#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ACSL1	2180	genome.wustl.edu	37	4	185683650	185683650	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:185683650G>A	ENST00000515030.1	-	17	1874	c.1549C>T	c.(1549-1551)Cag>Tag	p.Q517*	ACSL1_ENST00000437665.3_Nonsense_Mutation_p.Q346*|ACSL1_ENST00000281455.2_Nonsense_Mutation_p.Q517*|ACSL1_ENST00000504342.1_Nonsense_Mutation_p.Q517*|ACSL1_ENST00000513317.1_Nonsense_Mutation_p.Q517*|ACSL1_ENST00000454703.2_Nonsense_Mutation_p.Q346*|ACSL1_ENST00000507295.1_Nonsense_Mutation_p.Q483*			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	517					adiponectin-activated signaling pathway (GO:0033211)|alpha-linolenic acid metabolic process (GO:0036109)|cellular lipid metabolic process (GO:0044255)|linoleic acid metabolic process (GO:0043651)|lipid biosynthetic process (GO:0008610)|long-chain fatty acid import (GO:0044539)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|unsaturated fatty acid metabolic process (GO:0033559)|xenobiotic catabolic process (GO:0042178)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)	p.Q517*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AAGTAGCCCTGAAATACATTT	0.453																																																	1	Substitution - Nonsense(1)	cervix(1)											112.0	98.0	103.0					4																	185683650		2203	4300	6503	SO:0001587	stop_gained	2180			BC026290	CCDS3839.1, CCDS68825.1, CCDS68826.1, CCDS75213.1	4q35.1	2014-08-08	2004-02-19	2004-02-20	ENSG00000151726	ENSG00000151726	6.2.1.3	"""Acyl-CoA synthetase family"""	3569	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", ""long-chain fatty-acid-coenzyme A ligase 1"""	152425	"""fatty-acid-Coenzyme A ligase, long-chain 2"""	FACL2		2341402, 1531127	Standard	XM_005262828		Approved	LACS2, LACS, ACS1, LACS1, FACL1	uc003iwu.1	P33121	OTTHUMG00000160547	ENST00000515030.1:c.1549C>T	4.37:g.185683650G>A	ENSP00000422607:p.Gln517*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z452|D3DP57|P41215|Q8N8V7|Q8TA99	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q517*	ENST00000515030.1	37	c.1549	CCDS3839.1	4	.	.	.	.	.	.	.	.	.	.	G	37	6.535744	0.97646	.	.	ENSG00000151726	ENST00000454703;ENST00000515030;ENST00000281455;ENST00000507295;ENST00000437665;ENST00000504342;ENST00000513317	.	.	.	5.64	-0.563	0.11778	.	0.625555	0.17708	N	0.164698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8316	18.0807	0.89440	0.0:0.0:0.3638:0.6362	.	.	.	.	X	346;517;517;483;346;517;517	.	ENSP00000281455:Q517X	Q	-	1	0	ACSL1	185920644	0.972000	0.33761	0.981000	0.43875	0.978000	0.69477	0.114000	0.15520	-0.030000	0.13804	0.655000	0.94253	CAG	ACSL1	-	pfam_AMP-dep_Synth/Lig		0.453	ACSL1-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ACSL1	HGNC	protein_coding	OTTHUMT00000361112.2	G	NM_001995		185683650	-1	no_errors	ENST00000281455	ensembl	human	known	70_37	nonsense	SNP	0.410	A
ACVR2A	92	genome.wustl.edu	37	2	148654036	148654036	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:148654036G>A	ENST00000241416.7	+	2	858	c.222G>A	c.(220-222)gtG>gtA	p.V74V	ACVR2A_ENST00000404590.1_Silent_p.V74V|ACVR2A_ENST00000535787.1_5'UTR|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	74					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway (GO:0030509)|cellular response to BMP stimulus (GO:0071773)|determination of left/right symmetry (GO:0007368)|embryonic skeletal system development (GO:0048706)|gastrulation with mouth forming second (GO:0001702)|mesoderm development (GO:0007498)|penile erection (GO:0043084)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of bone mineralization (GO:0030501)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein phosphorylation (GO:0001934)|regulation of BMP signaling pathway (GO:0030510)|regulation of nitric-oxide synthase activity (GO:0050999)|Sertoli cell proliferation (GO:0060011)|sperm ejaculation (GO:0042713)|spermatogenesis (GO:0007283)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|coreceptor activity (GO:0015026)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)	p.V74V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTGAAATAGTGAAACAAGGTT	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											155.0	150.0	152.0					2																	148654036		2203	4300	6503	SO:0001819	synonymous_variant	92				CCDS33301.1, CCDS63030.1	2q22.2-q23.3	2008-02-05	2005-05-10	2005-05-10	ENSG00000121989	ENSG00000121989			173	protein-coding gene	gene with protein product		102581	"""activin A receptor, type II"""	ACVR2		1314589, 10702675	Standard	NM_001278579		Approved	ACTRII	uc002twh.3	P27037	OTTHUMG00000150603	ENST00000241416.7:c.222G>A	2.37:g.148654036G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAB8|B4DWQ2|D3DP85|Q53TH4|Q6NWV2|Q92474	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt	p.V74	ENST00000241416.7	37	c.222	CCDS33301.1	2																																																																																			ACVR2A	-	pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt		0.378	ACVR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR2A	HGNC	protein_coding	OTTHUMT00000319051.1	G	NM_001616		148654036	+1	no_errors	ENST00000241416	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAMTS17	170691	genome.wustl.edu	37	15	100695466	100695466	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:100695466G>C	ENST00000268070.4	-	9	1346	c.1241C>G	c.(1240-1242)tCa>tGa	p.S414*		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	414	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.S414*(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CCACTCTCCTGACATGATGTG	0.527																																																	1	Substitution - Nonsense(1)	cervix(1)											90.0	80.0	83.0					15																	100695466		2203	4300	6503	SO:0001587	stop_gained	170691			AJ315735	CCDS10383.1	15q24	2014-01-28	2005-08-19		ENSG00000140470	ENSG00000140470		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17109	protein-coding gene	gene with protein product		607511	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 17"""			11867212	Standard	NM_139057		Approved	FLJ32769, FLJ16363	uc002bvv.1	Q8TE56	OTTHUMG00000149867	ENST00000268070.4:c.1241C>G	15.37:g.100695466G>C	ENSP00000268070:p.Ser414*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2I7G4|Q6ZN75	Nonsense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.S414*	ENST00000268070.4	37	c.1241	CCDS10383.1	15	.	.	.	.	.	.	.	.	.	.	G	40	7.987164	0.98596	.	.	ENSG00000140470	ENST00000268070;ENST00000378898	.	.	.	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.1285	0.93396	0.0:0.0:1.0:0.0	.	.	.	.	X	414;171	.	ENSP00000268070:S414X	S	-	2	0	ADAMTS17	98512989	1.000000	0.71417	0.952000	0.39060	0.952000	0.60782	8.849000	0.92178	2.489000	0.83994	0.655000	0.94253	TCA	ADAMTS17	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.527	ADAMTS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS17	HGNC	protein_coding	OTTHUMT00000313595.1	G	NM_139057		100695466	-1	no_errors	ENST00000268070	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ADAMTS3	9508	genome.wustl.edu	37	4	73156718	73156718	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:73156718G>A	ENST00000286657.4	-	20	2821	c.2785C>T	c.(2785-2787)Cgc>Tgc	p.R929C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	929	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)|positive regulation of vascular endothelial growth factor signaling pathway (GO:1900748)|protein processing (GO:0016485)|vascular endothelial growth factor production (GO:0010573)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R929C(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CGTACAGTGCGAAGCTGATAG	0.542																																					NSCLC(168;1941 2048 2918 13048 43078)												1	Substitution - Missense(1)	cervix(1)											166.0	136.0	146.0					4																	73156718		2203	4300	6503	SO:0001583	missense	9508			AB002364	CCDS3553.1	4q21	2008-07-29	2005-08-19		ENSG00000156140	ENSG00000156140	3.4.24.