CCDS45240.1	15	.	.	.	.	.	.	.	.	.	.	.	28.8	4.950556	0.92660	.	.	ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000243789;ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000168970	ENST00000397299;ENST00000408047;ENST00000431823;ENST00000405106;ENST00000542534;ENST00000335032;ENST00000382448;ENST00000342159	.	.	.	4.54	4.54	0.55810	.	0.000000	0.52532	D	0.000071	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-0.1684	17.2878	0.87146	0.0:0.0:1.0:0.0	.	.	.	.	X	104;5;5;5;104;5;104;104	.	ENSP00000380467:E104X	E	+	1	0	JMJD7-PLA2G4B;JMJD7	39914551	1.000000	0.71417	0.892000	0.35008	0.309000	0.27889	9.372000	0.97165	2.232000	0.73038	0.655000	0.94253	GAG	JMJD7-PLA2G4B	-	NULL		0.637	JMJD7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD7-PLA2G4B	HGNC	protein_coding	OTTHUMT00000326082.1	G	NM_001114632		42127259	+1	no_errors	ENST00000382448	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GLTSCR1L	23506	genome.wustl.edu	37	6	42796705	42796705	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:42796705C>T	ENST00000314073.5	+	6	810	c.634C>T	c.(634-636)Caa>Taa	p.Q212*	GLTSCR1L_ENST00000394168.1_Nonsense_Mutation_p.Q212*			Q6AI39	GSC1L_HUMAN	GLTSCR1-like	212								p.Q212*(1)									TGGTTCTGGTCAAATACAGTT	0.418																																																	1	Substitution - Nonsense(1)	lung(1)											149.0	143.0	145.0					6																	42796705		2203	4300	6503	SO:0001587	stop_gained	23506			AL833540	CCDS34451.1	6p21.1	2012-11-29	2012-11-29	2012-11-29	ENSG00000112624	ENSG00000112624			21111	protein-coding gene	gene with protein product			"""KIAA0240"""	KIAA0240			Standard	XM_005248972		Approved		uc003osp.1	Q6AI39	OTTHUMG00000014706	ENST00000314073.5:c.634C>T	6.37:g.42796705C>T	ENSP00000313933:p.Gln212*		A1L3W2|Q5TFZ3|Q92514	Nonsense_Mutation	SNP	NULL	p.Q212*	ENST00000314073.5	37	c.634	CCDS34451.1	6	.	.	.	.	.	.	.	.	.	.	C	37	6.107247	0.97291	.	.	ENSG00000112624	ENST00000394167;ENST00000536004;ENST00000314073;ENST00000394168	.	.	.	5.49	5.49	0.81192	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-10.2526	19.7507	0.96267	0.0:1.0:0.0:0.0	.	.	.	.	X	212	.	ENSP00000313933:Q212X	Q	+	1	0	KIAA0240	42904683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.946000	0.75953	2.722000	0.93159	0.655000	0.94253	CAA	KIAA0240	-	NULL		0.418	GLTSCR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0240	HGNC	protein_coding	OTTHUMT00000040562.3	C	NM_015349		42796705	+1	no_errors	ENST00000314073	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIAA1467	57613	genome.wustl.edu	37	12	13208765	13208765	+	Silent	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:13208765C>G	ENST00000197268.8	+	2	438	c.318C>G	c.(316-318)gtC>gtG	p.V106V		NM_020853.1	NP_065904.1	A2RU67	K1467_HUMAN	KIAA1467	106						integral component of membrane (GO:0016021)				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		GCACGTCTGTCTTCCTGCTGA	0.592																																																	0													98.0	86.0	90.0					12																	13208765		2203	4300	6503	SO:0001819	synonymous_variant	57613			AB040900	CCDS31750.1	12p13.1	2006-01-23				ENSG00000084444			29288	protein-coding gene	gene with protein product						10819331	Standard	XM_005253450		Approved		uc001rbi.3	A2RU67		ENST00000197268.8:c.318C>G	12.37:g.13208765C>G			Q49AF2|Q5CZ81|Q6ZUV7|Q9P261	Silent	SNP	superfamily_Quinonprotein_ADH-like	p.V106	ENST00000197268.8	37	c.318	CCDS31750.1	12																																																																																			KIAA1467	-	superfamily_Quinonprotein_ADH-like		0.592	KIAA1467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1467	HGNC	protein_coding	OTTHUMT00000401007.1	C	NM_020853		13208765	+1	no_errors	ENST00000197268	ensembl	human	known	70_37	silent	SNP	0.990	G
CCDC183	84960	genome.wustl.edu	37	9	139694867	139694867	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:139694867C>T	ENST00000338005.6	+	5	500	c.465C>T	c.(463-465)atC>atT	p.I155I	RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Silent_p.I185I|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		155										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		AGAACAACATCGAGAAGACAA	0.607																																																	0													42.0	48.0	46.0					9																	139694867		2052	4184	6236	SO:0001819	synonymous_variant	84960																														ENST00000338005.6:c.465C>T	9.37:g.139694867C>T			B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	NULL	p.I155	ENST00000338005.6	37	c.465	CCDS43906.1	9																																																																																			KIAA1984	-	NULL		0.607	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	C			139694867	+1	no_errors	ENST00000338005	ensembl	human	known	70_37	silent	SNP	0.953	T
KIF13A	63971	genome.wustl.edu	37	6	17831361	17831361	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:17831361G>A	ENST00000259711.6	-	13	1477	c.1372C>T	c.(1372-1374)Ctt>Ttt	p.L458F	KIF13A_ENST00000378843.2_Missense_Mutation_p.L458F|KIF13A_ENST00000378816.5_Missense_Mutation_p.L458F|KIF13A_ENST00000378814.5_Missense_Mutation_p.L458F|KIF13A_ENST00000378826.2_Missense_Mutation_p.L458F	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	458					ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGTTCGTTAAGAGCAGGGTCT	0.408																																																	0													116.0	114.0	115.0					6																	17831361		1894	4110	6004	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.1372C>T	6.37:g.17831361G>A	ENSP00000259711:p.Leu458Phe		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L458F	ENST00000259711.6	37	c.1372	CCDS47381.1	6	.	.	.	.	.	.	.	.	.	.	G	28.4	4.921312	0.92249	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	T;T;T;T;T	0.75589	-0.93;-0.95;-0.93;-0.93;-0.93	5.3	5.3	0.74995	Forkhead-associated (FHA) domain (1);SMAD/FHA domain (1);	0.000000	0.64402	D	0.000001	D	0.83672	0.5305	M	0.80847	2.515	0.80722	D	1	D;P;D;P;D	0.63046	0.981;0.875;0.992;0.604;0.992	P;P;P;B;P	0.60068	0.846;0.476;0.868;0.354;0.868	D	0.85706	0.1316	10	0.87932	D	0	.	19.3251	0.94258	0.0:0.0:1.0:0.0	.	429;458;458;458;458	E7ER65;Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;.;KI13A_HUMAN;.	F	458	ENSP00000368091:L458F;ENSP00000259711:L458F;ENSP00000368103:L458F;ENSP00000368120:L458F;ENSP00000368093:L458F	ENSP00000259711:L458F	L	-	1	0	KIF13A	17939340	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.923000	0.87546	2.625000	0.88918	0.563000	0.77884	CTT	KIF13A	-	superfamily_SMAD_FHA_domain		0.408	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF13A	HGNC	protein_coding	OTTHUMT00000039954.4	G			17831361	-1	no_errors	ENST00000259711	ensembl	human	known	70_37	missense	SNP	1.000	A
KRT74	121391	genome.wustl.edu	37	12	52967184	52967184	+	Silent	SNP	G	G	A	rs151100866		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:52967184G>A	ENST00000305620.2	-	1	425	c.378C>T	c.(376-378)aaC>aaT	p.N126N	KRT74_ENST00000549343.1_Silent_p.N126N	NM_175053.3	NP_778223.2	Q7RTS7	K2C74_HUMAN	keratin 74	126	Head.				intermediate filament cytoskeleton organization (GO:0045104)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	keratin filament binding (GO:1990254)|structural molecule activity (GO:0005198)			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CCAGCTCCACGTTGAGGGGGG	0.602																																																	0								G		0,4406		0,0,2203	101.0	100.0	100.0		378	-7.4	0.7	12	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	KRT74	NM_175053.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		126/530	52967184	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	121391			BK000977	CCDS8832.1	12q13.13	2013-06-25			ENSG00000170484	ENSG00000170484		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28929	protein-coding gene	gene with protein product		608248				12648212, 16831889	Standard	NM_175053		Approved	K6IRS4, KRT5C, KRT6IRS4	uc001sap.1	Q7RTS7	OTTHUMG00000169658	ENST00000305620.2:c.378C>T	12.37:g.52967184G>A			B5MD61|Q86Y45	Silent	SNP	pfam_F,prints_Keratin_II	p.N126	ENST00000305620.2	37	c.378	CCDS8832.1	12																																																																																			KRT74	-	NULL		0.602	KRT74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT74	HGNC	protein_coding	OTTHUMT00000405324.1	G	NM_175053		52967184	-1	no_errors	ENST00000305620	ensembl	human	known	70_37	silent	SNP	0.001	A
KRTAP13-1	140258	genome.wustl.edu	37	21	31768787	31768787	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr21:31768787G>C	ENST00000355459.2	+	1	396	c.383G>C	c.(382-384)aGa>aCa	p.R128T		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	128						intermediate filament (GO:0005882)				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGGCTTCAGATCCCTGGGT	0.587																																																	0													60.0	60.0	60.0					21																	31768787		2203	4300	6503	SO:0001583	missense	140258			AJ457066	CCDS13590.2	21q22.11	2013-06-20			ENSG00000198390	ENSG00000198390		"""Keratin associated proteins"""	18924	protein-coding gene	gene with protein product		608718				12359730	Standard	NM_181599		Approved	KAP13.1	uc002yoa.3	Q8IUC0	OTTHUMG00000057800	ENST00000355459.2:c.383G>C	21.37:g.31768787G>C	ENSP00000347635:p.Arg128Thr		Q14D20|Q3LI79	Missense_Mutation	SNP	pfam_PMG	p.R128T	ENST00000355459.2	37	c.383	CCDS13590.2	21	.	.	.	.	.	.	.	.	.	.	G	21.6	4.170074	0.78452	.	.	ENSG00000198390	ENST00000355459	T	0.03663	3.85	4.64	4.64	0.57946	.	0.000000	0.44285	D	0.000475	T	0.21387	0.0515	M	0.87682	2.9	0.28618	N	0.908303	D	0.89917	1.0	D	0.76575	0.988	T	0.01235	-1.1410	10	0.72032	D	0.01	.	15.8209	0.78644	0.0:0.0:1.0:0.0	.	128	Q8IUC0	KR131_HUMAN	T	128	ENSP00000347635:R128T	ENSP00000347635:R128T	R	+	2	0	KRTAP13-1	30690658	0.000000	0.05858	0.649000	0.29536	0.228000	0.25075	0.152000	0.16302	2.850000	0.98022	0.650000	0.86243	AGA	KRTAP13-1	-	pfam_PMG		0.587	KRTAP13-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP13-1	HGNC	protein_coding	OTTHUMT00000128252.3	G			31768787	+1	no_errors	ENST00000355459	ensembl	human	known	70_37	missense	SNP	0.961	C
KTN1	3895	genome.wustl.edu	37	14	56083234	56083234	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:56083234G>A	ENST00000395314.3	+	3	591		c.e3-1		KTN1_ENST00000395309.3_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000416613.1_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000413890.2_Splice_Site	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GTTTAATAAAGATGACCAGGA	0.363			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													72.0	67.0	69.0					14																	56083234		2203	4300	6503	SO:0001630	splice_region_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.524-1G>A	14.37:g.56083234G>A			B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Splice_Site	SNP	-	e2-1	ENST00000395314.3	37	c.524-1	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902448	0.72754	.	.	ENSG00000126777	ENST00000413890;ENST00000395309;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.6286	0.88100	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	KTN1	55152987	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.888000	0.63164	2.617000	0.88574	0.655000	0.94253	.	KTN1	-	-		0.363	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G		Intron	56083234	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	splice_site	SNP	1.000	A
LARP4B	23185	genome.wustl.edu	37	10	875463	875463	+	Silent	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:875463C>A	ENST00000316157.3	-	10	1027	c.987G>T	c.(985-987)gtG>gtT	p.V329V		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	329					positive regulation of translation (GO:0045727)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleolus (GO:0005730)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CATACAGGCTCACGTCCAGGG	0.488																																																	0													116.0	90.0	99.0					10																	875463		2203	4300	6503	SO:0001819	synonymous_variant	23185			D86971	CCDS31131.1	10p15.3	2011-08-24	2009-06-09	2009-06-09	ENSG00000107929	ENSG00000107929		"""La ribonucleoprotein domain containing"""	28987	protein-coding gene	gene with protein product			"""KIAA0217"", ""La ribonucleoprotein domain family, member 5"""	KIAA0217, LARP5		9039502, 20573744	Standard	NM_015155		Approved		uc031ptb.1	Q92615	OTTHUMG00000017534	ENST00000316157.3:c.987G>T	10.37:g.875463C>A			A7MD20|Q5T3R3|Q5T3R4|Q5T3R5|Q68CY4	Silent	SNP	pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd	p.V329	ENST00000316157.3	37	c.987	CCDS31131.1	10																																																																																			LARP4B	-	NULL		0.488	LARP4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LARP4B	HGNC	protein_coding	OTTHUMT00000046395.2	C	NM_015155		875463	-1	no_errors	ENST00000316157	ensembl	human	known	70_37	silent	SNP	1.000	A
LCN8	138307	genome.wustl.edu	37	9	139650308	139650308	+	5'UTR	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:139650308G>A	ENST00000482893.1	-	0	1237				LCN8_ENST00000371688.3_Intron			Q6JVE9	LCN8_HUMAN	lipocalin 8						response to hormone (GO:0009725)|transport (GO:0006810)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		gaacggcacagagaaaagtgc	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	138307			AK124003	CCDS35183.1	9q34.3	2011-10-24	2005-01-11		ENSG00000204001	ENSG00000204001		"""Lipocalins"""	27038	protein-coding gene	gene with protein product		612902	"""chromosome 9 open reading frame 137"", ""lipocalin 5"""	LCN5			Standard	XM_005266058		Approved		uc004cjb.1	Q6JVE9	OTTHUMG00000020942	ENST00000482893.1:c.-1388C>T	9.37:g.139650308G>A			A1L4A8|A6NMN9|Q5T5R4	RNA	SNP	-	NULL	ENST00000482893.1	37	NULL		9																																																																																			LCN8	-	-		0.582	LCN8-003	KNOWN	basic	processed_transcript	LCN8	HGNC	protein_coding	OTTHUMT00000055111.1	G	NM_178469		139650308	-1	no_errors	ENST00000482893	ensembl	human	known	70_37	rna	SNP	0.000	A
LGALS7B	653499	genome.wustl.edu	37	19	39281369	39281369	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:39281369G>A	ENST00000314980.4	+	3	152	c.136G>A	c.(136-138)Gat>Aat	p.D46N		NM_001042507.3	NP_001035972.1	P47929	LEG7_HUMAN	lectin, galactoside-binding, soluble, 7B	46	Galectin. {ECO:0000255|PROSITE- ProRule:PRU00639}.				apoptotic process (GO:0006915)|heterophilic cell-cell adhesion (GO:0007157)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	carbohydrate binding (GO:0030246)										GCAGGGCTCCGATGCCGCCCT	0.642																																																	0													35.0	38.0	37.0					19																	39281369		2201	4298	6499	SO:0001583	missense	653499				CCDS42565.1	19q13.2	2011-08-04			ENSG00000178934	ENSG00000178934		"""Lectins, galactoside-binding"""	34447	protein-coding gene	gene with protein product	"""galectin 7B"""						Standard	NM_001042507		Approved	GAL7	uc002ojf.4	P47929		ENST00000314980.4:c.136G>A	19.37:g.39281369G>A	ENSP00000313571:p.Asp46Asn		Q6IB87	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.D46N	ENST00000314980.4	37	c.136	CCDS42565.1	19	.	.	.	.	.	.	.	.	.	.	G	18.48	3.632873	0.67015	.	.	ENSG00000178934	ENST00000314980	T	0.20881	2.04	4.31	4.31	0.51392	.	0.336624	0.25419	N	0.030807	T	0.31327	0.0793	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.10086	-1.0645	7	0.59425	D	0.04	-50.8757	13.8728	0.63629	0.0:0.0:1.0:0.0	.	.	.	.	N	46	ENSP00000313571:D46N	ENSP00000313571:D46N	D	+	1	0	LGALS7B	43973209	0.032000	0.19561	0.010000	0.14722	0.001000	0.01503	1.553000	0.36255	2.241000	0.73720	0.650000	0.86243	GAT	LGALS7B	-	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD		0.642	LGALS7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGALS7B	HGNC	protein_coding	OTTHUMT00000462638.1	G			39281369	+1	no_errors	ENST00000314980	ensembl	human	known	70_37	missense	SNP	0.022	A
LGALS9	3965	genome.wustl.edu	37	17	25958285	25958285	+	5'UTR	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:25958285C>T	ENST00000395473.2	+	0	1462				AC015688.3_ENST00000584605.1_Intron|LGALS9_ENST00000310394.5_5'UTR|LGALS9_ENST00000302228.5_5'UTR|LGALS9_ENST00000448970.2_3'UTR|LGALS9_ENST00000413914.2_5'UTR|LGALS9_ENST00000313648.6_5'UTR	NM_009587.2	NP_033665.1	O00182	LEG9_HUMAN	lectin, galactoside-binding, soluble, 9						positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|galactose binding (GO:0005534)|signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		ACAGAGGCGGCGGAGAGATGG	0.562																																					Melanoma(106;677 1527 28724 29571 46552)|Ovarian(193;263 2088 2118 29005 43023)												0																																										SO:0001623	5_prime_UTR_variant	3965			AB006782	CCDS11222.1, CCDS32592.1	17q11.2	2013-03-28	2008-07-25		ENSG00000168961	ENSG00000168961		"""Lectins, galactoside-binding"""	6570	protein-coding gene	gene with protein product	"""galectin 9"""	601879				9045665	Standard	NM_009587		Approved	LGALS9A	uc002gzp.3	O00182	OTTHUMG00000179831	ENST00000395473.2:c.-7C>T	17.37:g.25958285C>T			A7VJG6|O14532|O75028|Q3B8N1|Q53FQ0|Q9NQ58	RNA	SNP	-	NULL	ENST00000395473.2	37	NULL	CCDS11222.1	17																																																																																			LGALS9	-	-		0.562	LGALS9-001	KNOWN	basic|CCDS	protein_coding	LGALS9	HGNC	protein_coding	OTTHUMT00000255583.1	C	NM_009587		25958285	+1	no_errors	ENST00000448970	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00599	157627	genome.wustl.edu	37	8	9760894	9760894	+	lincRNA	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:9760894C>A	ENST00000385275.1	-	0	170					NR_029668.1				long intergenic non-protein coding RNA 599																		CCACGGTGCTCAGCCAGCCCC	0.652																																																	0													29.0	29.0	29.0					8																	9760894		1568	3582	5150			157627			AF052108		8p23.1	2012-10-19			ENSG00000253230	ENSG00000253230		"""Long non-coding RNAs"", ""-"""	27231	non-coding RNA	RNA, long non-coding	"""retinal non-coding RNA 3"""					8619474, 9110174	Standard	NR_024281		Approved	Rncr3			OTTHUMG00000163734		8.37:g.9760894C>A				RNA	SNP	-	NULL	ENST00000385275.1	37	NULL		8																																																																																			LINC00599	-	-		0.652	LINC00599-201	KNOWN	basic	miRNA	LINC00599	HGNC	lincRNA		C	NR_024281		9760894	-1	no_errors	ENST00000521863	ensembl	human	known	70_37	rna	SNP	1.000	A
LMO7	4008	genome.wustl.edu	37	13	76374891	76374891	+	Missense_Mutation	SNP	A	A	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:76374891A>C	ENST00000341547.4	+	8	1950	c.690A>C	c.(688-690)gaA>gaC	p.E230D	LMO7_ENST00000357063.3_Missense_Mutation_p.E230D|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.E139D|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.E230D	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	230					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGTGTCCTGAACGTGGAGAAT	0.468																																																	0													104.0	102.0	103.0					13																	76374891		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.690A>C	13.37:g.76374891A>C	ENSP00000342112:p.Glu230Asp		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.E230D	ENST00000341547.4	37	c.690	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	A	11.50	1.657874	0.29425	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.56444	1.07;0.97;0.98;0.56;0.46	5.52	-5.91	0.02269	.	0.233745	0.41938	N	0.000800	T	0.29389	0.0732	L	0.31207	0.915	0.21105	N	0.999781	B;B;B	0.14805	0.004;0.002;0.011	B;B;B	0.17979	0.02;0.009;0.01	T	0.04373	-1.0956	10	0.49607	T	0.09	-3.826	4.4409	0.11573	0.2324:0.4046:0.2812:0.0817	.	139;230;178	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	D	230;230;230;178;139	ENSP00000342112:E230D;ENSP00000349571:E230D;ENSP00000366757:E230D;ENSP00000366719:E178D;ENSP00000431129:E139D	ENSP00000342112:E230D	E	+	3	2	LMO7	75272892	0.833000	0.29383	0.001000	0.08648	0.686000	0.39977	-0.064000	0.11636	-1.328000	0.02261	-0.438000	0.05819	GAA	LMO7	-	NULL		0.468	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	A	NM_005358		76374891	+1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.280	C
LMO7	4008	genome.wustl.edu	37	13	76374956	76374956	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:76374956C>G	ENST00000341547.4	+	8	2015	c.755C>G	c.(754-756)tCt>tGt	p.S252C	LMO7_ENST00000357063.3_Missense_Mutation_p.S252C|RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000465261.2_5'UTR|LMO7_ENST00000526202.1_Missense_Mutation_p.S161C|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000377534.3_Missense_Mutation_p.S252C	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	252					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGCTTGGACTCTTTGGGCTCG	0.488																																																	0													173.0	178.0	176.0					13																	76374956		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.755C>G	13.37:g.76374956C>G	ENSP00000342112:p.Ser252Cys		E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S252C	ENST00000341547.4	37	c.755	CCDS9454.1	13	.	.	.	.	.	.	.	.	.	.	C	29.3	4.991067	0.93106	.	.	ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000526202	T;T;T;T;T	0.70516	0.22;0.12;0.12;-0.23;-0.49	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	D	0.85431	0.5695	M	0.78637	2.42	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86331	0.1698	10	0.87932	D	0	-15.2082	19.869	0.96843	0.0:1.0:0.0:0.0	.	161;252;200	E9PMS6;Q8WWI1-3;F8J2B5	.;.;.	C	252;252;252;200;161	ENSP00000342112:S252C;ENSP00000349571:S252C;ENSP00000366757:S252C;ENSP00000366719:S200C;ENSP00000431129:S161C	ENSP00000342112:S252C	S	+	2	0	LMO7	75272957	1.000000	0.71417	0.984000	0.44739	0.905000	0.53344	7.205000	0.77881	2.709000	0.92574	0.591000	0.81541	TCT	LMO7	-	NULL		0.488	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045297.1	C	NM_005358		76374956	+1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	1.000	G
LOC100287792	100287792	genome.wustl.edu	37	20	36305446	36305446	+	lincRNA	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:36305446C>T	ENST00000373508.1	+	0	135					NR_040021.1																						GATGAAGCCTCACGCAGAACA	0.597																																																	0																																												100287792																															20.37:g.36305446C>T				RNA	SNP	-	NULL	ENST00000373508.1	37	NULL		20																																																																																			RP4-640H8.2	-	-		0.597	RP4-640H8.2-001	KNOWN	basic	lincRNA	LOC100287792	Clone_based_vega_gene	lincRNA	OTTHUMT00000276667.1	C			36305446	+1	no_errors	ENST00000373508	ensembl	human	known	70_37	rna	SNP	0.037	T
PIEZO1	9780	genome.wustl.edu	37	16	88804271	88804271	+	Intron	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:88804271G>A	ENST00000301015.9	-	9	1267				RP5-1142A6.2_ENST00000440406.2_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						ACCCCACCCAGAGGCAGGAGG	0.672																																																	0													48.0	50.0	49.0					16																	88804271		692	1590	2282	SO:0001627	intron_variant	100289580			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.1021-49C>T	16.37:g.88804271G>A			A6NHT9|A7E2B7|Q0KKZ9	RNA	SNP	-	NULL	ENST00000301015.9	37	NULL	CCDS54058.1	16																																																																																			RP5-1142A6.2	-	-		0.672	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	LOC100289580	Clone_based_vega_gene	protein_coding	OTTHUMT00000345699.4	G	NM_014745		88804271	+1	no_errors	ENST00000440406	ensembl	human	known	70_37	rna	SNP	0.000	A
COCH	1690	genome.wustl.edu	37	14	31353728	31353728	+	Intron	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:31353728C>A	ENST00000396618.3	+	9	685				RP11-829H16.3_ENST00000556786.1_RNA|RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA|COCH_ENST00000216361.4_Intron|COCH_ENST00000460581.2_Intron|COCH_ENST00000475087.1_Intron|RP11-829H16.3_ENST00000555421.1_RNA|COCH_ENST00000382493.4_Intron	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin						defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TTTTAATTCTCCCTGAATAAC	0.303																																																	0													42.0	43.0	42.0					14																	31353728		2200	4300	6500	SO:0001627	intron_variant	100506071				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.630-31C>A	14.37:g.31353728C>A			A8K9K9|D3DS84|Q96IU6	RNA	SNP	-	NULL	ENST00000396618.3	37	NULL	CCDS9640.1	14																																																																																			RP11-829H16.3	-	-		0.303	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100506071	Clone_based_vega_gene	protein_coding	OTTHUMT00000276608.1	C	NM_004086		31353728	-1	no_errors	ENST00000555108	ensembl	human	known	70_37	rna	SNP	0.001	A
LOC101927924	101927924	genome.wustl.edu	37	2	130680519	130680519	+	lincRNA	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:130680519G>A	ENST00000450840.1	+	0	0				AC079776.2_ENST00000433290.1_RNA																							GGTGCTGCCTGGCAGGTGCAC	0.587																																																	0																																												389033																															2.37:g.130680519G>A				RNA	SNP	-	NULL	ENST00000450840.1	37	NULL		2																																																																																			AC079776.2	-	-		0.587	AC079776.3-001	KNOWN	basic	lincRNA	LOC389033	Clone_based_vega_gene	lincRNA	OTTHUMT00000331345.1	G			130680519	-1	no_errors	ENST00000433290	ensembl	human	known	70_37	rna	SNP	0.004	A
LOC100289656	100289656	genome.wustl.edu	37	15	29034950	29034950	+	RNA	SNP	C	C	T	rs558571280		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:29034950C>T	ENST00000430589.1	+	0	895				RP11-578F21.12_ENST00000562423.1_RNA	NR_036475.2																						AGCGTCACACCGATGGCCTGG	0.577													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18733	0.0		0.0	False		,,,				2504	0.0																0																																												646278																															15.37:g.29034950C>T				RNA	SNP	-	NULL	ENST00000430589.1	37	NULL		15																																																																																			RP11-578F21.12	-	-		0.577	RP11-578F21.10-002	PUTATIVE	basic	processed_transcript	LOC646278	Clone_based_vega_gene	pseudogene	OTTHUMT00000431786.1	C			29034950	+1	no_errors	ENST00000565892	ensembl	human	putative	70_37	rna	SNP	0.053	T
PLPPR4	9890	genome.wustl.edu	37	1	99771889	99771889	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:99771889G>A	ENST00000370185.3	+	7	2112	c.1615G>A	c.(1615-1617)Gag>Aag	p.E539K	LPPR4_ENST00000370184.1_Missense_Mutation_p.E381K|LPPR4_ENST00000457765.1_Missense_Mutation_p.E481K	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		539					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CATCCCTGAGGAGACTCAGGA	0.557																																																	0													107.0	111.0	110.0					1																	99771889		2203	4300	6503	SO:0001583	missense	9890																														ENST00000370185.3:c.1615G>A	1.37:g.99771889G>A	ENSP00000359204:p.Glu539Lys		E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E539K	ENST00000370185.3	37	c.1615	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.643454	0.87859	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000263178;ENST00000370184	T;T;T	0.34072	1.94;1.76;1.38	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	T	0.50684	0.1630	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.78314	0.991;0.979	T	0.37957	-0.9683	9	.	.	.	-26.9995	19.6433	0.95764	0.0:0.0:1.0:0.0	.	481;539	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	K	539;481;539;381	ENSP00000359204:E539K;ENSP00000394913:E481K;ENSP00000359203:E381K	.	E	+	1	0	RP4-788L13.1	99544477	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.360000	0.97119	2.638000	0.89438	0.591000	0.81541	GAG	LPPR4	-	NULL		0.557	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	Uniprot_genename	protein_coding	OTTHUMT00000029670.2	G			99771889	+1	no_errors	ENST00000370185	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC31	79782	genome.wustl.edu	37	3	169578463	169578463	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:169578463C>A	ENST00000316428.5	-	3	430	c.373G>T	c.(373-375)Ggt>Tgt	p.G125C	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Missense_Mutation_p.G125C|LRRC31_ENST00000264676.5_Intron	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	125										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCTACAAAACCATTCCAGGAG	0.448																																																	0													123.0	115.0	118.0					3																	169578463		1916	4135	6051	SO:0001583	missense	79782			AK026912	CCDS43167.1, CCDS63832.1, CCDS63833.1	3q26.2	2005-01-24			ENSG00000114248	ENSG00000114248			26261	protein-coding gene	gene with protein product						12975309	Standard	NM_001277127		Approved	FLJ23259	uc003fgc.2	Q6UY01	OTTHUMG00000164421	ENST00000316428.5:c.373G>T	3.37:g.169578463C>A	ENSP00000325978:p.Gly125Cys		B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.G125C	ENST00000316428.5	37	c.373	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	C	15.45	2.838612	0.51057	.	.	ENSG00000114248	ENST00000316428;ENST00000523069	T;T	0.59772	0.24;0.24	5.24	4.36	0.52297	.	0.355735	0.30901	N	0.008650	T	0.48857	0.1523	L	0.46819	1.47	0.23023	N	0.998415	D	0.52996	0.957	B	0.41946	0.371	T	0.52946	-0.8507	10	0.59425	D	0.04	-0.2047	10.1632	0.42864	0.0:0.8445:0.0:0.1555	.	125	Q6UY01	LRC31_HUMAN	C	125	ENSP00000325978:G125C;ENSP00000429145:G125C	ENSP00000325978:G125C	G	-	1	0	LRRC31	171061157	1.000000	0.71417	0.897000	0.35233	0.559000	0.35586	2.632000	0.46511	2.441000	0.82636	0.650000	0.86243	GGT	LRRC31	-	NULL		0.448	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	C	NM_024727		169578463	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.986	A
LRRC37A2	474170	genome.wustl.edu	37	17	44626584	44626584	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:44626584C>T	ENST00000576629.1	+	10	4574	c.4079C>T	c.(4078-4080)tCa>tTa	p.S1360L	ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000329240.4_Intron|LRRC37A2_ENST00000333412.3_Missense_Mutation_p.S1360L|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000337845.7_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1360						integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GGGGCTTTTTCATCCTTAGGA	0.413																																																	0													14.0	22.0	20.0					17																	44626584		1788	4028	5816	SO:0001583	missense	474170			AY386262	CCDS42353.1	17q21.31	2013-05-14			ENSG00000238083	ENSG00000238083			32404	protein-coding gene	gene with protein product	"""c114 SLIT-like testicular protein"""						Standard	NM_001006607		Approved	FLJ45049	uc002ikn.1	A6NM11	OTTHUMG00000178032	ENST00000576629.1:c.4079C>T	17.37:g.44626584C>T	ENSP00000459551:p.Ser1360Leu		B7ZMC3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S1360L	ENST00000576629.1	37	c.4079	CCDS42353.1	17	.	.	.	.	.	.	.	.	.	.	c	13.44	2.239302	0.39598	.	.	ENSG00000238083	ENST00000333412	T	0.76709	-1.04	2.46	0.361	0.16107	.	.	.	.	.	T	0.71476	0.3344	L	0.42245	1.32	0.09310	N	1	B;P;B	0.46064	0.001;0.872;0.125	B;P;B	0.48770	0.002;0.589;0.056	T	0.61387	-0.7073	9	0.62326	D	0.03	.	2.8055	0.05426	0.2778:0.5607:0.0:0.1615	.	1360;321;1360	C9JSP5;B3KRJ4;A6NM11	.;.;L37A2_HUMAN	L	1360	ENSP00000333071:S1360L	ENSP00000333071:S1360L	S	+	2	0	LRRC37A2	41981900	0.000000	0.05858	0.000000	0.03702	0.107000	0.19398	0.014000	0.13333	0.136000	0.18733	0.175000	0.17021	TCA	LRRC37A2	-	NULL		0.413	LRRC37A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37A2	HGNC	protein_coding	OTTHUMT00000440299.2	C	NM_001006607		44626584	+1	no_errors	ENST00000333412	ensembl	human	known	70_37	missense	SNP	0.000	T
LRRC41	10489	genome.wustl.edu	37	1	46750807	46750807	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:46750807C>T	ENST00000343304.6	-	4	1781				LRRC41_ENST00000472710.1_Intron	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41						protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GCTGGCTTGTCTCACTGCCCC	0.468																																																	0																																										SO:0001627	intron_variant	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.1495+226G>A	1.37:g.46750807C>T			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	RNA	SNP	-	NULL	ENST00000343304.6	37	NULL	CCDS533.1	1																																																																																			LRRC41	-	-		0.468	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46750807	-1	no_errors	ENST00000498402	ensembl	human	known	70_37	rna	SNP	0.000	T
LRRN4	164312	genome.wustl.edu	37	20	6022388	6022388	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:6022388C>T	ENST00000378858.4	-	5	1727	c.1503G>A	c.(1501-1503)caG>caA	p.Q501Q		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	501					long-term memory (GO:0007616)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CGTGTGTCCTCTGGCCGGGCT	0.637																																																	0													107.0	117.0	113.0					20																	6022388		2203	4300	6503	SO:0001819	synonymous_variant	164312			AL118505	CCDS13097.1	20p12.3	2013-02-11	2008-05-20	2008-05-20	ENSG00000125872	ENSG00000125872		"""Fibronectin type III domain containing"""	16208	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 75"""	C20orf75		15870286	Standard	NM_152611		Approved	dJ1056H1.1, NLRR4	uc002wmo.3	Q8WUT4	OTTHUMG00000031825	ENST00000378858.4:c.1503G>A	20.37:g.6022388C>T			A8K258|Q5JWV6|Q9H419	Silent	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.Q501	ENST00000378858.4	37	c.1503	CCDS13097.1	20																																																																																			LRRN4	-	NULL		0.637	LRRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN4	HGNC	protein_coding	OTTHUMT00000077907.2	C	NM_152611		6022388	-1	no_errors	ENST00000378858	ensembl	human	known	70_37	silent	SNP	0.000	T
MACROD2	140733	genome.wustl.edu	37	20	15866419	15866420	+	In_Frame_Ins	INS	-	-	GAA			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:15866419_15866420insGAA	ENST00000310348.4	+	10	738_739	c.738_739insGAA	c.(739-741)gaa>GAAgaa	p.247_247E>EE	MACROD2_ENST00000378058.3_In_Frame_Ins_p.12_12E>EE|MACROD2_ENST00000217246.4_In_Frame_Ins_p.247_247E>EE|MACROD2_ENST00000402914.1_In_Frame_Ins_p.12_12E>EE			A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	247	Glu-rich.				brain development (GO:0007420)|cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				ACGATAATAATGAAGAAGAAGA	0.287																																																	0																																										SO:0001652	inframe_insertion	140733			BC101218	CCDS13120.2, CCDS33443.1	20p12.1	2011-04-28	2007-07-24	2007-07-24	ENSG00000172264	ENSG00000172264			16126	protein-coding gene	gene with protein product		611567	"""chromosome 20 open reading frame 133"""	C20orf133			Standard	NM_080676		Approved	dJ631M13.5	uc002wot.3	A1Z1Q3	OTTHUMG00000031919	ENST00000310348.4:c.745_747dupGAA	20.37:g.15866426_15866428dupGAA	ENSP00000309809:p.Glu250dup		A6NFF7|B0QZ39|B3KWV0|Q0P6D5|Q495E0|Q5W199|Q6ZN71	In_Frame_Ins	INS	pfam_A1pp,smart_A1pp,pfscan_A1pp	p.250in_frame_insE	ENST00000310348.4	37	c.738_739	CCDS13120.2	20																																																																																			MACROD2	-	NULL		0.287	MACROD2-201	KNOWN	basic|CCDS	protein_coding	MACROD2	HGNC	protein_coding		-	NM_080676		15866420	+1	no_errors	ENST00000310348	ensembl	human	known	70_37	in_frame_ins	INS	1.000:1.000	GAA
MAGEL2	54551	genome.wustl.edu	37	15	23889144	23889144	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:23889144C>T	ENST00000532292.1	-	1	2031	c.1937G>A	c.(1936-1938)cGc>cAc	p.R646H		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	529					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)	p.R646H(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CACCTATTAGCGGGGAGGGGG	0.582																																																	1	Substitution - Missense(1)	endometrium(1)											24.0	27.0	26.0					15																	23889144		1996	4164	6160	SO:0001583	missense	54551			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1937G>A	15.37:g.23889144C>T	ENSP00000433433:p.Arg646His			Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R646H	ENST00000532292.1	37	c.1937		15	.	.	.	.	.	.	.	.	.	.	C	3.425	-0.117244	0.06838	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.28	-3.18	0.05186	.	.	.	.	.	T	0.14013	0.0339	N	0.03115	-0.41	0.09310	N	1	.	.	.	.	.	.	T	0.32295	-0.9912	5	.	.	.	.	10.1383	0.42719	0.0:0.3279:0.0:0.6721	.	.	.	.	T	678	.	.	A	-	1	0	MAGEL2	21440237	0.020000	0.18652	0.028000	0.17463	0.029000	0.11900	-1.409000	0.02483	-0.677000	0.05231	-1.340000	0.01251	GCT	MAGEL2	-	NULL		0.582	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2	C	NM_019066		23889144	-1	no_errors	ENST00000532292	ensembl	human	known	70_37	missense	SNP	0.037	T