-	"""ADAM metallopeptidases with thrombospondin type 1 motif"""	219	protein-coding gene	gene with protein product		605011	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 3"""			10094461	Standard	NM_014243		Approved	KIAA0366, ADAMTS-4	uc003hgk.2	O15072	OTTHUMG00000129912	ENST00000286657.4:c.2785C>T	4.37:g.73156718G>A	ENSP00000286657:p.Arg929Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U9|Q9BXZ8	Missense_Mutation	SNP	pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R929C	ENST00000286657.4	37	c.2785	CCDS3553.1	4	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941481	0.53079	.	.	ENSG00000156140	ENST00000286657	T	0.80909	-1.43	5.42	4.56	0.56223	.	0.000000	0.85682	D	0.000000	D	0.94892	0.8349	H	0.99881	4.885	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	D	0.97462	1.0035	10	0.87932	D	0	.	16.0938	0.81109	0.0:0.1343:0.8656:0.0	.	929	O15072	ATS3_HUMAN	C	929	ENSP00000286657:R929C	ENSP00000286657:R929C	R	-	1	0	ADAMTS3	73375582	1.000000	0.71417	0.284000	0.24805	0.135000	0.20990	6.589000	0.74080	1.253000	0.44018	0.557000	0.71058	CGC	ADAMTS3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.542	ADAMTS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS3	HGNC	protein_coding	OTTHUMT00000252164.2	G			73156718	-1	no_errors	ENST00000286657	ensembl	human	known	70_37	missense	SNP	0.998	A
ADAMTSL5	339366	genome.wustl.edu	37	19	1510233	1510233	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:1510233A>G	ENST00000413997.2	-	5	306	c.307T>C	c.(307-309)Ttc>Ctc	p.F103L	ADAMTSL5_ENST00000395467.2_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.F93L			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	103						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.F93L(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		AGGTCTCGGAAGGGCACAGCC	0.637																																																	1	Substitution - Missense(1)	cervix(1)											39.0	39.0	39.0					19																	1510233		2202	4300	6502	SO:0001583	missense	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.307T>C	19.37:g.1510233A>G	ENSP00000399364:p.Phe103Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXK7|Q8IW95	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Netrin_module_non-TIMP,pfam_Thrombospondin_1_rpt,superfamily_TIMP-like_OB-fold,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.F103L	ENST00000413997.2	37	c.307		19	.	.	.	.	.	.	.	.	.	.	A	28.3	4.909791	0.92107	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.05447	3.44;3.44	4.6	4.6	0.57074	.	0.000000	0.85682	D	0.000000	T	0.29288	0.0729	M	0.91663	3.23	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68353	0.957;0.957	T	0.17107	-1.0380	10	0.87932	D	0	.	11.3547	0.49609	1.0:0.0:0.0:0.0	.	103;93	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	L	103;93	ENSP00000399364:F103L;ENSP00000327608:F93L	ENSP00000327608:F93L	F	-	1	0	ADAMTSL5	1461233	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	4.984000	0.63838	1.691000	0.51100	0.374000	0.22700	TTC	ADAMTSL5	-	NULL		0.637	ADAMTSL5-202	KNOWN	basic	protein_coding	ADAMTSL5	HGNC	protein_coding		A	XM_294919		1510233	-1	no_errors	ENST00000413997	ensembl	human	known	70_37	missense	SNP	1.000	G
AKAP4	8852	genome.wustl.edu	37	X	49958365	49958365	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:49958365G>A	ENST00000376056.2	-	5	1122	c.972C>T	c.(970-972)ctC>ctT	p.L324L	AKAP4_ENST00000376064.3_Silent_p.L324L|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.L333L					A kinase (PRKA) anchor protein 4									p.L333L(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATAAACCATGAGCCCCTTGC	0.458																																																	2	Substitution - coding silent(2)	cervix(1)|breast(1)											55.0	48.0	50.0					X																	49958365		2203	4300	6503	SO:0001819	synonymous_variant	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.972C>T	X.37:g.49958365G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.L333	ENST00000376056.2	37	c.999	CCDS14330.1	X																																																																																			AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.458	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	G	NM_003886		49958365	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	silent	SNP	0.470	A
AKNAD1	254268	genome.wustl.edu	37	1	109366000	109366000	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:109366000G>C	ENST00000370001.3	-	13	2427	c.2159C>G	c.(2158-2160)tCt>tGt	p.S720C	AKNAD1_ENST00000369994.1_Missense_Mutation_p.S690C|AKNAD1_ENST00000357393.4_Missense_Mutation_p.S427C|AKNAD1_ENST00000369995.3_Missense_Mutation_p.S720C|AKNAD1_ENST00000477908.1_5'Flank	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	720						cytoplasm (GO:0005737)		p.S720C(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ACAGGGTGAAGAGTTTTTACT	0.423																																																	1	Substitution - Missense(1)	cervix(1)											146.0	141.0	142.0					1																	109366000		2203	4300	6503	SO:0001583	missense	254268			AK095517	CCDS791.2	1p13.3	2009-10-29	2009-10-29	2009-10-29	ENSG00000162641	ENSG00000162641			28398	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 62"""	C1orf62			Standard	NM_152763		Approved	MGC26989	uc001dwa.4	Q5T1N1	OTTHUMG00000011231	ENST00000370001.3:c.2159C>G	1.37:g.109366000G>C	ENSP00000359018:p.Ser720Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK62|Q5T1N0|Q8N990|Q8NCN9	Missense_Mutation	SNP	pfam_TF_AT-hook	p.S720C	ENST00000370001.3	37	c.2159	CCDS791.2	1	.	.	.	.	.	.	.	.	.	.	G	15.37	2.814302	0.50527	.	.	ENSG00000162641	ENST00000370001;ENST00000357393;ENST00000369994;ENST00000369995	T;T;T;T	0.26957	1.7;1.7;1.7;1.7	4.9	4.9	0.64082	.	0.374053	0.19807	N	0.105623	T	0.27169	0.0666	L	0.34521	1.04	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.98;0.982	T	0.05517	-1.0880	10	0.87932	D	0	-1.6	13.4419	0.61119	0.0:0.0:1.0:0.0	.	427;720	B4DET8;Q5T1N1	.;AKND1_HUMAN	C	720;427;690;720	ENSP00000359018:S720C;ENSP00000349968:S427C;ENSP00000359011:S690C;ENSP00000359012:S720C	ENSP00000349968:S427C	S	-	2	0	AKNAD1	109167523	0.947000	0.32204	0.040000	0.18447	0.023000	0.10783	2.583000	0.46094	2.541000	0.85698	0.655000	0.94253	TCT	AKNAD1	-	NULL		0.423	AKNAD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKNAD1	HGNC	protein_coding	OTTHUMT00000030923.2	G	NM_152763		109366000	-1	no_errors	ENST00000370001	ensembl	human	known	70_37	missense	SNP	0.053	C
ALOX5	240	genome.wustl.edu	37	10	45878011	45878011	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:45878011G>A	ENST00000374391.2	+	2	284	c.231G>A	c.(229-231)ctG>ctA	p.L77L	ALOX5_ENST00000542434.1_Silent_p.L77L	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	77	PLAT. {ECO:0000255|PROSITE- ProRule:PRU00152}.				arachidonic acid metabolic process (GO:0019369)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|leukotriene production involved in inflammatory response (GO:0002540)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular space (GO:0005615)|nuclear envelope (GO:0005635)|nuclear envelope lumen (GO:0005641)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)	arachidonate 5-lipoxygenase activity (GO:0004051)|iron ion binding (GO:0005506)	p.L77L(1)		breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Aminosalicylic Acid(DB00233)|Balsalazide(DB01014)|Diclofenac(DB00586)|Diethylcarbamazine(DB00711)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Mesalazine(DB00244)|Minocycline(DB01017)|Montelukast(DB00471)|Sulfasalazine(DB00795)|Vitamin E(DB00163)|Zileuton(DB00744)	AGTACTGGCTGAATGACGACT	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											154.0	114.0	127.0					10																	45878011		2203	4300	6503	SO:0001819	synonymous_variant	240			J03571	CCDS7212.1, CCDS58078.1	10q11.2	2008-03-18			ENSG00000012779	ENSG00000012779	1.13.11.34	"""Arachidonate lipoxygenases"""	435	protein-coding gene	gene with protein product		152390				2565035	Standard	NM_001256153		Approved	5-LOX	uc001jce.4	P09917	OTTHUMG00000018081	ENST00000374391.2:c.231G>A	10.37:g.45878011G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLS0|E5FPY5|E5FPY7|E5FPY8|Q5JQ14	Silent	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.L77	ENST00000374391.2	37	c.231	CCDS7212.1	10																																																																																			ALOX5	-	pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml		0.567	ALOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX5	HGNC	protein_coding	OTTHUMT00000047780.1	G			45878011	+1	no_errors	ENST00000374391	ensembl	human	known	70_37	silent	SNP	0.093	A