MAP1A	4130	genome.wustl.edu	37	15	43821253	43821253	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:43821253G>A	ENST00000300231.5	+	4	8032	c.7582G>A	c.(7582-7584)Gag>Aag	p.E2528K	MAP1A_ENST00000382031.1_Missense_Mutation_p.E2766K|MAP1A_ENST00000399453.1_Missense_Mutation_p.E2528K			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2528					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CATCACAGCTGAGGCAGCCCT	0.577																																																	0													103.0	107.0	106.0					15																	43821253		2045	4197	6242	SO:0001583	missense	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.7582G>A	15.37:g.43821253G>A	ENSP00000300231:p.Glu2528Lys		O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	NULL	p.E2528K	ENST00000300231.5	37	c.7582	CCDS42031.1	15	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825637	0.50739	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01725	4.67;4.67;4.67	5.14	5.14	0.70334	.	.	.	.	.	T	0.02929	0.0087	L	0.39898	1.24	0.46260	D	0.998952	P	0.40970	0.734	B	0.39531	0.302	T	0.59584	-0.7427	9	0.51188	T	0.08	-19.8202	18.7812	0.91933	0.0:0.0:1.0:0.0	.	2528	P78559	MAP1A_HUMAN	K	2766;2528;2528	ENSP00000371462:E2766K;ENSP00000382380:E2528K;ENSP00000300231:E2528K	ENSP00000300231:E2528K	E	+	1	0	MAP1A	41608545	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.468000	0.73551	2.660000	0.90430	0.462000	0.41574	GAG	MAP1A	-	NULL		0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP1A	HGNC	protein_coding	OTTHUMT00000132894.5	G	NM_002373		43821253	+1	no_errors	ENST00000399453	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56177460	56177460	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:56177460G>T	ENST00000399503.3	+	14	2433	c.2433G>T	c.(2431-2433)atG>atT	p.M811I		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	811					activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CCCACTCAATGGTTGGCAAAC	0.383																																																	0													106.0	96.0	99.0					5																	56177460		1861	4093	5954	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.2433G>T	5.37:g.56177460G>T	ENSP00000382423:p.Met811Ile			Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.M811I	ENST00000399503.3	37	c.2433	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	G	13.84	2.357438	0.41801	.	.	ENSG00000095015	ENST00000399503	T	0.34072	1.38	5.56	5.56	0.83823	.	0.086182	0.85682	D	0.000000	T	0.38532	0.1044	L	0.51422	1.61	0.58432	D	0.999998	B	0.13145	0.007	B	0.08055	0.003	T	0.13899	-1.0492	10	0.56958	D	0.05	.	19.8805	0.96895	0.0:0.0:1.0:0.0	.	811	Q13233	M3K1_HUMAN	I	811	ENSP00000382423:M811I	ENSP00000382423:M811I	M	+	3	0	MAP3K1	56213217	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.344000	0.72991	2.778000	0.95560	0.655000	0.94253	ATG	MAP3K1	-	NULL		0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	G	XM_042066		56177460	+1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	1.000	T
MAP3K14	9020	genome.wustl.edu	37	17	43362246	43362246	+	RNA	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:43362246C>G	ENST00000344686.2	-	0	1328							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GAAGGAGCCTCTGCCCAGGCG	0.587																																																	0													27.0	31.0	30.0					17																	43362246		1980	4157	6137			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43362246C>G			A8K2D8|D3DX67|Q8IYN1	RNA	SNP	-	NULL	ENST00000344686.2	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	13.18	2.158842	0.38119	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.5	5.5	0.81552	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.356981	0.30890	N	0.008661	T	0.33962	0.0881	L	0.28400	0.85	0.29235	N	0.872981	P	0.43578	0.811	B	0.37387	0.248	T	0.50448	-0.8827	8	0.36615	T	0.2	.	12.0906	0.53724	0.1832:0.8168:0.0:0.0	.	408	Q99558	M3K14_HUMAN	T	407;191	.	ENSP00000342059:R407T	R	-	2	0	MAP3K14	40718029	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.538000	0.45710	2.596000	0.87737	0.455000	0.32223	AGA	MAP3K14	-	-		0.587	MAP3K14-201	KNOWN	basic	processed_transcript	MAP3K14	HGNC	processed_transcript		C	NM_003954		43362246	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	1.000	G
MAP9	79884	genome.wustl.edu	37	4	156283223	156283223	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:156283223G>A	ENST00000311277.4	-	6	1042	c.779C>T	c.(778-780)tCt>tTt	p.S260F	AC097467.2_ENST00000598890.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|MAP9_ENST00000515654.1_Missense_Mutation_p.S260F|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	260					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		GTTTCCCTCAGATCCTGGTGA	0.328																																																	0													90.0	94.0	93.0					4																	156283223		2203	4300	6503	SO:0001583	missense	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.779C>T	4.37:g.156283223G>A	ENSP00000310593:p.Ser260Phe		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Missense_Mutation	SNP	NULL	p.S260F	ENST00000311277.4	37	c.779	CCDS35493.1	4	.	.	.	.	.	.	.	.	.	.	G	15.49	2.849699	0.51270	.	.	ENSG00000164114	ENST00000311277;ENST00000515654;ENST00000433024;ENST00000393836	T;T;T	0.34275	2.09;1.9;1.37	5.43	3.68	0.42216	.	0.417995	0.23396	N	0.048630	T	0.51210	0.1661	M	0.69823	2.125	0.21604	N	0.999628	B;D;D	0.63880	0.011;0.993;0.993	B;D;D	0.63192	0.017;0.912;0.912	T	0.38779	-0.9645	10	0.44086	T	0.13	-0.1202	7.7949	0.29141	0.0878:0.1634:0.7488:0.0	.	259;260;260	B4DVG9;B9EJB6;Q49MG5	.;.;MAP9_HUMAN	F	260;260;259;260	ENSP00000310593:S260F;ENSP00000427402:S260F;ENSP00000394048:S259F	ENSP00000310593:S260F	S	-	2	0	MAP9	156502673	0.518000	0.26234	0.168000	0.22838	0.912000	0.54170	1.848000	0.39309	0.750000	0.32877	0.655000	0.94253	TCT	MAP9	-	NULL		0.328	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP9	HGNC	protein_coding	OTTHUMT00000257771.3	G	NM_001039580		156283223	-1	no_errors	ENST00000311277	ensembl	human	known	70_37	missense	SNP	0.306	A
MAPT	4137	genome.wustl.edu	37	17	44060720	44060720	+	Missense_Mutation	SNP	G	G	A	rs377597373		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:44060720G>A	ENST00000571987.1	+	5	550	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	MAPT_ENST00000446361.3_Intron|MAPT_ENST00000415613.2_Missense_Mutation_p.A184T|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000570299.1_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000535772.1_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000344290.5_Missense_Mutation_p.A184T|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000262410.5_Missense_Mutation_p.A184T			P10636	TAU_HUMAN	microtubule-associated protein tau	184					adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	CGGCCGCCACGCCCCTGAGCT	0.701																																																	0													14.0	16.0	15.0					17																	44060720		2190	4291	6481	SO:0001583	missense	4137			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.550G>A	17.37:g.44060720G>A	ENSP00000458742:p.Ala184Thr		P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Missense_Mutation	SNP	pfam_Tau/MAP_tubulin-bd_rpt,prints_Tau_protein	p.A184T	ENST00000571987.1	37	c.550	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	12.42	1.934135	0.34096	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	T;T;T	0.10099	2.91;2.91;2.91	3.8	1.61	0.23674	.	0.804279	0.10164	N	0.707915	T	0.07773	0.0195	L	0.36672	1.1	0.09310	N	0.999999	P;P	0.48911	0.917;0.614	B;B	0.39738	0.308;0.091	T	0.32188	-0.9916	10	0.25751	T	0.34	1.2494	5.7012	0.17883	0.1183:0.2621:0.6195:0.0	.	184;184	P10636-9;P10636	.;TAU_HUMAN	T	184	ENSP00000340820:A184T;ENSP00000262410:A184T;ENSP00000410838:A184T	ENSP00000262410:A184T	A	+	1	0	MAPT	41416557	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.165000	0.16564	0.294000	0.22547	-0.368000	0.07277	GCC	MAPT	-	NULL		0.701	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1	G	NM_016835		44060720	+1	no_errors	ENST00000344290	ensembl	human	known	70_37	missense	SNP	0.000	A
MBNL1	4154	genome.wustl.edu	37	3	152018043	152018043	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:152018043G>T	ENST00000463374.1	+	1	572	c.61G>T	c.(61-63)Gag>Tag	p.E21*	MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000282486.6_Nonsense_Mutation_p.E21*|MBNL1_ENST00000282488.7_Nonsense_Mutation_p.E21*|MBNL1_ENST00000498502.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000485509.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000357472.3_Nonsense_Mutation_p.E21*|MBNL1_ENST00000545754.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000485910.1_Nonsense_Mutation_p.E21*|MBNL1_ENST00000355460.2_Nonsense_Mutation_p.E21*|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Nonsense_Mutation_p.E21*|MBNL1_ENST00000324196.5_Nonsense_Mutation_p.E21*|MBNL1_ENST00000492948.1_Nonsense_Mutation_p.E21*	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	21					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AGTATGTAGAGAGTTCCAGAG	0.438																																																	0													100.0	95.0	97.0					3																	152018043		2203	4300	6503	SO:0001587	stop_gained	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.61G>T	3.37:g.152018043G>T	ENSP00000418108:p.Glu21*		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Nonsense_Mutation	SNP	smart_Znf_CCCH	p.E21*	ENST00000463374.1	37	c.61	CCDS3165.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	41|41	8.698769|8.698769	0.98920|0.98920	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000464596|ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509	.|.	.|.	.|.	5.43|5.43	5.43|5.43	0.79202|0.79202	.|.	0.121378|0.121378	0.64402|0.64402	D|D	0.000013|0.000013	T|.	0.81612|.	0.4859|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	D|.	0.83751|.	0.0209|.	4|.	.|0.87932	.|D	.|0	.|.	19.297|19.297	0.94126|0.94126	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	D|X	19|21	.|.	.|ENSP00000282486:E21X	E|E	+|+	3|1	2|0	MBNL1|MBNL1	153500733|153500733	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.424000|4.424000	0.59868|0.59868	2.561000|2.561000	0.86390|0.86390	0.586000|0.586000	0.80456|0.80456	GAG|GAG	MBNL1	-	smart_Znf_CCCH		0.438	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	G	NM_021038		152018043	+1	no_errors	ENST00000282486	ensembl	human	known	70_37	nonsense	SNP	1.000	T
MBNL1	4154	genome.wustl.edu	37	3	152018051	152018051	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:152018051G>T	ENST00000463374.1	+	1	580	c.69G>T	c.(67-69)caG>caT	p.Q23H	MBNL1_ENST00000461436.1_3'UTR|MBNL1_ENST00000282486.6_Missense_Mutation_p.Q23H|MBNL1_ENST00000282488.7_Missense_Mutation_p.Q23H|MBNL1_ENST00000498502.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000485509.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000357472.3_Missense_Mutation_p.Q23H|MBNL1_ENST00000545754.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000485910.1_Missense_Mutation_p.Q23H|MBNL1_ENST00000355460.2_Missense_Mutation_p.Q23H|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000324210.5_Missense_Mutation_p.Q23H|MBNL1_ENST00000324196.5_Missense_Mutation_p.Q23H|MBNL1_ENST00000492948.1_Missense_Mutation_p.Q23H	NM_207293.1	NP_997176.1	Q9NR56	MBNL1_HUMAN	muscleblind-like splicing regulator 1	23					alternative mRNA splicing, via spliceosome (GO:0000380)|embryonic limb morphogenesis (GO:0030326)|in utero embryonic development (GO:0001701)|mRNA splice site selection (GO:0006376)|myoblast differentiation (GO:0045445)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|skeletal muscle tissue development (GO:0007519)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			GAGAGTTCCAGAGGGGGACTT	0.433																																																	0													103.0	98.0	100.0					3																	152018051		2203	4300	6503	SO:0001583	missense	4154			Y13829	CCDS3163.1, CCDS3164.1, CCDS3165.1, CCDS3166.1, CCDS3167.1, CCDS3168.1, CCDS54656.1	3q25	2013-01-18	2012-02-23	2003-03-14	ENSG00000152601	ENSG00000152601		"""Zinc fingers, CCCH-type domain containing"""	6923	protein-coding gene	gene with protein product		606516	"""muscleblind (Drosophila)-like"", ""muscleblind-like (Drosophila)"""	MBNL			Standard	NM_021038		Approved	KIAA0428, EXP42, EXP40, EXP35, EXP	uc003ezm.3	Q9NR56	OTTHUMG00000159163	ENST00000463374.1:c.69G>T	3.37:g.152018051G>T	ENSP00000418108:p.Gln23His		E9PBW7|O43311|O43797|Q86UV8|Q86UV9|Q96P92|Q96RE3	Missense_Mutation	SNP	smart_Znf_CCCH	p.Q23H	ENST00000463374.1	37	c.69	CCDS3165.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.99|13.99	2.402273|2.402273	0.42613|0.42613	.|.	.|.	ENSG00000152601|ENSG00000152601	ENST00000282486;ENST00000282488;ENST00000355460;ENST00000324210;ENST00000498502;ENST00000324196;ENST00000545754;ENST00000357472;ENST00000485910;ENST00000463374;ENST00000465907;ENST00000492948;ENST00000485509|ENST00000464596	T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.58506|.	0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33;0.33|.	5.43|5.43	2.86|2.86	0.33363|0.33363	Zinc finger, CCCH-type (2);|.	0.112706|.	0.64402|.	D|.	0.000009|.	T|T	0.78666|0.78666	0.4319|0.4319	M|M	0.92412|0.92412	3.305|3.305	0.58432|0.58432	D|D	0.999997|0.999997	D;D;D;D;D;D;D|.	0.63880|.	0.989;0.991;0.991;0.993;0.961;0.987;0.977|.	D;D;P;D;P;D;D|.	0.67548|.	0.928;0.945;0.891;0.952;0.853;0.94;0.921|.	T|T	0.78575|0.78575	-0.2151|-0.2151	10|5	0.66056|.	D|.	0.02|.	.|.	8.9284|8.9284	0.35655|0.35655	0.7531:0.0:0.2469:0.0|0.7531:0.0:0.2469:0.0	.|.	23;23;23;23;23;23;23|.	E9PBW7;Q9NR56-3;Q96RE3;Q9NR56;Q86UV8;Q9NR56-2;Q96P92|.	.;.;.;MBNL1_HUMAN;.;.;.|.	H|I	23|22	ENSP00000282486:Q23H;ENSP00000282488:Q23H;ENSP00000347637:Q23H;ENSP00000319429:Q23H;ENSP00000420327:Q23H;ENSP00000319374:Q23H;ENSP00000437491:Q23H;ENSP00000350064:Q23H;ENSP00000418427:Q23H;ENSP00000418108:Q23H;ENSP00000417630:Q23H;ENSP00000420103:Q23H;ENSP00000418876:Q23H|.	ENSP00000282486:Q23H|.	Q|R	+|+	3|2	2|0	MBNL1|MBNL1	153500741|153500741	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	2.695000|2.695000	0.47043|0.47043	0.301000|0.301000	0.22738|0.22738	-0.225000|-0.225000	0.12378|0.12378	CAG|AGA	MBNL1	-	smart_Znf_CCCH		0.433	MBNL1-006	KNOWN	basic|CCDS	protein_coding	MBNL1	HGNC	protein_coding	OTTHUMT00000353604.1	G	NM_021038		152018051	+1	no_errors	ENST00000282486	ensembl	human	known	70_37	missense	SNP	1.000	T
MB21D2	151963	genome.wustl.edu	37	3	192516720	192516720	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:192516720G>A	ENST00000392452.2	-	2	1251	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001587	stop_gained	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>T	3.37:g.192516720G>A	ENSP00000376246:p.Gln311*		Q86VD8	Nonsense_Mutation	SNP	pfam_Mab-21_dom	p.Q311*	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	38	6.850684	0.97885	.	.	ENSG00000180611	ENST00000392452	.	.	.	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	.	.	.	X	311	.	ENSP00000376246:Q311X	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	G	NM_178496		192516720	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MC1R	4157	genome.wustl.edu	37	16	89981138	89981138	+	5'UTR	SNP	T	T	C	rs138954757|rs201800286		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:89981138T>C	ENST00000555427.1	+	0	1313				RP11-566K11.7_ENST00000570217.1_RNA			Q01726	MSHR_HUMAN	melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|intracellular signal transduction (GO:0035556)|melanin biosynthetic process (GO:0042438)|multicellular organismal development (GO:0007275)|negative regulation of tumor necrosis factor production (GO:0032720)|pigmentation (GO:0043473)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sensory perception of pain (GO:0019233)|UV protection (GO:0009650)|UV-damage excision repair (GO:0070914)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled peptide receptor activity (GO:0008528)|melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|ubiquitin protein ligase binding (GO:0031625)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		tgtgtgtgtgtgcctgtgtgt	0.532									Melanoma, Familial Clustering of																																								0																																										SO:0001623	5_prime_UTR_variant	4157	Familial Cancer Database			CCDS56011.1	16q24.3	2012-10-05			ENSG00000258839	ENSG00000258839		"""GPCR / Class A : Melanocortin receptors"""	6929	protein-coding gene	gene with protein product		155555				8458079	Standard	NM_002386		Approved	MSH-R		Q01726		ENST00000555427.1:c.-991T>C	16.37:g.89981138T>C			Q66K38|Q6UR93|Q8WWX6|Q8WWX7|Q96I33|Q96RU4|Q9UBF7|Q9UN58|Q9UN59|Q9UN60|Q9UN61|Q9UN62	RNA	SNP	-	NULL	ENST00000555427.1	37	NULL		16																																																																																			MC1R	-	-		0.532	MC1R-002	PUTATIVE	basic	protein_coding	MC1R	HGNC	protein_coding	OTTHUMT00000412001.2	T	NM_002386		89981138	+1	no_errors	ENST00000539976	ensembl	human	known	70_37	rna	SNP	0.439	C
MCC	4163	genome.wustl.edu	37	5	112418618	112418618	+	Missense_Mutation	SNP	C	C	T	rs369310896		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:112418618C>T	ENST00000302475.4	-	9	1716	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.G575R|MCC_ENST00000515367.2_Missense_Mutation_p.G322R	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	385					negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATGGCAGATCCGTGTGAGTAG	0.478																																																	0								C	ARG/GLY,ARG/GLY	1,4403	2.1+/-5.4	0,1,2201	221.0	190.0	200.0		1723,1153	4.9	1.0	5		200	0,8600		0,0,4300	no	missense,missense	MCC	NM_001085377.1,NM_002387.2	125,125	0,1,6501	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging,probably-damaging	575/1020,385/830	112418618	1,13003	2202	4300	6502	SO:0001583	missense	4163				CCDS4111.1, CCDS43351.1	5q21-q22	2013-01-10			ENSG00000171444	ENSG00000171444		"""EF-hand domain containing"""	6935	protein-coding gene	gene with protein product		159350				1848370	Standard	NM_002387		Approved		uc003kql.4	P23508	OTTHUMG00000128804	ENST00000302475.4:c.1153G>A	5.37:g.112418618C>T	ENSP00000305617:p.Gly385Arg		D3DT05|Q6ZR04	Missense_Mutation	SNP	pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm	p.G385R	ENST00000302475.4	37	c.1153	CCDS4111.1	5	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511566	0.85389	2.27E-4	0.0	ENSG00000171444	ENST00000302475;ENST00000515367;ENST00000408903	T;T;T	0.40756	2.19;2.19;1.02	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	N	0.24115	0.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;0.998	D;D;D;D	0.87578	0.996;0.956;0.998;0.928	T	0.51204	-0.8735	10	0.36615	T	0.2	-17.2064	18.4913	0.90849	0.0:1.0:0.0:0.0	.	385;347;575;385	B7Z6G0;B3KTX0;P23508-2;P23508	.;.;.;CRCM_HUMAN	R	385;322;575	ENSP00000305617:G385R;ENSP00000421615:G322R;ENSP00000386227:G575R	ENSP00000305617:G385R	G	-	1	0	MCC	112446517	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	6.180000	0.71981	2.433000	0.82419	0.467000	0.42956	GGA	MCC	-	NULL		0.478	MCC-001	KNOWN	basic|CCDS	protein_coding	MCC	HGNC	protein_coding	OTTHUMT00000250736.3	C	NM_001085377		112418618	-1	no_errors	ENST00000302475	ensembl	human	known	70_37	missense	SNP	1.000	T
MCTP2	55784	genome.wustl.edu	37	15	95001386	95001386	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:95001386G>C	ENST00000357742.4	+	19	2271	c.2271G>C	c.(2269-2271)ttG>ttC	p.L757F	MCTP2_ENST00000451018.3_Missense_Mutation_p.L702F	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	757					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AAAAGGGGTTGATTGAAAGAA	0.299																																																	0													99.0	106.0	103.0					15																	95001386		2197	4298	6495	SO:0001583	missense	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.2271G>C	15.37:g.95001386G>C	ENSP00000350377:p.Leu757Phe		A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.L757F	ENST00000357742.4	37	c.2271	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	G	4.927	0.172154	0.09391	.	.	ENSG00000140563	ENST00000451018;ENST00000357742	T;T	0.71341	-0.56;-0.32	4.94	-2.41	0.06562	Phosphoribosyltransferase C-terminal (1);	0.465967	0.22073	N	0.065001	T	0.53302	0.1788	L	0.43646	1.37	0.80722	D	1	B;B	0.27791	0.004;0.189	B;B	0.35278	0.019;0.199	T	0.21008	-1.0258	10	0.17832	T	0.49	.	1.918	0.03301	0.3367:0.3744:0.1508:0.1381	.	702;757	Q6DN12-2;Q6DN12	.;MCTP2_HUMAN	F	702;757	ENSP00000395109:L702F;ENSP00000350377:L757F	ENSP00000350377:L757F	L	+	3	2	MCTP2	92802390	0.919000	0.31177	0.066000	0.19879	0.671000	0.39405	0.033000	0.13754	-0.655000	0.05387	-0.377000	0.06932	TTG	MCTP2	-	pfam_PRibTrfase_C		0.299	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	G	NM_018349		95001386	+1	no_errors	ENST00000357742	ensembl	human	known	70_37	missense	SNP	0.857	C
MDN1	23195	genome.wustl.edu	37	6	90402195	90402195	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:90402195C>A	ENST00000369393.3	-	63	10669	c.10554G>T	c.(10552-10554)caG>caT	p.Q3518H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q3518H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3518					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAGGGCCCTCTGGTCCAACT	0.607																																																	0													45.0	46.0	46.0					6																	90402195		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10554G>T	6.37:g.90402195C>A	ENSP00000358400:p.Gln3518His		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.Q3518H	ENST00000369393.3	37	c.10554	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305786	0.23736	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.03272	3.99;3.99	5.64	4.77	0.60923	.	0.143885	0.48286	D	0.000193	T	0.06962	0.0177	M	0.77820	2.39	0.36506	D	0.869303	D	0.62365	0.991	P	0.57324	0.818	T	0.06588	-1.0818	10	0.51188	T	0.08	.	10.1608	0.42851	0.1365:0.7928:0.0:0.0707	.	3518	Q9NU22	MDN1_HUMAN	H	3518	ENSP00000358400:Q3518H;ENSP00000413970:Q3518H	ENSP00000358400:Q3518H	Q	-	3	2	MDN1	90458916	0.989000	0.36119	1.000000	0.80357	0.975000	0.68041	0.655000	0.24933	1.377000	0.46286	0.462000	0.41574	CAG	MDN1	-	pirsf_Midasin		0.607	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90402195	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	A
MED13	9969	genome.wustl.edu	37	17	60038436	60038436	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:60038436G>A	ENST00000397786.2	-	23	5348	c.5272C>T	c.(5272-5274)Cga>Tga	p.R1758*		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1758					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)	p.R1758*(1)		breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GCATAAAGTCGAATACACTCT	0.318																																																	1	Substitution - Nonsense(1)	endometrium(1)											76.0	65.0	69.0					17																	60038436		1809	4064	5873	SO:0001587	stop_gained	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5272C>T	17.37:g.60038436G>A	ENSP00000380888:p.Arg1758*		B2RU05|O60334	Nonsense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.R1758*	ENST00000397786.2	37	c.5272	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	G	45	11.720686	0.99595	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	.	.	.	5.16	5.16	0.70880	.	0.184796	0.48767	D	0.000165	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-33.274	14.39	0.66973	0.0:0.0:0.8516:0.1484	.	.	.	.	X	1758;1757	.	ENSP00000262436:R1757X	R	-	1	2	MED13	57393218	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.223000	0.72257	2.409000	0.81822	0.650000	0.86243	CGA	MED13	-	pfam_Mediator_Med13		0.318	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	G	NM_005121		60038436	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MGA	23269	genome.wustl.edu	37	15	42000403	42000403	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:42000403G>C	ENST00000570161.1	+	6	2422	c.2422G>C	c.(2422-2424)Gaa>Caa	p.E808Q	MGA_ENST00000566586.1_Missense_Mutation_p.E808Q|MGA_ENST00000545763.1_Missense_Mutation_p.E808Q|MGA_ENST00000219905.7_Missense_Mutation_p.E808Q|MGA_ENST00000389936.4_Missense_Mutation_p.E808Q			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATCTAGGAATGAAGGTAATTA	0.348																																																	0													46.0	42.0	43.0					15																	42000403		1804	4070	5874	SO:0001583	missense	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2422G>C	15.37:g.42000403G>C	ENSP00000457035:p.Glu808Gln		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E808Q	ENST00000570161.1	37	c.2422	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	25.1	4.606804	0.87157	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	T;T;T	0.52983	0.64;0.64;0.64	5.71	5.71	0.89125	.	1.041280	0.07571	N	0.918628	T	0.61489	0.2351	L	0.29908	0.895	0.39310	D	0.965069	D;D	0.65815	0.988;0.995	D;P	0.71184	0.972;0.878	T	0.54105	-0.8343	10	0.87932	D	0	.	15.6745	0.77303	0.0:0.1364:0.8636:0.0	.	808;808	F5H7K2;E7ENI0	.;.	Q	808	ENSP00000219905:E808Q;ENSP00000374586:E808Q;ENSP00000442467:E808Q	ENSP00000219905:E808Q	E	+	1	0	MGA	39787695	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.843000	0.69424	2.850000	0.98022	0.655000	0.94253	GAA	MGA	-	NULL		0.348	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	G	NM_001164273.1		42000403	+1	no_errors	ENST00000219905	ensembl	human	known	70_37	missense	SNP	1.000	C
MICAL3	57553	genome.wustl.edu	37	22	18301126	18301126	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr22:18301126G>A	ENST00000441493.2	-	26	4653	c.4301C>T	c.(4300-4302)tCc>tTc	p.S1434F	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1434	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CATGTTGGAGGAGCTCCCGTG	0.711																																																	0													17.0	21.0	20.0					22																	18301126		2006	4139	6145	SO:0001583	missense	57553			AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4301C>T	22.37:g.18301126G>A	ENSP00000416015:p.Ser1434Phe		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Missense_Mutation	SNP	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like	p.S1434F	ENST00000441493.2	37	c.4301	CCDS46659.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.54|17.54	3.415522|3.415522	0.62511|0.62511	.|.	.|.	ENSG00000093100|ENSG00000093100	ENST00000252134|ENST00000441493	.|T	.|0.68479	.|-0.33	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	.|.	.|.	.|.	.|.	T|T	0.71634|0.71634	0.3363|0.3363	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|P	.|0.46512	.|0.879	.|P	.|0.49276	.|0.605	T|T	0.76884|0.76884	-0.2794|-0.2794	5|9	.|0.72032	.|D	.|0.01	.|.	17.0491|17.0491	0.86513|0.86513	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1434	.|Q7RTP6	.|MICA3_HUMAN	S|F	416|1434	.|ENSP00000416015:S1434F	.|ENSP00000416015:S1434F	P|S	-|-	1|2	0|0	XXbac-B461K10.4|XXbac-B461K10.4	16681126|16681126	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.971000|3.971000	0.56831|0.56831	2.013000|2.013000	0.59113|0.59113	0.455000|0.455000	0.32223|0.32223	CCT|TCC	MICAL3	-	NULL		0.711	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	MICAL3	HGNC	protein_coding	OTTHUMT00000447351.1	G			18301126	-1	no_errors	ENST00000441493	ensembl	human	known	70_37	missense	SNP	1.000	A
TECR	9524	genome.wustl.edu	37	19	14640413	14640413	+	5'UTR	SNP	C	C	G	rs530079728		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:14640413C>G	ENST00000215567.5	+	0	42				TECR_ENST00000436007.2_5'UTR|TECR_ENST00000600083.1_5'UTR|TECR_ENST00000596073.1_5'UTR|DNAJB1_ENST00000396969.4_5'Flank|MIR639_ENST00000384974.1_RNA	NM_138501.5	NP_612510.1	Q9NZ01	TECR_HUMAN	trans-2,3-enoyl-CoA reductase						cellular lipid metabolic process (GO:0044255)|fatty acid elongation (GO:0030497)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|very long-chain fatty acid biosynthetic process (GO:0042761)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|nucleus (GO:0005634)	oxidoreductase activity, acting on the CH-CH group of donors (GO:0016627)			endometrium(1)|large_intestine(1)|ovary(1)	3						CGCGTTTAGTCTATCGCTGCG	0.716																																																	0													18.0	22.0	21.0					19																	14640413		1568	3581	5149	SO:0001623	5_prime_UTR_variant	693224			AK001416	CCDS12313.1	19p13.12	2014-05-27	2009-07-21	2009-07-21	ENSG00000099797	ENSG00000099797			4551	protein-coding gene	gene with protein product		610057	"""glycoprotein, synaptic 2"""	SC2, GPSN2		9653160, 12482854	Standard	NM_138501		Approved	TER, MRT14	uc002mza.3	Q9NZ01		ENST00000215567.5:c.-96C>G	19.37:g.14640413C>G			B2RD55|O75350|Q6IBB2|Q9BWK3|Q9Y6P0	RNA	SNP	-	NULL	ENST00000215567.5	37	NULL	CCDS12313.1	19																																																																																			MIR639	-	-		0.716	TECR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR639	HGNC	protein_coding	OTTHUMT00000466000.1	C	NM_138501		14640413	+1	no_errors	ENST00000384974	ensembl	human	known	70_37	rna	SNP	0.594	G
MLKL	197259	genome.wustl.edu	37	16	74709568	74709568	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:74709568G>A	ENST00000308807.7	-	8	1596	c.1133C>T	c.(1132-1134)tCa>tTa	p.S378L	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1			mixed lineage kinase domain-like											breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TTCCTGAGGTGAGAGATATGC	0.388																																																	0													153.0	143.0	146.0					16																	74709568		2198	4300	6498	SO:0001583	missense	197259			AK091708	CCDS32487.1, CCDS45528.1	16q22.3	2008-02-05				ENSG00000168404			26617	protein-coding gene	gene with protein product		615153				12477932	Standard	NM_152649		Approved	FLJ34389	uc002fdb.2	Q8NB16		ENST00000308807.7:c.1133C>T	16.37:g.74709568G>A	ENSP00000308351:p.Ser378Leu			Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S378L	ENST00000308807.7	37	c.1133	CCDS32487.1	16	.	.	.	.	.	.	.	.	.	.	G	21.5	4.164016	0.78339	.	.	ENSG00000168404	ENST00000308807	D	0.94417	-3.42	4.96	4.96	0.65561	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.252278	0.35838	N	0.002958	D	0.96839	0.8968	M	0.84156	2.68	0.37937	D	0.932185	D	0.69078	0.997	D	0.63703	0.917	D	0.98194	1.0464	10	0.72032	D	0.01	-9.1708	14.4158	0.67148	0.0:0.0:1.0:0.0	.	378	Q8NB16	MLKL_HUMAN	L	378	ENSP00000308351:S378L	ENSP00000308351:S378L	S	-	2	0	MLKL	73267069	0.994000	0.37717	0.728000	0.30774	0.054000	0.15201	4.224000	0.58593	2.688000	0.91661	0.498000	0.49722	TCA	MLKL	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	MLKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLKL	HGNC	protein_coding	OTTHUMT00000436403.3	G	NM_152649		74709568	-1	no_errors	ENST00000308807	ensembl	human	known	70_37	missense	SNP	0.912	A
MORN3	283385	genome.wustl.edu	37	12	122097188	122097188	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:122097188C>T	ENST00000355329.3	-	2	382	c.212G>A	c.(211-213)cGa>cAa	p.R71Q		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	71						nucleus (GO:0005634)				breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		GTAGCCGTCTCGCTTCCCAAA	0.537																																																	0													157.0	125.0	136.0					12																	122097188		2203	4300	6503	SO:0001583	missense	283385			BC057760	CCDS31917.1	12q24.31	2006-01-17			ENSG00000139714	ENSG00000139714			29807	protein-coding gene	gene with protein product							Standard	NM_173855		Approved		uc001uax.3	Q6PF18	OTTHUMG00000169075	ENST00000355329.3:c.212G>A	12.37:g.122097188C>T	ENSP00000347486:p.Arg71Gln		Q86YQ9	Missense_Mutation	SNP	pfam_MORN,smart_MORN	p.R71Q	ENST00000355329.3	37	c.212	CCDS31917.1	12	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861952	0.71949	.	.	ENSG00000139714	ENST00000355329	T	0.59364	0.27	5.23	4.34	0.51931	.	0.285833	0.33346	N	0.005020	T	0.69744	0.3145	L	0.58925	1.835	0.48288	D	0.999621	D	0.89917	1.0	D	0.87578	0.998	T	0.67118	-0.5751	10	0.30854	T	0.27	.	12.448	0.55662	0.0:0.9172:0.0:0.0828	.	71	Q6PF18	MORN3_HUMAN	Q	71	ENSP00000347486:R71Q	ENSP00000347486:R71Q	R	-	2	0	MORN3	120581571	1.000000	0.71417	0.997000	0.53966	0.329000	0.28539	4.846000	0.62860	1.200000	0.43188	0.563000	0.77884	CGA	MORN3	-	pfam_MORN,smart_MORN		0.537	MORN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MORN3	HGNC	protein_coding	OTTHUMT00000402154.1	C	NM_173855		122097188	-1	no_errors	ENST00000355329	ensembl	human	known	70_37	missense	SNP	0.998	T
MRPL37	51253	genome.wustl.edu	37	1	54675624	54675624	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:54675624C>A	ENST00000360840.5	+	4	729	c.652C>A	c.(652-654)Ctt>Att	p.L218I	MRPL37_ENST00000336230.6_Missense_Mutation_p.L87I|MRPL37_ENST00000487096.1_3'UTR|MRPL37_ENST00000605337.1_Missense_Mutation_p.L218I	NM_016491.3	NP_057575.2	Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	218					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						TTTAGAGTCTCTTCTCCTTCA	0.502																																																	0													98.0	98.0	98.0					1																	54675624		2203	4300	6503	SO:0001583	missense	51253			AB051344	CCDS589.1	1p32.1	2012-09-13			ENSG00000116221	ENSG00000116221		"""Mitochondrial ribosomal proteins / large subunits"""	14034	protein-coding gene	gene with protein product		611843				10600119	Standard	NM_016491		Approved	RPML2, MRP-L2	uc001cxa.4	Q9BZE1	OTTHUMG00000008118	ENST00000360840.5:c.652C>A	1.37:g.54675624C>A	ENSP00000354086:p.Leu218Ile		Q96Q67|Q9BWR1|Q9P0P3	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.L218I	ENST00000360840.5	37	c.652	CCDS589.1	1	.	.	.	.	.	.	.	.	.	.	C	5.501	0.277514	0.10403	.	.	ENSG00000116221	ENST00000360840;ENST00000329505;ENST00000336230	T;T	0.32272	2.33;1.46	5.16	-10.3	0.00346	.	1.233040	0.05457	N	0.550421	T	0.18383	0.0441	L	0.43152	1.355	0.09310	N	1	B;B;B	0.16396	0.017;0.004;0.0	B;B;B	0.15484	0.013;0.01;0.003	T	0.11641	-1.0579	10	0.37606	T	0.19	-5.2092	2.5561	0.04760	0.1526:0.4145:0.193:0.2399	.	87;155;218	A6NHR2;E9PB99;Q9BZE1	.;.;RM37_HUMAN	I	218;155;87	ENSP00000354086:L218I;ENSP00000338526:L87I	ENSP00000328799:L155I	L	+	1	0	MRPL37	54448212	0.000000	0.05858	0.001000	0.08648	0.492000	0.33523	-3.144000	0.00585	-4.183000	0.00067	-1.880000	0.00545	CTT	MRPL37	-	pfam_Ribosomal_L37/S30		0.502	MRPL37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL37	HGNC	protein_coding	OTTHUMT00000022224.1	C	NM_016491		54675624	+1	no_errors	ENST00000360840	ensembl	human	known	70_37	missense	SNP	0.000	A
MRS2	57380	genome.wustl.edu	37	6	24423832	24423832	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:24423832G>C	ENST00000378386.3	+	11	1335	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	MRS2_ENST00000543597.1_Missense_Mutation_p.K123N|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000535061.1_Missense_Mutation_p.K364N|MRS2_ENST00000443868.2_Missense_Mutation_p.K417N	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	414						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	magnesium ion transmembrane transporter activity (GO:0015095)			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						TACCTAAAAAGACTCTTCTGG	0.358																																																	0													57.0	59.0	58.0					6																	24423832		2203	4300	6503	SO:0001583	missense	57380			AF288288	CCDS4552.1, CCDS69055.1, CCDS69056.1, CCDS75408.1	6p22.3-p22.1	2013-05-03	2013-05-03	2008-01-18	ENSG00000124532	ENSG00000124532			13785	protein-coding gene	gene with protein product			"""MRS2-like, magnesium homeostasis factor (S. cerevisiae)"", ""MRS2 magnesium homeostasis factor homolog (S. cerevisiae)"""	MRS2L			Standard	XM_005249242		Approved		uc003neb.3	Q9HD23	OTTHUMG00000014355	ENST00000378386.3:c.1242G>C	6.37:g.24423832G>C	ENSP00000367637:p.Lys414Asn		A8K4U3|B3KNN2|B4DQL2|Q5T3Y1|Q6NTG4|Q96KF8|Q9BVP1	Missense_Mutation	SNP	NULL	p.K417N	ENST00000378386.3	37	c.1251	CCDS4552.1	6	.	.	.	.	.	.	.	.	.	.	G	9.560	1.118288	0.20877	.	.	ENSG00000124532	ENST00000543597;ENST00000535061;ENST00000378386;ENST00000443868	T;T;T;T	0.48522	0.81;1.4;1.31;1.3	5.52	4.65	0.58169	.	0.241411	0.41605	D	0.000852	T	0.17746	0.0426	L	0.29908	0.895	0.33180	D	0.549441	B;B;B	0.28783	0.11;0.11;0.222	B;B;B	0.27715	0.082;0.046;0.031	T	0.09143	-1.0688	10	0.52906	T	0.07	-27.957	7.3776	0.26837	0.2425:0.0:0.7575:0.0	.	364;417;414	F5GWH3;B4DQL2;Q9HD23	.;.;MRS2_HUMAN	N	123;364;414;417	ENSP00000438118:K123N;ENSP00000441839:K364N;ENSP00000367637:K414N;ENSP00000399585:K417N	ENSP00000367637:K414N	K	+	3	2	MRS2	24531811	0.996000	0.38824	0.875000	0.34327	0.082000	0.17680	2.364000	0.44187	1.567000	0.49668	0.563000	0.77884	AAG	MRS2	-	NULL		0.358	MRS2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	MRS2	HGNC	protein_coding	OTTHUMT00000040002.1	G			24423832	+1	no_errors	ENST00000443868	ensembl	human	known	70_37	missense	SNP	0.857	C
RNF141	50862	genome.wustl.edu	37	11	10562858	10562858	+	5'Flank	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:10562858C>A	ENST00000265981.2	-	0	0				MRVI1-AS1_ENST00000529829.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|RNF141_ENST00000528665.1_5'Flank	NM_016422.3	NP_057506.2	Q8WVD5	RN141_HUMAN	ring finger protein 141						protein autoubiquitination (GO:0051865)|regulation of transcription, DNA-templated (GO:0006355)		DNA binding (GO:0003677)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		ACCCGCGCTCCGCAGCTCCTG	0.697											OREG0020752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Ovarian(8;377 410 25844 26058 41491)												0																																										SO:0001631	upstream_gene_variant	100129827			AF214680	CCDS7803.1	11p15.3	2013-01-09			ENSG00000110315	ENSG00000110315		"""RING-type (C3HC4) zinc fingers"""	21159	protein-coding gene	gene with protein product						11672448	Standard	NM_016422		Approved	ZFP26, ZNF230	uc001mis.1	Q8WVD5			11.37:g.10562858C>A	Exception_encountered	665	A8K149|Q9NZB4	RNA	SNP	-	NULL	ENST00000265981.2	37	NULL	CCDS7803.1	11																																																																																			MRVI1-AS1	-	-		0.697	RNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRVI1-AS1	HGNC	protein_coding	OTTHUMT00000385888.1	C	NM_016422		10562858	+1	no_errors	ENST00000529829	ensembl	human	known	70_37	rna	SNP	0.000	A