ALPK2	115701	genome.wustl.edu	37	18	56203851	56203851	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:56203851C>T	ENST00000361673.3	-	5	3781	c.3568G>A	c.(3568-3570)Ggg>Agg	p.G1190R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1190						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.G1190R(1)|p.G551R(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						ACCCTCGTCCCCCAACCTGAG	0.557																																																	2	Substitution - Missense(2)	cervix(2)											92.0	85.0	87.0					18																	56203851		2203	4300	6503	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.3568G>A	18.37:g.56203851C>T	ENSP00000354991:p.Gly1190Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like	p.G1190R	ENST00000361673.3	37	c.3568	CCDS11966.2	18	.	.	.	.	.	.	.	.	.	.	C	13.52	2.262811	0.39995	.	.	ENSG00000198796	ENST00000361673	T	0.42900	0.96	5.39	3.59	0.41128	.	0.845194	0.10584	N	0.657521	T	0.31451	0.0797	N	0.22421	0.69	0.09310	N	1	P;B	0.44816	0.844;0.266	P;B	0.44772	0.46;0.077	T	0.07578	-1.0765	10	0.23891	T	0.37	-6.6849	7.4423	0.27190	0.0:0.7993:0.0:0.2007	.	1185;1190	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1190	ENSP00000354991:G1190R	ENSP00000354991:G1190R	G	-	1	0	ALPK2	54354831	0.000000	0.05858	0.009000	0.14445	0.008000	0.06430	0.278000	0.18753	0.640000	0.30582	0.609000	0.83330	GGG	ALPK2	-	NULL		0.557	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPK2	HGNC	protein_coding	OTTHUMT00000256126.1	C	NM_052947		56203851	-1	no_errors	ENST00000361673	ensembl	human	known	70_37	missense	SNP	0.002	T
AMHR2	269	genome.wustl.edu	37	12	53823280	53823280	+	Silent	SNP	G	G	A	rs377172469		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:53823280G>A	ENST00000257863.4	+	8	1091	c.1011G>A	c.(1009-1011)caG>caA	p.Q337Q	AMHR2_ENST00000550311.1_Silent_p.Q337Q|AMHR2_ENST00000379791.3_Silent_p.Q337Q	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	337	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				Mullerian duct regression (GO:0001880)|negative regulation of anti-Mullerian hormone signaling pathway (GO:1902613)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	integral component of plasma membrane (GO:0005887)	anti-Mullerian hormone receptor activity (GO:1990272)|ATP binding (GO:0005524)|hormone binding (GO:0042562)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta receptor activity, type II (GO:0005026)	p.Q337Q(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TGAGCAGCCAGAATGTGCTCA	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											102.0	95.0	97.0					12																	53823280		2203	4300	6503	SO:0001819	synonymous_variant	269			AF172932	CCDS8858.1, CCDS53798.1, CCDS55829.1	12q13	2013-03-14							465	protein-coding gene	gene with protein product	"""Muellerian inhibiting substance type II receptor"""	600956				7493017	Standard	NM_001164690		Approved	MISR2, MISRII	uc001scx.2	Q16671	OTTHUMG00000170048	ENST00000257863.4:c.1011G>A	12.37:g.53823280G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE1|B9EGB7|E9PGD2|F8W1D2|Q13762|Q647K2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom	p.Q337	ENST00000257863.4	37	c.1011	CCDS8858.1	12																																																																																			AMHR2	-	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_Anti-muellerian_hrmn_rcpt_II,pfscan_Prot_kinase_cat_dom		0.537	AMHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMHR2	HGNC	protein_coding	OTTHUMT00000407048.1	G	NM_020547		53823280	+1	no_errors	ENST00000257863	ensembl	human	known	70_37	silent	SNP	0.984	A
AOAH	313	genome.wustl.edu	37	7	36616224	36616224	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:36616224C>G	ENST00000258749.5	-	13	1376	c.977G>C	c.(976-978)aGa>aCa	p.R326T	AOAH_ENST00000431169.1_Missense_Mutation_p.R326T|AOAH_ENST00000538464.1_Missense_Mutation_p.R48T|AOAH_ENST00000535891.1_Missense_Mutation_p.R294T	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	326					inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)	p.R326T(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACAGTGGTTTCTTTTCCATAA	0.294																																																	1	Substitution - Missense(1)	cervix(1)											154.0	147.0	150.0					7																	36616224		2203	4300	6503	SO:0001583	missense	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.977G>C	7.37:g.36616224C>G	ENSP00000258749:p.Arg326Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB	p.R326T	ENST00000258749.5	37	c.977	CCDS5448.1	7	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674088	0.67928	.	.	ENSG00000136250	ENST00000538464;ENST00000535891;ENST00000258749;ENST00000431169;ENST00000544647	T;T;T;T	0.23147	1.92;1.92;1.92;1.92	4.9	4.9	0.64082	Esterase, SGNH hydrolase-type (1);Lipase, GDSL (1);	0.146441	0.47852	D	0.000204	T	0.50240	0.1604	.	.	.	0.41235	D	0.9866	D;D;D	0.89917	0.991;1.0;0.999	D;D;D	0.79784	0.991;0.993;0.966	T	0.52990	-0.8501	9	0.87932	D	0	.	13.793	0.63152	0.0:1.0:0.0:0.0	.	294;326;326	B7Z490;C9J8T1;P28039	.;.;AOAH_HUMAN	T	48;294;326;326;326	ENSP00000439283:R48T;ENSP00000441101:R294T;ENSP00000258749:R326T;ENSP00000405683:R326T	ENSP00000258749:R326T	R	-	2	0	AOAH	36582749	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	3.506000	0.53364	2.708000	0.92522	0.650000	0.86243	AGA	AOAH	-	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type		0.294	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36616224	-1	no_errors	ENST00000258749	ensembl	human	known	70_37	missense	SNP	1.000	G
ARAP1	116985	genome.wustl.edu	37	11	72404263	72404263	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:72404263G>A	ENST00000393609.3	-	29	4157				ARAP1_ENST00000393605.3_Intron|ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000495878.1_Intron|ARAP1_ENST00000359373.5_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000426523.1_Intron	NM_001040118.2	NP_001035207.1	Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						actin filament reorganization involved in cell cycle (GO:0030037)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of receptor recycling (GO:0001921)|regulation of ARF GTPase activity (GO:0032312)|regulation of cell shape (GO:0008360)|regulation of cellular component movement (GO:0051270)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Rho GTPase activator activity (GO:0005100)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						GTGCCATCCTGAGAGCCTGTA	0.602																																					Ovarian(102;1198 1520 13195 17913 37529)												0																																										SO:0001627	intron_variant	116985			AF411983	CCDS8217.2, CCDS41687.1, CCDS44671.1	11q13.3	2013-01-11	2008-09-22	2008-09-22	ENSG00000186635	ENSG00000186635		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16925	protein-coding gene	gene with protein product		606646	"""centaurin, delta 2"""	CENTD2			Standard	NM_001040118		Approved		uc001osu.3	Q96P48	OTTHUMG00000157102	ENST00000393609.3:c.3954+106C>T	11.37:g.72404263G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KLL7|B2RTS2|O94879|Q4LDD5|Q59FI7|Q6PHS3|Q8WU51|Q96HP6|Q96L71	RNA	SNP	-	NULL	ENST00000393609.3	37	NULL	CCDS41687.1	11																																																																																			ARAP1	-	-		0.602	ARAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARAP1	HGNC	protein_coding	OTTHUMT00000347428.1	G	NM_001040118		72404263	-1	no_errors	ENST00000544958	ensembl	human	known	70_37	rna	SNP	0.000	A
ARHGAP30	257106	genome.wustl.edu	37	1	161021240	161021240	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161021240G>A	ENST00000368013.3	-	10	1604	c.1284C>T	c.(1282-1284)ctC>ctT	p.L428L	ARHGAP30_ENST00000368016.3_Silent_p.L428L|ARHGAP30_ENST00000368015.1_Silent_p.L251L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	428					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)	p.L428L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			GGGGCACACTGAGGATAGAGG	0.617																																																	2	Substitution - coding silent(2)	cervix(2)											139.0	110.0	120.0					1																	161021240		2203	4300	6503	SO:0001819	synonymous_variant	257106			AL832852	CCDS1215.1, CCDS30918.1, CCDS72958.1	1q23.3	2011-06-29			ENSG00000186517	ENSG00000186517		"""Rho GTPase activating proteins"""	27414	protein-coding gene	gene with protein product		614264					Standard	NM_001287602		Approved	FLJ00267	uc001fxl.3	Q7Z6I6	OTTHUMG00000031477	ENST00000368013.3:c.1284C>T	1.37:g.161021240G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SY52|Q5SY53|Q5SY54|Q6ZML6|Q7Z3J8|Q86XI7	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L428	ENST00000368013.3	37	c.1284	CCDS30918.1	1																																																																																			ARHGAP30	-	NULL		0.617	ARHGAP30-007	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP30	HGNC	protein_coding	OTTHUMT00000077090.2	G	NM_181720		161021240	-1	no_errors	ENST00000368013	ensembl	human	known	70_37	silent	SNP	0.996	A
ARHGEF18	23370	genome.wustl.edu	37	19	7527213	7527213	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:7527213G>C	ENST00000359920.6	+	11	2317	c.2064G>C	c.(2062-2064)atG>atC	p.M688I	ARHGEF18_ENST00000319670.9_Missense_Mutation_p.M530I|CTD-2207O23.3_ENST00000593531.1_Nonstop_Mutation_p.*646S	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	688					actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transforming growth factor beta receptor signaling pathway (GO:0007179)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.M530I(1)|p.M688I(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				AGTCGGCCATGAGCGAGAGTA	0.652																																																	2	Substitution - Missense(2)	cervix(2)											26.0	28.0	27.0					19																	7527213		2203	4300	6503	SO:0001583	missense	23370			AK074372	CCDS12177.1, CCDS45946.1	19p13.3	2013-01-10	2009-06-12			ENSG00000104880		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	17090	protein-coding gene	gene with protein product	"""Rho-specific guanine nucleotide exchange factor p114"""		"""rho/rac guanine nucleotide exchange factor (GEF) 18"""			9628581, 11318610	Standard	NM_015318		Approved	P114-RhoGEF, KIAA0521, MGC15913	uc002mgi.3	Q6ZSZ5		ENST00000359920.6:c.2064G>C	19.37:g.7527213G>C	ENSP00000352995:p.Met688Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MV62|B5ME81|O60274|Q6DD92	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.M688I	ENST00000359920.6	37	c.2064	CCDS45946.1	19	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973226	0.34848	.	.	ENSG00000104880	ENST00000319670;ENST00000359920	T;T	0.24723	1.87;1.84	5.26	4.01	0.46588	.	0.333488	0.25296	N	0.031684	T	0.13586	0.0329	N	0.20685	0.6	0.39040	D	0.960103	B;B	0.13145	0.007;0.004	B;B	0.09377	0.004;0.002	T	0.12426	-1.0548	10	0.17832	T	0.49	-27.0535	7.4557	0.27266	0.1026:0.1744:0.723:0.0	.	530;688	Q6ZSZ5-2;Q6ZSZ5	.;ARHGI_HUMAN	I	530;688	ENSP00000319200:M530I;ENSP00000352995:M688I	ENSP00000319200:M530I	M	+	3	0	ARHGEF18	7433213	1.000000	0.71417	0.996000	0.52242	0.897000	0.52465	2.903000	0.48711	2.459000	0.83118	0.313000	0.20887	ATG	ARHGEF18	-	NULL		0.652	ARHGEF18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF18	HGNC	protein_coding	OTTHUMT00000436340.1	G	NM_015318		7527213	+1	no_errors	ENST00000359920	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF19	128272	genome.wustl.edu	37	1	16535286	16535286	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:16535286C>T	ENST00000270747.3	-	2	400	c.264G>A	c.(262-264)gaG>gaA	p.E88E	ARHGEF19_ENST00000478117.1_5'Flank	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	88					regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)		GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.E88E(1)		cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CGCTGGTGATCTCTGTATCTG	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											22.0	26.0	25.0					1																	16535286		2201	4298	6499	SO:0001819	synonymous_variant	128272			BC012982	CCDS170.1	1p36.13	2011-11-16			ENSG00000142632	ENSG00000142632		"""Rho guanine nucleotide exchange factors"""	26604	protein-coding gene	gene with protein product		612496				12477932	Standard	NM_153213		Approved	FLJ33962, WGEF	uc001ayc.1	Q8IW93	OTTHUMG00000002219	ENST00000270747.3:c.264G>A	1.37:g.16535286C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ04|Q5TEV2|Q6PJQ4|Q8N244	Silent	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.E88	ENST00000270747.3	37	c.264	CCDS170.1	1																																																																																			ARHGEF19	-	NULL		0.677	ARHGEF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF19	HGNC	protein_coding	OTTHUMT00000006289.1	C	NM_153213		16535286	-1	no_errors	ENST00000270747	ensembl	human	known	70_37	silent	SNP	0.001	T
ARL14EP	120534	genome.wustl.edu	37	11	30352607	30352607	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:30352607G>C	ENST00000282032.3	+	2	327	c.112G>C	c.(112-114)Gat>Cat	p.D38H		NM_152316.1	NP_689529.1	Q8N8R7	AL14E_HUMAN	ADP-ribosylation factor-like 14 effector protein	38						cytoplasm (GO:0005737)		p.D38H(1)									GTCATCAAATGATATGCTTTT	0.343																																																	1	Substitution - Missense(1)	cervix(1)											91.0	84.0	87.0					11																	30352607		2202	4299	6501	SO:0001583	missense	120534			AK096287	CCDS7869.1	11p14.1	2014-09-17	2012-07-09	2012-07-09	ENSG00000152219	ENSG00000152219			26798	protein-coding gene	gene with protein product		612295	"""chromosome 11 open reading frame 46"""	C11orf46		21458045	Standard	XM_005252792		Approved	FLJ38968, ARF7EP	uc001mso.1	Q8N8R7	OTTHUMG00000166154	ENST00000282032.3:c.112G>C	11.37:g.30352607G>C	ENSP00000282032:p.Asp38His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYH9	Missense_Mutation	SNP	NULL	p.D38H	ENST00000282032.3	37	c.112	CCDS7869.1	11	.	.	.	.	.	.	.	.	.	.	G	16.74	3.205950	0.58234	.	.	ENSG00000152219	ENST00000282032;ENST00000530909	T	0.69806	-0.43	5.56	5.56	0.83823	.	0.236330	0.43110	D	0.000604	T	0.77025	0.4070	L	0.43152	1.355	0.44780	D	0.997787	D	0.76494	0.999	D	0.72982	0.979	T	0.78411	-0.2214	10	0.72032	D	0.01	-20.0146	17.7137	0.88330	0.0:0.0:1.0:0.0	.	38	Q8N8R7	CK046_HUMAN	H	38	ENSP00000282032:D38H	ENSP00000282032:D38H	D	+	1	0	C11orf46	30309183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.515000	0.73751	2.626000	0.88956	0.650000	0.86243	GAT	ARL14EP	-	NULL		0.343	ARL14EP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL14EP	HGNC	protein_coding	OTTHUMT00000388129.1	G	NM_152316		30352607	+1	no_errors	ENST00000282032	ensembl	human	known	70_37	missense	SNP	1.000	C