MYBPC3	4607	genome.wustl.edu	37	11	47354759	47354759	+	Missense_Mutation	SNP	C	C	T	rs377106864		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:47354759C>T	ENST00000545968.1	-	30	3370	c.3316G>A	c.(3316-3318)Gac>Aac	p.D1106N	MYBPC3_ENST00000256993.4_Missense_Mutation_p.D1105N|MYBPC3_ENST00000399249.2_Missense_Mutation_p.D1106N	NM_000256.3	NP_000247.2	Q14896	MYPC3_HUMAN	myosin binding protein C, cardiac	1106	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle contraction (GO:0060048)|cell adhesion (GO:0007155)|heart morphogenesis (GO:0003007)|muscle filament sliding (GO:0030049)|myosin filament assembly (GO:0031034)|positive regulation of ATPase activity (GO:0032781)|regulation of heart rate (GO:0002027)|regulation of muscle filament sliding (GO:0032971)|regulation of striated muscle contraction (GO:0006942)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	A band (GO:0031672)|C zone (GO:0014705)|cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle myosin thick filament (GO:0005863)	ATPase activator activity (GO:0001671)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|myosin binding (GO:0017022)|myosin heavy chain binding (GO:0032036)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GTCTTCTTGTCGGCTTTCTGC	0.642																																																	0													44.0	52.0	49.0					11																	47354759		2023	4175	6198	SO:0001583	missense	4607			X84075	CCDS53621.1	11p11.2	2014-09-17	2001-11-28			ENSG00000134571		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7551	protein-coding gene	gene with protein product		600958	"""myosin-binding protein C, cardiac"""	CMH4		7744002, 8358441	Standard	NM_000256		Approved	MYBP-C, FHC	uc021qis.1	Q14896		ENST00000545968.1:c.3316G>A	11.37:g.47354759C>T	ENSP00000442795:p.Asp1106Asn		A5PL00|Q16410|Q6R2F7|Q9UE27|Q9UM53	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1106N	ENST00000545968.1	37	c.3316	CCDS53621.1	11	.	.	.	.	.	.	.	.	.	.	C	25.3	4.621380	0.87460	.	.	ENSG00000134571	ENST00000545968;ENST00000399249;ENST00000256993	T;T;T	0.56941	0.43;0.43;0.43	5.36	5.36	0.76844	Fibronectin, type III (4);Immunoglobulin-like fold (1);	.	.	.	.	D	0.83243	0.5212	H	0.98155	4.16	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.89680	0.3890	9	0.87932	D	0	.	17.8422	0.88718	0.0:1.0:0.0:0.0	.	1105	Q14896	MYPC3_HUMAN	N	1106;1106;1105	ENSP00000442795:D1106N;ENSP00000382193:D1106N;ENSP00000256993:D1105N	ENSP00000256993:D1105N	D	-	1	0	MYBPC3	47311335	1.000000	0.71417	0.952000	0.39060	0.531000	0.34715	7.455000	0.80726	2.517000	0.84864	0.585000	0.79938	GAC	MYBPC3	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.642	MYBPC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYBPC3	HGNC	protein_coding	OTTHUMT00000392271.3	C			47354759	-1	no_errors	ENST00000399249	ensembl	human	known	70_37	missense	SNP	1.000	T
MYL6	4637	genome.wustl.edu	37	12	56553368	56553368	+	Intron	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:56553368C>G	ENST00000550697.1	+	3	272				MYL6_ENST00000548580.1_Intron|MYL6_ENST00000348108.4_Intron|MYL6_ENST00000551589.1_Intron|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548400.1_Intron|MYL6_ENST00000547649.1_Intron|RP11-977G19.5_ENST00000553176.1_RNA|MYL6_ENST00000549017.1_Intron|MYL6_ENST00000293422.5_Intron|RP11-603J24.14_ENST00000548731.1_RNA|MYL6_ENST00000548293.1_Intron|MYL6_ENST00000536128.1_Intron	NM_021019.4	NP_066299.2	P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle						ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle tissue development (GO:0007519)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|myosin complex (GO:0016459)|unconventional myosin complex (GO:0016461)|vesicle (GO:0031982)	actin-dependent ATPase activity (GO:0030898)|calcium ion binding (GO:0005509)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			TCTGAATCCTCAGAGTTCAAG	0.512																																																	0													112.0	107.0	108.0					12																	56553368		2203	4300	6503	SO:0001627	intron_variant	4637			AB046613	CCDS8906.1, CCDS31834.1	12q13.13	2013-01-10	2006-09-29			ENSG00000092841		"""Myosins / Light chain"", ""EF-hand domain containing"""	7587	protein-coding gene	gene with protein product		609931	"""myosin, light polypeptide 6, alkali, smooth muscle and non-muscle"""			8188229, 2304459, 2722814	Standard	NM_021019		Approved	ESMLC, MLC3NM, MLC1SM	uc001sjx.2	P60660		ENST00000550697.1:c.32-3C>G	12.37:g.56553368C>G			P16475|P24572|P24573|Q12790|Q561V9|Q6IAZ0|Q6IPY5	RNA	SNP	-	NULL	ENST00000550697.1	37	NULL	CCDS8906.1	12																																																																																			MYL6	-	-		0.512	MYL6-003	KNOWN	NAGNAG_splice_site|basic|CCDS	protein_coding	MYL6	HGNC	protein_coding	OTTHUMT00000407928.3	C			56553368	+1	no_errors	ENST00000552297	ensembl	human	known	70_37	rna	SNP	0.979	G
MYO5A	4644	genome.wustl.edu	37	15	52630033	52630033	+	Intron	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:52630033G>A	ENST00000399231.3	-	33	4483				MYO5A_ENST00000358212.6_Missense_Mutation_p.R1430W|MYO5A_ENST00000553916.1_Missense_Mutation_p.R1403W|MYO5A_ENST00000399233.2_Intron|MYO5A_ENST00000356338.6_Intron	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)						actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		AGGGAAATCCGATATGATTGA	0.378																																																	0																																										SO:0001627	intron_variant	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.4240-1280C>T	15.37:g.52630033G>A			A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1430W	ENST00000399231.3	37	c.4288	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973367	0.74246	.	.	ENSG00000197535	ENST00000358212;ENST00000553916;ENST00000399228	D;D;T	0.87029	-2.2;-2.15;0.75	5.56	4.64	0.57946	.	0.000000	0.42964	D	0.000635	D	0.93468	0.7916	.	.	.	0.36665	D	0.878149	D;D	0.89917	1.0;1.0	D;D	0.76575	0.988;0.988	D	0.95891	0.8907	9	0.66056	D	0.02	.	16.5986	0.84803	0.0:0.1302:0.8698:0.0	.	220;223	Q9UES5;O95317	.;.	W	1430;1403;220	ENSP00000350945:R1430W;ENSP00000451109:R1403W;ENSP00000382174:R220W	ENSP00000350945:R1430W	R	-	1	2	MYO5A	50417325	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.729000	0.74775	1.345000	0.45676	0.563000	0.77884	CGG	MYO5A	-	NULL		0.378	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	G	NM_000259		52630033	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO7B	4648	genome.wustl.edu	37	2	128341727	128341727	+	Silent	SNP	C	C	T	rs374298824		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:128341727C>T	ENST00000409816.2	+	12	1406	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	MYO7B_ENST00000389524.4_Silent_p.N458N|MYO7B_ENST00000428314.1_Silent_p.N458N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	458	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTTCGCCAACGAGCACCTGC	0.597																																																	0								C		0,4406		0,0,2203	63.0	65.0	64.0		1374	-9.4	0.1	2		64	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	MYO7B	NM_001080527.1		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		458/2117	128341727	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	4648				CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.1374C>T	2.37:g.128341727C>T			Q14786|Q8TEE1	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom	p.N458	ENST00000409816.2	37	c.1374	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.597	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128341727	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.044	T
MYOC	4653	genome.wustl.edu	37	1	171605823	171605823	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:171605823C>G	ENST00000037502.6	-	3	828	c.757G>C	c.(757-759)Gag>Cag	p.E253Q		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	253	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					GTGAGAGGCTCTCCTACCCAA	0.483																																																	0													81.0	86.0	85.0					1																	171605823		2203	4300	6503	SO:0001583	missense	4653			BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.757G>C	1.37:g.171605823C>G	ENSP00000037502:p.Glu253Gln		B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like	p.E253Q	ENST00000037502.6	37	c.757	CCDS1297.1	1	.	.	.	.	.	.	.	.	.	.	C	10.99	1.506806	0.26949	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000536591;ENST00000537133	D	0.89123	-2.47	5.76	3.88	0.44766	Olfactomedin-like (3);	0.284518	0.44688	N	0.000431	T	0.81403	0.4815	M	0.61703	1.905	0.42799	D	0.993923	B;B	0.27823	0.19;0.183	B;B	0.33196	0.159;0.125	T	0.78924	-0.2012	10	0.49607	T	0.09	.	10.4121	0.44301	0.0:0.7805:0.1452:0.0743	.	195;253	B4DV44;Q99972	.;MYOC_HUMAN	Q	253;206;186;253	ENSP00000037502:E253Q	ENSP00000037502:E253Q	E	-	1	0	MYOC	169872446	1.000000	0.71417	0.997000	0.53966	0.207000	0.24258	3.023000	0.49666	0.759000	0.33084	0.555000	0.69702	GAG	MYOC	-	pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like		0.483	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOC	HGNC	protein_coding	OTTHUMT00000084178.2	C	NM_000261		171605823	-1	no_errors	ENST00000037502	ensembl	human	known	70_37	missense	SNP	0.998	G
MYT1L	23040	genome.wustl.edu	37	2	1820143	1820143	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:1820143C>T	ENST00000399161.2	-	22	3828				MYT1L_ENST00000407844.1_Intron|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000428368.2_Intron	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CCTGGCAATTCCTGGCTCAGG	0.622																																																	0																																										SO:0001627	intron_variant	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.3081-7204G>A	2.37:g.1820143C>T			A7E2C7|B2RP54|Q6IQ17|Q9UPP6	RNA	SNP	-	NULL	ENST00000399161.2	37	NULL		2																																																																																			MYT1L	-	-		0.622	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1820143	-1	no_errors	ENST00000471668	ensembl	human	known	70_37	rna	SNP	0.019	T
NAA15	80155	genome.wustl.edu	37	4	140281017	140281017	+	Missense_Mutation	SNP	G	G	A	rs367731445		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:140281017G>A	ENST00000296543.5	+	12	1701	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	NAA15_ENST00000398947.1_Missense_Mutation_p.E460K	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	460					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CCTGATTAAAGAAGCTGAAGA	0.398																																																	0								G	LYS/GLU	0,3800		0,0,1900	79.0	76.0	77.0		1378	5.9	1.0	4		77	1,8277		0,1,4138	no	missense	NAA15	NM_057175.3	56	0,1,6038	AA,AG,GG		0.0121,0.0,0.0083	benign	460/867	140281017	1,12077	1900	4139	6039	SO:0001583	missense	80155			AY039242	CCDS43270.1	4q31.1	2010-01-14	2010-01-14	2010-01-14	ENSG00000164134	ENSG00000164134		"""N(alpha)-acetyltransferase subunits"""	30782	protein-coding gene	gene with protein product		608000	"""NMDA receptor regulated 1"""	NARG1		12140756, 11478804, 19660095	Standard	XM_005263236		Approved	TBDN100, NATH, FLJ13340	uc003ihu.1	Q9BXJ9	OTTHUMG00000137363	ENST00000296543.5:c.1378G>A	4.37:g.140281017G>A	ENSP00000296543:p.Glu460Lys		D3DNY6|Q52LG9|Q8IWH4|Q8NEV2|Q9H8P6	Missense_Mutation	SNP	pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E460K	ENST00000296543.5	37	c.1378	CCDS43270.1	4	.	.	.	.	.	.	.	.	.	.	G	23.5	4.426366	0.83667	0.0	1.21E-4	ENSG00000164134	ENST00000296543;ENST00000544077;ENST00000398947	T;T	0.54071	0.59;0.59	5.86	5.86	0.93980	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	N	0.24115	0.695	0.80722	D	1	B	0.17852	0.024	B	0.24269	0.052	T	0.23833	-1.0177	10	0.17832	T	0.49	-13.5148	20.1951	0.98241	0.0:0.0:1.0:0.0	.	460	Q9BXJ9	NAA15_HUMAN	K	460;334;460	ENSP00000296543:E460K;ENSP00000381920:E460K	ENSP00000296543:E460K	E	+	1	0	NAA15	140500467	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.345000	0.97053	2.780000	0.95670	0.585000	0.79938	GAA	NAA15	-	pirsf_NatA_aux_su		0.398	NAA15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAA15	HGNC	protein_coding	OTTHUMT00000267839.2	G	NM_057175		140281017	+1	no_errors	ENST00000296543	ensembl	human	known	70_37	missense	SNP	1.000	A
NAIF1	203245	genome.wustl.edu	37	9	130829407	130829407	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:130829407G>C	ENST00000373078.4	-	0	193				NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_5'Flank|SLC25A25_ENST00000373068.2_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1						negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCTTTTTAAAGAAATTATAAT	0.572																																																	0													55.0	60.0	59.0					9																	130829407		2203	4300	6503	SO:0001623	5_prime_UTR_variant	203245			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.-27C>G	9.37:g.130829407G>C			B3KV81|Q8WU12	RNA	SNP	-	NULL	ENST00000373078.4	37	NULL	CCDS6889.1	9																																																																																			NAIF1	-	-		0.572	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	G	NM_197956		130829407	-1	no_errors	ENST00000496649	ensembl	human	known	70_37	rna	SNP	0.616	C
NCR3	259197	genome.wustl.edu	37	6	31557651	31557651	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:31557651C>T	ENST00000340027.5	-	2	559	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	NCR3_ENST00000376072.3_Missense_Mutation_p.R99Q|NCR3_ENST00000376071.4_Missense_Mutation_p.R74Q|NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_Missense_Mutation_p.R99Q	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	99	Ig-like.				cell recognition (GO:0008037)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)	integral component of plasma membrane (GO:0005887)				cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GTCATGGCCTCGCACGTCCCG	0.622																																																	0													140.0	129.0	133.0					6																	31557651		1511	2709	4220	SO:0001583	missense	259197			AB055881	CCDS34397.1, CCDS47401.1, CCDS47402.1	6p21.3	2013-01-11	2002-11-13	2002-11-15	ENSG00000204475	ENSG00000204475		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19077	protein-coding gene	gene with protein product		611550	"""lymphocyte antigen 117"""	LY117		8824804, 11782277	Standard	NM_001145466		Approved	1C7, NKp30, CD337	uc003nuv.2	O14931	OTTHUMG00000031123	ENST00000340027.5:c.296G>A	6.37:g.31557651C>T	ENSP00000342156:p.Arg99Gln		B0S8F2|B0S8F4|B0S8F5|O14930|O14932|O95667|O95668|O95669|Q5ST89|Q5ST90|Q5ST91|Q5ST92|Q5STA3	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R99Q	ENST00000340027.5	37	c.296	CCDS34397.1	6	.	.	.	.	.	.	.	.	.	.	C	0.739	-0.777087	0.02929	.	.	ENSG00000204475	ENST00000340027;ENST00000376073;ENST00000376072;ENST00000376071	T;T;T;T	0.65549	-0.16;-0.16;-0.16;4.33	4.01	-7.14	0.01527	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.405150	0.04900	N	0.451210	T	0.06690	0.0171	N	0.02345	-0.59	0.09310	N	1	B;B;B	0.20261	0.011;0.043;0.04	B;B;B	0.06405	0.0;0.002;0.001	T	0.01863	-1.1258	10	0.02654	T	1	8.3211	3.43	0.07425	0.1239:0.1887:0.1226:0.5649	.	99;99;99	O14931-2;Q05D23;O14931	.;.;NCTR3_HUMAN	Q	99;99;99;74	ENSP00000342156:R99Q;ENSP00000365241:R99Q;ENSP00000365240:R99Q;ENSP00000365239:R74Q	ENSP00000342156:R99Q	R	-	2	0	NCR3	31665630	0.000000	0.05858	0.000000	0.03702	0.310000	0.27922	-0.787000	0.04618	-1.977000	0.00994	-0.237000	0.12165	CGA	NCR3	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.622	NCR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NCR3	HGNC	protein_coding	OTTHUMT00000076210.2	C			31557651	-1	no_errors	ENST00000340027	ensembl	human	known	70_37	missense	SNP	0.000	T
NDUFB11	54539	genome.wustl.edu	37	X	47002088	47002088	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:47002088C>G	ENST00000377811.3	-	2	1087	c.263G>C	c.(262-264)cGa>cCa	p.R88P	RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000377604.3_5'Flank|NDUFB11_ENST00000276062.8_Missense_Mutation_p.R88P|RBM10_ENST00000329236.7_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	88					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						GAAGACAAGTCGCATGTTCCA	0.537																																					Ovarian(77;454 1296 7908 21551 37072)												0													185.0	147.0	160.0					X																	47002088		2203	4300	6503	SO:0001583	missense	54539			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.263G>C	X.37:g.47002088C>G	ENSP00000367042:p.Arg88Pro		Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ESSS_su	p.R88P	ENST00000377811.3	37	c.263	CCDS48100.1	X	.	.	.	.	.	.	.	.	.	.	c	12.70	2.017076	0.35606	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.12	4.12	0.48240	.	0.153137	0.41001	D	0.000963	T	0.72153	0.3425	M	0.76574	2.34	0.34403	D	0.695515	D;D	0.76494	0.998;0.999	D;D	0.66716	0.915;0.946	T	0.81976	-0.0686	9	0.87932	D	0	-3.631	11.4943	0.50400	0.0:1.0:0.0:0.0	.	88;88	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	P	88;92;88	.	ENSP00000276062:R88P	R	-	2	0	NDUFB11	46887032	0.997000	0.39634	0.874000	0.34290	0.083000	0.17756	3.988000	0.56951	1.991000	0.58162	0.538000	0.68166	CGA	NDUFB11	-	pfam_NADH_UbQ_OxRdtase_ESSS_su		0.537	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB11	HGNC	protein_coding	OTTHUMT00000056382.1	C	NM_019056		47002088	-1	no_errors	ENST00000276062	ensembl	human	known	70_37	missense	SNP	0.941	G
NEK9	91754	genome.wustl.edu	37	14	75590851	75590851	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:75590851C>T	ENST00000238616.5	-	2	453	c.295G>A	c.(295-297)Gag>Aag	p.E99K		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	99	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ATAACAATCTCATTCAAGGCA	0.453																																																	0													199.0	152.0	168.0					14																	75590851		2203	4300	6503	SO:0001583	missense	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.295G>A	14.37:g.75590851C>T	ENSP00000238616:p.Glu99Lys		Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E99K	ENST00000238616.5	37	c.295	CCDS9839.1	14	.	.	.	.	.	.	.	.	.	.	C	37	6.245008	0.97408	.	.	ENSG00000119638	ENST00000238616;ENST00000540227	T	0.64803	-0.12	6.17	6.17	0.99709	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89322	0.6682	H	0.99156	4.45	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.92698	0.6172	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	99	Q8TD19	NEK9_HUMAN	K	99;81	ENSP00000238616:E99K	ENSP00000238616:E99K	E	-	1	0	NEK9	74660604	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG	NEK9	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.453	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	C	NM_033116		75590851	-1	no_errors	ENST00000238616	ensembl	human	known	70_37	missense	SNP	1.000	T
NLRC5	84166	genome.wustl.edu	37	16	57104513	57104513	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:57104513G>A	ENST00000262510.6	+	38	4875	c.4650G>A	c.(4648-4650)tgG>tgA	p.W1550*	NLRC5_ENST00000308149.7_Nonsense_Mutation_p.W1521*|NLRC5_ENST00000436936.1_3'UTR|NLRC5_ENST00000539144.1_Nonsense_Mutation_p.W1521*	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1550					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGGGAAATGGATGCTAAAGA	0.542																																																	0													161.0	123.0	136.0					16																	57104513		2198	4300	6498	SO:0001587	stop_gained	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4650G>A	16.37:g.57104513G>A	ENSP00000262510:p.Trp1550*		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.W1550*	ENST00000262510.6	37	c.4650	CCDS10773.1	16	.	.	.	.	.	.	.	.	.	.	G	11.41	1.629227	0.28978	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000539144	.	.	.	4.11	2.04	0.26737	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	6.609	0.22741	0.197:0.5912:0.2118:0.0	.	.	.	.	X	1550;1521;1521	.	ENSP00000262510:W1550X	W	+	3	0	NLRC5	55662014	0.000000	0.05858	0.006000	0.13384	0.158000	0.22134	-0.058000	0.11750	0.450000	0.26774	-0.368000	0.07277	TGG	NLRC5	-	NULL		0.542	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	G	NM_032206		57104513	+1	no_errors	ENST00000262510	ensembl	human	known	70_37	nonsense	SNP	0.001	A
NPAS3	64067	genome.wustl.edu	37	14	34269677	34269677	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:34269677G>A	ENST00000356141.4	+	12	2164	c.2164G>A	c.(2164-2166)Gac>Aac	p.D722N	NPAS3_ENST00000346562.2_Missense_Mutation_p.D690N|NPAS3_ENST00000548645.1_Missense_Mutation_p.D692N|NPAS3_ENST00000357798.5_Missense_Mutation_p.D709N|NPAS3_ENST00000551492.1_Missense_Mutation_p.D727N			Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	722	Gly-rich.				locomotory behavior (GO:0007626)|maternal behavior (GO:0042711)|positive regulation of transcription, DNA-templated (GO:0045893)|startle response (GO:0001964)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		gcccggcgccgacggcgcggc	0.796																																																	0													2.0	3.0	3.0					14																	34269677		939	2206	3145	SO:0001583	missense	64067			AF164438	CCDS9645.1, CCDS53891.1, CCDS53892.1, CCDS55912.1	14q13.1	2013-08-23			ENSG00000151322	ENSG00000151322		"""Basic helix-loop-helix proteins"""	19311	protein-coding gene	gene with protein product		609430					Standard	NM_022123		Approved	MOP6, PASD6, bHLHe12	uc001wru.3	Q8IXF0	OTTHUMG00000140215	ENST00000356141.4:c.2164G>A	14.37:g.34269677G>A	ENSP00000348460:p.Asp722Asn		Q86US6|Q86US7|Q8IXF2|Q9BY81|Q9H323|Q9Y4L8	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.D722N	ENST00000356141.4	37	c.2164	CCDS53891.1	14	.	.	.	.	.	.	.	.	.	.	G	13.85	2.358758	0.41801	.	.	ENSG00000151322	ENST00000551634;ENST00000551492;ENST00000346562;ENST00000548645;ENST00000356141;ENST00000357798	T;T;T;T;T;T	0.06849	3.52;3.39;3.39;3.39;3.39;3.25	4.74	3.85	0.44370	.	0.125026	0.51477	N	0.000092	T	0.06050	0.0157	N	0.14661	0.345	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.04013	0.001;0.0;0.001;0.001	T	0.25676	-1.0125	10	0.72032	D	0.01	.	12.5432	0.56184	0.0801:0.0:0.9198:0.0	.	692;722;690;709	Q8IXF0-2;Q8IXF0;Q8IXF0-4;Q8IXF0-3	.;NPAS3_HUMAN;.;.	N	696;727;690;692;722;709	ENSP00000448373:D696N;ENSP00000450392:D727N;ENSP00000319610:D690N;ENSP00000448916:D692N;ENSP00000348460:D722N;ENSP00000350446:D709N	ENSP00000319610:D690N	D	+	1	0	NPAS3	33339428	1.000000	0.71417	0.993000	0.49108	0.641000	0.38312	8.509000	0.90529	1.203000	0.43233	0.555000	0.69702	GAC	NPAS3	-	NULL		0.796	NPAS3-004	KNOWN	basic|CCDS	protein_coding	NPAS3	HGNC	protein_coding	OTTHUMT00000276645.1	G			34269677	+1	no_errors	ENST00000356141	ensembl	human	known	70_37	missense	SNP	1.000	A
NSUN4	387338	genome.wustl.edu	37	1	46806552	46806552	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:46806552C>T	ENST00000474844.1	+	1	704	c.54C>T	c.(52-54)ctC>ctT	p.L18L	NSUN4_ENST00000536062.1_5'UTR|NSUN4_ENST00000537428.1_5'Flank	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4	18					rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					GTGTGGACCTCGCGACGGTCC	0.607											OREG0013456	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													29.0	30.0	30.0					1																	46806552		2201	4299	6500	SO:0001819	synonymous_variant	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.54C>T	1.37:g.46806552C>T		942	A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	Silent	SNP	pfam_Fmu/NOL1/Nop2p,prints_RCMT	p.L18	ENST00000474844.1	37	c.54	CCDS534.1	1																																																																																			NSUN4	-	NULL		0.607	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	C	NM_199044		46806552	+1	no_errors	ENST00000474844	ensembl	human	known	70_37	silent	SNP	0.001	T
NSUN4	387338	genome.wustl.edu	37	1	46808703	46808703	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:46808703C>T	ENST00000474844.1	+	2	743				NSUN4_ENST00000536062.1_Intron|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000537428.1_Intron	NM_199044.3	NP_950245.2	Q96CB9	NSUN4_HUMAN	NOP2/Sun domain family, member 4						rRNA methylation (GO:0031167)	mitochondrial large ribosomal subunit (GO:0005762)	methyltransferase activity (GO:0008168)|rRNA binding (GO:0019843)			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					CTTTTCCCCTCTGCCTTCCTT	0.532																																																	0																																										SO:0001627	intron_variant	387338			AK021577	CCDS534.1, CCDS57996.1	1p34	2012-02-24	2009-11-23		ENSG00000117481	ENSG00000117481		"""NOP2/Sun domain containing"""	31802	protein-coding gene	gene with protein product	"""sperm head and tail associated protein"""	615394	"""NOL1/NOP2/Sun domain family 4"", ""NOL1/NOP2/Sun domain family, member 4"""				Standard	NM_199044		Approved	MGC22960, SHTAP	uc001cpr.2	Q96CB9	OTTHUMG00000007808	ENST00000474844.1:c.94-1770C>T	1.37:g.46808703C>T			A8K6S6|B3KQ50|B4DHA4|Q5TDF7|Q96AN8|Q9HAJ8	RNA	SNP	-	NULL	ENST00000474844.1	37	NULL	CCDS534.1	1																																																																																			NSUN4	-	-		0.532	NSUN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSUN4	HGNC	protein_coding	OTTHUMT00000021427.1	C	NM_199044		46808703	+1	no_errors	ENST00000498008	ensembl	human	known	70_37	rna	SNP	0.002	T
NT5C2	22978	genome.wustl.edu	37	10	104860427	104860427	+	Intron	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:104860427G>A	ENST00000404739.3	-	6	563				NT5C2_ENST00000423468.2_Intron|NT5C2_ENST00000343289.5_Intron|NT5C2_ENST00000369857.4_5'UTR			P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II						cell death (GO:0008219)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|nucleobase-containing small molecule metabolic process (GO:0055086)|phosphorylation (GO:0016310)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	5'-nucleotidase activity (GO:0008253)|metal ion binding (GO:0046872)|nucleoside phosphotransferase activity (GO:0050146)|nucleotide binding (GO:0000166)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	taccatccctgaatggctcct	0.393																																																	0																																										SO:0001627	intron_variant	22978			D38524	CCDS7544.1	10q24.32	2014-03-03	2002-04-18	2002-04-19	ENSG00000076685	ENSG00000076685			8022	protein-coding gene	gene with protein product	"""purine 5' nucleotidase"""	600417	"""5'-nucleotidase (purine), cytosolic type B"""	NT5B		7999131, 24482476	Standard	NM_012229		Approved	PNT5, GMP, cN-II, SPG65	uc001kwq.3	P49902	OTTHUMG00000018981	ENST00000404739.3:c.539+374C>T	10.37:g.104860427G>A			B7Z382|D3DR91|Q5JUV5	RNA	SNP	-	NULL	ENST00000404739.3	37	NULL	CCDS7544.1	10																																																																																			NT5C2	-	-		0.393	NT5C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5C2	HGNC	protein_coding	OTTHUMT00000050121.1	G	NM_012229		104860427	-1	no_errors	ENST00000369857	ensembl	human	known	70_37	rna	SNP	1.000	A
OR4S1	256148	genome.wustl.edu	37	11	48327898	48327898	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:48327898C>T	ENST00000319988.1	+	1	124	c.124C>T	c.(124-126)Ctg>Ttg	p.L42L		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	42						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GGGGAACCTTCTGGTCATCAT	0.433																																																	0													261.0	214.0	230.0					11																	48327898		2201	4288	6489	SO:0001819	synonymous_variant	256148			AB065908	CCDS31488.1	11p11.2	2012-08-09			ENSG00000176555	ENSG00000176555		"""GPCR / Class A : Olfactory receptors"""	14705	protein-coding gene	gene with protein product							Standard	NM_001004725		Approved		uc010rhu.2	Q8NGB4	OTTHUMG00000166578	ENST00000319988.1:c.124C>T	11.37:g.48327898C>T			Q6IFB4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L42	ENST00000319988.1	37	c.124	CCDS31488.1	11																																																																																			OR4S1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR4S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4S1	HGNC	protein_coding	OTTHUMT00000390556.1	C	NM_001004725		48327898	+1	no_errors	ENST00000319988	ensembl	human	known	70_37	silent	SNP	0.012	T
OTOGL	283310	genome.wustl.edu	37	12	80651706	80651706	+	Missense_Mutation	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:80651706C>A	ENST00000547103.1	+	17	1792	c.1786C>A	c.(1786-1788)Cag>Aag	p.Q596K	OTOGL_ENST00000458043.2_Missense_Mutation_p.Q596K			Q3ZCN5	OTOGL_HUMAN	otogelin-like	596	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						AATTTATATTCAGCTTACTAG	0.323																																																	0													143.0	136.0	138.0					12																	80651706		1845	4088	5933	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.1786C>A	12.37:g.80651706C>A	ENSP00000447211:p.Gln596Lys		F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.Q596K	ENST00000547103.1	37	c.1786		12	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214986	0.58452	.	.	ENSG00000165899	ENST00000547103;ENST00000458043	T;T	0.58506	0.33;0.33	5.74	5.74	0.90152	.	.	.	.	.	T	0.44973	0.1319	N	0.11651	0.15	0.48395	D	0.999649	.	.	.	.	.	.	T	0.38929	-0.9638	7	0.20519	T	0.43	.	14.724	0.69329	0.1448:0.8552:0.0:0.0	.	.	.	.	K	596	ENSP00000447211:Q596K;ENSP00000400895:Q596K	ENSP00000400895:Q596K	Q	+	1	0	OTOGL	79175837	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	4.383000	0.59600	2.723000	0.93209	0.655000	0.94253	CAG	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D		0.323	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80651706	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	1.000	A
OVCH2	341277	genome.wustl.edu	37	11	7712481	7712481	+	RNA	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:7712481G>T	ENST00000533663.1	-	0	358				OVCH2_ENST00000534193.2_RNA|OVCH2_ENST00000454689.1_RNA			Q7RTZ1	OVCH2_HUMAN	ovochymase 2 (gene/pseudogene)							extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			cervix(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(2)	15				Epithelial(150;7.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.197)		CCAAAGAGTTGGTAACTCTAT	0.438																																																	0													59.0	56.0	57.0					11																	7712481		1880	4103	5983			341277			BN000120	CCDS73251.1	11p15.4	2012-10-02	2010-06-08		ENSG00000183378	ENSG00000183378			29970	protein-coding gene	gene with protein product			"""ovochymase 2"""			12838346	Standard	XM_006718221		Approved	OVTN	uc031pyw.1	Q7RTZ1	OTTHUMG00000165418		11.37:g.7712481G>T				Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P553Q	ENST00000533663.1	37	c.1658		11	.	.	.	.	.	.	.	.	.	.	G	11.01	1.512964	0.27123	.	.	ENSG00000183378	ENST00000454689	D	0.86562	-2.14	4.83	-4.3	0.03710	.	9.788910	0.00397	N	0.000044	T	0.71065	0.3296	N	0.08118	0	0.09310	N	1	B	0.15141	0.012	B	0.08055	0.003	T	0.59547	-0.7434	10	0.56958	D	0.05	14.6571	1.893	0.03252	0.2733:0.3881:0.2073:0.1312	.	553	Q7RTZ1	OVCH2_HUMAN	Q	553	ENSP00000407158:P553Q	ENSP00000407158:P553Q	P	-	2	0	OVCH2	7669057	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.510000	0.06328	-0.538000	0.06281	-0.302000	0.09304	CCA	OVCH2	-	NULL		0.438	OVCH2-002	KNOWN	basic	processed_transcript	OVCH2	HGNC	polymorphic_pseudogene	OTTHUMT00000383928.1	G	NM_198185		7712481	-1	no_errors	ENST00000454689	ensembl	human	known	70_37	missense	SNP	0.000	T
PCDHA12	56137	genome.wustl.edu	37	5	140256735	140256735	+	Missense_Mutation	SNP	G	G	A	rs370292278		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:140256735G>A	ENST00000398631.2	+	1	1678	c.1678G>A	c.(1678-1680)Gac>Aac	p.D560N	PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1	Q9UN75	PCDAC_HUMAN	protocadherin alpha 12	560	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGAGAACGACAACGCGCC	0.701																																					Pancreas(113;759 1672 13322 24104 50104)												0													149.0	154.0	152.0					5																	140256735		2203	4299	6502	SO:0001583	missense	56137			AF152477	CCDS47285.1, CCDS75327.1	5q31	2010-11-26			ENSG00000251664	ENSG00000251664		"""Cadherins / Protocadherins : Clustered"""	8666	other	complex locus constituent	"""KIAA0345-like 2"""	606318				10380929	Standard	NM_018903		Approved	PCDH-ALPHA12	uc003lic.2	Q9UN75	OTTHUMG00000163366	ENST00000398631.2:c.1678G>A	5.37:g.140256735G>A	ENSP00000381628:p.Asp560Asn		O75278|Q2M1N8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.D560N	ENST00000398631.2	37	c.1678	CCDS47285.1	5	.	.	.	.	.	.	.	.	.	.	G	19.79	3.893058	0.72524	.	.	ENSG00000251664	ENST00000398631	T	0.64085	-0.08	4.92	4.92	0.64577	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.85553	0.5723	H	0.95574	3.69	0.45161	D	0.998172	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.90382	0.4389	9	0.87932	D	0	.	17.695	0.88278	0.0:0.0:1.0:0.0	.	560;560	Q9UN75-2;Q9UN75	.;PCDAC_HUMAN	N	560	ENSP00000381628:D560N	ENSP00000381628:D560N	D	+	1	0	PCDHA12	140236919	1.000000	0.71417	1.000000	0.80357	0.214000	0.24535	9.189000	0.94928	2.271000	0.75665	0.561000	0.74099	GAC	PCDHA12	-	superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin		0.701	PCDHA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA12	HGNC	protein_coding	OTTHUMT00000372882.2	G	NM_018903		140256735	+1	no_errors	ENST00000398631	ensembl	human	known	70_37	missense	SNP	1.000	A
PCOLCE	5118	genome.wustl.edu	37	7	100201588	100201588	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:100201588G>A	ENST00000223061.5	+	3	491	c.211G>A	c.(211-213)Gag>Aag	p.E71K	PCOLCE-AS1_ENST00000544873.1_RNA|PCOLCE-AS1_ENST00000446022.1_RNA|PCOLCE_ENST00000496269.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	71	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TCAGGTCCCCGAGGGCCAGAC	0.647																																																	0													55.0	59.0	58.0					7																	100201588		2203	4300	6503	SO:0001583	missense	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.211G>A	7.37:g.100201588G>A	ENSP00000223061:p.Glu71Lys		B2R9E1|O14550	Missense_Mutation	SNP	pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain	p.E71K	ENST00000223061.5	37	c.211	CCDS5700.1	7	.	.	.	.	.	.	.	.	.	.	G	17.05	3.290830	0.59976	.	.	ENSG00000106333	ENST00000223061	T	0.17054	2.3	4.6	2.69	0.31865	CUB (5);	0.119417	0.56097	N	0.000036	T	0.15609	0.0376	L	0.49699	1.58	0.52501	D	0.999951	B;B	0.19073	0.002;0.033	B;B	0.21708	0.003;0.036	T	0.04565	-1.0942	10	0.54805	T	0.06	-8.4907	7.5468	0.27772	0.2317:0.0:0.7683:0.0	.	71;71	B4DPJ4;Q15113	.;PCOC1_HUMAN	K	71	ENSP00000223061:E71K	ENSP00000223061:E71K	E	+	1	0	PCOLCE	100039524	1.000000	0.71417	0.936000	0.37596	0.805000	0.45488	4.623000	0.61247	0.507000	0.28148	0.462000	0.41574	GAG	PCOLCE	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.647	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCOLCE	HGNC	protein_coding	OTTHUMT00000345285.1	G	NM_002593		100201588	+1	no_errors	ENST00000223061	ensembl	human	known	70_37	missense	SNP	0.998	A
PDE8B	8622	genome.wustl.edu	37	5	76633065	76633065	+	Missense_Mutation	SNP	A	A	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:76633065A>C	ENST00000264917.5	+	6	767	c.722A>C	c.(721-723)aAt>aCt	p.N241T	PDE8B_ENST00000340978.3_Missense_Mutation_p.N241T|PDE8B_ENST00000346042.3_Missense_Mutation_p.N241T|PDE8B_ENST00000333194.4_Missense_Mutation_p.N241T|PDE8B_ENST00000342343.4_Missense_Mutation_p.N221T	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	241					cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|negative regulation of insulin secretion (GO:0046676)|negative regulation of steroid hormone biosynthetic process (GO:0090032)|phosphorelay signal transduction system (GO:0000160)	cytosol (GO:0005829)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)	Caffeine(DB00201)|Ketotifen(DB00920)	TTTATGGAGAATAGCAGCATA	0.333																																																	0													69.0	68.0	68.0					5																	76633065		2203	4299	6502	SO:0001583	missense	8622			AF079529	CCDS4037.1, CCDS34190.1, CCDS34191.1, CCDS34192.1, CCDS34193.1	5q14.1	2008-05-15			ENSG00000113231	ENSG00000113231	3.1.4.17	"""Phosphodiesterases"""	8794	protein-coding gene	gene with protein product		603390				9784418	Standard	NM_003719		Approved		uc003kfa.3	O95263	OTTHUMG00000102170	ENST00000264917.5:c.722A>C	5.37:g.76633065A>C	ENSP00000264917:p.Asn241Thr		Q5J7V7|Q86XK8|Q8IUJ7|Q8IUJ8|Q8IUJ9|Q8IUK0|Q8N3T2	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS	p.N241T	ENST00000264917.5	37	c.722	CCDS4037.1	5	.	.	.	.	.	.	.	.	.	.	A	17.41	3.382127	0.61845	.	.	ENSG00000113231	ENST00000340978;ENST00000346042;ENST00000264917;ENST00000342343;ENST00000333194;ENST00000503963	T;T;T;T;T;T	0.79141	1.02;1.02;1.02;1.02;1.02;-1.24	5.95	5.95	0.96441	Signal transduction response regulator, receiver domain (1);	0.044428	0.85682	D	0.000000	D	0.84474	0.5480	L	0.49350	1.555	0.80722	D	1	D;D;D;D;D	0.76494	0.991;0.985;0.999;0.959;0.967	D;P;D;P;P	0.74023	0.938;0.828;0.982;0.749;0.838	D	0.83786	0.0228	10	0.40728	T	0.16	.	15.4063	0.74881	1.0:0.0:0.0:0.0	.	241;241;241;221;241	O95263-2;O95263-6;O95263-3;O95263-4;O95263	.;.;.;.;PDE8B_HUMAN	T	241;241;241;221;241;3	ENSP00000345446:N241T;ENSP00000330428:N241T;ENSP00000264917:N241T;ENSP00000345646:N221T;ENSP00000331336:N241T;ENSP00000422861:N3T	ENSP00000264917:N241T	N	+	2	0	PDE8B	76668821	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.382000	0.79729	2.279000	0.76181	0.533000	0.62120	AAT	PDE8B	-	pfam_Sig_transdc_resp-reg_receiver		0.333	PDE8B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PDE8B	HGNC	protein_coding	OTTHUMT00000220015.3	A	NM_003719		76633065	+1	no_errors	ENST00000264917	ensembl	human	known	70_37	missense	SNP	1.000	C