ARPP21	10777	genome.wustl.edu	37	3	35833939	35833939	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:35833939C>A	ENST00000187397.4	+	19	2554	c.2098C>A	c.(2098-2100)Cag>Aag	p.Q700K	ARPP21_ENST00000417925.1_Missense_Mutation_p.Q701K|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q701K|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q681K|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.Q681K	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	700	Gln-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)	p.Q700K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCAGCCACCTCAGAGTCAGAA	0.473																																																	1	Substitution - Missense(1)	cervix(1)											160.0	150.0	153.0					3																	35833939		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.2098C>A	3.37:g.35833939C>A	ENSP00000187397:p.Gln700Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q701K	ENST00000187397.4	37	c.2101	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	C	19.02	3.744970	0.69418	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.54279	0.58;0.58;0.58;0.58;0.58	5.71	5.71	0.89125	.	0.089287	0.49305	D	0.000154	T	0.54159	0.1841	L	0.51422	1.61	0.38215	D	0.940585	B;P;B;B	0.38395	0.338;0.629;0.229;0.338	B;B;B;B	0.39840	0.116;0.311;0.05;0.116	T	0.59182	-0.7502	10	0.52906	T	0.07	-2.5409	19.8449	0.96704	0.0:1.0:0.0:0.0	.	701;223;700;681	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	K	701;681;681;700;701	ENSP00000414351:Q701K;ENSP00000337792:Q681K;ENSP00000405276:Q681K;ENSP00000187397:Q700K;ENSP00000412326:Q701K	ENSP00000187397:Q700K	Q	+	1	0	ARPP21	35808943	1.000000	0.71417	0.919000	0.36401	0.985000	0.73830	5.989000	0.70587	2.680000	0.91292	0.655000	0.94253	CAG	ARPP21	-	NULL		0.473	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	C	NM_198399		35833939	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	A
ASMTL	8623	genome.wustl.edu	37	X	1531691	1531691	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:1531691G>A	ENST00000381317.3	-	12	1611	c.1579C>T	c.(1579-1581)Ctg>Ttg	p.L527L	ASMTL-AS1_ENST00000602357.1_RNA|ASMTL-AS1_ENST00000425740.2_RNA|ASMTL_ENST00000416733.2_Silent_p.L451L|ASMTL_ENST00000381333.4_Silent_p.L511L|ASMTL-AS1_ENST00000420411.2_RNA|ASMTL_ENST00000534940.1_Silent_p.L469L|ASMTL-AS1_ENST00000419737.2_RNA	NM_004192.3	NP_004183.2	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	527	ASMT-like.					cytoplasm (GO:0005737)	O-methyltransferase activity (GO:0008171)	p.R104K(1)|p.L527L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGTCATGCAGGATCCGGCAC	0.542																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(2)											173.0	184.0	180.0					X																	1531691		2026	4185	6211	SO:0001819	synonymous_variant	8623			Y15521	CCDS43917.1, CCDS55362.1, CCDS55363.1	Xp22.3 and Yp11.3	2008-02-05			ENSG00000169093	ENSG00000169093		"""Pseudoautosomal regions / PAR1"""	751	protein-coding gene	gene with protein product		300162, 400011				9736779	Standard	NM_004192		Approved		uc004cpx.2	O95671	OTTHUMG00000021057	ENST00000381317.3:c.1579C>T	X.37:g.1531691G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX75|F5GXH4|J3JS33|Q5JQ53|Q8NBH5|Q96G02|Q9BUL6	Silent	SNP	pfam_Maf,pfam_O_MeTrfase_2,tigrfam_Maf	p.L527	ENST00000381317.3	37	c.1579	CCDS43917.1	X																																																																																			ASMTL	-	pfam_O_MeTrfase_2		0.542	ASMTL-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ASMTL	HGNC	protein_coding	OTTHUMT00000055595.1	G	NM_004192		1531691	-1	no_errors	ENST00000381317	ensembl	human	known	70_37	silent	SNP	1.000	A
ATAD2	29028	genome.wustl.edu	37	8	124408481	124408481	+	Silent	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:124408481G>C	ENST00000287394.5	-	1	224	c.117C>G	c.(115-117)ctC>ctG	p.L39L	ATAD2_ENST00000521903.1_Intron	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	39					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.L39L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CGGCCGAGCGGAGCCGCCTCC	0.716																																																	1	Substitution - coding silent(1)	cervix(1)											10.0	14.0	13.0					8																	124408481		2188	4294	6482	SO:0001819	synonymous_variant	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.117C>G	8.37:g.124408481G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Silent	SNP	pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.L39	ENST00000287394.5	37	c.117	CCDS6343.1	8																																																																																			ATAD2	-	NULL		0.716	ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAD2	HGNC	protein_coding	OTTHUMT00000381766.2	G	NM_014109		124408481	-1	no_errors	ENST00000287394	ensembl	human	known	70_37	silent	SNP	0.989	C
ATP9A	10079	genome.wustl.edu	37	20	50346391	50346391	+	Missense_Mutation	SNP	G	G	T	rs370100451		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:50346391G>T	ENST00000338821.5	-	2	459	c.195C>A	c.(193-195)ttC>ttA	p.F65L	ATP9A_ENST00000402822.1_Missense_Mutation_p.F65L|ATP9A_ENST00000311637.5_Missense_Mutation_p.F50L|ATP9A_ENST00000477492.1_5'UTR	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	65					phospholipid translocation (GO:0045332)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.F65L(1)		breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GAAAGGTGAAGAAATTGTACT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											148.0	124.0	132.0					20																	50346391		2203	4300	6503	SO:0001583	missense	10079			AB014511	CCDS33489.1	20q13.2	2010-04-20	2007-09-19		ENSG00000054793	ENSG00000054793		"""ATPases / P-type"""	13540	protein-coding gene	gene with protein product		609126	"""ATPase, Class II, type 9A"""			9734811, 11015572	Standard	NM_006045		Approved	KIAA0611, ATPIIA	uc002xwg.1	O75110	OTTHUMG00000032751	ENST00000338821.5:c.195C>A	20.37:g.50346391G>T	ENSP00000342481:p.Phe65Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Y3|E1P5Y4|Q5TFW5|Q5TFW6|Q5TFW9|Q6ZMF3|Q9NQK6|Q9NQK7	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.F65L	ENST00000338821.5	37	c.195	CCDS33489.1	20	.	.	.	.	.	.	.	.	.	.	G	4.504	0.093444	0.08632	.	.	ENSG00000054793	ENST00000311637;ENST00000338821;ENST00000402822	T;T;T	0.50001	0.76;0.76;0.76	5.27	0.761	0.18448	.	0.091143	0.85682	D	0.000000	T	0.26340	0.0643	N	0.02420	-0.555	0.23101	N	0.998292	P;B	0.37141	0.584;0.0	P;B	0.50617	0.646;0.001	T	0.27226	-1.0080	10	0.15499	T	0.54	-24.5361	4.0759	0.09904	0.1982:0.1094:0.5801:0.1123	.	65;65	O75110-2;O75110	.;ATP9A_HUMAN	L	50;65;65	ENSP00000309086:F50L;ENSP00000342481:F65L;ENSP00000385875:F65L	ENSP00000309086:F50L	F	-	3	2	ATP9A	49779798	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.487000	0.35540	0.291000	0.22468	0.563000	0.77884	TTC	ATP9A	-	tigrfam_ATPase_P-typ_Plipid-transl		0.507	ATP9A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP9A	HGNC	protein_coding	OTTHUMT00000106494.1	G	NM_006045		50346391	-1	no_errors	ENST00000338821	ensembl	human	known	70_37	missense	SNP	1.000	T
ATXN2	6311	genome.wustl.edu	37	12	111954009	111954009	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:111954009G>A	ENST00000377617.3	-	10	1965	c.1804C>T	c.(1804-1806)Cat>Tat	p.H602Y	ATXN2_ENST00000535949.1_Missense_Mutation_p.H313Y|ATXN2_ENST00000608853.1_Missense_Mutation_p.H442Y|ATXN2_ENST00000389153.4_Missense_Mutation_p.H337Y|ATXN2_ENST00000542287.2_Missense_Mutation_p.H337Y|ATXN2_ENST00000550104.1_Missense_Mutation_p.H602Y	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	602	Pro-rich.				cell death (GO:0008219)|cerebellar Purkinje cell differentiation (GO:0021702)|cytoplasmic mRNA processing body assembly (GO:0033962)|homeostasis of number of cells (GO:0048872)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of receptor internalization (GO:0002091)|neuromuscular process (GO:0050905)|neuron projection morphogenesis (GO:0048812)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA transport (GO:0050658)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|trans-Golgi network (GO:0005802)	epidermal growth factor receptor binding (GO:0005154)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.H602Y(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						GGAGAACCATGAGCAGAGGGG	0.552																																																	1	Substitution - Missense(1)	cervix(1)											46.0	49.0	48.0					12																	111954009		2203	4300	6503	SO:0001583	missense	6311			U80749	CCDS31902.1	12q23-q24.1	2014-09-17	2004-08-12	2004-08-13	ENSG00000204842	ENSG00000204842		"""Ataxins"""	10555	protein-coding gene	gene with protein product	"""trinucleotide repeat containing 13"""	601517	"""spinocerebellar ataxia 2 (olivopontocerebellar ataxia 2, autosomal dominant, ataxin 2)"""	SCA2, TNRC13		8358438, 9225980	Standard	NM_002973		Approved	ATX2	uc001tsj.3	Q99700	OTTHUMG00000133475	ENST00000377617.3:c.1804C>T	12.37:g.111954009G>A	ENSP00000366843:p.His602Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLD4|Q6ZQZ7|Q99493	Missense_Mutation	SNP	pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom	p.H602Y	ENST00000377617.3	37	c.1804	CCDS31902.1	12	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822269	0.32237	.	.	ENSG00000204842	ENST00000389153;ENST00000377617;ENST00000550104;ENST00000542287;ENST00000535949	T;T	0.67345	-0.21;-0.26	5.6	5.6	0.85130	.	0.091921	0.85682	D	0.000000	T	0.73393	0.3581	N	0.24115	0.695	0.58432	D	0.999991	P;D;P;D	0.67145	0.666;0.967;0.92;0.996	B;P;P;D	0.75484	0.097;0.622;0.527;0.986	T	0.76024	-0.3110	10	0.59425	D	0.04	-12.6528	19.1944	0.93681	0.0:0.0:1.0:0.0	.	337;602;313;337	B3KT59;Q99700;Q24JQ7;F8VQP2	.;ATX2_HUMAN;.;.	Y	337;602;602;337;313	ENSP00000366843:H602Y;ENSP00000446576:H602Y	ENSP00000366843:H602Y	H	-	1	0	ATXN2	110438392	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.258000	0.95555	2.617000	0.88574	0.655000	0.94253	CAT	ATXN2	-	NULL		0.552	ATXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN2	HGNC	protein_coding	OTTHUMT00000257351.3	G	NM_002973		111954009	-1	no_errors	ENST00000377617	ensembl	human	known	70_37	missense	SNP	1.000	A
B3GALT1	8708	genome.wustl.edu	37	2	168725859	168725859	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:168725859G>A	ENST00000392690.3	+	1	402	c.310G>A	c.(310-312)Gag>Aag	p.E104K	AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.E104K			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1	104					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)	p.E104K(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GTGGGGGGATGAGAACAACTT	0.458																																																	1	Substitution - Missense(1)	cervix(1)											64.0	63.0	63.0					2																	168725859		2203	4300	6503	SO:0001583	missense	8708			E07739	CCDS2227.1	2q24.3	2013-02-19			ENSG00000172318	ENSG00000172318		"""Beta 3-glycosyltransferases"""	916	protein-coding gene	gene with protein product		603093				9582303	Standard	NM_020981		Approved	beta3Gal-T1	uc002udz.1	Q9Y5Z6	OTTHUMG00000132163	ENST00000392690.3:c.310G>A	2.37:g.168725859G>A	ENSP00000376456:p.Glu104Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPB8|Q53SS2	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.E104K	ENST00000392690.3	37	c.310	CCDS2227.1	2	.	.	.	.	.	.	.	.	.	.	G	27.6	4.845338	0.91197	.	.	ENSG00000172318	ENST00000305861;ENST00000392690	T;T	0.41758	0.99;0.99	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.65228	0.2671	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59663	-0.7412	10	0.46703	T	0.11	-23.4544	20.8598	0.99761	0.0:0.0:1.0:0.0	.	104	Q9Y5Z6	B3GT1_HUMAN	K	104	ENSP00000303740:E104K;ENSP00000376456:E104K	ENSP00000303740:E104K	E	+	1	0	B3GALT1	168434105	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.835000	0.99442	2.937000	0.99478	0.650000	0.86243	GAG	B3GALT1	-	pfam_Glyco_trans_31		0.458	B3GALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT1	HGNC	protein_coding	OTTHUMT00000255211.2	G	NM_020981		168725859	+1	no_errors	ENST00000305861	ensembl	human	known	70_37	missense	SNP	1.000	A
BAZ1A	11177	genome.wustl.edu	37	14	35243591	35243591	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:35243591C>G	ENST00000382422.2	-	18	3266	c.2939G>C	c.(2938-2940)aGa>aCa	p.R980T	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R948T|BAZ1A_ENST00000360310.1_Missense_Mutation_p.R980T			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	980					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)	p.R980T(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		AAGAAAATCTCTCAGCCTTAG	0.388																																																	1	Substitution - Missense(1)	cervix(1)											112.0	107.0	109.0					14																	35243591		2203	4300	6503	SO:0001583	missense	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.2939G>C	14.37:g.35243591C>G	ENSP00000371859:p.Arg980Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Missense_Mutation	SNP	pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.R980T	ENST00000382422.2	37	c.2939	CCDS9651.1	14	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482364	0.84747	.	.	ENSG00000198604	ENST00000358716;ENST00000382422;ENST00000360310;ENST00000543083	T;T;T	0.78126	-1.14;-1.15;-1.15	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	D	0.86785	0.6016	M	0.76170	2.325	0.54753	D	0.99998	D;D	0.63046	0.99;0.992	P;P	0.58660	0.843;0.784	D	0.87347	0.2335	10	0.66056	D	0.02	.	19.9403	0.97159	0.0:1.0:0.0:0.0	.	948;980	Q9NRL2-2;Q9NRL2	.;BAZ1A_HUMAN	T	948;980;980;632	ENSP00000351555:R948T;ENSP00000371859:R980T;ENSP00000353458:R980T	ENSP00000351555:R948T	R	-	2	0	BAZ1A	34313342	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.101000	0.57769	2.712000	0.92718	0.650000	0.86243	AGA	BAZ1A	-	NULL		0.388	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ1A	HGNC	protein_coding	OTTHUMT00000276646.1	C			35243591	-1	no_errors	ENST00000360310	ensembl	human	known	70_37	missense	SNP	1.000	G
BBS12	166379	genome.wustl.edu	37	4	123663127	123663127	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:123663127G>C	ENST00000314218.3	+	2	273	c.80G>C	c.(79-81)aGa>aCa	p.R27T	BBS12_ENST00000542236.1_Missense_Mutation_p.R27T	NM_152618.2	NP_689831.2	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	27					cellular protein metabolic process (GO:0044267)|chaperone-mediated protein complex assembly (GO:0051131)|eating behavior (GO:0042755)|intraciliary transport (GO:0042073)|negative regulation of fat cell differentiation (GO:0045599)|photoreceptor cell maintenance (GO:0045494)	cilium (GO:0005929)	ATP binding (GO:0005524)	p.R27T(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						GAAACAGGAAGAACTTTCCTA	0.368									Bardet-Biedl syndrome																																								1	Substitution - Missense(1)	cervix(1)											86.0	86.0	86.0					4																	123663127		2203	4300	6503	SO:0001583	missense	166379	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	AK123553	CCDS3728.1	4q27	2014-06-17	2006-12-13	2006-12-13	ENSG00000181004	ENSG00000181004		"""Heat Shock Proteins / Chaperonins"""	26648	protein-coding gene	gene with protein product		610683	"""chromosome 4 open reading frame 24"""	C4orf24		17160889	Standard	NM_001178007		Approved	FLJ35630, FLJ41559	uc003ieu.3	Q6ZW61	OTTHUMG00000133070	ENST00000314218.3:c.80G>C	4.37:g.123663127G>C	ENSP00000319062:p.Arg27Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNX5|Q7Z342|Q7Z482|Q8NAB8	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1	p.R27T	ENST00000314218.3	37	c.80	CCDS3728.1	4	.	.	.	.	.	.	.	.	.	.	G	19.09	3.759279	0.69763	.	.	ENSG00000181004	ENST00000314218;ENST00000542236;ENST00000433287	T;T;T	0.79454	-1.27;-1.27;-1.27	5.2	5.2	0.72013	.	0.166828	0.44097	D	0.000481	D	0.84999	0.5597	M	0.64997	1.995	0.36993	D	0.894905	D	0.71674	0.998	D	0.69824	0.966	D	0.88206	0.2887	10	0.87932	D	0	-8.7216	12.4813	0.55844	0.0766:0.0:0.9234:0.0	.	27	Q6ZW61	BBS12_HUMAN	T	27	ENSP00000319062:R27T;ENSP00000438273:R27T;ENSP00000398912:R27T	ENSP00000319062:R27T	R	+	2	0	BBS12	123882577	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.303000	0.59098	2.588000	0.87417	0.650000	0.86243	AGA	BBS12	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1		0.368	BBS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BBS12	HGNC	protein_coding	OTTHUMT00000256710.1	G	NM_152618		123663127	+1	no_errors	ENST00000314218	ensembl	human	known	70_37	missense	SNP	1.000	C