PHGDH	26227	genome.wustl.edu	37	1	120286679	120286679	+	3'UTR	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:120286679G>T	ENST00000369409.4	+	0	1754				PHGDH_ENST00000482968.1_3'UTR|PHGDH_ENST00000369407.3_3'UTR	NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase						brain development (GO:0007420)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|G1 to G0 transition (GO:0070314)|gamma-aminobutyric acid metabolic process (GO:0009448)|glial cell development (GO:0021782)|glutamine metabolic process (GO:0006541)|glycine metabolic process (GO:0006544)|L-serine biosynthetic process (GO:0006564)|neural tube development (GO:0021915)|neuron projection development (GO:0031175)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|spinal cord development (GO:0021510)|taurine metabolic process (GO:0019530)|threonine metabolic process (GO:0006566)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|phosphoglycerate dehydrogenase activity (GO:0004617)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)		GAGCTCACTGGTCCCTGCCTC	0.552											OREG0013728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													94.0	87.0	89.0					1																	120286679		2203	4300	6503	SO:0001624	3_prime_UTR_variant	26227			BC011262	CCDS904.1	1p12	2008-02-05			ENSG00000092621	ENSG00000092621	1.1.1.95		8923	protein-coding gene	gene with protein product		606879					Standard	NM_006623		Approved	SERA, PGDH, PDG	uc001ehz.3	O43175	OTTHUMG00000012100	ENST00000369409.4:c.*16G>T	1.37:g.120286679G>T		1502	B2RD08|Q5SZU3|Q9BQ01	RNA	SNP	-	NULL	ENST00000369409.4	37	NULL	CCDS904.1	1																																																																																			PHGDH	-	-		0.552	PHGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHGDH	HGNC	protein_coding	OTTHUMT00000033464.1	G	NM_006623		120286679	+1	no_errors	ENST00000482968	ensembl	human	known	70_37	rna	SNP	0.001	T
SLC25A22	79751	genome.wustl.edu	37	11	799519	799519	+	5'Flank	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:799519C>A	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Nonsense_Mutation_p.E841*|PIDD_ENST00000411829.2_Nonsense_Mutation_p.E824*	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTGGCGCTCAGCCCAGGAG	0.667																																					Colon(93;848 1468 3270 23355 49636)												0													33.0	32.0	32.0					11																	799519		2199	4290	6489	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.799519C>A	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Nonsense_Mutation	SNP	pfam_Peptidase_S68_pidd,pfam_Death,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,smart_Death,pfscan_Death,pfscan_ZU5	p.E841*	ENST00000531214.1	37	c.2521	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	C	39	7.550252	0.98352	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	.	.	.	4.74	4.74	0.60224	.	0.255345	0.33938	N	0.004419	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	7.8494	0.29446	0.0:0.6882:0.2197:0.092	.	.	.	.	X	824;841	.	ENSP00000337797:E841X	E	-	1	0	PIDD	789519	0.999000	0.42202	0.990000	0.47175	0.783000	0.44284	3.726000	0.54977	2.338000	0.79540	0.448000	0.29417	GAG	PIDD	-	pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death		0.667	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000384124.1	C			799519	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	nonsense	SNP	0.236	A
SLC25A22	79751	genome.wustl.edu	37	11	800015	800015	+	5'Flank	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:800015C>T	ENST00000531214.1	-	0	0				PIDD_ENST00000347755.5_Splice_Site|PIDD_ENST00000411829.2_Splice_Site	NM_001191060.1	NP_001177989.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22						L-glutamate transport (GO:0015813)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTCGAAGTCTCTGTTGGAAGG	0.647																																					Colon(93;848 1468 3270 23355 49636)												0													21.0	28.0	26.0					11																	800015		2193	4276	6469	SO:0001631	upstream_gene_variant	55367			AJ428202	CCDS7715.1	11p15.5	2013-05-22			ENSG00000177542	ENSG00000177542		"""Solute carriers"""	19954	protein-coding gene	gene with protein product		609302				11897791	Standard	NM_024698		Approved	GC1, FLJ13044, NET44, EIEE3	uc001lrj.3	Q9H936	OTTHUMG00000133310		11.37:g.800015C>T	Exception_encountered		A8K366|C9J1H6|E9PJD3|E9PKB2|E9PL68|E9PN26|E9PNQ3|E9PP01|E9PR97|Q8TBU8	Splice_Site	SNP	-	e14-1	ENST00000531214.1	37	c.2275-1	CCDS7715.1	11	.	.	.	.	.	.	.	.	.	.	C	7.541	0.660668	0.14645	.	.	ENSG00000177595	ENST00000411829;ENST00000347755	.	.	.	4.24	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3073	0.43689	0.0:0.7799:0.2201:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PIDD	790015	1.000000	0.71417	0.930000	0.37139	0.031000	0.12232	1.777000	0.38604	2.193000	0.70182	0.462000	0.41574	.	PIDD	-	-		0.647	SLC25A22-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PIDD	HGNC	protein_coding	OTTHUMT00000384124.1	C			800015	-1	no_errors	ENST00000347755	ensembl	human	known	70_37	splice_site	SNP	0.977	T
PIEZO1	9780	genome.wustl.edu	37	16	88804492	88804492	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:88804492G>A	ENST00000301015.9	-	8	1116	c.870C>T	c.(868-870)ttC>ttT	p.F290F	RP5-1142A6.2_ENST00000440406.2_RNA|RP5-1142A6.2_ENST00000567968.1_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	290					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TGGGACCCACGAAGTCCTTGA	0.677																																																	0													58.0	76.0	70.0					16																	88804492		692	1591	2283	SO:0001819	synonymous_variant	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.870C>T	16.37:g.88804492G>A			A6NHT9|A7E2B7|Q0KKZ9	Silent	SNP	pfam_DUF3595	p.F290	ENST00000301015.9	37	c.870	CCDS54058.1	16	.	.	.	.	.	.	.	.	.	.	G	2.877	-0.232775	0.05983	.	.	ENSG00000103335	ENST00000451779	.	.	.	5.35	-3.5	0.04710	.	.	.	.	.	T	0.38188	0.1031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.30001	-0.9993	4	.	.	.	.	1.6029	0.02678	0.1881:0.228:0.38:0.2039	.	.	.	.	C	236	.	.	R	-	1	0	FAM38A	87331993	0.000000	0.05858	0.079000	0.20413	0.154000	0.21943	-0.547000	0.06055	-0.986000	0.03498	-1.437000	0.01076	CGT	PIEZO1	-	NULL		0.677	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	G	NM_014745		88804492	-1	no_errors	ENST00000301015	ensembl	human	novel	70_37	silent	SNP	0.985	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PIPSL	266971	genome.wustl.edu	37	10	95720338	95720338	+	RNA	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:95720338G>C	ENST00000480546.1	-	0	959					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TTGACATCAAGAGGCTATAAT	0.463																																																	0																																												266971			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95720338G>C			Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-		0.463	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	G	NR_002319		95720338	-1	no_errors	ENST00000480546	ensembl	human	putative	70_37	rna	SNP	0.858	C
PIWIL2	55124	genome.wustl.edu	37	8	22141712	22141712	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:22141712C>T	ENST00000454009.2	+	6	1179	c.670C>T	c.(670-672)Cag>Tag	p.Q224*	PIWIL2_ENST00000521356.1_Nonsense_Mutation_p.Q224*|PIWIL2_ENST00000356766.6_Nonsense_Mutation_p.Q224*	NM_001135721.1	NP_001129193.1	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	224					DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|germ-line stem cell maintenance (GO:0030718)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|piRNA metabolic process (GO:0034587)|positive regulation of meiosis I (GO:0060903)|positive regulation of translation (GO:0045727)|RNA 5'-end processing (GO:0000966)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|P granule (GO:0043186)|pi-body (GO:0071546)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGGAACACCTCAGTCTTTGGG	0.328																																																	0													139.0	122.0	128.0					8																	22141712		2203	4300	6503	SO:0001587	stop_gained	55124			AK001213	CCDS6029.1	8p24	2013-02-15	2013-02-15		ENSG00000197181	ENSG00000197181		"""Argonaute/PIWI family"""	17644	protein-coding gene	gene with protein product	"""Hiwi-like"", ""cancer/testis antigen 80"""	610312	"""piwi-like 2 (Drosophila)"""			11279525, 12906857	Standard	NM_018068		Approved	HILI, FLJ10351, Mili, CT80	uc003xbn.2	Q8TC59	OTTHUMG00000097767	ENST00000454009.2:c.670C>T	8.37:g.22141712C>T	ENSP00000406956:p.Gln224*		A8K4S3|A8K8S5|B0AZN9|B0AZP2|B4DR22|E7ECA4|Q96SW6|Q9NW28	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q224*	ENST00000454009.2	37	c.670	CCDS6029.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.939694	0.97128	.	.	ENSG00000197181	ENST00000356766;ENST00000521356;ENST00000454009	.	.	.	5.6	4.67	0.58626	.	0.467786	0.23367	N	0.048946	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-15.9075	4.1637	0.10296	0.1638:0.5935:0.158:0.0846	.	.	.	.	X	224	.	ENSP00000349208:Q224X	Q	+	1	0	PIWIL2	22197657	0.039000	0.19947	0.998000	0.56505	0.967000	0.64934	0.596000	0.24044	2.644000	0.89710	0.563000	0.77884	CAG	PIWIL2	-	superfamily_PAZ		0.328	PIWIL2-003	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	PIWIL2	HGNC	protein_coding	OTTHUMT00000375438.1	C			22141712	+1	no_errors	ENST00000356766	ensembl	human	known	70_37	nonsense	SNP	0.596	T
PKMYT1	9088	genome.wustl.edu	37	16	3026898	3026898	+	Silent	SNP	G	G	T	rs375676053		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:3026898G>T	ENST00000262300.8	-	3	653	c.145C>A	c.(145-147)Cgg>Agg	p.R49R	PKMYT1_ENST00000440027.2_Silent_p.R49R|PKMYT1_ENST00000431515.2_Silent_p.R49R|PKMYT1_ENST00000573944.1_Silent_p.R40R|PKMYT1_ENST00000574385.1_Silent_p.R40R|PKMYT1_ENST00000574730.1_Intron	NM_001258450.1|NM_004203.4|NM_182687.2	NP_001245379.1|NP_004194.3|NP_872629.1	Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	49	Pro-rich.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GGGAGGCTCCGGCTGAGCCCC	0.706																																																	0													8.0	11.0	10.0					16																	3026898		2065	4170	6235	SO:0001819	synonymous_variant	9088			AK097642	CCDS10486.1, CCDS45391.1, CCDS58414.1, CCDS58415.1	16p13.3	2014-06-13			ENSG00000127564	ENSG00000127564			29650	protein-coding gene	gene with protein product	"""membrane-associated tyrosine- and threonine-specific cdc2-inhibitory kinase"", ""protein phosphatase 1, regulatory subunit 126"""	602474				9001210, 12606722	Standard	NM_004203		Approved	MYT1, PPP1R126	uc002csn.3	Q99640	OTTHUMG00000128975	ENST00000262300.8:c.145C>A	16.37:g.3026898G>T			B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom	p.R49	ENST00000262300.8	37	c.145	CCDS10486.1	16																																																																																			PKMYT1	-	pirsf_Tyr/Thr_kinase_Cdc2_inhib		0.706	PKMYT1-001	KNOWN	basic|CCDS	protein_coding	PKMYT1	HGNC	protein_coding	OTTHUMT00000250963.2	G	NM_004203		3026898	-1	no_errors	ENST00000262300	ensembl	human	known	70_37	silent	SNP	0.947	T
PLEKHH2	130271	genome.wustl.edu	37	2	43924496	43924496	+	Splice_Site	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:43924496G>T	ENST00000282406.4	+	7	798		c.e7+1			NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2						negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GACATGGAAGGTATTTATGAA	0.333																																																	0													57.0	56.0	56.0					2																	43924496		2203	4300	6503	SO:0001630	splice_region_variant	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.688+1G>T	2.37:g.43924496G>T			Q5JPJ6|Q6P4Q1|Q8N3Q3	Splice_Site	SNP	-	e6+1	ENST00000282406.4	37	c.688+1	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	G	18.60	3.659011	0.67586	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.14	5.14	0.70334	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7889	0.85582	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PLEKHH2	43778000	1.000000	0.71417	1.000000	0.80357	0.866000	0.49608	6.277000	0.72608	2.389000	0.81357	0.650000	0.86243	.	PLEKHH2	-	-		0.333	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	HGNC	protein_coding	OTTHUMT00000250537.1	G	NM_172069	Intron	43924496	+1	no_errors	ENST00000282406	ensembl	human	known	70_37	splice_site	SNP	1.000	T
POLQ	10721	genome.wustl.edu	37	3	121190912	121190912	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:121190912G>A	ENST00000264233.5	-	22	6771	c.6643C>T	c.(6643-6645)Cag>Tag	p.Q2215*		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2215					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTCCCGCTGAAGGGGAAAG	0.373								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													65.0	66.0	66.0					3																	121190912		2203	4300	6503	SO:0001587	stop_gained	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6643C>T	3.37:g.121190912G>A	ENSP00000264233:p.Gln2215*		O95160|Q6VMB5	Nonsense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.Q2215*	ENST00000264233.5	37	c.6643	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	48	14.621701	0.99803	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	.	.	.	5.16	5.16	0.70880	.	0.102111	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	.	19.1909	0.93666	0.0:0.0:1.0:0.0	.	.	.	.	X	1838;2215;2351	.	ENSP00000264233:Q2215X	Q	-	1	0	POLQ	122673602	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.146000	0.94640	2.847000	0.97988	0.591000	0.81541	CAG	POLQ	-	NULL		0.373	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121190912	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PRMT7	54496	genome.wustl.edu	37	16	68371361	68371361	+	Splice_Site	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:68371361G>A	ENST00000339507.5	+	7	1221		c.e7-1		PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000564441.1_Splice_Site|PRMT7_ENST00000449359.3_Splice_Site|PRMT7_ENST00000441236.1_Splice_Site			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7						cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		GTGTTTTTCAGAGGGTGACAT	0.488																																																	0													77.0	73.0	74.0					16																	68371361		2198	4300	6498	SO:0001630	splice_region_variant	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.392-1G>A	16.37:g.68371361G>A			B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Splice_Site	SNP	-	e5-1	ENST00000339507.5	37	c.392-1	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186258	0.78789	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000339507	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5388	0.84380	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PRMT7	66928862	1.000000	0.71417	1.000000	0.80357	0.834000	0.47266	9.517000	0.98020	2.509000	0.84616	0.484000	0.47621	.	PRMT7	-	-		0.488	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	G	NM_019023	Intron	68371361	+1	no_errors	ENST00000339507	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PRMT7	54496	genome.wustl.edu	37	16	68371400	68371400	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:68371400G>C	ENST00000339507.5	+	7	1260	c.430G>C	c.(430-432)Gag>Cag	p.E144Q	PRMT7_ENST00000348497.4_Intron|PRMT7_ENST00000564441.1_3'UTR|PRMT7_ENST00000449359.3_Missense_Mutation_p.E94Q|PRMT7_ENST00000441236.1_Missense_Mutation_p.E94Q			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	144	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|histone arginine methylation (GO:0034969)|histone methylation (GO:0016571)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|peptidyl-arginine methylation, to symmetrical-dimethyl arginine (GO:0019918)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of protein binding (GO:0043393)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal snRNP assembly (GO:0000387)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	[myelin basic protein]-arginine N-methyltransferase activity (GO:0016277)|histone binding (GO:0042393)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|histone-arginine N-methyltransferase activity (GO:0008469)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)|protein-arginine omega-N monomethyltransferase activity (GO:0035241)|protein-arginine omega-N symmetric methyltransferase activity (GO:0035243)|ribonucleoprotein complex binding (GO:0043021)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CCTGGTCACAGAGTTGTTTGA	0.522																																																	0													90.0	86.0	88.0					16																	68371400		2198	4300	6498	SO:0001583	missense	54496			AK001502	CCDS10866.1, CCDS54033.1	16q22.1	2008-02-05			ENSG00000132600	ENSG00000132600		"""Protein arginine methyltransferases"""	25557	protein-coding gene	gene with protein product		610087				15044439	Standard	NM_001184824		Approved	FLJ10640, KIAA1933	uc002evy.2	Q9NVM4	OTTHUMG00000137556	ENST00000339507.5:c.430G>C	16.37:g.68371400G>C	ENSP00000343103:p.Glu144Gln		B3KPR0|B3KUG9|B4E379|Q96PV5|Q9H9L0	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7	p.E144Q	ENST00000339507.5	37	c.430	CCDS10866.1	16	.	.	.	.	.	.	.	.	.	.	G	23.0	4.358150	0.82243	.	.	ENSG00000132600	ENST00000449359;ENST00000441236;ENST00000339507	T;T;T	0.24538	1.85;1.85;1.85	5.49	4.54	0.55810	.	0.000000	0.85682	D	0.000000	T	0.63558	0.2521	H	0.96970	3.915	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.75167	-0.3413	10	0.87932	D	0	-28.891	12.0425	0.53460	0.084:0.0:0.916:0.0	.	94;144;144	Q9NVM4-3;Q9NVM4;Q9NVM4-4	.;ANM7_HUMAN;.	Q	94;94;144	ENSP00000414716:E94Q;ENSP00000409324:E94Q;ENSP00000343103:E144Q	ENSP00000343103:E144Q	E	+	1	0	PRMT7	66928901	1.000000	0.71417	0.997000	0.53966	0.648000	0.38561	9.517000	0.98020	1.326000	0.45319	0.484000	0.47621	GAG	PRMT7	-	pirsf_Arg_MeTrfase_PRMT7		0.522	PRMT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT7	HGNC	protein_coding	OTTHUMT00000268892.3	G	NM_019023		68371400	+1	no_errors	ENST00000339507	ensembl	human	known	70_37	missense	SNP	0.999	C
PROM2	150696	genome.wustl.edu	37	2	95947744	95947744	+	Silent	SNP	C	C	T	rs541032487	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:95947744C>T	ENST00000317620.9	+	13	1756	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	PROM2_ENST00000542147.1_Silent_p.I541I|PROM2_ENST00000403131.2_Silent_p.I541I|PROM2_ENST00000317668.4_Silent_p.I541I	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	541					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGAAGAACATCAGCATCCACC	0.622													C|||	3	0.000599042	0.0	0.0	5008	,	,		18498	0.0		0.0	False		,,,				2504	0.0031																0													94.0	82.0	86.0					2																	95947744		2203	4300	6503	SO:0001819	synonymous_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.1623C>T	2.37:g.95947744C>T			A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	pfam_Prominin	p.I541	ENST00000317620.9	37	c.1623	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin		0.622	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95947744	+1	no_errors	ENST00000317620	ensembl	human	known	70_37	silent	SNP	0.984	T
PROSER1	80209	genome.wustl.edu	37	13	39587134	39587134	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:39587134G>C	ENST00000352251.3	-	11	3088	c.2255C>G	c.(2254-2256)tCt>tGt	p.S752C	PROSER1_ENST00000484434.3_Intron|PROSER1_ENST00000350125.3_Missense_Mutation_p.S730C	NM_025138.4	NP_079414.3	Q86XN7	PRSR1_HUMAN	proline and serine rich 1	752	Ser-rich.																TGCTGAAGCAGAAAGCCCTGA	0.522																																																	0													144.0	151.0	149.0					13																	39587134		2203	4300	6503	SO:0001583	missense	80209			AK022723	CCDS9368.2	13q13.2	2011-08-09	2011-08-09	2011-08-09	ENSG00000120685	ENSG00000120685			20291	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 23"""	C13orf23			Standard	NM_025138		Approved	bA50D16.2, FLJ12661	uc001uwy.4	Q86XN7	OTTHUMG00000016764	ENST00000352251.3:c.2255C>G	13.37:g.39587134G>C	ENSP00000332034:p.Ser752Cys		A6NJ97|Q6P2S2|Q7Z3X5|Q8N3D2|Q8N3P1|Q9H9M1	Missense_Mutation	SNP	NULL	p.S730C	ENST00000352251.3	37	c.2189	CCDS9368.2	13	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151479	0.57151	.	.	ENSG00000120685	ENST00000352251;ENST00000350125	T;T	0.33438	1.42;1.41	5.21	5.21	0.72293	.	.	.	.	.	T	0.32071	0.0817	N	0.24115	0.695	0.20403	N	0.999907	D;P	0.54964	0.969;0.786	P;B	0.49528	0.614;0.346	T	0.17440	-1.0369	8	.	.	.	-13.6034	18.0846	0.89453	0.0:0.0:1.0:0.0	.	730;752	A6NJ97;Q86XN7	.;PRSR1_HUMAN	C	752;730	ENSP00000332034:S752C;ENSP00000339123:S730C	.	S	-	2	0	PROSER1	38485134	0.572000	0.26668	0.013000	0.15412	0.406000	0.30931	4.605000	0.61119	2.583000	0.87209	0.561000	0.74099	TCT	PROSER1	-	NULL		0.522	PROSER1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PROSER1	HGNC	protein_coding	OTTHUMT00000044607.5	G	NM_025138		39587134	-1	no_errors	ENST00000350125	ensembl	human	known	70_37	missense	SNP	0.376	C
PSCA	8000	genome.wustl.edu	37	8	143763116	143763116	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:143763116C>T	ENST00000513264.1	+	0	479				PSCA_ENST00000505305.1_3'UTR|PSCA_ENST00000301258.4_Intron			O43653	PSCA_HUMAN	prostate stem cell antigen							anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTCACTTACTCACTCACCCCA	0.607																																																	0																																										SO:0001624	3_prime_UTR_variant	8000			AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000513264.1:c.*232C>T	8.37:g.143763116C>T			Q6UW92	RNA	SNP	-	NULL	ENST00000513264.1	37	NULL		8																																																																																			PSCA	-	-		0.607	PSCA-002	PUTATIVE	basic	protein_coding	PSCA	HGNC	protein_coding	OTTHUMT00000367113.2	C	NM_005672		143763116	+1	no_errors	ENST00000505305	ensembl	human	known	70_37	rna	SNP	0.000	T
PSD	5662	genome.wustl.edu	37	10	104176405	104176405	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr10:104176405C>T	ENST00000020673.5	-	2	917	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.G131R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	131	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		GGAGAAACCCCACCCAGATCC	0.632																																																	0													24.0	27.0	26.0					10																	104176405		2203	4300	6503	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.391G>A	10.37:g.104176405C>T	ENSP00000020673:p.Gly131Arg		B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.G131R	ENST00000020673.5	37	c.391	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	C	15.60	2.881157	0.51801	.	.	ENSG00000059915	ENST00000020673;ENST00000406432	T;T	0.18960	2.18;2.18	5.08	4.14	0.48551	.	0.439260	0.20407	N	0.092933	T	0.11965	0.0291	N	0.08118	0	0.20489	N	0.999899	P	0.36065	0.535	B	0.37833	0.259	T	0.21042	-1.0257	10	0.26408	T	0.33	.	12.9493	0.58389	0.1612:0.8388:0.0:0.0	.	131	A5PKW4	PSD1_HUMAN	R	131	ENSP00000020673:G131R;ENSP00000384830:G131R	ENSP00000020673:G131R	G	-	1	0	PSD	104166395	0.022000	0.18835	0.814000	0.32528	0.960000	0.62799	1.168000	0.31859	2.375000	0.81037	0.561000	0.74099	GGG	PSD	-	NULL		0.632	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	C			104176405	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.401	T
PSPC1	55269	genome.wustl.edu	37	13	20325522	20325522	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:20325522C>G	ENST00000338910.4	-	4	1015	c.856G>C	c.(856-858)Gaa>Caa	p.E286Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	286	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TGCTGCTTTTCCATTTCATCA	0.423																																																	0													175.0	159.0	164.0					13																	20325522		1910	4129	6039	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.856G>C	13.37:g.20325522C>G	ENSP00000343966:p.Glu286Gln		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E286Q	ENST00000338910.4	37	c.856	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	C	28.6	4.938372	0.92526	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.17528	2.27	4.83	4.83	0.62350	.	0.112785	0.64402	D	0.000013	T	0.35335	0.0928	M	0.71036	2.16	0.80722	D	1	D	0.54601	0.967	P	0.53912	0.737	T	0.12400	-1.0549	10	0.49607	T	0.09	-17.284	18.2964	0.90147	0.0:1.0:0.0:0.0	.	286	Q8WXF1	PSPC1_HUMAN	Q	286;226	ENSP00000343966:E286Q	ENSP00000343966:E286Q	E	-	1	0	PSPC1	19223522	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.768000	0.85345	2.399000	0.81585	0.555000	0.69702	GAA	PSPC1	-	NULL		0.423	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	C			20325522	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	G
PSPC1	55269	genome.wustl.edu	37	13	20325600	20325600	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:20325600C>G	ENST00000338910.4	-	4	937	c.778G>C	c.(778-780)Gaa>Caa	p.E260Q		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	260	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		GGTGGTTGTTCTCTTTCCCTA	0.393																																																	0													58.0	52.0	54.0					13																	20325600		1847	4096	5943	SO:0001583	missense	55269			AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.778G>C	13.37:g.20325600C>G	ENSP00000343966:p.Glu260Gln		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E260Q	ENST00000338910.4	37	c.778	CCDS41870.1	13	.	.	.	.	.	.	.	.	.	.	C	19.11	3.764356	0.69878	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.16073	2.37	5.03	5.03	0.67393	NOPS (1);	0.000000	0.85682	D	0.000000	T	0.31167	0.0788	M	0.67397	2.05	0.80722	D	1	B	0.24721	0.11	B	0.39152	0.292	T	0.12863	-1.0531	10	0.52906	T	0.07	-17.27	18.737	0.91759	0.0:1.0:0.0:0.0	.	260	Q8WXF1	PSPC1_HUMAN	Q	260;200	ENSP00000343966:E260Q	ENSP00000343966:E260Q	E	-	1	0	PSPC1	19223600	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.886000	0.69743	2.506000	0.84524	0.555000	0.69702	GAA	PSPC1	-	pfam_NOPS		0.393	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPC1	HGNC	protein_coding	OTTHUMT00000044037.2	C			20325600	-1	no_errors	ENST00000338910	ensembl	human	known	70_37	missense	SNP	1.000	G
PTBP1	5725	genome.wustl.edu	37	19	807868	807868	+	Splice_Site	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:807868G>C	ENST00000349038.4	+	10	1114		c.e10-1		PTBP1_ENST00000356948.6_Splice_Site|PTBP1_ENST00000350092.4_Splice_Site|PTBP1_ENST00000394601.4_Splice_Site|MIR4745_ENST00000577608.1_RNA	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCTCTAAAGAGAGTCACAC	0.493																																																	0													198.0	177.0	184.0					19																	807868		2203	4300	6503	SO:0001630	splice_region_variant	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1042-1G>C	19.37:g.807868G>C			Q9BUQ0	Splice_Site	SNP	-	e11-1	ENST00000349038.4	37	c.1120-1	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.098837	0.76870	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	.	.	.	5.23	5.23	0.72850	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.7856	0.88536	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTBP1	758868	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.415000	0.97375	2.422000	0.82143	0.650000	0.86243	.	PTBP1	-	-		0.493	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	G		Intron	807868	+1	no_errors	ENST00000356948	ensembl	human	known	70_37	splice_site	SNP	1.000	C
PTPN22	26191	genome.wustl.edu	37	1	114380957	114380957	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:114380957G>T	ENST00000359785.5	-	13	1200	c.1065C>A	c.(1063-1065)gaC>gaA	p.D355E	PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000528414.1_Missense_Mutation_p.D300E|PTPN22_ENST00000538253.1_Missense_Mutation_p.D111E|PTPN22_ENST00000525799.1_Missense_Mutation_p.D228E|PTPN22_ENST00000420377.2_Missense_Mutation_p.D355E	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	355					negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTCCTAAAGTCAAAGGAAG	0.343																																																	0													138.0	110.0	120.0					1																	114380957		2202	4300	6502	SO:0001583	missense	26191			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.1065C>A	1.37:g.114380957G>T	ENSP00000352833:p.Asp355Glu		A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Non-rcpt_Tyr_Pase_8/22,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.D355E	ENST00000359785.5	37	c.1065	CCDS863.1	1	.	.	.	.	.	.	.	.	.	.	G	8.839	0.941684	0.18281	.	.	ENSG00000134242	ENST00000359785;ENST00000528414;ENST00000538253;ENST00000420377;ENST00000525799;ENST00000354605	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	5.82	1.27	0.21489	.	0.773311	0.12108	N	0.498818	T	0.07503	0.0189	L	0.42245	1.32	0.09310	N	1	B;B;B;B;B;B	0.28512	0.021;0.214;0.007;0.059;0.012;0.004	B;B;B;B;B;B	0.21917	0.013;0.031;0.004;0.037;0.006;0.007	T	0.29488	-1.0010	10	0.35671	T	0.21	.	2.3165	0.04199	0.2:0.151:0.4948:0.1542	.	111;228;355;300;355;355	F5H2S8;E9PPI1;E9PMT0;E9PLD8;G5E984;Q9Y2R2	.;.;.;.;.;PTN22_HUMAN	E	355;300;111;355;228;355	ENSP00000352833:D355E;ENSP00000435176:D300E;ENSP00000439372:D111E;ENSP00000388229:D355E;ENSP00000432674:D228E	ENSP00000346621:D355E	D	-	3	2	PTPN22	114182480	0.004000	0.15560	0.115000	0.21578	0.507000	0.33981	0.403000	0.20982	0.351000	0.24027	0.655000	0.94253	GAC	PTPN22	-	pirsf_Non-rcpt_Tyr_Pase_8/22		0.343	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN22	HGNC	protein_coding	OTTHUMT00000033015.1	G	NM_015967		114380957	-1	no_errors	ENST00000359785	ensembl	human	known	70_37	missense	SNP	0.001	T
PTPRC	5788	genome.wustl.edu	37	1	198663212	198663212	+	Intron	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:198663212G>A	ENST00000367376.2	+	3	265				PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000391970.3_Intron|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Intron|PTPRC_ENST00000413409.2_Missense_Mutation_p.D56N|PTPRC_ENST00000352140.3_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C						axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						tagggaagctgacagttcagc	0.507																																																	0																																										SO:0001627	intron_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.94+1710G>A	1.37:g.198663212G>A			A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pfam_PTP_recept_N	p.D56N	ENST00000367376.2	37	c.166		1	.	.	.	.	.	.	.	.	.	.	G	1.772	-0.484180	0.04383	.	.	ENSG00000081237	ENST00000271610;ENST00000413409	.	.	.	0.225	0.225	0.15325	.	.	.	.	.	T	0.36663	0.0975	.	.	.	0.09310	N	1	D	0.57571	0.98	P	0.57009	0.811	T	0.28744	-1.0034	6	0.14252	T	0.57	.	.	.	.	.	54	Q6Q1P2	.	N	54	.	ENSP00000271610:D54N	D	+	1	0	PTPRC	196929835	0.037000	0.19845	0.050000	0.19076	0.050000	0.14768	0.364000	0.20325	0.300000	0.22699	0.305000	0.20034	GAC	PTPRC	-	NULL		0.507	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		G			198663212	+1	no_errors	ENST00000413409	ensembl	human	putative	70_37	missense	SNP	0.056	A
PTPRT	11122	genome.wustl.edu	37	20	40733326	40733326	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:40733326C>T	ENST00000373187.1	-	25	3422	c.3423G>A	c.(3421-3423)ctG>ctA	p.L1141L	PTPRT_ENST00000373201.1_Silent_p.L1131L|PTPRT_ENST00000356100.2_Silent_p.L1150L|PTPRT_ENST00000373193.3_Silent_p.L1144L|PTPRT_ENST00000373198.4_Silent_p.L1160L|PTPRT_ENST00000373184.1_Silent_p.L1151L|PTPRT_ENST00000373190.1_Silent_p.L1140L			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	1141	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GGCACGCTTCCAGGATGGCAT	0.527																																																	0													89.0	91.0	90.0					20																	40733326		2045	4204	6249	SO:0001819	synonymous_variant	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.3423G>A	20.37:g.40733326C>T			A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.L1163	ENST00000373187.1	37	c.3489	CCDS42874.1	20																																																																																			PTPRT	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt		0.527	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	C			40733326	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	silent	SNP	1.000	T
RAB13	5872	genome.wustl.edu	37	1	153954967	153954967	+	Intron	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:153954967C>G	ENST00000368575.3	-	6	596				RAB13_ENST00000462680.1_5'UTR	NM_002870.2	NP_002861.1	P51153	RAB13_HUMAN	RAB13, member RAS oncogene family						cellular response to insulin stimulus (GO:0032869)|cortical actin cytoskeleton organization (GO:0030866)|endocytic recycling (GO:0032456)|endosomal transport (GO:0016197)|endothelial cell chemotaxis (GO:0035767)|establishment of protein localization to plasma membrane (GO:0090002)|establishment of Sertoli cell barrier (GO:0097368)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|neuron projection development (GO:0031175)|protein kinase A signaling (GO:0010737)|protein localization to cell leading edge (GO:1902463)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)|trans-Golgi network to recycling endosome transport (GO:0044795)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|insulin-responsive compartment (GO:0032593)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|tight junction (GO:0005923)|trans-Golgi network (GO:0005802)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(3)|kidney(1)|lung(5)|urinary_tract(1)	11	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AATCTACCTTCTAATACTTCC	0.498																																					Ovarian(138;395 2427 24306 43415)												0													113.0	121.0	118.0					1																	153954967		2203	4300	6503	SO:0001627	intron_variant	5872			X75593	CCDS1058.1, CCDS72921.1	1q21.2	2008-02-05			ENSG00000143545	ENSG00000143545		"""RAB, member RAS oncogene"""	9762	protein-coding gene	gene with protein product		602672				8294494	Standard	NM_002870		Approved		uc001fdt.2	P51153	OTTHUMG00000036589	ENST00000368575.3:c.480+43G>C	1.37:g.153954967C>G			A8K6B5|D3DV67|Q5U0A6|Q6GPG6|Q96GU4	RNA	SNP	-	NULL	ENST00000368575.3	37	NULL	CCDS1058.1	1																																																																																			RAB13	-	-		0.498	RAB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB13	HGNC	protein_coding	OTTHUMT00000088992.1	C	NM_002870		153954967	-1	no_errors	ENST00000462680	ensembl	human	known	70_37	rna	SNP	0.000	G
RAB31	11031	genome.wustl.edu	37	18	9792156	9792156	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr18:9792156C>T	ENST00000578921.1	+	3	366	c.125C>T	c.(124-126)tCt>tTt	p.S42F		NM_006868.3	NP_006859.2	Q13636	RAB31_HUMAN	RAB31, member RAS oncogene family	41					cellular response to insulin stimulus (GO:0032869)|Golgi to plasma membrane protein transport (GO:0043001)|GTP catabolic process (GO:0006184)|phagosome maturation (GO:0090382)|receptor internalization (GO:0031623)|regulated secretory pathway (GO:0045055)|small GTPase mediated signal transduction (GO:0007264)	early endosome (GO:0005769)|phagocytic vesicle (GO:0045335)|trans-Golgi network membrane (GO:0032588)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(2)|large_intestine(2)|lung(3)|skin(1)	10						TTCAGGGCATCTTTTATGACC	0.423																																																	0													81.0	75.0	77.0					18																	9792156		1936	4150	6086	SO:0001583	missense	11031			U59877	CCDS45826.1	18p11.22	2014-03-18			ENSG00000168461	ENSG00000168461		"""RAB, member RAS oncogene"""	9771	protein-coding gene	gene with protein product		605694				8863739	Standard	NM_006868		Approved	Rab22B	uc002kog.2	Q13636	OTTHUMG00000178513	ENST00000578921.1:c.125C>T	18.37:g.9792156C>T	ENSP00000461945:p.Ser42Phe		B2RBT7|Q15770|Q9HC00	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S42F	ENST00000578921.1	37	c.125	CCDS45826.1	18	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829927	0.91036	.	.	ENSG00000168461	ENST00000306096;ENST00000435762	.	.	.	6.06	6.06	0.98353	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.73745	0.3626	L	0.52011	1.625	0.80722	D	1	D	0.67145	0.996	D	0.66196	0.942	T	0.70193	-0.4939	8	.	.	.	-16.1587	17.5411	0.87848	0.0:1.0:0.0:0.0	.	41	Q13636	RAB31_HUMAN	F	42;33	.	.	S	+	2	0	RAB31	9782156	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.330000	0.79181	2.879000	0.98667	0.650000	0.86243	TCT	RAB31	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.423	RAB31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB31	HGNC	protein_coding	OTTHUMT00000442280.3	C			9792156	+1	no_errors	ENST00000306096	ensembl	human	known	70_37	missense	SNP	1.000	T
RASA3	22821	genome.wustl.edu	37	13	114758023	114758023	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:114758023C>T	ENST00000334062.7	-	22	2304	c.2183G>A	c.(2182-2184)cGt>cAt	p.R728H	RASA3_ENST00000389544.4_Missense_Mutation_p.R696H	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	728					calcium ion transmembrane transport (GO:0070588)|intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	calcium-release channel activity (GO:0015278)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|Ras GTPase activator activity (GO:0005099)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			CTCCGTCTCACGGTCCCCATC	0.507																																																	0													112.0	82.0	92.0					13																	114758023		2202	4299	6501	SO:0001583	missense	22821				CCDS32016.1	13q34	2013-01-10			ENSG00000185989	ENSG00000185989		"""Pleckstrin homology (PH) domain containing"""	20331	protein-coding gene	gene with protein product		605182				7637787, 9382842	Standard	NM_007368		Approved	GAP1IP4BP, GAPIII	uc001vui.3	Q14644	OTTHUMG00000017399	ENST00000334062.7:c.2183G>A	13.37:g.114758023C>T	ENSP00000335029:p.Arg728His		A6NL15|F8W6X8|Q8IUY2	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif	p.R728H	ENST00000334062.7	37	c.2183	CCDS32016.1	13	.	.	.	.	.	.	.	.	.	.	C	21.5	4.156456	0.78114	.	.	ENSG00000185989	ENST00000334062;ENST00000389544	D;D	0.87571	-2.17;-2.27	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.93197	0.7833	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.93032	0.6449	9	.	.	.	.	18.4236	0.90600	0.0:1.0:0.0:0.0	.	728	Q14644	RASA3_HUMAN	H	728;696	ENSP00000335029:R728H;ENSP00000374195:R696H	.	R	-	2	0	RASA3	113776125	1.000000	0.71417	0.949000	0.38748	0.324000	0.28378	6.879000	0.75572	2.353000	0.79882	0.655000	0.94253	CGT	RASA3	-	NULL		0.507	RASA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASA3	HGNC	protein_coding	OTTHUMT00000045957.2	C	NM_007368		114758023	-1	no_errors	ENST00000334062	ensembl	human	known	70_37	missense	SNP	1.000	T