BMP5	653	genome.wustl.edu	37	6	55625297	55625297	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:55625297C>T	ENST00000370830.3	-	5	1760	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	BMP5_ENST00000446683.2_Silent_p.K354K	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	354					cartilage development (GO:0051216)|growth (GO:0040007)|male genitalia development (GO:0030539)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of steroid biosynthetic process (GO:0010894)|ossification (GO:0001503)|pattern specification process (GO:0007389)|positive regulation of dendrite development (GO:1900006)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal system development (GO:0001501)|type B pancreatic cell development (GO:0003323)	extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)	p.K354K(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTTCGTGCTTCTTACAGGCTT	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											121.0	110.0	114.0					6																	55625297		2203	4300	6503	SO:0001819	synonymous_variant	653				CCDS4958.1	6p12.1	2014-01-30			ENSG00000112175	ENSG00000112175		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1072	protein-coding gene	gene with protein product		112265				1427904, 11580864	Standard	NM_021073		Approved		uc003pcq.3	P22003	OTTHUMG00000014903	ENST00000370830.3:c.1062G>A	6.37:g.55625297C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0Y4|Q9H547|Q9NTM5	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.K354	ENST00000370830.3	37	c.1062	CCDS4958.1	6																																																																																			BMP5	-	pfam_TGF-b_C,smart_TGF-b_C		0.353	BMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP5	HGNC	protein_coding	OTTHUMT00000041000.1	C			55625297	-1	no_errors	ENST00000370830	ensembl	human	known	70_37	silent	SNP	1.000	T
BMPR2	659	genome.wustl.edu	37	2	203407068	203407068	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:203407068G>A	ENST00000374580.4	+	10	1850	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	BMPR2_ENST00000374574.2_Silent_p.Q437Q	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	437	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.Q437Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						TGGCTTTTCAGACAGAGGTTG	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											66.0	67.0	67.0					2																	203407068		2203	4300	6503	SO:0001819	synonymous_variant	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.1311G>A	2.37:g.203407068G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q437	ENST00000374580.4	37	c.1311	CCDS33361.1	2																																																																																			BMPR2	-	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		0.413	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	G	NM_001204		203407068	+1	no_errors	ENST00000374580	ensembl	human	known	70_37	silent	SNP	1.000	A
BOD1L1	259282	genome.wustl.edu	37	4	13602587	13602587	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:13602587C>T	ENST00000040738.5	-	10	6072	c.5937G>A	c.(5935-5937)atG>atA	p.M1979I		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1979						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.M1979I(1)									CAGCACTAGTCATAGGACCCT	0.478																																																	1	Substitution - Missense(1)	cervix(1)											135.0	129.0	131.0					4																	13602587		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.5937G>A	4.37:g.13602587C>T	ENSP00000040738:p.Met1979Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.M1979I	ENST00000040738.5	37	c.5937	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374904	0.42105	.	.	ENSG00000038219	ENST00000040738	T	0.07216	3.21	5.62	4.78	0.61160	.	0.159373	0.44902	D	0.000413	T	0.07143	0.0181	L	0.29908	0.895	0.33841	D	0.631489	B	0.34103	0.437	B	0.30401	0.115	T	0.21484	-1.0244	10	0.39692	T	0.17	-6.6058	12.8335	0.57759	0.0:0.9243:0.0:0.0757	.	1979	Q8NFC6	BOD1L_HUMAN	I	1979	ENSP00000040738:M1979I	ENSP00000040738:M1979I	M	-	3	0	BOD1L	13211685	1.000000	0.71417	0.083000	0.20561	0.867000	0.49689	4.754000	0.62191	1.369000	0.46134	0.561000	0.74099	ATG	BOD1L1	-	NULL		0.478	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13602587	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.865	T
BOD1L1	259282	genome.wustl.edu	37	4	13603815	13603815	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:13603815C>T	ENST00000040738.5	-	10	4844	c.4709G>A	c.(4708-4710)aGa>aAa	p.R1570K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1570						nucleus (GO:0005634)	DNA binding (GO:0003677)	p.R1570K(1)									AGGATTATTTCTGGAATGTGT	0.473																																																	1	Substitution - Missense(1)	cervix(1)											40.0	36.0	37.0					4																	13603815		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4709G>A	4.37:g.13603815C>T	ENSP00000040738:p.Arg1570Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R1570K	ENST00000040738.5	37	c.4709	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	7.974	0.749797	0.15778	.	.	ENSG00000038219	ENST00000040738	T	0.05717	3.4	5.23	-4.14	0.03892	.	1.107660	0.06806	N	0.789447	T	0.02119	0.0066	N	0.04880	-0.145	0.09310	N	1	B	0.09022	0.002	B	0.06405	0.002	T	0.44190	-0.9344	10	0.02654	T	1	-3.1859	3.9997	0.09574	0.1177:0.1605:0.1299:0.5919	.	1570	Q8NFC6	BOD1L_HUMAN	K	1570	ENSP00000040738:R1570K	ENSP00000040738:R1570K	R	-	2	0	BOD1L	13212913	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.070000	0.14573	-0.575000	0.05982	-0.142000	0.14014	AGA	BOD1L1	-	NULL		0.473	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13603815	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.000	T
BRD4	23476	genome.wustl.edu	37	19	15379752	15379752	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:15379752G>T	ENST00000263377.2	-	3	608	c.387C>A	c.(385-387)ttC>ttA	p.F129L	BRD4_ENST00000371835.4_Missense_Mutation_p.F129L|BRD4_ENST00000360016.5_Missense_Mutation_p.F129L	NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	129	Bromo 1. {ECO:0000255|PROSITE- ProRule:PRU00035}.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)	p.F129L(2)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			ACATAGTGTTGAAGTCCTGGA	0.453			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	2	Substitution - Missense(2)	cervix(2)											160.0	143.0	149.0					19																	15379752		2203	4300	6503	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.387C>A	19.37:g.15379752G>T	ENSP00000263377:p.Phe129Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.F129L	ENST00000263377.2	37	c.387	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	G	21.2	4.105925	0.77096	.	.	ENSG00000141867	ENST00000263377;ENST00000371835;ENST00000360016	T;T;T	0.16897	2.31;2.31;2.31	5.25	4.0	0.46444	Bromodomain (5);Bromodomain, conserved site (1);	0.000000	0.64402	D	0.000006	T	0.28400	0.0702	L	0.28504	0.86	0.54753	D	0.999985	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.79784	0.993;0.972;0.989	T	0.01899	-1.1251	10	0.52906	T	0.07	-19.0381	13.6699	0.62418	0.0915:0.0:0.9085:0.0	.	129;129;129	Q4G0X8;O60885-2;O60885	.;.;BRD4_HUMAN	L	129	ENSP00000263377:F129L;ENSP00000360901:F129L;ENSP00000353112:F129L	ENSP00000263377:F129L	F	-	3	2	BRD4	15240752	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.341000	0.43983	2.455000	0.83008	0.655000	0.94253	TTC	BRD4	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain		0.453	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	G	NM_058243		15379752	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T