RASIP1	54922	genome.wustl.edu	37	19	49230285	49230285	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:49230285C>T	ENST00000222145.4	-	7	2206	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	668	Dilute. {ECO:0000255|PROSITE- ProRule:PRU00503}.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GCCTCCTTCTCCATTTCCAGC	0.602																																																	0													90.0	91.0	90.0					19																	49230285		2203	4300	6503	SO:0001583	missense	54922			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.2002G>A	19.37:g.49230285C>T	ENSP00000222145:p.Glu668Lys		Q6U676	Missense_Mutation	SNP	pfam_Dil_domain,pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Dilute,pfscan_Ras-assoc	p.E668K	ENST00000222145.4	37	c.2002	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	24.3	4.520871	0.85495	.	.	ENSG00000105538	ENST00000222145	T	0.25912	1.77	5.55	4.52	0.55395	Dilute (1);	0.000000	0.85682	D	0.000000	T	0.41096	0.1144	L	0.53249	1.67	0.47153	D	0.999334	D	0.67145	0.996	P	0.61070	0.883	T	0.29243	-1.0018	10	0.62326	D	0.03	0.8084	12.2745	0.54726	0.0:0.9174:0.0:0.0826	.	668	Q5U651	RAIN_HUMAN	K	668	ENSP00000222145:E668K	ENSP00000222145:E668K	E	-	1	0	RASIP1	53922097	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	6.513000	0.73742	1.489000	0.48450	0.655000	0.94253	GAG	RASIP1	-	pfscan_Dilute		0.602	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	C	NM_017805		49230285	-1	no_errors	ENST00000222145	ensembl	human	known	70_37	missense	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103162496	103162496	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:103162496C>T	ENST00000428762.1	-	48	7800	c.7641G>A	c.(7639-7641)gcG>gcA	p.A2547A	RELN_ENST00000343529.5_Silent_p.A2547A|RELN_ENST00000424685.2_Silent_p.A2547A	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2547					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2547A(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCATTCCCGACGCCACGGCTC	0.483																																					NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - coding silent(1)	breast(1)											144.0	130.0	135.0					7																	103162496		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.7641G>A	7.37:g.103162496C>T			A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2547	ENST00000428762.1	37	c.7641	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.483	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	C	NM_005045		103162496	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	0.999	T
RELN	5649	genome.wustl.edu	37	7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	rs374232523		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:103191670G>A	ENST00000428762.1	-	41	6305	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_ENST00000343529.5_Missense_Mutation_p.A2049V|RELN_ENST00000424685.2_Missense_Mutation_p.A2049V	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2049					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)	p.A2049V(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15683	0.0		0.0	False		,,,				2504	0.0				NSCLC(146;835 1944 15585 22231 52158)												1	Substitution - Missense(1)	large_intestine(1)						G	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	70.0	56.0	61.0		6146,6146	5.7	1.0	7		61	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	RELN	NM_005045.3,NM_173054.2	64,64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	2049/3461,2049/3459	103191670	2,13004	2203	4300	6503	SO:0001583	missense	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6146C>T	7.37:g.103191670G>A	ENSP00000392423:p.Ala2049Val		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.A2049V	ENST00000428762.1	37	c.6146	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	G	27.0	4.791303	0.90367	2.27E-4	1.16E-4	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.23348	1.91;1.91;1.91	5.7	5.7	0.88788	Neuraminidase (1);	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	N	0.20401	0.57	0.80722	D	1	P;D	0.76494	0.946;0.999	B;P	0.61874	0.2;0.895	T	0.15065	-1.0450	10	0.54805	T	0.06	.	19.8383	0.96670	0.0:0.0:1.0:0.0	.	2049;2049	P78509-2;P78509	.;RELN_HUMAN	V	2049	ENSP00000392423:A2049V;ENSP00000345694:A2049V;ENSP00000388446:A2049V	ENSP00000345694:A2049V	A	-	2	0	RELN	102978906	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	9.081000	0.94049	2.683000	0.91414	0.650000	0.86243	GCG	RELN	-	pfam_BNR_rpt,superfamily_Neuraminidase		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103191670	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	missense	SNP	1.000	A
REXO1	57455	genome.wustl.edu	37	19	1816128	1816128	+	Silent	SNP	G	G	A	rs372526700		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:1816128G>A	ENST00000170168.4	-	16	3697	c.3603C>T	c.(3601-3603)gaC>gaT	p.D1201D	CTB-31O20.3_ENST00000586259.1_RNA|MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	1201	Exonuclease.					nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGCGCCGGCGTCCTCGCTGG	0.701																																																	0										1,4237		0,1,2118	52.0	31.0	38.0		3603	-2.0	1.0	19		38	0,8364		0,0,4182	no	coding-synonymous	REXO1	NM_020695.3		0,1,6300	AA,AG,GG		0.0,0.0236,0.0079		1201/1222	1816128	1,12601	2119	4182	6301	SO:0001819	synonymous_variant	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.3603C>T	19.37:g.1816128G>A			Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.D1201	ENST00000170168.4	37	c.3603	CCDS32866.1	19																																																																																			REXO1	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	G	NM_020695		1816128	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	silent	SNP	0.990	A
RGPD4	285190	genome.wustl.edu	37	2	108478127	108478127	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:108478127G>C	ENST00000408999.3	+	15	2213	c.2136G>C	c.(2134-2136)ctG>ctC	p.L712L	RGPD4_ENST00000354986.4_Silent_p.L712L	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	712					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAAATTATCTGAGAAAGACCA	0.353																																																	0													51.0	42.0	44.0					2																	108478127		692	1575	2267	SO:0001819	synonymous_variant	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.2136G>C	2.37:g.108478127G>C			B9A029	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L712	ENST00000408999.3	37	c.2136	CCDS46381.1	2																																																																																			RGPD4	-	NULL		0.353	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108478127	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	silent	SNP	1.000	C
RGS5	8490	genome.wustl.edu	37	1	163117208	163117208	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:163117208C>G	ENST00000313961.5	-	5	747	c.470G>C	c.(469-471)aGa>aCa	p.R157T	RGS5_ENST00000367903.3_Missense_Mutation_p.R177T|RGS5_ENST00000530507.1_Missense_Mutation_p.R161T|RGS5_ENST00000527988.1_Missense_Mutation_p.R49T	NM_001254749.1|NM_003617.3	NP_001241678.1|NP_003608.1	O15539	RGS5_HUMAN	regulator of G-protein signaling 5	157	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20			LUSC - Lung squamous cell carcinoma(543;0.187)			GGCATGGATTCTTTTCTGGGC	0.453																																																	0													152.0	138.0	143.0					1																	163117208		2203	4300	6503	SO:0001583	missense	8490			AF030108	CCDS1244.1, CCDS55652.1, CCDS58041.1	1q23.1	2008-02-05	2007-08-14		ENSG00000143248	ENSG00000143248		"""Regulators of G-protein signaling"""	10001	protein-coding gene	gene with protein product		603276	"""regulator of G-protein signalling 5"""			9747037	Standard	NM_003617		Approved		uc021pdt.1	O15539	OTTHUMG00000034441	ENST00000313961.5:c.470G>C	1.37:g.163117208C>G	ENSP00000319308:p.Arg157Thr		E9PMP5|Q53XA9|Q599J0	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.R157T	ENST00000313961.5	37	c.470	CCDS1244.1	1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.974541	0.74246	.	.	ENSG00000143248	ENST00000313961;ENST00000367903;ENST00000530507;ENST00000527988	T;T;T;T	0.01918	4.56;4.56;4.56;4.56	5.48	5.48	0.80851	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.045544	0.85682	D	0.000000	T	0.02083	0.0065	L	0.41710	1.295	0.44728	D	0.997726	B	0.31227	0.314	P	0.44732	0.459	T	0.40403	-0.9565	9	0.62326	D	0.03	.	10.3223	0.43773	0.0:0.9116:0.0:0.0884	.	157	O15539	RGS5_HUMAN	T	157;177;161;49	ENSP00000319308:R157T;ENSP00000356879:R177T;ENSP00000433001:R161T;ENSP00000432313:R49T	ENSP00000319308:R157T	R	-	2	0	RGS5	161383832	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.665000	0.46791	2.572000	0.86782	0.655000	0.94253	AGA	RGS5	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal		0.453	RGS5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGS5	HGNC	protein_coding	OTTHUMT00000083264.1	C	NM_003617		163117208	-1	no_errors	ENST00000313961	ensembl	human	known	70_37	missense	SNP	1.000	G
RNGTT	8732	genome.wustl.edu	37	6	89563357	89563357	+	Silent	SNP	G	G	A	rs372437134		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:89563357G>A	ENST00000369485.4	-	9	1209	c.1023C>T	c.(1021-1023)ctC>ctT	p.L341L	RNGTT_ENST00000538899.1_Silent_p.L281L|RNGTT_ENST00000369475.3_Silent_p.L341L|RNGTT_ENST00000265607.6_Silent_p.L341L	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	341	GTase.|Interaction with POLR2A. {ECO:0000250}.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|RNA processing (GO:0006396)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|mRNA guanylyltransferase activity (GO:0004484)|polynucleotide 5'-phosphatase activity (GO:0004651)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|RNA guanylyltransferase activity (GO:0008192)|triphosphatase activity (GO:0050355)			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CGCCATCCAAGAGAGTATTTG	0.274																																																	0													77.0	78.0	78.0					6																	89563357		2202	4296	6498	SO:0001819	synonymous_variant	8732			AF025654	CCDS5017.1	6q16	2011-06-09			ENSG00000111880	ENSG00000111880	2.7.7.50	"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	10073	protein-coding gene	gene with protein product		603512				9828141, 9512541	Standard	NM_001286428		Approved	HCE, HCE1, hCAP	uc003pmr.2	O60942	OTTHUMG00000015190	ENST00000369485.4:c.1023C>T	6.37:g.89563357G>A			E1P513|E1P514|O43483|O60257|O60351|Q5TCW8|Q8WUM8	Silent	SNP	pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase	p.L341	ENST00000369485.4	37	c.1023	CCDS5017.1	6																																																																																			RNGTT	-	pfam_mRNA_cap_enzyme,pirsf_mRNA_cap_enz_bifunc		0.274	RNGTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNGTT	HGNC	protein_coding	OTTHUMT00000041469.1	G			89563357	-1	no_errors	ENST00000369485	ensembl	human	known	70_37	silent	SNP	0.500	A
SBDS	51119	genome.wustl.edu	37	7	66460307	66460307	+	Missense_Mutation	SNP	T	T	A	rs373730800		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:66460307T>A	ENST00000246868.2	-	1	281	c.98A>T	c.(97-99)aAa>aTa	p.K33I	TYW1_ENST00000491969.1_3'UTR|TYW1_ENST00000359626.5_5'Flank	NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	33			K -> T (in SDS). {ECO:0000269|PubMed:24898207}.		bone marrow development (GO:0048539)|bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|inner cell mass cell proliferation (GO:0001833)|leukocyte chemotaxis (GO:0030595)|mature ribosome assembly (GO:0042256)|mitotic spindle stabilization (GO:0043148)|ribosomal large subunit biogenesis (GO:0042273)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|rRNA binding (GO:0019843)			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GACCTTGTTTTTGTAGCAGGC	0.652			Gene Conversion			"""AML, MDS"""			Shwachman-Diamond syndrome																														yes	Rec		Schwachman-Diamond syndrome	7	7q11	51119	Shwachman-Bodian-Diamond syndrome protein		L	0													58.0	55.0	56.0					7																	66460307		2203	4300	6503	SO:0001583	missense	51119	Familial Cancer Database	Shwachman syndrome, Shwachman-Bodian syndrome, Congenital Lipomatosis of the Pancreas	AF151855	CCDS5537.1	7q11.22	2014-09-17			ENSG00000126524	ENSG00000126524			19440	protein-coding gene	gene with protein product		607444				12496757	Standard	NM_016038		Approved	CGI-97, FLJ10917, SDS, SWDS	uc003tvm.1	Q9Y3A5	OTTHUMG00000023165	ENST00000246868.2:c.98A>T	7.37:g.66460307T>A	ENSP00000246868:p.Lys33Ile		A8K0P4|Q96FX0|Q9NV53	Missense_Mutation	SNP	pfam_Ribosome_mat_SBDS_C,pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS	p.K33I	ENST00000246868.2	37	c.98	CCDS5537.1	7	.	.	.	.	.	.	.	.	.	.	T	36	5.838598	0.97009	.	.	ENSG00000126524	ENST00000246868	D	0.96073	-3.9	5.19	5.19	0.71726	Ribosome maturation protein SBDS, N-terminal (2);	0.047367	0.85682	D	0.000000	D	0.98814	0.9600	H	0.97564	4.03	0.80722	D	1	B	0.32409	0.37	D	0.66847	0.947	D	0.98669	1.0687	10	0.66056	D	0.02	-25.1279	13.0328	0.58851	0.0:0.0:0.0:1.0	.	33	Q9Y3A5	SBDS_HUMAN	I	33	ENSP00000246868:K33I	ENSP00000246868:K33I	K	-	2	0	SBDS	66097742	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.862000	0.62976	2.183000	0.69458	0.459000	0.35465	AAA	SBDS	-	pfam_Ribosome_mat_SBDS_N,superfamily_Ribosome_mat_SBDS_N,tigrfam_Ribosome_maturation_pr_SBDS		0.652	SBDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBDS	HGNC	protein_coding	OTTHUMT00000251746.2	T	NM_016038		66460307	-1	no_errors	ENST00000246868	ensembl	human	known	70_37	missense	SNP	1.000	A
SBF2	81846	genome.wustl.edu	37	11	10024135	10024135	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:10024135G>A	ENST00000256190.8	-	7	858	c.721C>T	c.(721-723)Ctg>Ttg	p.L241L	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	241	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAAGATTCCAGGGCTCTACAA	0.338																																																	0													74.0	75.0	75.0					11																	10024135		2201	4294	6495	SO:0001819	synonymous_variant	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.721C>T	11.37:g.10024135G>A			Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Silent	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.L241	ENST00000256190.8	37	c.721	CCDS31427.1	11																																																																																			SBF2	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.338	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		10024135	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	silent	SNP	1.000	A
SBNO1	55206	genome.wustl.edu	37	12	123798237	123798237	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:123798237C>T	ENST00000602398.1	-	24	3277	c.3150G>A	c.(3148-3150)atG>atA	p.M1050I	SBNO1_ENST00000602750.1_Missense_Mutation_p.M1049I|SBNO1_ENST00000267176.4_Missense_Mutation_p.M1049I|SBNO1_ENST00000420886.2_Missense_Mutation_p.M1050I			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1050					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATGGATTTCATGACAATTT	0.333																																																	0													69.0	71.0	70.0					12																	123798237		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3150G>A	12.37:g.123798237C>T	ENSP00000473665:p.Met1050Ile		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.M1050I	ENST00000602398.1	37	c.3150	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480395	0.84747	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.31247	1.5;1.5	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.37999	0.1024	L	0.53617	1.68	0.54753	D	0.999981	P;P;B	0.42757	0.789;0.75;0.134	B;B;B	0.44224	0.444;0.316;0.11	T	0.04825	-1.0924	10	0.32370	T	0.25	-18.6342	19.4863	0.95030	0.0:1.0:0.0:0.0	.	1050;1049;161	A3KN83;A3KN83-2;B3KUC1	SBNO1_HUMAN;.;.	I	1050;1049	ENSP00000387361:M1050I;ENSP00000267176:M1049I	ENSP00000267176:M1049I	M	-	3	0	SBNO1	122364190	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.545000	0.82128	2.618000	0.88619	0.591000	0.81541	ATG	SBNO1	-	NULL		0.333	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123798237	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T
SBNO1	55206	genome.wustl.edu	37	12	123801789	123801789	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:123801789C>T	ENST00000602398.1	-	21	3041	c.2914G>A	c.(2914-2916)Gat>Aat	p.D972N	SBNO1_ENST00000602750.1_Missense_Mutation_p.D971N|SBNO1_ENST00000267176.4_Missense_Mutation_p.D971N|SBNO1_ENST00000420886.2_Missense_Mutation_p.D972N			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	972					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATTGCTCTATCAGCGCTCCAA	0.413																																																	0													152.0	140.0	144.0					12																	123801789		2203	4300	6503	SO:0001583	missense	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2914G>A	12.37:g.123801789C>T	ENSP00000473665:p.Asp972Asn		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Missense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.D972N	ENST00000602398.1	37	c.2914	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984908	0.93044	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	T;T	0.75704	-0.96;-0.96	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.89563	0.6751	M	0.90759	3.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.90739	0.4648	10	0.87932	D	0	-33.265	20.139	0.98050	0.0:1.0:0.0:0.0	.	972;971	A3KN83;A3KN83-2	SBNO1_HUMAN;.	N	972;971	ENSP00000387361:D972N;ENSP00000267176:D971N	ENSP00000267176:D971N	D	-	1	0	SBNO1	122367742	1.000000	0.71417	0.996000	0.52242	0.524000	0.34500	7.760000	0.85248	2.764000	0.94973	0.655000	0.94253	GAT	SBNO1	-	NULL		0.413	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	C	NM_018183		123801789	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	missense	SNP	1.000	T
SBNO1	55206	genome.wustl.edu	37	12	123805113	123805113	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:123805113G>A	ENST00000602398.1	-	19	2660	c.2533C>T	c.(2533-2535)Cag>Tag	p.Q845*	SBNO1_ENST00000602750.1_Nonsense_Mutation_p.Q844*|SBNO1_ENST00000267176.4_Nonsense_Mutation_p.Q844*|SBNO1_ENST00000420886.2_Nonsense_Mutation_p.Q845*			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	845					regulation of transcription, DNA-templated (GO:0006355)					NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACAGCATCCTGACTTGTTATA	0.363																																																	0													143.0	141.0	142.0					12																	123805113		2203	4300	6503	SO:0001587	stop_gained	55206			AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.2533C>T	12.37:g.123805113G>A	ENSP00000473665:p.Gln845*		Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Nonsense_Mutation	SNP	pfam_Helicase/UvrB_dom,superfamily_Prismane-like	p.Q845*	ENST00000602398.1	37	c.2533	CCDS53844.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.160220	0.98683	.	.	ENSG00000139697	ENST00000420886;ENST00000267176	.	.	.	5.72	5.72	0.89469	.	0.063724	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.26408	T	0.33	-11.7753	19.8879	0.96917	0.0:0.0:1.0:0.0	.	.	.	.	X	845;844	.	ENSP00000267176:Q844X	Q	-	1	0	SBNO1	122371066	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.373000	0.97168	2.693000	0.91896	0.655000	0.94253	CAG	SBNO1	-	NULL		0.363	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO1	HGNC	protein_coding	OTTHUMT00000467684.1	G	NM_018183		123805113	-1	no_errors	ENST00000420886	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SELK	58515	genome.wustl.edu	37	3	53925851	53925851	+	5'UTR	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:53925851C>A	ENST00000495461.1	-	0	164				SELK_ENST00000485414.1_5'UTR|SELK_ENST00000541726.1_5'UTR			Q9Y6D0	SELK_HUMAN							calcium ion transport (GO:0006816)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|macrophage derived foam cell differentiation (GO:0010742)|positive regulation of T cell migration (GO:2000406)|positive regulation of T cell proliferation (GO:0042102)|protein palmitoylation (GO:0018345)|regulation of protein transport (GO:0051223)|respiratory burst after phagocytosis (GO:0045728)|response to oxidative stress (GO:0006979)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)									BRCA - Breast invasive adenocarcinoma(193;0.000146)|KIRC - Kidney renal clear cell carcinoma(284;0.00549)|Kidney(284;0.00619)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		CCACCGGGCGCCTGGCCCCTG	0.597																																																	0													52.0	57.0	55.0					3																	53925851		1912	4121	6033	SO:0001623	5_prime_UTR_variant	58515																														ENST00000495461.1:c.-36G>T	3.37:g.53925851C>A			Q8IZQ3|Q9P085	RNA	SNP	-	NULL	ENST00000495461.1	37	NULL	CCDS54597.1	3																																																																																			SELK	-	-		0.597	SELK-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELK	Uniprot_genename	protein_coding	OTTHUMT00000351659.1	C			53925851	-1	no_errors	ENST00000485414	ensembl	human	known	70_37	rna	SNP	0.000	A
SERPINA7	6906	genome.wustl.edu	37	X	105281067	105281067	+	Splice_Site	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:105281067C>G	ENST00000372563.1	-	2	41		c.e2-1		SERPINA7_ENST00000487487.1_5'Flank|SERPINA7_ENST00000327674.4_5'UTR	NM_000354.5	NP_000345.2	P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7						aging (GO:0007568)|negative regulation of endopeptidase activity (GO:0010951)|post-embryonic development (GO:0009791)|regulation of proteolysis (GO:0030162)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to peptide hormone (GO:0043434)|response to prostaglandin E (GO:0034695)|response to vitamin A (GO:0033189)|thyroid hormone transport (GO:0070327)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	hormone binding (GO:0042562)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GGAAGTTAATCTATAAGAGAT	0.423																																																	0													47.0	42.0	44.0					X																	105281067		2203	4299	6502	SO:0001630	splice_region_variant	6906			M14091	CCDS14518.1	Xq21-q22	2014-02-18	2005-08-18		ENSG00000123561	ENSG00000123561		"""Serine (or cysteine) peptidase inhibitors"""	11583	protein-coding gene	gene with protein product	"""thyroxin-binding globulin"", ""thyroxine-binding globulin"", ""alpha-1 antiproteinase, antitrypsin"""	314200	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7"""	TBG		24172014	Standard	NM_000354		Approved		uc004eme.2	P05543	OTTHUMG00000022144	ENST00000372563.1:c.17-1G>C	X.37:g.105281067C>G			D3DUX1	Splice_Site	SNP	-	e1-1	ENST00000372563.1	37	c.1-1	CCDS14518.1	X																																																																																			SERPINA7	-	-		0.423	SERPINA7-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINA7	HGNC	protein_coding	OTTHUMT00000057791.1	C	NM_000354	Intron	105281067	-1	no_errors	ENST00000372563	ensembl	human	known	70_37	splice_site	SNP	0.521	G
SFPQ	6421	genome.wustl.edu	37	1	35654964	35654964	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:35654964G>A	ENST00000357214.5	-	5	1533	c.1435C>T	c.(1435-1437)Cgt>Tgt	p.R479C		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	479					alternative mRNA splicing, via spliceosome (GO:0000380)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|histone H3 deacetylation (GO:0070932)|mRNA processing (GO:0006397)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902177)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|histone deacetylase binding (GO:0042826)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TGGGCAAAACGAGGAGGGGTT	0.393			T	TFE3	papillary renal cell																																			Dom	yes		1	1p34.3	6421	splicing factor proline/glutamine rich(polypyrimidine tract binding protein associated)		E	0													59.0	55.0	56.0					1																	35654964		2203	4300	6503	SO:0001583	missense	6421			X70944	CCDS388.1	1p34.3	2014-06-13	2010-05-04		ENSG00000116560	ENSG00000116560		"""RNA binding motif (RRM) containing"""	10774	protein-coding gene	gene with protein product	"""polypyrimidine tract binding protein associated"", ""protein phosphatase 1, regulatory subunit 140"""	605199	"""splicing factor proline/glutamine rich (polypyrimidine tract-binding protein-associated)"""			8449401	Standard	NM_005066		Approved	PSF, PPP1R140	uc001bys.3	P23246	OTTHUMG00000004157	ENST00000357214.5:c.1435C>T	1.37:g.35654964G>A	ENSP00000349748:p.Arg479Cys		P30808|Q5SZ71	Missense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.R479C	ENST00000357214.5	37	c.1435	CCDS388.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740159	0.89573	.	.	ENSG00000116560	ENST00000357214	T	0.43688	0.94	5.84	5.84	0.93424	NOPS (1);	0.000000	0.85682	D	0.000000	T	0.70011	0.3175	M	0.88450	2.955	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.75184	-0.3407	10	0.87932	D	0	-8.2101	14.9171	0.70807	0.0:0.0:0.8569:0.1431	.	479	P23246	SFPQ_HUMAN	C	479	ENSP00000349748:R479C	ENSP00000349748:R479C	R	-	1	0	SFPQ	35427551	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.785000	0.85724	2.765000	0.95021	0.655000	0.94253	CGT	SFPQ	-	pfam_NOPS		0.393	SFPQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFPQ	HGNC	protein_coding	OTTHUMT00000011984.4	G	NM_005066		35654964	-1	no_errors	ENST00000357214	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC22A20	440044	genome.wustl.edu	37	11	65009468	65009468	+	RNA	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:65009468G>C	ENST00000525437.1	+	0	2436							A6NK97	S22AK_HUMAN	solute carrier family 22, member 20						ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CAGGGTCAAAGAAGGCTCTTC	0.507																																																	0													59.0	63.0	62.0					11																	65009468		1942	4140	6082			440044			DQ053017		11q13.1	2014-02-20			ENSG00000197847	ENSG00000197847		"""Solute carriers"""	29867	other	unknown		611696				15369770, 16478971	Standard	NM_001004326		Approved	Oat6, FLJ16331	uc021qlh.1	A6NK97	OTTHUMG00000165615		11.37:g.65009468G>C			B9EJB2|Q6ZN88	RNA	SNP	-	NULL	ENST00000525437.1	37	NULL		11																																																																																			SLC22A20	-	-		0.507	SLC22A20-003	KNOWN	basic	processed_transcript	SLC22A20	HGNC	pseudogene	OTTHUMT00000385336.1	G	NM_001004326		65009468	+1	no_errors	ENST00000525437	ensembl	human	known	70_37	rna	SNP	0.002	C
SLC9A1	6548	genome.wustl.edu	37	1	27425851	27425851	+	3'UTR	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:27425851C>T	ENST00000263980.3	-	0	3970				SLC9A1_ENST00000490329.1_5'UTR	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1						carbohydrate metabolic process (GO:0005975)|cardiac muscle cell differentiation (GO:0055007)|cell growth (GO:0016049)|cellular response to acidic pH (GO:0071468)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|hydrogen ion transmembrane transport (GO:1902600)|ion transport (GO:0006811)|negative regulation of apoptotic process (GO:0043066)|neuron death (GO:0070997)|positive regulation of action potential (GO:0045760)|positive regulation of cell growth (GO:0030307)|positive regulation of mitochondrial membrane permeability (GO:0035794)|protein oligomerization (GO:0051259)|regulation of intracellular pH (GO:0051453)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|regulation of the force of heart contraction (GO:0002026)|response to acidic pH (GO:0010447)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|sodium ion export (GO:0071436)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium-dependent protein binding (GO:0048306)|sodium:proton antiporter activity (GO:0015385)|solute:proton antiporter activity (GO:0015299)			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGAGTTACTTCTGATGTCACA	0.567																																																	0																																										SO:0001624	3_prime_UTR_variant	6548			M81768	CCDS295.1	1p36.1-p35	2014-06-13	2012-03-22		ENSG00000090020	ENSG00000090020		"""Solute carriers"""	11071	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 143"""	107310	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 1 (antiporter, Na+/H+, amiloride sensitive)"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 1"""	APNH, NHE1		8283968	Standard	NM_003047		Approved	PPP1R143	uc001bnm.4	P19634	OTTHUMG00000004271	ENST00000263980.3:c.*947G>A	1.37:g.27425851C>T			B1ALD6|D3DPL4|Q96EM2	RNA	SNP	-	NULL	ENST00000263980.3	37	NULL	CCDS295.1	1																																																																																			SLC9A1	-	-		0.567	SLC9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A1	HGNC	protein_coding	OTTHUMT00000012336.2	C	NM_003047		27425851	-1	no_errors	ENST00000490329	ensembl	human	known	70_37	rna	SNP	0.012	T
SLCO4A1	28231	genome.wustl.edu	37	20	61290075	61290075	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:61290075G>C	ENST00000370507.1	+	2	939	c.843G>C	c.(841-843)ctG>ctC	p.L281L	SLCO4A1_ENST00000217159.1_Silent_p.L281L			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	281					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	CCGGCTACCTGATTGGAGGTG	0.662																																					Pancreas(168;741 2006 10379 40139 45334)												0													28.0	26.0	27.0					20																	61290075		2202	4300	6502	SO:0001819	synonymous_variant	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.843G>C	20.37:g.61290075G>C			Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Silent	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.L281	ENST00000370507.1	37	c.843	CCDS13501.1	20																																																																																			SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.662	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	G	NM_016354		61290075	+1	no_errors	ENST00000217159	ensembl	human	known	70_37	silent	SNP	0.999	C
SLFN11	91607	genome.wustl.edu	37	17	33690730	33690730	+	Missense_Mutation	SNP	T	T	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:33690730T>C	ENST00000394566.1	-	4	369	c.97A>G	c.(97-99)Aag>Gag	p.K33E	SLFN11_ENST00000308377.4_Missense_Mutation_p.K33E	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	33					defense response to virus (GO:0051607)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|tRNA binding (GO:0000049)			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTCTGCAGCTTTTTTCTGTTT	0.463																																																	0													88.0	94.0	92.0					17																	33690730		2203	4300	6503	SO:0001583	missense	91607			AK074184	CCDS11294.1	17q12	2006-04-05			ENSG00000172716	ENSG00000172716			26633	protein-coding gene	gene with protein product		614953				12477932	Standard	NM_001104587		Approved	FLJ34922	uc010ctr.3	Q7Z7L1	OTTHUMG00000132948	ENST00000394566.1:c.97A>G	17.37:g.33690730T>C	ENSP00000378067:p.Lys33Glu		E1P643|Q8N3S8|Q8N762|Q8TEE0	Missense_Mutation	SNP	pfam_ATPase_AAA-4,pfam_DUF2075	p.K33E	ENST00000394566.1	37	c.97	CCDS11294.1	17	.	.	.	.	.	.	.	.	.	.	T	5.836	0.338481	0.11069	.	.	ENSG00000172716	ENST00000308377;ENST00000394566;ENST00000430814;ENST00000441608;ENST00000427966	T;T;T;T;T	0.24350	4.47;4.47;1.86;2.21;1.86	4.0	0.243	0.15503	.	0.428531	0.16998	N	0.191022	T	0.18341	0.0440	L	0.47078	1.49	0.09310	N	1	B	0.25563	0.129	B	0.32533	0.147	T	0.27640	-1.0068	10	0.17369	T	0.5	.	3.6043	0.08037	0.0:0.2218:0.1949:0.5833	.	33	Q7Z7L1	SLN11_HUMAN	E	33	ENSP00000312402:K33E;ENSP00000378067:K33E;ENSP00000397454:K33E;ENSP00000393615:K33E;ENSP00000395140:K33E	ENSP00000312402:K33E	K	-	1	0	SLFN11	30714843	0.017000	0.18338	0.000000	0.03702	0.000000	0.00434	0.636000	0.24644	0.155000	0.19261	-0.256000	0.11100	AAG	SLFN11	-	NULL		0.463	SLFN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN11	HGNC	protein_coding	OTTHUMT00000256480.1	T	NM_152270		33690730	-1	no_errors	ENST00000308377	ensembl	human	known	70_37	missense	SNP	0.000	C
SMEK1	55671	genome.wustl.edu	37	14	91948480	91948480	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:91948480C>G	ENST00000554943.1	-	4	470	c.355G>C	c.(355-357)Gag>Cag	p.E119Q	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.E119Q|SMEK1_ENST00000554684.1_Missense_Mutation_p.E119Q|SMEK1_ENST00000428424.2_Intron			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	119					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAACGCTCCTCTTCAGATTCA	0.408																																																	0													76.0	72.0	74.0					14																	91948480		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.355G>C	14.37:g.91948480C>G	ENSP00000450883:p.Glu119Gln		Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E119Q	ENST00000554943.1	37	c.355		14	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006924	0.93287	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000554943;ENST00000554390;ENST00000557018	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	6.07	6.07	0.98685	.	0.045353	0.85682	D	0.000000	T	0.47764	0.1463	M	0.70787	2.145	0.80722	D	1	B;B	0.34226	0.443;0.219	B;B	0.33960	0.173;0.122	T	0.36432	-0.9748	10	0.30078	T	0.28	-17.1259	20.6593	0.99626	0.0:1.0:0.0:0.0	.	119;119	Q6IN85;Q6IN85-2	P4R3A_HUMAN;.	Q	119	ENSP00000450864:E119Q;ENSP00000337125:E119Q;ENSP00000450883:E119Q;ENSP00000452596:E119Q;ENSP00000450432:E119Q	ENSP00000337125:E119Q	E	-	1	0	SMEK1	91018233	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAG	SMEK1	-	NULL		0.408	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91948480	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G
SNX19	399979	genome.wustl.edu	37	11	130749566	130749566	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:130749566C>T	ENST00000265909.4	-	10	3368	c.2799G>A	c.(2797-2799)ctG>ctA	p.L933L	SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000545537.1_Silent_p.L173L|SNX19_ENST00000528555.1_Silent_p.L313L|SNX19_ENST00000534726.1_Silent_p.L173L|SNX19_ENST00000530356.1_Silent_p.L313L|SNX19_ENST00000426933.2_Silent_p.L101L|SNX19_ENST00000539184.1_Silent_p.L376L	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	933					protein transport (GO:0015031)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GACCCCAGCTCAGCCGGCATT	0.443																																																	0													111.0	103.0	106.0					11																	130749566		2201	4297	6498	SO:0001819	synonymous_variant	399979			D87443	CCDS31721.1, CCDS73416.1	11q25	2010-04-20			ENSG00000120451	ENSG00000120451		"""Sorting nexins"""	21532	protein-coding gene	gene with protein product							Standard	NM_014758		Approved	KIAA0254, CHET8	uc001qgk.4	Q92543	OTTHUMG00000165663	ENST00000265909.4:c.2799G>A	11.37:g.130749566C>T			E9PKB9|Q8IV55	Silent	SNP	pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,superfamily_Phox,smart_PX_assoc_Snx13,smart_Phox,pfscan_Phox,pfscan_Phox_assoc	p.L933	ENST00000265909.4	37	c.2799	CCDS31721.1	11																																																																																			SNX19	-	pfam_Sorting_nexin_C		0.443	SNX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX19	HGNC	protein_coding	OTTHUMT00000385649.1	C	NM_014758		130749566	-1	no_errors	ENST00000265909	ensembl	human	known	70_37	silent	SNP	0.724	T
SPANXC	64663	genome.wustl.edu	37	X	140335818	140335818	+	Missense_Mutation	SNP	C	C	T	rs59800971	byFrequency	TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:140335818C>T	ENST00000358993.2	-	2	164	c.126G>A	c.(124-126)atG>atA	p.M42I		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	42						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.M42I(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CAGATGTTTTCATTTTTTTAG	0.498																																																	1	Substitution - Missense(1)	large_intestine(1)											12.0	11.0	11.0					X																	140335818		1247	2748	3995	SO:0001583	missense	64663			AJ238277	CCDS14673.1	Xq27.2	2009-03-25			ENSG00000198573	ENSG00000198573			14331	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 3"""	300330				10626816	Standard	NM_022661		Approved	CTp11, CT11.3	uc004fbk.3	Q9NY87	OTTHUMG00000022556	ENST00000358993.2:c.126G>A	X.37:g.140335818C>T	ENSP00000351884:p.Met42Ile		Q32WL9|Q5JX88	Missense_Mutation	SNP	pfam_SPANX_prot	p.M42I	ENST00000358993.2	37	c.126	CCDS14673.1	X	.	.	.	.	.	.	.	.	.	.	c	0.353	-0.943983	0.02322	.	.	ENSG00000198573	ENST00000358993	T	0.06449	3.3	.	.	.	.	.	.	.	.	T	0.04318	0.0119	L	0.29908	0.895	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.41161	-0.9524	7	0.39692	T	0.17	.	.	.	.	rs59800971	42	Q9NY87	SPNXC_HUMAN	I	42	ENSP00000351884:M42I	ENSP00000351884:M42I	M	-	3	0	SPANXC	140163484	0.014000	0.17966	0.002000	0.10522	0.003000	0.03518	0.064000	0.14437	-0.548000	0.06199	0.330000	0.21533	ATG	SPANXC	-	pfam_SPANX_prot		0.498	SPANXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPANXC	HGNC	protein_coding	OTTHUMT00000058590.1	C	NM_022661		140335818	-1	no_errors	ENST00000358993	ensembl	human	known	70_37	missense	SNP	0.002	T
SPATA31D1	389763	genome.wustl.edu	37	9	84606835	84606835	+	Nonsense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr9:84606835C>T	ENST00000344803.2	+	4	1497	c.1450C>T	c.(1450-1452)Cag>Tag	p.Q484*		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	484					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCACATCCATCAGCAGCCTCC	0.458																																																	0													78.0	71.0	74.0					9																	84606835		1998	4192	6190	SO:0001587	stop_gained	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1450C>T	9.37:g.84606835C>T	ENSP00000341988:p.Gln484*			Nonsense_Mutation	SNP	NULL	p.Q484*	ENST00000344803.2	37	c.1450	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	18.45	3.627623	0.66901	.	.	ENSG00000214929	ENST00000344803	.	.	.	2.91	-0.303	0.12792	.	0.491667	0.16800	N	0.199036	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-5.1297	5.6636	0.17682	0.2115:0.3736:0.4149:0.0	.	.	.	.	X	484	.	ENSP00000341988:Q484X	Q	+	1	0	FAM75D1	83796655	0.003000	0.15002	0.000000	0.03702	0.014000	0.08584	0.026000	0.13599	-0.058000	0.13177	0.655000	0.94253	CAG	SPATA31D1	-	NULL		0.458	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	C	NM_001001670		84606835	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	nonsense	SNP	0.000	T
SPATC1	375686	genome.wustl.edu	37	8	145095183	145095183	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:145095183G>A	ENST00000377470.3	+	2	687	c.585G>A	c.(583-585)ctG>ctA	p.L195L	SPATC1_ENST00000447830.2_Silent_p.L195L	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	195						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTCTCTCTGAGCAGCCCCC	0.672																																																	0													29.0	32.0	31.0					8																	145095183		2203	4298	6501	SO:0001819	synonymous_variant	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.585G>A	8.37:g.145095183G>A			B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	NULL	p.L195	ENST00000377470.3	37	c.585	CCDS6413.2	8																																																																																			SPATC1	-	NULL		0.672	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	G	NM_198572		145095183	+1	no_errors	ENST00000377470	ensembl	human	known	70_37	silent	SNP	0.062	A
SPTBN1	6711	genome.wustl.edu	37	2	54856551	54856551	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:54856551G>T	ENST00000356805.4	+	14	2561	c.2280G>T	c.(2278-2280)atG>atT	p.M760I	SPTBN1_ENST00000333896.5_Missense_Mutation_p.M747I	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	760					actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATGCCTGGATGCTGGACATCC	0.567																																																	0													65.0	66.0	65.0					2																	54856551		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.2280G>T	2.37:g.54856551G>T	ENSP00000349259:p.Met760Ile		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.M760I	ENST00000356805.4	37	c.2280	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909317	0.52439	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.37411	1.63;1.2	5.37	5.37	0.77165	.	0.080041	0.85682	D	0.000000	T	0.32071	0.0817	L	0.28608	0.87	0.51012	D	0.999906	B;B	0.13594	0.004;0.008	B;B	0.14023	0.009;0.01	T	0.04840	-1.0923	10	0.46703	T	0.11	.	19.4802	0.95007	0.0:0.0:1.0:0.0	.	747;760	Q01082-3;Q01082	.;SPTB2_HUMAN	I	760;747	ENSP00000349259:M760I;ENSP00000334156:M747I	ENSP00000334156:M747I	M	+	3	0	SPTBN1	54710055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.893000	0.87330	2.692000	0.91855	0.655000	0.94253	ATG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.567	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54856551	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTBN4	57731	genome.wustl.edu	37	19	41025495	41025495	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:41025495C>G	ENST00000352632.3	+	16	3177	c.3091C>G	c.(3091-3093)Ctg>Gtg	p.L1031V	SPTBN4_ENST00000344104.3_Missense_Mutation_p.L1031V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L1031V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.L1031V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L1031V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1031					actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGAGGCCGCTCTGCAGGCGCT	0.766																																																	0													3.0	4.0	3.0					19																	41025495		1753	3583	5336	SO:0001583	missense	57731			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.3091C>G	19.37:g.41025495C>G	ENSP00000263373:p.Leu1031Val		E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L1031V	ENST00000352632.3	37	c.3091	CCDS12559.1	19	.	.	.	.	.	.	.	.	.	.	C	15.85	2.954494	0.53293	.	.	ENSG00000160460	ENST00000428507;ENST00000352632;ENST00000338932;ENST00000344104	T;T;T	0.81415	-1.32;-1.28;-1.49	4.37	1.07	0.20283	.	0.135912	0.31246	N	0.007983	D	0.83677	0.5306	L	0.52905	1.665	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.978;0.998	T	0.79591	-0.1740	10	0.46703	T	0.11	.	7.2435	0.26109	0.0:0.6326:0.0:0.3674	.	1031;1031	Q9H254;Q71S06	SPTN4_HUMAN;.	V	1031	ENSP00000263373:L1031V;ENSP00000340345:L1031V;ENSP00000340741:L1031V	ENSP00000340345:L1031V	L	+	1	2	SPTBN4	45717335	0.069000	0.21087	0.834000	0.33040	0.968000	0.65278	0.529000	0.23019	0.142000	0.18901	0.462000	0.41574	CTG	SPTBN4	-	pirsf_Spectrin_bsu,smart_Spectrin/alpha-actinin		0.766	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	C			41025495	+1	no_errors	ENST00000352632	ensembl	human	known	70_37	missense	SNP	0.674	G
SRBD1	55133	genome.wustl.edu	37	2	45800396	45800396	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:45800396G>A	ENST00000263736.4	-	9	1317	c.1255C>T	c.(1255-1257)Ctg>Ttg	p.L419L		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	419					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TGGTAGAGCAGAAACTTATCA	0.358																																																	0													126.0	124.0	125.0					2																	45800396		2203	4300	6503	SO:0001819	synonymous_variant	55133			AK056536	CCDS1823.1	2p21	2008-02-05			ENSG00000068784	ENSG00000068784			25521	protein-coding gene	gene with protein product						12477932	Standard	NM_018079		Approved	FLJ10379	uc002rus.3	Q8N5C6	OTTHUMG00000128814	ENST00000263736.4:c.1255C>T	2.37:g.45800396G>A			Q53T56|Q96TA4|Q9NW11	Silent	SNP	pfam_Tex-like_N,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_RuvA_2-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L419	ENST00000263736.4	37	c.1255	CCDS1823.1	2																																																																																			SRBD1	-	NULL		0.358	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	G	NM_018079		45800396	-1	no_errors	ENST00000263736	ensembl	human	known	70_37	silent	SNP	0.991	A
SRC	6714	genome.wustl.edu	37	20	36031920	36031920	+	3'UTR	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:36031920C>G	ENST00000373578.2	+	0	2098				SRC_ENST00000373558.2_3'UTR|SRC_ENST00000360723.4_3'UTR|SRC_ENST00000358208.4_3'UTR|SRC_ENST00000445403.1_3'UTR|SRC_ENST00000373567.2_3'UTR|SRC_ENST00000477066.1_3'UTR	NM_198291.1	NP_938033.1	P12931	SRC_HUMAN	SRC proto-oncogene, non-receptor tyrosine kinase						axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cellular response to progesterone stimulus (GO:0071393)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain development (GO:0030900)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|leukocyte migration (GO:0050900)|membrane organization (GO:0061024)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of mitochondrial depolarization (GO:0051902)|negative regulation of protein homooligomerization (GO:0032463)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oogenesis (GO:0048477)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet activation (GO:0030168)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of integrin activation (GO:0033625)|positive regulation of podosome assembly (GO:0071803)|positive regulation of protein kinase B signaling (GO:0051897)|progesterone receptor signaling pathway (GO:0050847)|protein autophosphorylation (GO:0046777)|Ras protein signal transduction (GO:0007265)|regulation of bone resorption (GO:0045124)|regulation of caveolin-mediated endocytosis (GO:2001286)|regulation of cell-cell adhesion (GO:0022407)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of epithelial cell migration (GO:0010632)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of protein binding (GO:0043393)|regulation of vascular permeability (GO:0043114)|response to interleukin-1 (GO:0070555)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|T cell costimulation (GO:0031295)|transforming growth factor beta receptor signaling pathway (GO:0007179)|uterus development (GO:0060065)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosome (GO:0005764)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ephrin receptor binding (GO:0046875)|growth factor receptor binding (GO:0070851)|heme binding (GO:0020037)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Bosutinib(DB06616)|Dasatinib(DB01254)|Ponatinib(DB08901)	GGCCCTTCCTCTTTGGTGGCA	0.667																																																	0																																										SO:0001624	3_prime_UTR_variant	6714			AF077754	CCDS13294.1	20q12-q13	2014-06-25	2014-06-25		ENSG00000197122	ENSG00000197122		"""SH2 domain containing"""	11283	protein-coding gene	gene with protein product		190090	"""v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog"""	SRC1		2582238	Standard	NM_005417		Approved	ASV, c-src	uc002xgy.3	P12931	OTTHUMG00000032417	ENST00000373578.2:c.*138C>G	20.37:g.36031920C>G			E1P5V4|Q76P87|Q86VB9|Q9H5A8	RNA	SNP	-	NULL	ENST00000373578.2	37	NULL	CCDS13294.1	20																																																																																			SRC	-	-		0.667	SRC-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SRC	HGNC	protein_coding	OTTHUMT00000268142.1	C	NM_005417		36031920	+1	no_errors	ENST00000477066	ensembl	human	known	70_37	rna	SNP	0.000	G
ST7	7982	genome.wustl.edu	37	7	116830921	116830921	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:116830921G>A	ENST00000393446.2	+	11	1419	c.1116G>A	c.(1114-1116)ctG>ctA	p.L372L	ST7_ENST00000393447.4_Silent_p.L352L|ST7_ENST00000432298.1_Silent_p.L349L|ST7_ENST00000422922.1_Silent_p.L326L|ST7_ENST00000393443.1_Silent_p.L322L|ST7_ENST00000393449.1_Silent_p.L395L|ST7_ENST00000265437.5_Silent_p.L395L|ST7_ENST00000323984.3_Silent_p.L395L|ST7_ENST00000487459.1_3'UTR|ST7_ENST00000393444.3_Silent_p.L329L|ST7_ENST00000393451.3_Silent_p.L372L			Q9Y561	LRP12_HUMAN	suppression of tumorigenicity 7	0	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				endocytosis (GO:0006897)|receptor-mediated endocytosis (GO:0006898)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	low-density lipoprotein receptor activity (GO:0005041)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GGCGGGGGCTGAGCACAGCAG	0.517																																																	0													77.0	73.0	74.0					7																	116830921		2203	4300	6503	SO:0001819	synonymous_variant	7982			AJ277291	CCDS5769.1, CCDS5770.1	7q31.2	2008-06-06			ENSG00000004866	ENSG00000004866			11351	protein-coding gene	gene with protein product		600833		FAM4A1		8105370, 8938430	Standard	NM_021908		Approved	TSG7, SEN4, ETS7q, HELG, RAY1, FAM4A	uc003vin.3	Q9NRC1	OTTHUMG00000023888	ENST00000393446.2:c.1116G>A	7.37:g.116830921G>A			A8K137|B4DRQ2	Silent	SNP	pfam_ST7	p.L395	ENST00000393446.2	37	c.1185		7																																																																																			ST7	-	pfam_ST7		0.517	ST7-013	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	ST7	HGNC	protein_coding	OTTHUMT00000319687.1	G	NM_021908		116830921	+1	no_errors	ENST00000265437	ensembl	human	known	70_37	silent	SNP	1.000	A
SYNE1	23345	genome.wustl.edu	37	6	152652986	152652986	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:152652986C>T	ENST00000367255.5	-	78	13435	c.12834G>A	c.(12832-12834)ttG>ttA	p.L4278L	SYNE1_ENST00000341594.5_Silent_p.L4143L|SYNE1_ENST00000265368.4_Silent_p.L4278L|SYNE1_ENST00000423061.1_Silent_p.L4207L|SYNE1_ENST00000448038.1_Silent_p.L4207L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4278					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)		CTAACTTTTTCAAAGCTTCCA	0.373										HNSCC(10;0.0054)																																							0													87.0	88.0	88.0					6																	152652986		2203	4300	6503	SO:0001819	synonymous_variant	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.12834G>A	6.37:g.152652986C>T			E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L4278	ENST00000367255.5	37	c.12834	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.373	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152652986	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	1.000	T
TAB3	257397	genome.wustl.edu	37	X	30872913	30872913	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:30872913G>A	ENST00000378933.1	-	3	1046	c.869C>T	c.(868-870)tCt>tTt	p.S290F	TAB3_ENST00000378932.2_Missense_Mutation_p.S290F|TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Missense_Mutation_p.S290F|TAB3_ENST00000288422.2_Missense_Mutation_p.S290F|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	290	Pro-rich.				activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATGGTAAGCAGACTGAGGGAT	0.502																																					Pancreas(164;1598 1985 29022 43301 49529)												0													135.0	98.0	111.0					X																	30872913		2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.869C>T	X.37:g.30872913G>A	ENSP00000368215:p.Ser290Phe		A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.S290F	ENST00000378933.1	37	c.869	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	15.42	2.828729	0.50845	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.79	4.92	4.92	0.64577	.	0.279981	0.41605	D	0.000860	T	0.64494	0.2603	N	0.19112	0.55	0.44531	D	0.997486	B;B	0.28880	0.226;0.145	B;B	0.34138	0.176;0.085	T	0.61302	-0.7090	10	0.25751	T	0.34	-0.8745	17.5647	0.87916	0.0:0.0:1.0:0.0	.	290;290	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	F	290	ENSP00000368215:S290F;ENSP00000368212:S290F;ENSP00000288422:S290F;ENSP00000368214:S290F	ENSP00000288422:S290F	S	-	2	0	TAB3	30782834	1.000000	0.71417	0.967000	0.41034	0.964000	0.63967	6.696000	0.74598	2.164000	0.68074	0.538000	0.68166	TCT	TAB3	-	NULL		0.502	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30872913	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	0.973	A
TACSTD2	4070	genome.wustl.edu	37	1	59042151	59042151	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:59042151G>A	ENST00000371225.2	-	1	1015	c.678C>T	c.(676-678)ttC>ttT	p.F226F		NM_002353.2	NP_002344.2	P09758	TACD2_HUMAN	tumor-associated calcium signal transducer 2	226					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|negative regulation of branching involved in ureteric bud morphogenesis (GO:0090191)|negative regulation of cell motility (GO:2000146)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ruffle assembly (GO:1900028)|negative regulation of stress fiber assembly (GO:0051497)|negative regulation of substrate adhesion-dependent cell spreading (GO:1900025)|positive regulation of stem cell differentiation (GO:2000738)|regulation of epithelial cell proliferation (GO:0050678)|ureteric bud morphogenesis (GO:0060675)|visual perception (GO:0007601)	basal plasma membrane (GO:0009925)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|nucleus (GO:0005634)	receptor activity (GO:0004872)					all_cancers(7;6.54e-05)					TGTCCCTCTCGAAGTAGTAGG	0.637																																																	0													15.0	18.0	17.0					1																	59042151		2199	4298	6497	SO:0001819	synonymous_variant	4070			X77753	CCDS609.1	1p32	2008-02-05			ENSG00000184292	ENSG00000184292			11530	protein-coding gene	gene with protein product		137290		M1S1		8382772, 11306819	Standard	NM_002353		Approved	TROP2, GA733-1, EGP-1	uc001cyz.4	P09758	OTTHUMG00000010067	ENST00000371225.2:c.678C>T	1.37:g.59042151G>A			Q15658|Q6FG48|Q7Z7Q4|Q96QD2	Silent	SNP	pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.F226	ENST00000371225.2	37	c.678	CCDS609.1	1																																																																																			TACSTD2	-	NULL		0.637	TACSTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACSTD2	HGNC	protein_coding	OTTHUMT00000027818.1	G	NM_002353		59042151	-1	no_errors	ENST00000371225	ensembl	human	known	70_37	silent	SNP	0.995	A
TANC2	26115	genome.wustl.edu	37	17	61476269	61476269	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr17:61476269G>C	ENST00000424789.2	+	17	3107	c.3103G>C	c.(3103-3105)Gag>Cag	p.E1035Q	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.E1035Q	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1035					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCTCTGGGGAGAGACAGGTAC	0.458																																																	0													101.0	110.0	107.0					17																	61476269		1984	4164	6148	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.3103G>C	17.37:g.61476269G>C	ENSP00000387593:p.Glu1035Gln		Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.E1035Q	ENST00000424789.2	37	c.3103	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	32	5.137479	0.94517	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.64991	-0.13;-0.13	5.92	5.92	0.95590	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	T	0.64627	0.2615	N	0.04820	-0.15	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.994	T	0.72740	-0.4202	10	0.62326	D	0.03	.	19.9157	0.97061	0.0:0.0:1.0:0.0	.	1035;1035	Q9HCD6-2;Q9HCD6	.;TANC2_HUMAN	Q	1035	ENSP00000374171:E1035Q;ENSP00000387593:E1035Q	ENSP00000374171:E1035Q	E	+	1	0	TANC2	58830001	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.837000	0.99465	2.813000	0.96785	0.561000	0.74099	GAG	TANC2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61476269	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	C
TATDN2	9797	genome.wustl.edu	37	3	10312369	10312369	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:10312369C>T	ENST00000287652.4	+	4	2554	c.1503C>T	c.(1501-1503)caC>caT	p.H501H	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Silent_p.H501H	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	501					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|DNA catabolic process (GO:0006308)|endoplasmic reticulum unfolded protein response (GO:0030968)	intracellular organelle (GO:0043229)|nucleoplasm (GO:0005654)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CTCATTGTCACCTGGACATGC	0.507																																																	0													86.0	85.0	85.0					3																	10312369		2203	4300	6503	SO:0001819	synonymous_variant	9797			D86972	CCDS33698.1	3p25.3	2010-11-24			ENSG00000157014	ENSG00000157014			28988	protein-coding gene	gene with protein product						9039502	Standard	NM_014760		Approved	KIAA0218	uc003bvf.3	Q93075	OTTHUMG00000155361	ENST00000287652.4:c.1503C>T	3.37:g.10312369C>T			Q3MIL9|Q5BKU0	Silent	SNP	pfam_TatD_family	p.H501	ENST00000287652.4	37	c.1503	CCDS33698.1	3																																																																																			TATDN2	-	pfam_TatD_family		0.507	TATDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TATDN2	HGNC	protein_coding	OTTHUMT00000339641.1	C	XM_376203		10312369	+1	no_errors	ENST00000287652	ensembl	human	known	70_37	silent	SNP	1.000	T
TBX3	6926	genome.wustl.edu	37	12	115109794	115109794	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:115109794C>T	ENST00000257566.3	-	8	2473	c.2084G>A	c.(2083-2085)cGc>cAc	p.R695H	TBX3_ENST00000349155.2_Missense_Mutation_p.R675H	NM_016569.3	NP_057653.3	O15119	TBX3_HUMAN	T-box 3	695	Transcription repression.				anterior/posterior axis specification, embryo (GO:0008595)|atrioventricular bundle cell differentiation (GO:0003167)|blood vessel development (GO:0001568)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cardiac muscle cell fate commitment (GO:0060923)|cell aging (GO:0007569)|cellular senescence (GO:0090398)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|female genitalia development (GO:0030540)|follicle-stimulating hormone secretion (GO:0046884)|forelimb morphogenesis (GO:0035136)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|limbic system development (GO:0021761)|luteinizing hormone secretion (GO:0032275)|male genitalia development (GO:0030539)|mammary gland development (GO:0030879)|mammary placode formation (GO:0060596)|mesoderm morphogenesis (GO:0048332)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|organ morphogenesis (GO:0009887)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|sinoatrial node cell development (GO:0060931)|skeletal system development (GO:0001501)|specification of organ position (GO:0010159)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum morphogenesis (GO:0060412)	nucleus (GO:0005634)	RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0574)		CGTGGAGGAGCGGCTGTTGAG	0.687																																																	0													23.0	20.0	21.0					12																	115109794		2200	4299	6499	SO:0001583	missense	6926			BC025258	CCDS9175.1, CCDS9176.1	12q24.21	2013-09-05	2008-07-31		ENSG00000135111	ENSG00000135111		"""T-boxes"""	11602	protein-coding gene	gene with protein product		601621	"""ulnar mammary syndrome"""	UMS		8988164	Standard	NM_005996		Approved	TBX3-ISO, XHL	uc001tvt.1	O15119	OTTHUMG00000169586	ENST00000257566.3:c.2084G>A	12.37:g.115109794C>T	ENSP00000257566:p.Arg695His		Q8TB20|Q9UKF8	Missense_Mutation	SNP	pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.R695H	ENST00000257566.3	37	c.2084	CCDS9176.1	12	.	.	.	.	.	.	.	.	.	.	C	16.16	3.045596	0.55110	.	.	ENSG00000135111	ENST00000349155;ENST00000257566;ENST00000361100	D;D	0.88124	-2.31;-2.34	4.92	4.92	0.64577	.	2.630220	0.00827	N	0.001626	D	0.87803	0.6269	L	0.50919	1.6	0.48762	D	0.999704	B;B	0.18310	0.006;0.027	B;B	0.12156	0.007;0.007	T	0.59107	-0.7516	10	0.42905	T	0.14	.	17.1152	0.86687	0.0:1.0:0.0:0.0	.	675;695	O15119-2;O15119	.;TBX3_HUMAN	H	675;695;552	ENSP00000257567:R675H;ENSP00000257566:R695H	ENSP00000257566:R695H	R	-	2	0	TBX3	113594177	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.526000	0.53509	2.282000	0.76494	0.563000	0.77884	CGC	TBX3	-	NULL		0.687	TBX3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBX3	HGNC	protein_coding	OTTHUMT00000404947.2	C	NM_016569, NM_005996		115109794	-1	no_errors	ENST00000257566	ensembl	human	known	70_37	missense	SNP	1.000	T
TCOF1	6949	genome.wustl.edu	37	5	149776211	149776211	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:149776211C>T	ENST00000504761.2	+	24	4148	c.4148C>T	c.(4147-4149)tCc>tTc	p.S1383F	TCOF1_ENST00000451292.1_Missense_Mutation_p.S1420F|TCOF1_ENST00000323668.7_Missense_Mutation_p.S1306F|TCOF1_ENST00000445265.2_Missense_Mutation_p.S1307F|TCOF1_ENST00000439160.2_Missense_Mutation_p.S1346F|TCOF1_ENST00000377797.3_Missense_Mutation_p.S1384F|TCOF1_ENST00000513346.1_Missense_Mutation_p.S1383F			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	1383					skeletal system development (GO:0001501)|transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:0042790)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transporter activity (GO:0005215)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAAGACCTCCACGACTTCC	0.587																																																	0													21.0	20.0	20.0					5																	149776211		2202	4300	6502	SO:0001583	missense	6949				CCDS4306.1, CCDS47305.1, CCDS47306.1, CCDS47307.1, CCDS54936.1	5q32	2014-06-18			ENSG00000070814	ENSG00000070814			11654	protein-coding gene	gene with protein product		606847				1765376	Standard	NM_001008657		Approved	treacle, TCS	uc003lry.3	Q13428	OTTHUMG00000130081	ENST00000504761.2:c.4148C>T	5.37:g.149776211C>T	ENSP00000421655:p.Ser1383Phe		A0JLU0|B4E111|Q6SC72|Q7Z5W9|Q96A52|Q99408|Q99860	Missense_Mutation	SNP	pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS	p.S1420F	ENST00000504761.2	37	c.4259	CCDS54936.1	5	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879244	0.33162	.	.	ENSG00000070814	ENST00000451292;ENST00000377797;ENST00000445265;ENST00000323668;ENST00000439160;ENST00000427724;ENST00000504761;ENST00000513346	T;T;T;T;T;T;T;T	0.76448	-1.01;-1.02;-1.02;-1.02;-1.01;-1.0;-1.01;-1.02	4.59	2.65	0.31530	.	0.578181	0.14622	N	0.308330	T	0.68504	0.3008	L	0.29908	0.895	0.09310	N	1	P;P;P;P;P	0.49961	0.815;0.815;0.815;0.93;0.815	B;B;B;P;B	0.47673	0.41;0.329;0.41;0.554;0.329	T	0.58808	-0.7571	10	0.52906	T	0.07	-1.4913	5.9774	0.19389	0.0:0.7014:0.1928:0.1058	.	1346;1306;1345;1383;1307	Q13428-7;Q13428-2;Q13428-6;Q13428;Q13428-8	.;.;.;TCOF_HUMAN;.	F	1420;1384;1307;1306;1346;1345;1383;1383	ENSP00000400939:S1420F;ENSP00000367028:S1384F;ENSP00000409944:S1307F;ENSP00000325223:S1306F;ENSP00000406888:S1346F;ENSP00000390717:S1345F;ENSP00000421655:S1383F;ENSP00000427484:S1383F	ENSP00000325223:S1306F	S	+	2	0	TCOF1	149756404	0.012000	0.17670	0.480000	0.27341	0.386000	0.30323	1.230000	0.32612	1.061000	0.40601	0.561000	0.74099	TCC	TCOF1	-	NULL		0.587	TCOF1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	TCOF1	HGNC	protein_coding	OTTHUMT00000380552.1	C	NM_001008656		149776211	+1	no_errors	ENST00000451292	ensembl	human	known	70_37	missense	SNP	0.085	T
TCTEX1D4	343521	genome.wustl.edu	37	1	45272313	45272313	+	Missense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:45272313G>T	ENST00000339355.2	-	1	34	c.28C>A	c.(28-30)Cgc>Agc	p.R10S	TCTEX1D4_ENST00000372200.1_Missense_Mutation_p.R10S|BTBD19_ENST00000450269.1_5'Flank|BTBD19_ENST00000409335.2_5'Flank|BTBD19_ENST00000453418.1_5'Flank			Q5JR98	TC1D4_HUMAN	Tctex1 domain containing 4	10						acrosomal vesicle (GO:0001669)|axoneme (GO:0005930)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)	protein phosphatase 1 binding (GO:0008157)			pancreas(1)	1	Acute lymphoblastic leukemia(166;0.155)					TCCTCCTGGCGTCCCGGGGGC	0.677																																																	0													9.0	9.0	9.0					1																	45272313		2194	4288	6482	SO:0001583	missense	343521			BC092499	CCDS30699.1	1p34.1	2007-12-17				ENSG00000188396			32315	protein-coding gene	gene with protein product	"""novel Tctex-1 family domain-containing protein"""	611713				12477932	Standard	XM_006710614		Approved		uc001cmp.3	Q5JR98		ENST00000339355.2:c.28C>A	1.37:g.45272313G>T	ENSP00000341803:p.Arg10Ser			Missense_Mutation	SNP	pfam_Tctex	p.R10S	ENST00000339355.2	37	c.28	CCDS30699.1	1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.765451	0.31228	.	.	ENSG00000188396	ENST00000339355;ENST00000372200	T;T	0.25250	1.81;1.81	4.9	-7.95	0.01148	.	1.727610	0.03232	N	0.179166	T	0.14874	0.0359	L	0.27053	0.805	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.25950	-1.0117	10	0.59425	D	0.04	-2.2087	4.7174	0.12901	0.4507:0.0:0.2155:0.3338	.	10	Q5JR98	TC1D4_HUMAN	S	10	ENSP00000341803:R10S;ENSP00000361274:R10S	ENSP00000341803:R10S	R	-	1	0	TCTEX1D4	45044900	0.000000	0.05858	0.000000	0.03702	0.239000	0.25481	-1.063000	0.03465	-1.486000	0.01851	-0.263000	0.10527	CGC	TCTEX1D4	-	NULL		0.677	TCTEX1D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D4	HGNC	protein_coding	OTTHUMT00000023733.1	G	NM_001013632		45272313	-1	no_errors	ENST00000339355	ensembl	human	known	70_37	missense	SNP	0.000	T
TECPR2	9895	genome.wustl.edu	37	14	102829407	102829407	+	5'UTR	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:102829407C>T	ENST00000359520.7	+	0	108				CINP_ENST00000536961.2_5'Flank|CINP_ENST00000541568.2_5'Flank|TECPR2_ENST00000558678.1_5'Flank|CINP_ENST00000216756.6_5'Flank|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2						autophagy (GO:0006914)|cell death (GO:0008219)					breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						CATCCCGCCTCCTCCGGCCCG	0.801																																																	0																																										SO:0001623	5_prime_UTR_variant	9895			AB019441	CCDS32162.1, CCDS58337.1	14q32.33	2009-02-27	2009-02-27	2009-02-27		ENSG00000196663			19957	protein-coding gene	gene with protein product		615000	"""KIAA0329"""	KIAA0329		9205841	Standard	NM_014844		Approved		uc001ylw.2	O15040		ENST00000359520.7:c.-119C>T	14.37:g.102829407C>T			A5PKY3|A6NFY9|A7E2X3|H0YMM9|Q9UEG6	RNA	SNP	-	NULL	ENST00000359520.7	37	NULL	CCDS32162.1	14																																																																																			TECPR2	-	-		0.801	TECPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TECPR2	HGNC	protein_coding	OTTHUMT00000415056.2	C	NM_014844		102829407	+1	no_errors	ENST00000561228	ensembl	human	known	70_37	rna	SNP	1.000	T
TGM3	7053	genome.wustl.edu	37	20	2315841	2315841	+	Silent	SNP	G	G	A	rs201706734		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:2315841G>A	ENST00000381458.5	+	11	1785	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	574					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GGATCACAGCGGTGTGCAAGG	0.552																																																	0								G		0,4406		0,0,2203	171.0	135.0	147.0		1722	-2.4	0.5	20		147	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TGM3	NM_003245.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		574/694	2315841	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	7053			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.1722G>A	20.37:g.2315841G>A			A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Silent	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.A574	ENST00000381458.5	37	c.1722	CCDS33435.1	20																																																																																			TGM3	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.552	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2	G	NM_003245		2315841	+1	no_errors	ENST00000381458	ensembl	human	known	70_37	silent	SNP	0.910	A
THAP1	55145	genome.wustl.edu	37	8	42693360	42693360	+	Silent	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:42693360G>C	ENST00000254250.3	-	3	617	c.387C>G	c.(385-387)ctC>ctG	p.L129L	THAP1_ENST00000345117.2_3'UTR|THAP1_ENST00000532093.1_5'Flank	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	129					cell cycle (GO:0007049)|endothelial cell proliferation (GO:0001935)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGAAAACTGAGAGATTAACAG	0.473																																																	0													117.0	122.0	121.0					8																	42693360		2203	4300	6503	SO:0001819	synonymous_variant	55145			BC021721	CCDS6136.1, CCDS6137.1	8p11.1	2013-01-25			ENSG00000131931	ENSG00000131931		"""THAP (C2CH-type zinc finger) domain containing"""	20856	protein-coding gene	gene with protein product		609520	"""dystonia 6, torsion (autosomal dominant)"""	DYT6		12575992, 12717420, 19182804	Standard	NM_018105		Approved	FLJ10477, 4833431A01Rik	uc003xpk.3	Q9NVV9	OTTHUMG00000165276	ENST00000254250.3:c.387C>G	8.37:g.42693360G>C			A6NCB6|D3DSY5|H9KV49|Q53FQ1|Q6IA99	Silent	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.L129	ENST00000254250.3	37	c.387	CCDS6136.1	8																																																																																			THAP1	-	NULL		0.473	THAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP1	HGNC	protein_coding	OTTHUMT00000383161.1	G	NM_018105		42693360	-1	no_errors	ENST00000254250	ensembl	human	known	70_37	silent	SNP	1.000	C
TMC3	342125	genome.wustl.edu	37	15	81624804	81624804	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:81624804C>T	ENST00000359440.5	-	22	3394	c.3259G>A	c.(3259-3261)Gag>Aag	p.E1087K	RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.E1088K|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACGGTCAGCTCCTGCCCCGAC	0.622																																																	0													22.0	25.0	24.0					15																	81624804		2064	4211	6275	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.3259G>A	15.37:g.81624804C>T	ENSP00000352413:p.Glu1087Lys			Missense_Mutation	SNP	pfam_TMC	p.E1087K	ENST00000359440.5	37	c.3259	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	11.10	1.539973	0.27563	.	.	ENSG00000188869	ENST00000359440	T	0.64618	-0.11	5.31	4.39	0.52855	.	0.240845	0.25324	U	0.031492	T	0.48857	0.1523	L	0.32530	0.975	0.09310	N	1	P	0.35433	0.501	B	0.22386	0.039	T	0.45469	-0.9259	10	0.56958	D	0.05	-5.9591	16.0275	0.80553	0.0:0.8655:0.1345:0.0	.	1087	Q7Z5M5	TMC3_HUMAN	K	1087	ENSP00000352413:E1087K	ENSP00000352413:E1087K	E	-	1	0	TMC3	79411859	0.001000	0.12720	0.177000	0.23020	0.177000	0.22998	0.718000	0.25866	1.217000	0.43442	0.655000	0.94253	GAG	TMC3	-	NULL		0.622	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	C	NM_181841		81624804	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	missense	SNP	0.010	T
TMCO4	255104	genome.wustl.edu	37	1	20009783	20009783	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:20009783G>A	ENST00000294543.6	-	16	1896	c.1655C>T	c.(1654-1656)tCa>tTa	p.S552L	TMCO4_ENST00000375127.1_Missense_Mutation_p.S552L|TMCO4_ENST00000375122.2_Missense_Mutation_p.S512L|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	552						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGTCTCGCCTGATGAGGCGGC	0.672																																																	0													47.0	52.0	50.0					1																	20009783		2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1655C>T	1.37:g.20009783G>A	ENSP00000294543:p.Ser552Leu		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.S552L	ENST00000294543.6	37	c.1655	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	11.15	1.555203	0.27739	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.33216	1.45;1.51;1.42	4.82	2.69	0.31865	.	0.514825	0.16105	N	0.229376	T	0.19967	0.0480	L	0.29908	0.895	0.09310	N	1	B;B;B	0.17038	0.0;0.02;0.001	B;B;B	0.17433	0.0;0.018;0.003	T	0.20240	-1.0281	10	0.29301	T	0.29	-17.6577	7.142	0.25562	0.0992:0.3139:0.5869:0.0	.	136;552;512	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	L	552;552;512	ENSP00000294543:S552L;ENSP00000364269:S552L;ENSP00000364264:S512L	ENSP00000294543:S552L	S	-	2	0	TMCO4	19882370	0.610000	0.26983	0.001000	0.08648	0.001000	0.01503	3.174000	0.50847	0.430000	0.26230	-0.165000	0.13383	TCA	TMCO4	-	NULL		0.672	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	G	NM_181719		20009783	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	missense	SNP	0.000	A
TMCO4	255104	genome.wustl.edu	37	1	20009808	20009808	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:20009808G>A	ENST00000294543.6	-	16	1871	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	TMCO4_ENST00000375127.1_Missense_Mutation_p.R544C|TMCO4_ENST00000375122.2_Missense_Mutation_p.R504C|TMCO4_ENST00000489814.1_5'UTR	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	544						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GCTGCCTGGCGAGGCTCCTCG	0.662																																																	0													36.0	40.0	39.0					1																	20009808		2203	4300	6503	SO:0001583	missense	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.1630C>T	1.37:g.20009808G>A	ENSP00000294543:p.Arg544Cys		Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Missense_Mutation	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.R544C	ENST00000294543.6	37	c.1630	CCDS198.1	1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759646	0.31137	.	.	ENSG00000162542	ENST00000294543;ENST00000375127;ENST00000375122	T;T;T	0.32753	1.45;1.44;1.46	4.98	4.04	0.47022	.	1.497920	0.04259	N	0.340022	T	0.26666	0.0652	N	0.24115	0.695	0.09310	N	1	B;B;B	0.23058	0.001;0.003;0.079	B;B;B	0.13407	0.0;0.001;0.009	T	0.28713	-1.0035	10	0.54805	T	0.06	-9.8988	11.9306	0.52845	0.0:0.0:0.8256:0.1744	.	128;544;504	Q6ZSC6;Q5TGY1;Q5TGY1-2	.;TMCO4_HUMAN;.	C	544;544;504	ENSP00000294543:R544C;ENSP00000364269:R544C;ENSP00000364264:R504C	ENSP00000294543:R544C	R	-	1	0	TMCO4	19882395	0.083000	0.21467	0.012000	0.15200	0.066000	0.16364	1.993000	0.40747	1.182000	0.42928	0.467000	0.42956	CGC	TMCO4	-	NULL		0.662	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	G	NM_181719		20009808	-1	no_errors	ENST00000294543	ensembl	human	known	70_37	missense	SNP	0.005	A
TANGO6	79613	genome.wustl.edu	37	16	68901039	68901039	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr16:68901039C>G	ENST00000261778.1	+	4	922	c.910C>G	c.(910-912)Cta>Gta	p.L304V		NM_024562.1	NP_078838.1	Q9C0B7	TNG6_HUMAN	transport and golgi organization 6 homolog (Drosophila)	304						integral component of membrane (GO:0016021)											GCTTCGGCGTCTATGTGGACA	0.473																																																	0													138.0	136.0	137.0					16																	68901039		1927	4122	6049	SO:0001583	missense	79613				CCDS45516.1	16q22.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000103047	ENSG00000103047			25749	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 7"""	TMCO7		11214970	Standard	NM_024562		Approved	FLJ12688, KIAA1746	uc002ewi.4	Q9C0B7	OTTHUMG00000176743	ENST00000261778.1:c.910C>G	16.37:g.68901039C>G	ENSP00000261778:p.Leu304Val		Q569F9|Q9H9K1	Missense_Mutation	SNP	pfam_DUF2411,superfamily_ARM-type_fold	p.L304V	ENST00000261778.1	37	c.910	CCDS45516.1	16	.	.	.	.	.	.	.	.	.	.	C	21.2	4.110550	0.77210	.	.	ENSG00000103047	ENST00000261778	T	0.71579	-0.58	5.83	4.88	0.63580	.	.	.	.	.	T	0.79992	0.4542	M	0.68952	2.095	0.48135	D	0.999591	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	T	0.76729	-0.2852	9	0.11794	T	0.64	-3.7063	13.9639	0.64196	0.0:0.9258:0.0:0.0742	.	304;143	Q9C0B7;B3KTB6	TMCO7_HUMAN;.	V	304	ENSP00000261778:L304V	ENSP00000261778:L304V	L	+	1	2	TMCO7	67458540	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	4.820000	0.62671	1.470000	0.48102	0.650000	0.86243	CTA	TMCO7	-	NULL		0.473	TANGO6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO7	HGNC	protein_coding	OTTHUMT00000433471.2	C	XM_928235.2		68901039	+1	no_errors	ENST00000261778	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM237	65062	genome.wustl.edu	37	2	202494551	202494551	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:202494551G>A	ENST00000409883.2	-	8	694	c.578C>T	c.(577-579)tCa>tTa	p.S193L	TMEM237_ENST00000409444.2_Missense_Mutation_p.S185L|TMEM237_ENST00000466839.1_5'UTR	NM_001044385.2	NP_001037850.1	Q96Q45	TM237_HUMAN	transmembrane protein 237	193					cilium assembly (GO:0042384)|regulation of Wnt signaling pathway (GO:0030111)	ciliary transition zone (GO:0035869)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)	7						TATCAACTCTGAACGATCAGC	0.438																																																	0													103.0	103.0	103.0					2																	202494551		1915	4125	6040	SO:0001583	missense	65062			AB053301	CCDS46489.1, CCDS46490.1	2q33	2012-05-08	2011-05-20	2011-05-20	ENSG00000155755	ENSG00000155755			14432	protein-coding gene	gene with protein product		614423	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 4"""	ALS2CR4		11586298, 20375344	Standard	NM_001044385		Approved	JBTS14	uc021vvg.2	Q96Q45	OTTHUMG00000154526	ENST00000409883.2:c.578C>T	2.37:g.202494551G>A	ENSP00000386264:p.Ser193Leu		B4E1R8|B4E2R8|E9PAR8|E9PBF8|E9PG24|E9PGX0|Q53TS9|Q53TT2|Q7Z3B6|Q8IZ18|Q8NBF8|Q96CY1	Missense_Mutation	SNP	NULL	p.S193L	ENST00000409883.2	37	c.578	CCDS46489.1	2	.	.	.	.	.	.	.	.	.	.	G	18.32	3.598142	0.66332	.	.	ENSG00000155755	ENST00000409444;ENST00000409883;ENST00000435876;ENST00000426684;ENST00000409099	.	.	.	5.77	5.77	0.91146	.	0.440703	0.26262	N	0.025392	T	0.47691	0.1459	M	0.68952	2.095	0.21719	N	0.999571	P;P	0.35575	0.51;0.51	B;B	0.32864	0.154;0.154	T	0.51466	-0.8702	9	0.48119	T	0.1	-8.3204	15.9156	0.79512	0.0:0.0:0.8642:0.1358	.	193;217	E9PAR8;Q96Q45	.;TM237_HUMAN	L	185;193;193;215;98	.	ENSP00000386949:S98L	S	-	2	0	TMEM237	202202796	0.999000	0.42202	0.917000	0.36280	0.992000	0.81027	5.522000	0.67092	2.885000	0.99019	0.655000	0.94253	TCA	TMEM237	-	NULL		0.438	TMEM237-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM237	HGNC	protein_coding	OTTHUMT00000335753.1	G	NM_152388		202494551	-1	no_errors	ENST00000409883	ensembl	human	known	70_37	missense	SNP	0.230	A
TNK2	10188	genome.wustl.edu	37	3	195595033	195595033	+	Silent	SNP	C	C	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:195595033C>A	ENST00000333602.6	-	12	2708	c.2091G>T	c.(2089-2091)ccG>ccT	p.P697P	TNK2_ENST00000392400.1_Silent_p.P697P|TNK2_ENST00000381916.2_Silent_p.P775P|TNK2_ENST00000428187.1_Silent_p.P729P	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	697	Pro-rich.			Missing (in Ref. 4; AAH08884). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|endocytosis (GO:0006897)|negative regulation of catalytic activity (GO:0043086)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of clathrin-mediated endocytosis (GO:2000369)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|cell junction (GO:0030054)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endosome (GO:0005768)|Grb2-EGFR complex (GO:0070436)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|WW domain binding (GO:0050699)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CGGAGCTGGGCGGCTTGCCCC	0.711																																																	0													11.0	13.0	12.0					3																	195595033		2185	4274	6459	SO:0001819	synonymous_variant	10188			L13738	CCDS33927.1, CCDS33928.1	3q29	2013-09-02			ENSG00000061938	ENSG00000061938			19297	protein-coding gene	gene with protein product	"""activated Cdc42-associated kinase 1"""	606994				8497321, 14506255	Standard	XM_006713460		Approved	p21cdc42Hs, ACK, ACK1	uc003fvt.1	Q07912	OTTHUMG00000155737	ENST00000333602.6:c.2091G>T	3.37:g.195595033C>A			Q6ZMQ0|Q8N6U7|Q96H59	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_GTPase_binding,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P775	ENST00000333602.6	37	c.2325	CCDS33928.1	3																																																																																			TNK2	-	NULL		0.711	TNK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TNK2	HGNC	protein_coding	OTTHUMT00000341437.3	C	NM_005781		195595033	-1	no_errors	ENST00000381916	ensembl	human	known	70_37	silent	SNP	0.050	A
TNKS	8658	genome.wustl.edu	37	8	9634219	9634219	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:9634219C>T	ENST00000310430.6	+	27	3983	c.3957C>T	c.(3955-3957)acC>acT	p.T1319T	TNKS_ENST00000518281.1_Silent_p.T1082T	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	1319					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CTTCCCAGACCGCAACAGCCG	0.473																																																	0													74.0	75.0	74.0					8																	9634219		2203	4300	6503	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.3957C>T	8.37:g.9634219C>T			O95272|Q4G0F2	Silent	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.T1319	ENST00000310430.6	37	c.3957	CCDS5974.1	8																																																																																			TNKS	-	NULL		0.473	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	C	NM_003747		9634219	+1	no_errors	ENST00000310430	ensembl	human	known	70_37	silent	SNP	0.000	T
TOMM40L	84134	genome.wustl.edu	37	1	161198486	161198486	+	Intron	SNP	C	C	T	rs376412907		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:161198486C>T	ENST00000367988.3	+	9	953				TOMM40L_ENST00000367987.1_Intron|MIR5187_ENST00000583479.1_RNA|TOMM40L_ENST00000545897.1_Intron|TOMM40L_ENST00000474486.1_Intron|NR1I3_ENST00000479324.1_5'Flank	NM_032174.4	NP_115550.2	Q969M1	TM40L_HUMAN	translocase of outer mitochondrial membrane 40 homolog (yeast)-like						ion transport (GO:0006811)|protein transport (GO:0015031)	mitochondrial outer membrane (GO:0005741)|pore complex (GO:0046930)|protein complex (GO:0043234)	porin activity (GO:0015288)			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCTCTCTCATCCTTGCCCATG	0.488																																																	0													76.0	65.0	69.0					1																	161198486		2203	4300	6503	SO:0001627	intron_variant	84134				CCDS1227.1, CCDS65700.1	1q23.3	2008-02-05	2007-01-12		ENSG00000158882	ENSG00000158882			25756	protein-coding gene	gene with protein product			"""translocase of outer mitochondrial membrane 40 homolog-like (yeast)"""				Standard	NM_032174		Approved	FLJ12770, TOMM40B	uc001fzd.3	Q969M1	OTTHUMG00000034345	ENST00000367988.3:c.685-19C>T	1.37:g.161198486C>T			B7Z4U0|D3DVG9	RNA	SNP	-	NULL	ENST00000367988.3	37	NULL	CCDS1227.1	1																																																																																			TOMM40L	-	-		0.488	TOMM40L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM40L	HGNC	protein_coding	OTTHUMT00000083029.1	C	NM_032174		161198486	+1	no_errors	ENST00000475793	ensembl	human	known	70_37	rna	SNP	0.055	T
TNR	7143	genome.wustl.edu	37	1	175360461	175360461	+	Silent	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:175360461C>T	ENST00000367674.2	-	7	2178	c.1470G>A	c.(1468-1470)caG>caA	p.Q490Q	TNR_ENST00000263525.2_Silent_p.Q490Q			Q92752	TENR_HUMAN	tenascin R	490	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGCTGCGGGCCTGTTCTTTCA	0.552																																																	0													74.0	75.0	75.0					1																	175360461		2203	4300	6503	SO:0001819	synonymous_variant	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.1470G>A	1.37:g.175360461C>T			C9J563|Q15568|Q5R3G0	Silent	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3	p.Q490	ENST00000367674.2	37	c.1470	CCDS1318.1	1																																																																																			TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.552	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4	C	NM_003285		175360461	-1	no_errors	ENST00000263525	ensembl	human	known	70_37	silent	SNP	1.000	T
TNNT2	7139	genome.wustl.edu	37	1	201334773	201334773	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:201334773G>A	ENST00000509001.1	-	8	515	c.229C>T	c.(229-231)Ccc>Tcc	p.P77S	TNNT2_ENST00000367318.5_Missense_Mutation_p.P77S|TNNT2_ENST00000236918.7_Missense_Mutation_p.P82S|TNNT2_ENST00000421663.2_Missense_Mutation_p.P79S|TNNT2_ENST00000367320.2_Missense_Mutation_p.P86S|TNNT2_ENST00000460780.1_5'Flank|TNNT2_ENST00000367317.4_Missense_Mutation_p.P77S|TNNT2_ENST00000458432.2_Missense_Mutation_p.P89S|TNNT2_ENST00000360372.4_Missense_Mutation_p.P72S|TNNT2_ENST00000367322.1_Missense_Mutation_p.P77S|TNNT2_ENST00000367315.2_Missense_Mutation_p.P77S	NM_001276347.1	NP_001263276.1	P45379	TNNT2_HUMAN	troponin T type 2 (cardiac)	87					ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|muscle filament sliding (GO:0030049)|negative regulation of ATPase activity (GO:0032780)|positive regulation of ATPase activity (GO:0032781)|regulation of heart contraction (GO:0008016)|regulation of muscle contraction (GO:0006937)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytosol (GO:0005829)|sarcomere (GO:0030017)|striated muscle thin filament (GO:0005865)|troponin complex (GO:0005861)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						GGGATCTTGGGAGGCACCAAG	0.592																																																	0													120.0	106.0	111.0					1																	201334773		2203	4300	6503	SO:0001583	missense	7139			X74819	CCDS30968.1, CCDS30969.1, CCDS60390.1, CCDS73002.1, CCDS73003.1	1q32	2014-09-17	2005-09-12		ENSG00000118194	ENSG00000118194			11949	protein-coding gene	gene with protein product		191045	"""troponin T2, cardiac"", ""cardiomyopathy, hypertrophic 2"", ""cardiomyopathy, dilated 1D (autosomal dominant)"""	CMH2, CMD1D		8088824, 8205619, 9482583	Standard	NM_001001430		Approved	CMPD2	uc001gwf.4	P45379	OTTHUMG00000035733	ENST00000509001.1:c.229C>T	1.37:g.201334773G>A	ENSP00000422031:p.Pro77Ser		A2TDB9|A8K3K6|O60214|Q99596|Q99597|Q9BUF6|Q9UM96	Missense_Mutation	SNP	pfam_Troponin	p.P89S	ENST00000509001.1	37	c.265	CCDS30969.1	1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.742188	0.89573	.	.	ENSG00000118194	ENST00000367322;ENST00000367318;ENST00000458432;ENST00000421663;ENST00000236918;ENST00000367317;ENST00000367315;ENST00000360372;ENST00000357848;ENST00000367319;ENST00000367320;ENST00000509001;ENST00000438742;ENST00000455702;ENST00000422165;ENST00000412633	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.99474	-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97;-5.97	4.68	4.68	0.58851	.	0.168493	0.53938	D	0.000044	D	0.99312	0.9759	L	0.54965	1.715	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.83275	0.926;0.996;0.996;0.99;0.964;0.996	D	0.99320	1.0906	10	0.87932	D	0	-17.9571	17.5485	0.87870	0.0:0.0:1.0:0.0	.	72;89;86;87;77;87	E7EPW4;F8WAF6;P45379-3;P45379;Q9BUF6;P45379-10	.;.;.;TNNT2_HUMAN;.;.	S	77;77;89;79;82;77;77;72;73;18;86;77;72;87;82;76	ENSP00000356291:P77S;ENSP00000356287:P77S;ENSP00000387874:P89S;ENSP00000404134:P79S;ENSP00000236918:P82S;ENSP00000356286:P77S;ENSP00000356284:P77S;ENSP00000353535:P72S;ENSP00000356289:P86S;ENSP00000422031:P77S;ENSP00000414036:P72S;ENSP00000402238:P87S;ENSP00000395163:P82S;ENSP00000408731:P76S	ENSP00000236918:P82S	P	-	1	0	TNNT2	199601396	1.000000	0.71417	0.999000	0.59377	0.869000	0.49853	9.613000	0.98350	2.297000	0.77311	0.561000	0.74099	CCC	TNNT2	-	NULL		0.592	TNNT2-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	TNNT2	HGNC	protein_coding	OTTHUMT00000360358.1	G	NM_000364		201334773	-1	no_errors	ENST00000458432	ensembl	human	known	70_37	missense	SNP	1.000	A
TP53BP1	7158	genome.wustl.edu	37	15	43724676	43724676	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:43724676C>G	ENST00000263801.3	-	17	3628	c.3376G>C	c.(3376-3378)Gaa>Caa	p.E1126Q	TP53BP1_ENST00000382039.3_Missense_Mutation_p.E1131Q|TP53BP1_ENST00000382044.4_Missense_Mutation_p.E1131Q|TP53BP1_ENST00000450115.2_Missense_Mutation_p.E1131Q	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1126					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TTCTGGTCTTCTAGCACATCT	0.468								Other conserved DNA damage response genes																																									0													135.0	125.0	129.0					15																	43724676		2201	4298	6499	SO:0001583	missense	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3376G>C	15.37:g.43724676C>G	ENSP00000263801:p.Glu1126Gln		F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Missense_Mutation	SNP	pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom	p.E1131Q	ENST00000263801.3	37	c.3391	CCDS10096.1	15	.	.	.	.	.	.	.	.	.	.	C	10.66	1.412031	0.25465	.	.	ENSG00000067369	ENST00000263801;ENST00000382044;ENST00000382039;ENST00000450115	T;T;T;T	0.04275	3.66;3.66;3.68;3.67	5.44	3.52	0.40303	.	0.862072	0.10373	N	0.682601	T	0.07143	0.0181	M	0.62723	1.935	0.09310	N	1	B;B;B;B	0.30686	0.22;0.191;0.29;0.29	B;B;B;B	0.32864	0.058;0.073;0.154;0.154	T	0.38112	-0.9676	10	0.27785	T	0.31	0.0411	6.9519	0.24550	0.1429:0.7043:0.0:0.1528	.	1131;1126;1131;1131	B7Z3E7;Q12888;Q12888-2;F8VY86	.;TP53B_HUMAN;.;.	Q	1126;1131;1131;1131	ENSP00000263801:E1126Q;ENSP00000371475:E1131Q;ENSP00000371470:E1131Q;ENSP00000393497:E1131Q	ENSP00000263801:E1126Q	E	-	1	0	TP53BP1	41511968	0.001000	0.12720	0.107000	0.21349	0.961000	0.63080	0.408000	0.21065	0.747000	0.32809	0.655000	0.94253	GAA	TP53BP1	-	NULL		0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TP53BP1	HGNC	protein_coding	OTTHUMT00000132897.3	C			43724676	-1	no_errors	ENST00000382044	ensembl	human	known	70_37	missense	SNP	0.027	G
TP73	7161	genome.wustl.edu	37	1	3645929	3645929	+	Silent	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:3645929G>T	ENST00000378295.4	+	10	1268	c.1113G>T	c.(1111-1113)ctG>ctT	p.L371L	TP73_ENST00000346387.4_Silent_p.L371L|TP73_ENST00000378280.1_Silent_p.L322L|TP73_ENST00000604074.1_Silent_p.L371L|TP73_ENST00000357733.3_Silent_p.L371L|TP73_ENST00000378285.1_Silent_p.L322L|TP73_ENST00000378290.4_Silent_p.L300L|TP73_ENST00000354437.4_Silent_p.L371L|TP73_ENST00000604479.1_Silent_p.L371L|TP73_ENST00000603362.1_Silent_p.L371L|TP73_ENST00000378288.4_Silent_p.L322L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	371	Interaction with HIPK2.|Oligomerization. {ECO:0000255}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		TGATGAAGCTGAAAGAGAGCC	0.637																																																	0													94.0	87.0	90.0					1																	3645929		2202	4300	6502	SO:0001819	synonymous_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.1113G>T	1.37:g.3645929G>T			B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.L371	ENST00000378295.4	37	c.1113	CCDS49.1	1																																																																																			TP73	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.637	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	G	NM_005427		3645929	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	1.000	T
TRIM36	55521	genome.wustl.edu	37	5	114466485	114466485	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr5:114466485G>A	ENST00000282369.3	-	9	1757	c.1636C>T	c.(1636-1638)Ctg>Ttg	p.L546L	TRIM36_ENST00000513154.1_Silent_p.L534L|TRIM36_ENST00000514154.1_Silent_p.L391L	NM_018700.3	NP_061170.2	Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	546	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				acrosome reaction (GO:0007340)|regulation of cell cycle (GO:0051726)	acrosomal vesicle (GO:0001669)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		GCAGCAAGCAGAAGATTAAAT	0.423																																																	0													149.0	142.0	145.0					5																	114466485		2202	4300	6502	SO:0001819	synonymous_variant	55521			AJ272269	CCDS4115.1, CCDS34211.1, CCDS34212.1, CCDS75287.1	5q22	2013-02-11	2011-01-25		ENSG00000152503	ENSG00000152503		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	16280	protein-coding gene	gene with protein product	"""zinc-binding protein Rbcc728"", ""tripartite motif protein 36"", ""RING finger protein 98"""	609317	"""tripartite motif-containing 36"""			11331580	Standard	XM_005272031		Approved	RBCC728, RNF98, HAPRIN	uc003kqs.3	Q9NQ86	OTTHUMG00000128892	ENST00000282369.3:c.1636C>T	5.37:g.114466485G>A			A1L3Z1|A6NDD0|B7Z3V4|B7ZAV7|E9PFI8|Q0P5Z9	Silent	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L546	ENST00000282369.3	37	c.1636	CCDS4115.1	5																																																																																			TRIM36	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.423	TRIM36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM36	HGNC	protein_coding	OTTHUMT00000250854.2	G	NM_018700		114466485	-1	no_errors	ENST00000282369	ensembl	human	known	70_37	silent	SNP	0.997	A
TRIM45	80263	genome.wustl.edu	37	1	117660797	117660797	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:117660797G>A	ENST00000256649.4	-	2	1607	c.1081C>T	c.(1081-1083)Caa>Taa	p.Q361*	TRIM45_ENST00000369464.3_Nonsense_Mutation_p.Q361*|TRIM45_ENST00000369461.3_Nonsense_Mutation_p.Q304*	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	361					bone development (GO:0060348)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GTGCTATATTGAACTTTGTTC	0.493																																																	0													106.0	105.0	105.0					1																	117660797		2203	4300	6503	SO:0001587	stop_gained	80263				CCDS893.1, CCDS44200.1	1p13.1	2011-04-20	2011-01-25		ENSG00000134253	ENSG00000134253		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19018	protein-coding gene	gene with protein product		609318	"""tripartite motif-containing 45"""			15351693	Standard	NM_025188		Approved	FLJ13181, RNF99	uc001egz.2	Q9H8W5	OTTHUMG00000012119	ENST00000256649.4:c.1081C>T	1.37:g.117660797G>A	ENSP00000256649:p.Gln361*		Q53GN0|Q5T2K4|Q5T2K5|Q8IYV6	Nonsense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_B-box,pfscan_Znf_RING	p.Q361*	ENST00000256649.4	37	c.1081	CCDS893.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.100000	0.94197	.	.	ENSG00000134253	ENST00000256649;ENST00000369464;ENST00000369461	.	.	.	4.91	4.0	0.46444	.	0.388497	0.30076	N	0.010475	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09338	T	0.73	-10.76	12.8658	0.57937	0.0:0.8333:0.1667:0.0	.	.	.	.	X	361;361;304	.	ENSP00000256649:Q361X	Q	-	1	0	TRIM45	117462320	0.026000	0.19158	0.003000	0.11579	0.004000	0.04260	0.968000	0.29357	1.299000	0.44798	-0.147000	0.13772	CAA	TRIM45	-	NULL		0.493	TRIM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM45	HGNC	protein_coding	OTTHUMT00000033503.1	G	NM_025188		117660797	-1	no_errors	ENST00000256649	ensembl	human	known	70_37	nonsense	SNP	0.004	A
TRMT6	51605	genome.wustl.edu	37	20	5924565	5924565	+	Intron	SNP	T	T	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr20:5924565T>C	ENST00000203001.2	-	5	673				TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Intron	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)						regulation of translational initiation (GO:0006446)|tRNA processing (GO:0008033)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTTCCCCCAATTATACTTTTG	0.338																																																	0													35.0	36.0	36.0					20																	5924565		2202	4297	6499	SO:0001627	intron_variant	51605			AK000613	CCDS13093.1, CCDS63225.1	20p12.3	2009-01-12			ENSG00000089195	ENSG00000089195			20900	protein-coding gene	gene with protein product						16043508	Standard	NM_001281467		Approved	GCD10, MGC5029, Gcd10p, CGI-09	uc002wmh.1	Q9UJA5	OTTHUMG00000031816	ENST00000203001.2:c.542+28A>G	20.37:g.5924565T>C			B4DUV6|Q76P92|Q9BQV5|Q9ULR7|Q9Y2Z8	RNA	SNP	-	NULL	ENST00000203001.2	37	NULL	CCDS13093.1	20																																																																																			TRMT6	-	-		0.338	TRMT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT6	HGNC	protein_coding	OTTHUMT00000077889.2	T			5924565	-1	no_errors	ENST00000473131	ensembl	human	known	70_37	rna	SNP	0.999	C
TRMT61B	55006	genome.wustl.edu	37	2	29087905	29087905	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:29087905C>T	ENST00000306108.5	-	2	803	c.780G>A	c.(778-780)atG>atA	p.M260I		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	260					mitochondrial tRNA methylation (GO:0070901)|protein homooligomerization (GO:0051260)	mitochondrion (GO:0005739)|tRNA (m1A) methyltransferase complex (GO:0031515)	tRNA (adenine-N1-)-methyltransferase activity (GO:0016429)			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						AAAATAAGCTCATTCCACCAG	0.358																																																	0													69.0	62.0	65.0					2																	29087905		2203	4300	6503	SO:0001583	missense	55006			BC010365	CCDS1768.1	2p23.2	2009-01-09			ENSG00000171103	ENSG00000171103			26070	protein-coding gene	gene with protein product						11230166	Standard	NM_017910		Approved	FLJ20628	uc002rmm.3	Q9BVS5	OTTHUMG00000128433	ENST00000306108.5:c.780G>A	2.37:g.29087905C>T	ENSP00000302801:p.Met260Ile		Q9H0Q9|Q9NWS7	Missense_Mutation	SNP	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT	p.M260I	ENST00000306108.5	37	c.780	CCDS1768.1	2	.	.	.	.	.	.	.	.	.	.	C	26.2	4.713455	0.89112	.	.	ENSG00000171103	ENST00000306108	T	0.40756	1.02	5.31	5.31	0.75309	.	0.054850	0.64402	D	0.000002	T	0.50154	0.1599	L	0.28504	0.86	0.36535	D	0.87093	P;D	0.64830	0.745;0.994	B;P	0.57502	0.303;0.822	T	0.59925	-0.7362	10	0.72032	D	0.01	.	18.9807	0.92754	0.0:1.0:0.0:0.0	.	260;260	F8WDR2;Q9BVS5	.;TR61B_HUMAN	I	260	ENSP00000302801:M260I	ENSP00000302801:M260I	M	-	3	0	TRMT61B	28941409	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.458000	0.53014	2.478000	0.83669	0.650000	0.86243	ATG	TRMT61B	-	pfam_tRNA_MeTrfase_GCD14,pfam_PCMT		0.358	TRMT61B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRMT61B	HGNC	protein_coding	OTTHUMT00000250224.1	C	NM_017910		29087905	-1	no_errors	ENST00000306108	ensembl	human	known	70_37	missense	SNP	1.000	T
TSSC4	10078	genome.wustl.edu	37	11	2424850	2424850	+	Silent	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:2424850C>G	ENST00000333256.6	+	3	1430	c.987C>G	c.(985-987)gtC>gtG	p.V329V	TSSC4_ENST00000380992.1_3'UTR|TSSC4_ENST00000380996.5_Silent_p.V265V|TSSC4_ENST00000467308.1_3'UTR|TSSC4_ENST00000451491.2_Silent_p.V329V|AC124057.5_ENST00000433035.1_RNA			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	329										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCTGAGGTCTGAGAGGGAG	0.657																																																	0													24.0	24.0	24.0					11																	2424850		2200	4295	6495	SO:0001819	synonymous_variant	10078			AF125568	CCDS7735.1, CCDS73241.1	11p15.5	2008-02-05			ENSG00000184281	ENSG00000184281			12386	protein-coding gene	gene with protein product		603852				10072438	Standard	XM_005252722		Approved		uc001lwl.3	Q9Y5U2	OTTHUMG00000009895	ENST00000333256.6:c.987C>G	11.37:g.2424850C>G			C9JS66|Q86VL2|Q9BRS6	Silent	SNP	NULL	p.V329	ENST00000333256.6	37	c.987	CCDS7735.1	11																																																																																			TSSC4	-	NULL		0.657	TSSC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC4	HGNC	protein_coding	OTTHUMT00000027369.3	C	NM_005706		2424850	+1	no_errors	ENST00000333256	ensembl	human	known	70_37	silent	SNP	0.000	G
TTBK1	84630	genome.wustl.edu	37	6	43237400	43237400	+	Intron	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr6:43237400C>T	ENST00000259750.4	+	13	2069				TTBK1_ENST00000304139.5_Missense_Mutation_p.S618L	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1						substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GACAGACTCTCGGGGCACTCC	0.647																																																	0													42.0	42.0	42.0					6																	43237400		876	1991	2867	SO:0001627	intron_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1986+6312C>T	6.37:g.43237400C>T			A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L571	ENST00000259750.4	37	c.1713	CCDS34455.1	6																																																																																			TTBK1	-	NULL		0.647	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43237400	+1	no_errors	ENST00000304139	ensembl	human	putative	70_37	silent	SNP	1.000	T
TTC17	55761	genome.wustl.edu	37	11	43400840	43400840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:43400840G>T	ENST00000039989.4	+	2	231	c.217G>T	c.(217-219)Gaa>Taa	p.E73*	TTC17_ENST00000299240.6_Nonsense_Mutation_p.E73*|RP11-484D2.5_ENST00000530042.1_RNA	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	73					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AATGAGACAAGAAGCAACAGT	0.398																																																	0													148.0	148.0	148.0					11																	43400840		2203	4300	6503	SO:0001587	stop_gained	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.217G>T	11.37:g.43400840G>T	ENSP00000039989:p.Glu73*		G3XAB3|Q8NEC0	Nonsense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E73*	ENST00000039989.4	37	c.217	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.479097	0.96307	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	.	.	.	4.86	4.86	0.63082	.	0.045509	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-16.8512	17.9549	0.89065	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000039989:E73X	E	+	1	0	TTC17	43357416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.927000	0.87577	2.391000	0.81399	0.557000	0.71058	GAA	TTC17	-	NULL		0.398	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	G	NM_018259		43400840	+1	no_errors	ENST00000039989	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TTLL10	254173	genome.wustl.edu	37	1	1114803	1114805	+	Intron	DEL	CCT	CCT	-			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	CCT	CCT					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:1114803_1114805delCCT	ENST00000379290.1	+	4	291				TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_5'Flank|TTLL10_ENST00000379289.1_Intron			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGTCAGTCGGCCTCATGGGGCAG	0.67																																																	0																																										SO:0001627	intron_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.118+90CCT>-	1.37:g.1114803_1114805delCCT			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	DEL	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.670	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	CCT	NM_153254		1114805	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	DEL	0.000:0.005:0.001	-
TTLL10	254173	genome.wustl.edu	37	1	1114808	1114808	+	Intron	DEL	T	T	-			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:1114808delT	ENST00000379290.1	+	4	291				TTLL10-AS1_ENST00000379317.1_RNA|TTLL10_ENST00000379288.3_5'Flank|TTLL10_ENST00000379289.1_Intron			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10						cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTCGGCCTCATGGGGCAGGGG	0.677																																																	0																																										SO:0001627	intron_variant	100506376			AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.118+95T>-	1.37:g.1114808delT			B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	RNA	DEL	-	NULL	ENST00000379290.1	37	NULL	CCDS44036.1	1																																																																																			TTLL10-AS1	-	-		0.677	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL10-AS1	HGNC	protein_coding	OTTHUMT00000002421.3	T	NM_153254		1114808	-1	no_errors	ENST00000379317	ensembl	human	known	70_37	rna	DEL	0.000	-
TTLL5	23093	genome.wustl.edu	37	14	76165591	76165591	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr14:76165591G>A	ENST00000298832.9	+	7	768	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	TTLL5_ENST00000557636.1_Missense_Mutation_p.R188Q|TTLL5_ENST00000286650.5_Missense_Mutation_p.R188Q|TTLL5_ENST00000555422.1_3'UTR	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	188	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGGGGGCGGGGCGTCTAC	0.433																																																	0													86.0	80.0	82.0					14																	76165591		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.563G>A	14.37:g.76165591G>A	ENSP00000298832:p.Arg188Gln		B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R188Q	ENST00000298832.9	37	c.563	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	36	5.601031	0.96614	.	.	ENSG00000119685	ENST00000557636;ENST00000286650;ENST00000298832	T;T;T	0.09350	2.99;3.45;2.99	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.33847	0.0877	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.75484	0.976;0.986;0.969	T	0.01464	-1.1348	10	0.59425	D	0.04	.	17.8457	0.88729	0.0:0.0:1.0:0.0	.	188;188;188	G3V2J9;Q6EMB2;Q6EMB2-3	.;TTLL5_HUMAN;.	Q	188	ENSP00000450713:R188Q;ENSP00000286650:R188Q;ENSP00000298832:R188Q	ENSP00000286650:R188Q	R	+	2	0	TTLL5	75235344	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	8.864000	0.92294	2.744000	0.94065	0.655000	0.94253	CGG	TTLL5	-	pfam_Tub_tyr_ligase		0.433	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	G	NM_015072		76165591	+1	no_errors	ENST00000298832	ensembl	human	known	70_37	missense	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179547593	179547593	+	Silent	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr2:179547593G>T	ENST00000591111.1	-	133	32198	c.31974C>A	c.(31972-31974)acC>acA	p.T10658T	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.T10975T|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.T9731T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTCTTCTAGGGTATAAGCCC	0.333																																																	0													161.0	136.0	144.0					2																	179547593		1832	4079	5911	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.31974C>A	2.37:g.179547593G>T			A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T9731	ENST00000591111.1	37	c.29193		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.333	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179547593	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.000	T
TXLNG	55787	genome.wustl.edu	37	X	16836838	16836838	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:16836838G>A	ENST00000380122.5	+	2	305	c.244G>A	c.(244-246)Gag>Aag	p.E82K	TXLNG_ENST00000398155.4_Intron	NM_018360.2	NP_060830.2	Q9NUQ3	TXLNG_HUMAN	taxilin gamma	82					cell cycle (GO:0007049)|regulation of bone mineralization (GO:0030500)|regulation of cell cycle (GO:0051726)|regulation of cell cycle process (GO:0010564)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)	protein heterodimerization activity (GO:0046982)			breast(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	15						TTCATTGGAAGAGGATGAAGG	0.438																																																	0													152.0	138.0	142.0					X																	16836838		2203	4300	6503	SO:0001583	missense	55787			AK002071	CCDS14178.1, CCDS55373.1	Xp22.2	2014-05-07	2010-04-20	2010-04-20	ENSG00000086712	ENSG00000086712			18578	protein-coding gene	gene with protein product	"""lipopolysaccharide specific response-5 protein"", ""factor inhibiting activating transcription factor 4 (ATF4)-mediated transcription"""	300677	"""chromosome X open reading frame 15"""	CXorf15		15911876, 15184072, 16831913	Standard	NM_018360		Approved	FLJ11209, LSR5, FIAT, MGC126621, MGC126625, TXLNGX	uc004cxq.2	Q9NUQ3	OTTHUMG00000021196	ENST00000380122.5:c.244G>A	X.37:g.16836838G>A	ENSP00000369465:p.Glu82Lys		Q2KQ75|Q5JNZ7|Q9P0X1	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E82K	ENST00000380122.5	37	c.244	CCDS14178.1	X	.	.	.	.	.	.	.	.	.	.	g	17.81	3.480354	0.63849	.	.	ENSG00000086712	ENST00000380122	T	0.36520	1.25	4.82	4.82	0.62117	.	0.454268	0.21597	N	0.072007	T	0.33818	0.0876	L	0.43152	1.355	0.80722	D	1	B	0.23937	0.094	B	0.23852	0.049	T	0.08597	-1.0714	10	0.27785	T	0.31	-8.2055	17.1634	0.86809	0.0:0.0:1.0:0.0	.	82	Q9NUQ3	TXLNG_HUMAN	K	82	ENSP00000369465:E82K	ENSP00000369465:E82K	E	+	1	0	TXLNG	16746759	1.000000	0.71417	0.973000	0.42090	0.924000	0.55760	6.608000	0.74168	1.973000	0.57446	0.417000	0.27973	GAG	TXLNG	-	NULL		0.438	TXLNG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNG	HGNC	protein_coding	OTTHUMT00000055912.1	G	NM_018360		16836838	+1	no_errors	ENST00000380122	ensembl	human	known	70_37	missense	SNP	0.996	A
UBR1	197131	genome.wustl.edu	37	15	43270092	43270092	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:43270092G>A	ENST00000290650.4	-	38	4282	c.4204C>T	c.(4204-4206)Ctg>Ttg	p.L1402L	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1402					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ACATGAAACAGATCTATAGAC	0.303																																																	0													133.0	121.0	125.0					15																	43270092		2203	4295	6498	SO:0001819	synonymous_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.4204C>T	15.37:g.43270092G>A			O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L1402	ENST00000290650.4	37	c.4204	CCDS10091.1	15																																																																																			UBR1	-	NULL		0.303	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	G	NM_174916		43270092	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	silent	SNP	0.991	A
UGT2B7	7364	genome.wustl.edu	37	4	69962710	69962710	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr4:69962710G>A	ENST00000508661.1	+	1	499	c.472G>A	c.(472-474)Gag>Aag	p.E158K	UGT2B7_ENST00000305231.7_Missense_Mutation_p.E158K|UGT2B7_ENST00000509763.1_Intron			P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	158					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	TCCCTGTAGTGAGCTGCTGGC	0.368																																																	0													137.0	137.0	137.0					4																	69962710		2203	4299	6502	SO:0001583	missense	7364			BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000508661.1:c.472G>A	4.37:g.69962710G>A	ENSP00000427659:p.Glu158Lys		B2R810|Q6GTW0	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.E158K	ENST00000508661.1	37	c.472		4	.	.	.	.	.	.	.	.	.	.	G	16.20	3.055578	0.55325	.	.	ENSG00000171234	ENST00000305231;ENST00000508661	T;T	0.60548	0.18;0.18	2.54	2.54	0.30619	.	0.081913	0.47852	U	0.000201	T	0.77116	0.4083	M	0.92604	3.325	0.26437	N	0.975838	P;P	0.51147	0.942;0.736	P;P	0.62435	0.902;0.641	T	0.69665	-0.5084	9	.	.	.	.	10.7765	0.46353	0.0:0.0:1.0:0.0	.	158;158	E9PBP8;P16662	.;UD2B7_HUMAN	K	158	ENSP00000304811:E158K;ENSP00000427659:E158K	.	E	+	1	0	UGT2B7	69997299	1.000000	0.71417	0.539000	0.28077	0.027000	0.11550	5.430000	0.66501	1.408000	0.46895	0.313000	0.20887	GAG	UGT2B7	-	pfam_UDP_glucos_trans		0.368	UGT2B7-002	PUTATIVE	basic|exp_conf	protein_coding	UGT2B7	HGNC	protein_coding	OTTHUMT00000362103.1	G	NM_001074		69962710	+1	no_errors	ENST00000305231	ensembl	human	known	70_37	missense	SNP	0.997	A
USH2A	7399	genome.wustl.edu	37	1	216595454	216595454	+	Missense_Mutation	SNP	A	A	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:216595454A>C	ENST00000307340.3	-	2	611	c.225T>G	c.(223-225)agT>agG	p.S75R	USH2A_ENST00000366943.2_Missense_Mutation_p.S75R|USH2A_ENST00000366942.3_Missense_Mutation_p.S75R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	75					hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAACTGAATACTTTCAGCAG	0.498										HNSCC(13;0.011)																																							0													102.0	98.0	99.0					1																	216595454		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.225T>G	1.37:g.216595454A>C	ENSP00000305941:p.Ser75Arg		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.S75R	ENST00000307340.3	37	c.225	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	15.80	2.941081	0.53079	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.20463	2.51;2.5;2.07	5.27	-4.57	0.03421	.	0.581325	0.15099	U	0.280658	T	0.21631	0.0521	L	0.57536	1.79	0.09310	N	1	P;P	0.43477	0.773;0.808	B;B	0.42555	0.316;0.391	T	0.10222	-1.0639	10	0.40728	T	0.16	.	15.0607	0.71951	0.3651:0.0:0.6349:0.0	.	75;75	O75445-2;O75445	.;USH2A_HUMAN	R	75	ENSP00000305941:S75R;ENSP00000355910:S75R;ENSP00000355909:S75R	ENSP00000305941:S75R	S	-	3	2	USH2A	214662077	0.001000	0.12720	0.000000	0.03702	0.424000	0.31475	0.040000	0.13905	-0.951000	0.03654	0.482000	0.46254	AGT	USH2A	-	NULL		0.498	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	A	NM_007123		216595454	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.000	C
USP3	9960	genome.wustl.edu	37	15	63880981	63880981	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:63880981G>A	ENST00000380324.3	+	13	1425	c.1296G>A	c.(1294-1296)ctG>ctA	p.L432L	USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559357.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3-AS1_ENST00000560622.1_RNA|USP3_ENST00000559711.1_Silent_p.L343L|USP3-AS1_ENST00000561191.1_RNA|USP3_ENST00000558218.1_3'UTR|USP3_ENST00000268049.7_Silent_p.L410L|USP3-AS1_ENST00000559737.1_RNA|USP3_ENST00000558285.1_Silent_p.L415L|USP3_ENST00000539772.1_Silent_p.L183L|USP3_ENST00000540797.1_Silent_p.L388L|USP3-AS1_ENST00000561256.1_RNA|USP3-AS1_ENST00000558831.1_RNA	NM_006537.3	NP_006528.2	Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	432	USP.				DNA repair (GO:0006281)|histone deubiquitination (GO:0016578)|mitotic cell cycle (GO:0000278)|regulation of protein stability (GO:0031647)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear chromatin (GO:0000790)	histone binding (GO:0042393)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AATTTCCACTGAGAGGCCTAG	0.383																																																	0													123.0	124.0	123.0					15																	63880981		2203	4300	6503	SO:0001819	synonymous_variant	9960			AF073344	CCDS32265.1, CCDS58370.1	15q22.3	2008-04-11	2005-08-08			ENSG00000140455		"""Ubiquitin-specific peptidases"""	12626	protein-coding gene	gene with protein product		604728	"""ubiquitin specific protease 3"""			12838346	Standard	NM_006537		Approved		uc002amf.4	Q9Y6I4		ENST00000380324.3:c.1296G>A	15.37:g.63880981G>A			B4DVU5|F5H1A6|Q8WVD0	Silent	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.L432	ENST00000380324.3	37	c.1296	CCDS32265.1	15																																																																																			USP3	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.383	USP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP3	HGNC	protein_coding	OTTHUMT00000417773.1	G			63880981	+1	no_errors	ENST00000380324	ensembl	human	known	70_37	silent	SNP	1.000	A
USPL1	10208	genome.wustl.edu	37	13	31205523	31205523	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr13:31205523G>A	ENST00000255304.4	+	4	1122	c.780G>A	c.(778-780)tcG>tcA	p.S260S	USPL1_ENST00000465952.1_3'UTR	NM_005800.4	NP_005791.3	Q5W0Q7	USPL1_HUMAN	ubiquitin specific peptidase like 1	260	SUMO-binding.|USP.				Cajal body organization (GO:0030576)|cell proliferation (GO:0008283)|protein desumoylation (GO:0016926)	Cajal body (GO:0015030)|extracellular space (GO:0005615)	SUMO binding (GO:0032183)|SUMO-specific isopeptidase activity (GO:0070140)			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		GACTGTGCTCGAAGGAGGAAT	0.408																																					Ovarian(60;318 1180 1554 28110 31601)												0													135.0	135.0	135.0					13																	31205523		2203	4300	6503	SO:0001819	synonymous_variant	10208			X59131	CCDS9336.1	13q12-q14	2012-11-14	2005-11-24	2005-11-24	ENSG00000132952	ENSG00000132952			20294	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 22"""	C13orf22		22878415	Standard	NM_005800		Approved	bA121O19.1, D13S106E	uc001utc.2	Q5W0Q7	OTTHUMG00000016675	ENST00000255304.4:c.780G>A	13.37:g.31205523G>A			Q14109|Q6AI45|Q8IY30|Q8IYE8	Silent	SNP	pfscan_Peptidase_C19	p.S260	ENST00000255304.4	37	c.780	CCDS9336.1	13																																																																																			USPL1	-	pfscan_Peptidase_C19		0.408	USPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USPL1	HGNC	protein_coding	OTTHUMT00000044369.1	G	NM_005800		31205523	+1	no_errors	ENST00000255304	ensembl	human	known	70_37	silent	SNP	0.000	A
UTP20	27340	genome.wustl.edu	37	12	101769513	101769513	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr12:101769513G>A	ENST00000261637.4	+	56	7549	c.7375G>A	c.(7375-7377)Gag>Aag	p.E2459K		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2459					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CAAACCCGCTGAGACTTTGAG	0.303																																																	0													61.0	61.0	61.0					12																	101769513		2203	4300	6503	SO:0001583	missense	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.7375G>A	12.37:g.101769513G>A	ENSP00000261637:p.Glu2459Lys		Q9H3H4	Missense_Mutation	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.E2459K	ENST00000261637.4	37	c.7375	CCDS9081.1	12	.	.	.	.	.	.	.	.	.	.	G	10.08	1.251837	0.22880	.	.	ENSG00000120800	ENST00000261637	T	0.66460	-0.21	5.32	3.48	0.39840	Armadillo-type fold (1);	0.304616	0.34531	N	0.003900	T	0.58836	0.2150	L	0.59436	1.845	0.27941	N	0.937505	B	0.02656	0.0	B	0.06405	0.002	T	0.48210	-0.9055	10	0.21540	T	0.41	-12.9756	10.8508	0.46769	0.0709:0.1311:0.7979:0.0	.	2459	O75691	UTP20_HUMAN	K	2459	ENSP00000261637:E2459K	ENSP00000261637:E2459K	E	+	1	0	UTP20	100293644	1.000000	0.71417	0.814000	0.32528	0.004000	0.04260	4.965000	0.63708	0.609000	0.30018	-0.136000	0.14681	GAG	UTP20	-	superfamily_ARM-type_fold		0.303	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	G	NM_014503		101769513	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	missense	SNP	0.519	A
XKR4	114786	genome.wustl.edu	37	8	56015610	56015610	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:56015610C>T	ENST00000327381.6	+	1	662	c.562C>T	c.(562-564)Cct>Tct	p.P188S		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	188						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			CTGCCCGCAGCCTGGAGCCGA	0.652																																																	0													22.0	22.0	22.0					8																	56015610		2189	4272	6461	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.562C>T	8.37:g.56015610C>T	ENSP00000328326:p.Pro188Ser		Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.P188S	ENST00000327381.6	37	c.562	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	2.096	-0.407259	0.04832	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	D	0.83075	-1.68	5.04	0.149	0.14863	.	2.230770	0.03010	N	0.149390	T	0.72053	0.3413	N	0.24115	0.695	0.09310	N	1	B	0.11235	0.004	B	0.12837	0.008	T	0.54761	-0.8245	10	0.38643	T	0.18	0.7866	4.754	0.13075	0.1356:0.4979:0.0:0.3665	.	188	Q5GH76	XKR4_HUMAN	S	188	ENSP00000328326:P188S	ENSP00000328326:P188S	P	+	1	0	XKR4	56178164	0.953000	0.32496	0.516000	0.27786	0.005000	0.04900	0.292000	0.19011	-0.158000	0.11040	-0.133000	0.14855	CCT	XKR4	-	pfam_Transport_prot_XK		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56015610	+1	no_errors	ENST00000327381	ensembl	human	known	70_37	missense	SNP	0.039	T
XXYLT1	152002	genome.wustl.edu	37	3	194947580	194947580	+	Silent	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:194947580G>A	ENST00000310380.6	-	2	618	c.510C>T	c.(508-510)atC>atT	p.I170I	XXYLT1_ENST00000429994.1_Silent_p.I24I	NM_152531.4	NP_689744.3	Q8NBI6	XXLT1_HUMAN	xyloside xylosyltransferase 1	170						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring pentosyl groups (GO:0016763)										CATCGTGGAAGATGACCTGCA	0.542																																																	0													59.0	60.0	60.0					3																	194947580		2067	4205	6272	SO:0001819	synonymous_variant	152002			AK075551	CCDS43188.1	3q29	2013-02-22	2011-10-19	2011-10-19	ENSG00000173950	ENSG00000173950		"""Glycosyltransferase family 8 domain containing"""	26639	protein-coding gene	gene with protein product		614552	"""chromosome 3 open reading frame 21"""	C3orf21		22117070	Standard	NM_152531		Approved	FLJ35155	uc003fum.4	Q8NBI6	OTTHUMG00000155915	ENST00000310380.6:c.510C>T	3.37:g.194947580G>A			D3DNW5|Q8NAL3|Q8WV03|Q96ME0	Silent	SNP	pfam_Glyco_trans_8	p.I170	ENST00000310380.6	37	c.510	CCDS43188.1	3																																																																																			XXYLT1	-	NULL		0.542	XXYLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XXYLT1	HGNC	protein_coding	OTTHUMT00000342290.1	G	NM_152531		194947580	-1	no_errors	ENST00000310380	ensembl	human	known	70_37	silent	SNP	0.950	A
YWHAZ	7534	genome.wustl.edu	37	8	101961105	101961105	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr8:101961105C>G	ENST00000395957.2	-	3	354	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	YWHAZ_ENST00000395958.2_Missense_Mutation_p.E5Q|YWHAZ_ENST00000395951.3_Missense_Mutation_p.E5Q|YWHAZ_ENST00000395956.3_Missense_Mutation_p.E5Q|YWHAZ_ENST00000353245.3_Missense_Mutation_p.E5Q|YWHAZ_ENST00000457309.1_Missense_Mutation_p.E5Q|YWHAZ_ENST00000395948.2_Intron|YWHAZ_ENST00000419477.2_Missense_Mutation_p.E5Q|YWHAZ_ENST00000521309.1_Intron|YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000395953.2_Missense_Mutation_p.E5Q			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	5					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|gene expression (GO:0010467)|histamine secretion by mast cell (GO:0002553)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|platelet activation (GO:0030168)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|protein targeting to mitochondrion (GO:0006626)|response to drug (GO:0042493)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mast cell granule (GO:0042629)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|transcription factor binding (GO:0008134)			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)			TGAACCAGCTCATTTTTATCC	0.418																																																	0													41.0	48.0	46.0					8																	101961105		1953	3661	5614	SO:0001583	missense	7534			U28964	CCDS6290.1	8q22.3	2013-12-03	2013-12-03		ENSG00000164924	ENSG00000164924			12855	protein-coding gene	gene with protein product	"""14-3-3 zeta"", ""14-3-3 delta"""	601288	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, delta polypeptide"", ""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide"""	YWHAD		8617504, 7890696	Standard	NM_003406		Approved	KCIP-1, 14-3-3-zeta	uc010mbr.2	P63104	OTTHUMG00000134291	ENST00000395957.2:c.13G>C	8.37:g.101961105C>G	ENSP00000379287:p.Glu5Gln		A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Missense_Mutation	SNP	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.E5Q	ENST00000395957.2	37	c.13	CCDS6290.1	8	.	.	.	.	.	.	.	.	.	.	C	16.03	3.006644	0.54361	.	.	ENSG00000164924	ENST00000395957;ENST00000457309;ENST00000395958;ENST00000395956;ENST00000353245;ENST00000395953;ENST00000395951;ENST00000419477;ENST00000521607;ENST00000521328;ENST00000418997;ENST00000437293;ENST00000523131;ENST00000523938	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.47869	0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83;0.83	5.49	5.49	0.81192	14-3-3 domain (4);	0.000000	0.64402	D	0.000003	T	0.49270	0.1547	L	0.60957	1.885	0.80722	D	1	B;B	0.17268	0.021;0.021	B;B	0.18263	0.021;0.021	T	0.42207	-0.9465	10	0.45353	T	0.12	.	19.3553	0.94410	0.0:1.0:0.0:0.0	.	5;5	D0PNI1;P63104	.;1433Z_HUMAN	Q	5	ENSP00000379287:E5Q;ENSP00000398599:E5Q;ENSP00000379288:E5Q;ENSP00000379286:E5Q;ENSP00000309503:E5Q;ENSP00000379283:E5Q;ENSP00000379281:E5Q;ENSP00000395114:E5Q;ENSP00000430058:E5Q;ENSP00000429041:E5Q;ENSP00000416551:E5Q;ENSP00000394880:E5Q;ENSP00000428381:E5Q;ENSP00000430219:E5Q	ENSP00000309503:E5Q	E	-	1	0	YWHAZ	102030281	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.445000	0.80570	2.583000	0.87209	0.655000	0.94253	GAG	YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3		0.418	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	C	NM_145690		101961105	-1	no_errors	ENST00000353245	ensembl	human	known	70_37	missense	SNP	1.000	G
ZBED5	58486	genome.wustl.edu	37	11	10876296	10876296	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr11:10876296C>T	ENST00000432999.2	-	3	695	c.197G>A	c.(196-198)gGa>gAa	p.G66E	ZBED5_ENST00000525350.1_Intron|ZBED5_ENST00000413761.2_Missense_Mutation_p.G66E	NM_001143667.1|NM_021211.3	NP_001137139.1|NP_067034.2	Q49AG3	ZBED5_HUMAN	zinc finger, BED-type containing 5	66							DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)	4						ttgtaatattccaaccttctg	0.353																																																	0													70.0	63.0	65.0					11																	10876296		692	1590	2282	SO:0001583	missense	58486			AF205601		11p15.3	2013-05-03			ENSG00000236287	ENSG00000236287		"""Zinc fingers, BED-type"""	30803	protein-coding gene	gene with protein product		615251				10607616, 23533661	Standard	NM_021211		Approved	Buster1	uc009ygh.3	Q49AG3	OTTHUMG00000150341	ENST00000432999.2:c.197G>A	11.37:g.10876296C>T	ENSP00000398106:p.Gly66Glu		B2RCC1|Q05D82|Q86WW3|Q9NT24|Q9UBJ4	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd	p.G66E	ENST00000432999.2	37	c.197		11	.	.	.	.	.	.	.	.	.	.	C	5.563	0.288776	0.10513	.	.	ENSG00000236287	ENST00000432999;ENST00000413761;ENST00000526020;ENST00000526852;ENST00000534690	T;T;T;T;T	0.53640	2.61;2.61;1.27;1.23;0.61	4.1	4.1	0.47936	.	.	.	.	.	T	0.47002	0.1422	N	0.08118	0	0.32960	D	0.520954	D	0.76494	0.999	D	0.76575	0.988	T	0.57300	-0.7835	9	0.52906	T	0.07	.	12.118	0.53875	0.0:1.0:0.0:0.0	.	66	Q49AG3	ZBED5_HUMAN	E	66	ENSP00000398106:G66E;ENSP00000415939:G66E;ENSP00000433093:G66E;ENSP00000435663:G66E;ENSP00000435491:G66E	ENSP00000415939:G66E	G	-	2	0	ZBED5	10832872	1.000000	0.71417	1.000000	0.80357	0.782000	0.44232	2.922000	0.48860	2.585000	0.87301	0.650000	0.86243	GGA	ZBED5	-	NULL		0.353	ZBED5-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ZBED5	HGNC	protein_coding	OTTHUMT00000317691.1	C	NM_021211		10876296	-1	no_errors	ENST00000413761	ensembl	human	putative	70_37	missense	SNP	1.000	T
ZBTB47	92999	genome.wustl.edu	37	3	42700892	42700892	+	Nonsense_Mutation	SNP	G	G	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr3:42700892G>T	ENST00000232974.6	+	2	1326	c.1045G>T	c.(1045-1047)Gag>Tag	p.E349*	ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000457842.3_5'UTR			Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	349	Glu-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		Tgaggaggaggagggggagga	0.662																																																	0													3.0	7.0	6.0					3																	42700892		567	1419	1986	SO:0001587	stop_gained	92999			AB033016	CCDS46805.1, CCDS46805.2	3p22.1	2013-01-08	2006-09-19	2006-09-19	ENSG00000114853	ENSG00000114853		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26955	protein-coding gene	gene with protein product			"""zinc finger protein 651"""	ZNF651		10574461	Standard	NM_145166		Approved	KIAA1190, DKFZp434N0615	uc003clu.2	Q9UFB7	OTTHUMG00000156207	ENST00000232974.6:c.1045G>T	3.37:g.42700892G>T	ENSP00000232974:p.Glu349*		H7BXD3|Q6ZSY6|Q8WTY8|Q9ULN0	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E349*	ENST00000232974.6	37	c.1045	CCDS46805.2	3	.	.	.	.	.	.	.	.	.	.	g	21.6	4.171570	0.78452	.	.	ENSG00000114853	ENST00000232974	.	.	.	3.04	2.16	0.27623	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	6.0839	0.19956	0.1476:0.0:0.8524:0.0	.	.	.	.	X	349	.	ENSP00000232974:E349X	E	+	1	0	ZBTB47	42675896	0.710000	0.27896	0.708000	0.30435	0.202000	0.24057	1.496000	0.35638	0.499000	0.27970	-0.372000	0.07161	GAG	ZBTB47	-	NULL		0.662	ZBTB47-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB47	HGNC	protein_coding	OTTHUMT00000343485.3	G	NM_145166		42700892	+1	no_errors	ENST00000232974	ensembl	human	known	70_37	nonsense	SNP	0.991	T
ZNF182	7569	genome.wustl.edu	37	X	47836511	47836511	+	Missense_Mutation	SNP	T	T	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:47836511T>A	ENST00000396965.1	-	7	1325	c.975A>T	c.(973-975)aaA>aaT	p.K325N	ZNF182_ENST00000376943.3_Missense_Mutation_p.K306N|ZNF182_ENST00000305127.6_Missense_Mutation_p.K325N	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	325					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GAGTGAAGGCTTTTCCACATT	0.403																																																	0													94.0	88.0	90.0					X																	47836511		2203	4300	6503	SO:0001583	missense	7569			AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.975A>T	X.37:g.47836511T>A	ENSP00000380165:p.Lys325Asn		A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K325N	ENST00000396965.1	37	c.975	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937443	0.52972	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.27890	1.64;1.64;1.64	4.72	2.37	0.29283	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.49184	0.1542	M	0.76002	2.32	0.32862	D	0.50806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.997;0.999	T	0.57808	-0.7747	9	0.66056	D	0.02	.	5.0638	0.14572	0.0:0.3415:0.0:0.6585	.	305;306;325	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	N	306;325;325	ENSP00000366142:K306N;ENSP00000380165:K325N;ENSP00000306351:K325N	ENSP00000306351:K325N	K	-	3	2	ZNF182	47721455	0.266000	0.24112	1.000000	0.80357	0.995000	0.86356	0.600000	0.24104	0.748000	0.32831	0.441000	0.28932	AAA	ZNF182	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	HGNC	protein_coding	OTTHUMT00000277055.1	T	NM_006962		47836511	-1	no_errors	ENST00000305127	ensembl	human	known	70_37	missense	SNP	0.998	A
ZNF326	284695	genome.wustl.edu	37	1	90482950	90482950	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr1:90482950C>G	ENST00000340281.4	+	8	1144	c.1001C>G	c.(1000-1002)tCt>tGt	p.S334C	ZNF326_ENST00000455342.2_Missense_Mutation_p.S128C|ZNF326_ENST00000370447.3_Missense_Mutation_p.S245C	NM_182976.2	NP_892021.1	Q5BKZ1	ZN326_HUMAN	zinc finger protein 326	334					mRNA processing (GO:0006397)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of DNA-templated transcription, elongation (GO:0032784)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	DBIRD complex (GO:0044609)|nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTGGAAAGTTCTTCACATCAG	0.299																																																	0													63.0	64.0	64.0					1																	90482950		2201	4293	6494	SO:0001583	missense	284695			BC013102	CCDS727.1, CCDS728.1	1p22	2012-04-19			ENSG00000162664	ENSG00000162664		"""Zinc fingers, C2H2-type"""	14104	protein-coding gene	gene with protein product	"""ZNF-protein interacting with nuclear mRNPs and DBC1"""	614601				22446626	Standard	NM_182976		Approved	Zfp326, ZAN75, FLJ20403, ZIRD	uc001dnq.2	Q5BKZ1	OTTHUMG00000010675	ENST00000340281.4:c.1001C>G	1.37:g.90482950C>G	ENSP00000340796:p.Ser334Cys		A8MYX1|B4DLN0|B4E179|Q5VW93|Q5VW94|Q5VW96|Q5VW97|Q6NSA2|Q7Z638|Q7Z6C2	Missense_Mutation	SNP	pfam_AKAP95	p.S334C	ENST00000340281.4	37	c.1001	CCDS727.1	1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.290861	0.80914	.	.	ENSG00000162664	ENST00000394590;ENST00000340281;ENST00000370447;ENST00000455342	T;T;T	0.47528	0.84;0.84;0.84	5.48	5.48	0.80851	Zinc finger, C2H2-like (1);	0.457223	0.23045	N	0.052570	T	0.31670	0.0804	N	0.08118	0	0.36243	D	0.853415	P;P	0.49783	0.928;0.928	P;P	0.50791	0.65;0.526	T	0.45411	-0.9263	10	0.72032	D	0.01	-1.1937	19.3839	0.94548	0.0:1.0:0.0:0.0	.	334;334	A8MYX1;Q5BKZ1	.;ZN326_HUMAN	C	334;334;245;128	ENSP00000340796:S334C;ENSP00000359476:S245C;ENSP00000403470:S128C	ENSP00000340796:S334C	S	+	2	0	ZNF326	90255538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.180000	0.71981	2.578000	0.87016	0.650000	0.86243	TCT	ZNF326	-	pfam_AKAP95		0.299	ZNF326-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF326	HGNC	protein_coding	OTTHUMT00000029428.2	C	NM_181781		90482950	+1	no_errors	ENST00000340281	ensembl	human	known	70_37	missense	SNP	0.999	G
ZNF507	22847	genome.wustl.edu	37	19	32845666	32845666	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:32845666C>T	ENST00000311921.4	+	2	2122	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	ZNF507_ENST00000544431.1_Missense_Mutation_p.R644C|ZNF507_ENST00000355898.5_Missense_Mutation_p.R644C	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	644					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CTACCGTTGCCGCCTGTGTCA	0.522																																																	0													147.0	115.0	126.0					19																	32845666		2203	4300	6503	SO:0001583	missense	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.1930C>T	19.37:g.32845666C>T	ENSP00000312277:p.Arg644Cys		A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R644C	ENST00000311921.4	37	c.1930	CCDS32985.1	19	.	.	.	.	.	.	.	.	.	.	C	14.56	2.571200	0.45798	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	T;T;T	0.15603	2.41;2.41;2.41	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	M	0.66939	2.045	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	T	0.27673	-1.0067	10	0.59425	D	0.04	.	19.0667	0.93114	0.0:1.0:0.0:0.0	.	644;644	Q8TCN5;Q8TCN5-2	ZN507_HUMAN;.	C	644	ENSP00000348162:R644C;ENSP00000312277:R644C;ENSP00000441549:R644C	ENSP00000312277:R644C	R	+	1	0	ZNF507	37537506	1.000000	0.71417	1.000000	0.80357	0.357000	0.29423	4.446000	0.60014	2.494000	0.84150	0.491000	0.48974	CGC	ZNF507	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF507	HGNC	protein_coding	OTTHUMT00000450301.3	C	NM_014910		32845666	+1	no_errors	ENST00000311921	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF45	7596	genome.wustl.edu	37	19	44418462	44418462	+	Nonsense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:44418462G>A	ENST00000269973.5	-	10	2216	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.Q376*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	376					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGATGGGCCTGAAGGTGTGAA	0.483																																																	0													76.0	75.0	75.0					19																	44418462		2203	4300	6503	SO:0001587	stop_gained	7596			M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1126C>T	19.37:g.44418462G>A	ENSP00000269973:p.Gln376*		P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q376*	ENST00000269973.5	37	c.1126	CCDS12632.1	19	.	.	.	.	.	.	.	.	.	.	G	45	11.821504	0.99607	.	.	ENSG00000124459	ENST00000269973;ENST00000328762	.	.	.	3.53	2.37	0.29283	.	0.000000	0.34314	N	0.004066	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-15.7108	8.3455	0.32270	0.0:0.0:0.5735:0.4265	.	.	.	.	X	376	.	ENSP00000269973:Q376X	Q	-	1	0	ZNF45	49110302	0.000000	0.05858	0.993000	0.49108	0.975000	0.68041	0.000000	0.12993	1.977000	0.57605	0.462000	0.41574	CAG	ZNF45	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.483	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF45	HGNC	protein_coding	OTTHUMT00000459919.1	G	NM_003425		44418462	-1	no_errors	ENST00000269973	ensembl	human	known	70_37	nonsense	SNP	0.100	A
ZNF626	199777	genome.wustl.edu	37	19	20829110	20829110	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:20829110C>G	ENST00000601440.1	-	2	251	c.105G>C	c.(103-105)gaG>gaC	p.E35D	CTC-513N18.7_ENST00000595094.1_lincRNA|ZNF626_ENST00000291750.6_Missense_Mutation_p.E35D	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	35	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TACTGTAGTTCTCTAACATCA	0.358																																																	0													105.0	108.0	107.0					19																	20829110		2203	4300	6503	SO:0001583	missense	199777			BC007116	CCDS32976.1, CCDS42535.1	19p13.11	2013-01-08				ENSG00000188171		"""Zinc fingers, C2H2-type"", ""-"""	30461	protein-coding gene	gene with protein product						12477932	Standard	NM_145297		Approved		uc002npb.1	Q68DY1		ENST00000601440.1:c.105G>C	19.37:g.20829110C>G	ENSP00000469958:p.Glu35Asp		Q8N8T4|Q96QM1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E35D	ENST00000601440.1	37	c.105	CCDS42535.1	19	.	.	.	.	.	.	.	.	.	.	N	11.30	1.599077	0.28534	.	.	ENSG00000188171	ENST00000392298;ENST00000305570;ENST00000291750	T	0.03920	3.76	1.02	-0.47	0.12131	Krueppel-associated box (4);	.	.	.	.	T	0.14657	0.0354	M	0.87547	2.89	0.23677	N	0.997132	P;P	0.50710	0.938;0.538	P;P	0.55965	0.788;0.533	T	0.08554	-1.0716	9	0.66056	D	0.02	.	3.682	0.08313	0.0:0.6928:0.0:0.3072	.	35;35	Q96QM1;Q68DY1	.;ZN626_HUMAN	D	35	ENSP00000291750:E35D	ENSP00000291750:E35D	E	-	3	2	ZNF626	20620950	0.992000	0.36948	0.060000	0.19600	0.056000	0.15407	0.471000	0.22100	-0.496000	0.06650	-0.497000	0.04613	GAG	ZNF626	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.358	ZNF626-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF626	HGNC	protein_coding	OTTHUMT00000447845.2	C	NM_145297		20829110	-1	no_errors	ENST00000601440	ensembl	human	known	70_37	missense	SNP	0.887	G
ZNF677	342926	genome.wustl.edu	37	19	53740238	53740238	+	Nonsense_Mutation	SNP	G	G	C	rs202144081		TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:53740238G>C	ENST00000598513.1	-	5	1892	c.1742C>G	c.(1741-1743)tCa>tGa	p.S581*	ZNF677_ENST00000333952.4_Nonsense_Mutation_p.S581*	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	581					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		GGTACAGCTTGAATACTTAAT	0.328																																																	0													72.0	63.0	66.0					19																	53740238		2203	4299	6502	SO:0001587	stop_gained	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.1742C>G	19.37:g.53740238G>C	ENSP00000469391:p.Ser581*			Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S581*	ENST00000598513.1	37	c.1742	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	20.3	3.960884	0.74016	.	.	ENSG00000197928	ENST00000333952	.	.	.	2.44	-3.02	0.05446	.	.	.	.	.	.	.	.	.	.	.	0.18873	A	1.27947e-05	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	1.1203	0.01723	0.2498:0.1673:0.4129:0.17	.	.	.	.	X	581	.	ENSP00000334394:S581X	S	-	2	0	ZNF677	58432050	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	-1.834000	0.01693	-0.597000	0.05813	-0.882000	0.02950	TCA	ZNF677	-	NULL		0.328	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	G	NM_182609		53740238	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	nonsense	SNP	0.000	C
ZNF543	125919	genome.wustl.edu	37	19	57839243	57839243	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:57839243G>A	ENST00000321545.4	+	4	758	c.413G>A	c.(412-414)gGg>gAg	p.G138E		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	138					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.G138V(1)		breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TTGAAAATAGGGATAGGCCCC	0.473																																																	1	Substitution - Missense(1)	lung(1)											53.0	59.0	57.0					19																	57839243		2203	4300	6503	SO:0001583	missense	125919			AL834534	CCDS33130.1	19q13.43	2013-01-08				ENSG00000178229		"""Zinc fingers, C2H2-type"", ""-"""	25281	protein-coding gene	gene with protein product							Standard	NM_213598		Approved	DKFZp434H055	uc002qoi.2	Q08ER8		ENST00000321545.4:c.413G>A	19.37:g.57839243G>A	ENSP00000322545:p.Gly138Glu		Q495U9|Q495V0|Q6ZMP4|Q8NCX4	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G138E	ENST00000321545.4	37	c.413	CCDS33130.1	19	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.674700	0.00758	.	.	ENSG00000178229	ENST00000321545	T	0.27104	1.69	2.87	-0.635	0.11512	.	.	.	.	.	T	0.14442	0.0349	N	0.22421	0.69	0.09310	N	1	B	0.15141	0.012	B	0.11329	0.006	T	0.29640	-1.0005	9	0.29301	T	0.29	.	6.4961	0.22144	0.3713:0.0:0.6287:0.0	.	138	Q08ER8	ZN543_HUMAN	E	138	ENSP00000322545:G138E	ENSP00000322545:G138E	G	+	2	0	ZNF543	62531055	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.308000	0.08156	-0.164000	0.10927	-0.266000	0.10368	GGG	ZNF543	-	NULL		0.473	ZNF543-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF543	HGNC	protein_coding	OTTHUMT00000465780.1	G	XM_064865		57839243	+1	no_errors	ENST00000321545	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF680	340252	genome.wustl.edu	37	7	64023445	64023445	+	5'UTR	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:64023445G>C	ENST00000309683.6	-	0	39				ZNF680_ENST00000447137.2_5'Flank|ZNF680_ENST00000476563.1_5'Flank	NM_178558.4	NP_848653.2	Q8NEM1	ZN680_HUMAN	zinc finger protein 680						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GCAGCAGCTAGAGACAAAGGC	0.582																																																	0																																										SO:0001623	5_prime_UTR_variant	340252			AK074911	CCDS34644.1, CCDS47594.1	7q11.21	2013-01-08			ENSG00000173041	ENSG00000173041		"""Zinc fingers, C2H2-type"", ""-"""	26897	protein-coding gene	gene with protein product	"""hypothetical protein FLJ90430"""					12477932	Standard	NM_178558		Approved	FLJ90430	uc003tta.2	Q8NEM1	OTTHUMG00000156542	ENST00000309683.6:c.-113C>G	7.37:g.64023445G>C			B3KVJ4|Q6ZNF3|Q8NC79	RNA	SNP	-	NULL	ENST00000309683.6	37	NULL	CCDS34644.1	7																																																																																			ZNF680	-	-		0.582	ZNF680-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF680	HGNC	protein_coding	OTTHUMT00000344568.1	G	NM_178558		64023445	-1	no_errors	ENST00000473601	ensembl	human	known	70_37	rna	SNP	0.206	C
ZNF711	7552	genome.wustl.edu	37	X	84520160	84520160	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chrX:84520160G>A	ENST00000373165.3	+	6	1121	c.815G>A	c.(814-816)aGt>aAt	p.S272N	ZNF711_ENST00000360700.4_Missense_Mutation_p.S272N|ZNF711_ENST00000395402.1_Missense_Mutation_p.S250N|ZNF711_ENST00000542798.1_Missense_Mutation_p.S68N|ZNF711_ENST00000276123.3_Missense_Mutation_p.S272N	NM_021998.4	NP_068838.3	Q9Y462	ZN711_HUMAN	zinc finger protein 711	272					positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GAGTACACCAGTGGACATTCA	0.388																																																	0													83.0	77.0	79.0					X																	84520160		2203	4300	6503	SO:0001583	missense	7552			BC006349	CCDS35344.1	Xq21.1	2014-02-19	2006-06-29	2006-06-29	ENSG00000147180	ENSG00000147180		"""Zinc fingers, C2H2-type"""	13128	protein-coding gene	gene with protein product		314990	"""zinc finger protein 6 (CMPX1)"", ""zinc finger protein 6"""	ZNF6		19377476	Standard	XM_005262186		Approved	CMPX1, ZNF4, ZNF5, dJ75N13.1, Zfp711, MRX97	uc004eeo.3	Q9Y462	OTTHUMG00000021933	ENST00000373165.3:c.815G>A	X.37:g.84520160G>A	ENSP00000362260:p.Ser272Asn		B4DSV4|Q6NX42|Q9Y4J6	Missense_Mutation	SNP	pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S250N	ENST00000373165.3	37	c.749	CCDS35344.1	X	.	.	.	.	.	.	.	.	.	.	G	2.395	-0.338873	0.05243	.	.	ENSG00000147180	ENST00000395402;ENST00000373165;ENST00000276123;ENST00000360700;ENST00000542798	T;T;T;T;T	0.38887	1.11;1.11;1.11;1.11;1.11	5.12	1.48	0.22813	Transcriptional activator, Zfx / Zfy domain (1);	0.168579	0.27486	N	0.019147	T	0.10895	0.0266	N	0.00793	-1.18	0.25064	N	0.99104	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.37798	-0.9690	10	0.02654	T	1	-2.5003	8.4289	0.32746	0.8454:0.0:0.1546:0.0	.	272;272	Q9Y462-3;Q9Y462	.;ZN711_HUMAN	N	250;272;272;272;68	ENSP00000378798:S250N;ENSP00000362260:S272N;ENSP00000276123:S272N;ENSP00000353922:S272N;ENSP00000442071:S68N	ENSP00000276123:S272N	S	+	2	0	ZNF711	84406816	1.000000	0.71417	0.989000	0.46669	0.842000	0.47809	2.365000	0.44196	0.267000	0.21916	0.506000	0.49869	AGT	ZNF711	-	pfam_Transcrp_activ_Zfx/Zfy-dom		0.388	ZNF711-001	KNOWN	basic|CCDS	protein_coding	ZNF711	HGNC	protein_coding	OTTHUMT00000057388.2	G	NM_021998		84520160	+1	no_errors	ENST00000395402	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF791	163049	genome.wustl.edu	37	19	12738878	12738878	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:12738878G>A	ENST00000343325.4	+	4	697	c.535G>A	c.(535-537)Gag>Aag	p.E179K	ZNF791_ENST00000446165.1_3'UTR|AC010422.1_ENST00000408416.1_RNA|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.E70K|ZNF791_ENST00000458122.3_Missense_Mutation_p.E147K	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	179					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)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TCAAAGACATGAGCGGACTCA	0.398																																																	0													58.0	59.0	58.0					19																	12738878		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.535G>A	19.37:g.12738878G>A	ENSP00000342974:p.Glu179Lys		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E179K	ENST00000343325.4	37	c.535	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351520	0.24512	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07327	3.2;3.2;3.2	1.83	0.49	0.16861	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03305	0.0096	N	0.03050	-0.425	0.31986	N	0.605293	B	0.14805	0.011	B	0.18871	0.023	T	0.25502	-1.0130	9	0.37606	T	0.19	.	6.6059	0.22726	0.0:0.5107:0.4893:0.0	.	179	Q3KP31	ZN791_HUMAN	K	179;161;147;70	ENSP00000342974:E179K;ENSP00000441761:E147K;ENSP00000441038:E70K	ENSP00000342974:E179K	E	+	1	0	ZNF791	12599878	0.000000	0.05858	0.765000	0.31456	0.867000	0.49689	0.007000	0.13174	1.007000	0.39238	0.491000	0.48974	GAG	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.398	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	G	NM_153358		12738878	+1	no_errors	ENST00000343325	ensembl	human	known	70_37	missense	SNP	0.980	A
ZNF790	388536	genome.wustl.edu	37	19	37310175	37310175	+	Missense_Mutation	SNP	C	C	G			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:37310175C>G	ENST00000356725.4	-	5	1191	c.1071G>C	c.(1069-1071)caG>caC	p.Q357H	CTD-2162K18.5_ENST00000588906.1_RNA|CTD-2162K18.5_ENST00000587278.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			TATGAATTCTCTGATGCTGAG	0.378																																																	0													70.0	69.0	69.0					19																	37310175		2203	4300	6503	SO:0001583	missense	388536			BC057245	CCDS12496.1	19q13.12	2013-01-08			ENSG00000197863	ENSG00000197863		"""Zinc fingers, C2H2-type"", ""-"""	33114	protein-coding gene	gene with protein product							Standard	NM_206894		Approved	MGC62100, FLJ20350	uc021utm.1	Q6PG37	OTTHUMG00000165616	ENST00000356725.4:c.1071G>C	19.37:g.37310175C>G	ENSP00000349161:p.Gln357His			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q357H	ENST00000356725.4	37	c.1071	CCDS12496.1	19	.	.	.	.	.	.	.	.	.	.	C	11.86	1.765997	0.31228	.	.	ENSG00000197863	ENST00000356725	T	0.18502	2.21	3.14	0.853	0.19001	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.22666	0.0547	L	0.35854	1.095	0.29790	N	0.8333	P	0.50819	0.939	P	0.61722	0.893	T	0.13308	-1.0514	9	0.44086	T	0.13	.	4.6767	0.12715	0.0:0.5925:0.1855:0.222	.	357	Q6PG37	ZN790_HUMAN	H	357	ENSP00000349161:Q357H	ENSP00000349161:Q357H	Q	-	3	2	ZNF790	42002015	0.000000	0.05858	0.988000	0.46212	0.838000	0.47535	-0.120000	0.10660	0.153000	0.19213	-0.339000	0.08088	CAG	ZNF790	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF790-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF790	HGNC	protein_coding	OTTHUMT00000385341.2	C	NM_206894		37310175	-1	no_errors	ENST00000356725	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF804B	219578	genome.wustl.edu	37	7	88962994	88962994	+	Missense_Mutation	SNP	C	C	T			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr7:88962994C>T	ENST00000333190.4	+	4	1307	c.698C>T	c.(697-699)tCt>tTt	p.S233F		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	233							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAATTAGAATCTTCAGCATCA	0.368										HNSCC(36;0.09)																																							0													66.0	64.0	65.0					7																	88962994		2202	4300	6502	SO:0001583	missense	219578			AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.698C>T	7.37:g.88962994C>T	ENSP00000329638:p.Ser233Phe		B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	pfam_Znf_C2H2_jaz	p.S233F	ENST00000333190.4	37	c.698	CCDS5613.1	7	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112112	0.77210	.	.	ENSG00000182348	ENST00000333190	T	0.20069	2.1	5.04	5.04	0.67666	.	0.000000	0.56097	D	0.000029	T	0.48978	0.1530	M	0.76170	2.325	0.58432	D	0.999995	D	0.89917	1.0	D	0.79108	0.992	T	0.51687	-0.8674	10	0.87932	D	0	-15.2995	18.5918	0.91215	0.0:1.0:0.0:0.0	.	233	A4D1E1	Z804B_HUMAN	F	233	ENSP00000329638:S233F	ENSP00000329638:S233F	S	+	2	0	ZNF804B	88800930	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.834000	0.75339	2.630000	0.89119	0.655000	0.94253	TCT	ZNF804B	-	NULL		0.368	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF804B	HGNC	protein_coding	OTTHUMT00000253683.2	C	NM_181646		88962994	+1	no_errors	ENST00000333190	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF85	7639	genome.wustl.edu	37	19	21131718	21131718	+	Missense_Mutation	SNP	G	G	A			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr19:21131718G>A	ENST00000328178.8	+	4	511	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF85_ENST00000345030.6_Missense_Mutation_p.G100E|ZNF85_ENST00000601023.1_Missense_Mutation_p.G74E|ZNF85_ENST00000597314.1_3'UTR	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	133					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						GGTTGTAATGGACTTAACCAA	0.328																																																	0													67.0	69.0	68.0					19																	21131718		2203	4300	6503	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.398G>A	19.37:g.21131718G>A	ENSP00000329793:p.Gly133Glu		B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G133E	ENST00000328178.8	37	c.398	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	0.004	-2.342764	0.00222	.	.	ENSG00000105750	ENST00000328178;ENST00000345030;ENST00000421385	T;T	0.05382	3.6;3.45	1.23	-0.992	0.10232	.	.	.	.	.	T	0.02727	0.0082	N	0.13098	0.295	0.09310	N	1	B;B;B	0.30793	0.02;0.295;0.025	B;B;B	0.24701	0.05;0.055;0.024	T	0.47328	-0.9126	9	0.12766	T	0.61	.	4.3924	0.11346	0.6818:0.0:0.3182:0.0	.	100;74;133	Q03923-2;Q49A12;Q03923	.;.;ZNF85_HUMAN	E	133;100;8	ENSP00000329793:G133E;ENSP00000342340:G100E	ENSP00000329793:G133E	G	+	2	0	ZNF85	20923558	0.000000	0.05858	0.001000	0.08648	0.008000	0.06430	-0.068000	0.11561	-0.179000	0.10654	0.455000	0.32223	GGA	ZNF85	-	NULL		0.328	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	G	NM_003429		21131718	+1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.000	A
ZWILCH	55055	genome.wustl.edu	37	15	66816043	66816043	+	Missense_Mutation	SNP	G	G	C			TCGA-Q1-A73P-01A-11D-A32I-09	TCGA-Q1-A73P-10B-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	dd9fd43b-adc3-44ee-a69a-f5d3215af715	53421a70-b8ac-4854-80bd-9cb42930b9fc	g.chr15:66816043G>C	ENST00000307897.5	+	8	1156	c.776G>C	c.(775-777)aGa>aCa	p.R259T	RPL4_ENST00000564517.1_5'Flank|ZWILCH_ENST00000446801.2_Missense_Mutation_p.R145T|RPL4_ENST00000568588.1_Intron|ZWILCH_ENST00000565627.1_Missense_Mutation_p.R145T|ZWILCH_ENST00000535141.2_Missense_Mutation_p.R145T	NM_017975.3	NP_060445.3	Q9H900	ZWILC_HUMAN	zwilch kinetochore protein	259					mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)	cytosol (GO:0005829)|kinetochore (GO:0000776)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						GGAGAGCCCAGAGGTCCTTTG	0.348																																																	0													135.0	149.0	144.0					15																	66816043		2201	4299	6500	SO:0001583	missense	55055			AK023175	CCDS10219.1, CCDS73746.1	15q22.31	2013-01-17	2012-12-13		ENSG00000174442	ENSG00000174442			25468	protein-coding gene	gene with protein product		609984	"""Zwilch, kinetochore associated, homolog (Drosophila)"""			12686595	Standard	NM_017975		Approved	FLJ10036, KNTC1AP	uc002aqb.3	Q9H900	OTTHUMG00000133194	ENST00000307897.5:c.776G>C	15.37:g.66816043G>C	ENSP00000311429:p.Arg259Thr		B3KVB8|Q6N049|Q8N404|Q96SY7|Q9NWG7	Missense_Mutation	SNP	pfam_RZZ-complex_zwilch	p.R259T	ENST00000307897.5	37	c.776	CCDS10219.1	15	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187075	0.57909	.	.	ENSG00000174442	ENST00000307897;ENST00000446801;ENST00000535141	T;T;T	0.51817	0.69;0.69;0.69	5.4	4.49	0.54785	.	0.046701	0.85682	D	0.000000	T	0.63570	0.2522	M	0.72894	2.215	0.47037	D	0.999295	D	0.89917	1.0	D	0.75484	0.986	T	0.65520	-0.6148	10	0.72032	D	0.01	-19.4001	8.0726	0.30697	0.0798:0.0:0.7629:0.1573	.	259	Q9H900	ZWILC_HUMAN	T	259;145;145	ENSP00000311429:R259T;ENSP00000402217:R145T;ENSP00000437749:R145T	ENSP00000311429:R259T	R	+	2	0	ZWILCH	64603097	1.000000	0.71417	0.997000	0.53966	0.510000	0.34073	6.147000	0.71783	1.265000	0.44215	0.585000	0.79938	AGA	ZWILCH	-	pfam_RZZ-complex_zwilch		0.348	ZWILCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZWILCH	HGNC	protein_coding	OTTHUMT00000256904.4	G	NM_017975		66816043	+1	no_errors	ENST00000307897	ensembl	human	known	70_37	missense	SNP	1.000	C