BRWD3	254065	genome.wustl.edu	37	X	79955474	79955474	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:79955474C>T	ENST00000373275.4	-	25	3141	c.2925G>A	c.(2923-2925)tgG>tgA	p.W975*	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	975					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)			p.W975*(1)		breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CCATTTTGTTCCATGGCTGTT	0.358																																																	1	Substitution - Nonsense(1)	cervix(1)											106.0	87.0	93.0					X																	79955474		2202	4300	6502	SO:0001587	stop_gained	254065				CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.2925G>A	X.37:g.79955474C>T	ENSP00000362372:p.Trp975*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.W975*	ENST00000373275.4	37	c.2925	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	C	44	10.549212	0.99425	.	.	ENSG00000165288	ENST00000373275	.	.	.	4.67	4.67	0.58626	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.3507	17.0635	0.86553	0.0:1.0:0.0:0.0	.	.	.	.	X	975	.	.	W	-	3	0	BRWD3	79842130	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.275000	0.78548	2.296000	0.77279	0.523000	0.50628	TGG	BRWD3	-	NULL		0.358	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	HGNC	protein_coding	OTTHUMT00000057344.1	C	NM_153252		79955474	-1	no_errors	ENST00000373275	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BTC	685	genome.wustl.edu	37	4	75675896	75675896	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:75675896C>G	ENST00000395743.3	-	4	675	c.315G>C	c.(313-315)gaG>gaC	p.E105D		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	105	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of mitosis (GO:0045840)|positive regulation of urine volume (GO:0035810)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)	p.E105D(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			AGTCAACTCTCTCACACCTTG	0.383																																																	1	Substitution - Missense(1)	cervix(1)											198.0	209.0	206.0					4																	75675896		2203	4300	6503	SO:0001583	missense	685			S55606	CCDS3566.1	4q13.3	2012-09-20			ENSG00000174808	ENSG00000174808			1121	protein-coding gene	gene with protein product		600345				8439318, 11522793	Standard	NM_001729		Approved		uc003hig.2	P35070	OTTHUMG00000130107	ENST00000395743.3:c.315G>C	4.37:g.75675896C>G	ENSP00000379092:p.Glu105Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96F48	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E105D	ENST00000395743.3	37	c.315	CCDS3566.1	4	.	.	.	.	.	.	.	.	.	.	C	16.57	3.160101	0.57368	.	.	ENSG00000174808	ENST00000395743	T	0.27890	1.64	5.32	2.29	0.28610	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.30696	0.0773	M	0.61703	1.905	0.35960	D	0.834537	P	0.42078	0.77	B	0.43360	0.417	T	0.34527	-0.9825	10	0.56958	D	0.05	.	6.0302	0.19677	0.0:0.5548:0.0:0.4452	.	105	P35070	BTC_HUMAN	D	105	ENSP00000379092:E105D	ENSP00000379092:E105D	E	-	3	2	BTC	75894920	0.032000	0.19561	0.994000	0.49952	0.988000	0.76386	0.049000	0.14099	0.697000	0.31718	0.563000	0.77884	GAG	BTC	-	pfscan_EG-like_dom		0.383	BTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTC	HGNC	protein_coding	OTTHUMT00000252413.1	C			75675896	-1	no_errors	ENST00000395743	ensembl	human	known	70_37	missense	SNP	0.932	G
BTLA	151888	genome.wustl.edu	37	3	112198561	112198561	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:112198561G>A	ENST00000334529.5	-	2	346	c.144C>T	c.(142-144)atC>atT	p.I48I	BTLA_ENST00000383680.4_Silent_p.I48I	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	48	Ig-like V-type.				immune response-regulating cell surface receptor signaling pathway (GO:0002768)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of B cell proliferation (GO:0030889)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.I48I(1)		breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				CTCCTGCTAAGATGGAGTGTT	0.368																																																	1	Substitution - coding silent(1)	cervix(1)											96.0	91.0	92.0					3																	112198561		2203	4300	6503	SO:0001819	synonymous_variant	151888			AY293286	CCDS33819.1, CCDS43130.1	3q13.2	2013-01-11			ENSG00000186265	ENSG00000186265		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	21087	protein-coding gene	gene with protein product		607925				12796776	Standard	NM_001085357		Approved	BTLA1, CD272	uc003dza.4	Q7Z6A9	OTTHUMG00000159255	ENST00000334529.5:c.144C>T	3.37:g.112198561G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B831|Q3HS85|Q6ZNH9	Silent	SNP	smart_Ig_sub,pfscan_Ig-like	p.I48	ENST00000334529.5	37	c.144	CCDS33819.1	3																																																																																			BTLA	-	smart_Ig_sub,pfscan_Ig-like		0.368	BTLA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTLA	HGNC	protein_coding	OTTHUMT00000354101.1	G	NM_181780		112198561	-1	no_errors	ENST00000334529	ensembl	human	known	70_37	silent	SNP	0.000	A
C17orf102	400591	genome.wustl.edu	37	17	32904624	32904624	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:32904624G>A	ENST00000357754.1	-	2	514	c.426C>T	c.(424-426)atC>atT	p.I142I		NM_207454.2	NP_997337.2	A2RUQ5	CQ102_HUMAN	chromosome 17 open reading frame 102	142								p.I142I(1)		central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						TGATGTTGGAGATATGCACCA	0.488																																																	1	Substitution - coding silent(1)	cervix(1)											121.0	115.0	117.0					17																	32904624		2021	4195	6216	SO:0001819	synonymous_variant	400591				CCDS42297.1	17q12	2009-02-11			ENSG00000197322	ENSG00000197322			34412	protein-coding gene	gene with protein product							Standard	NM_207454		Approved	FLJ44815	uc002hie.1	A2RUQ5	OTTHUMG00000156883	ENST00000357754.1:c.426C>T	17.37:g.32904624G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX0|Q6ZTB3	Silent	SNP	NULL	p.I142	ENST00000357754.1	37	c.426	CCDS42297.1	17																																																																																			C17orf102	-	NULL		0.488	C17orf102-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf102	HGNC	protein_coding	OTTHUMT00000346435.1	G	NM_207454		32904624	-1	no_errors	ENST00000357754	ensembl	human	known	70_37	silent	SNP	0.000	A
BZRAP1	9256	genome.wustl.edu	37	17	56399716	56399716	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:56399716G>A	ENST00000343736.4	-	10	1538	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	BZRAP1_ENST00000355701.3_Missense_Mutation_p.R459W|BZRAP1_ENST00000268893.6_Missense_Mutation_p.R399W			O95153	RIMB1_HUMAN	benzodiazepine receptor (peripheral) associated protein 1	459						cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	benzodiazepine receptor binding (GO:0030156)	p.R459W(2)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGCTGAGCCGAGCCTGTTCA	0.642																																																	2	Substitution - Missense(2)	cervix(2)											56.0	58.0	57.0					17																	56399716		2203	4300	6503	SO:0001583	missense	9256			AB014512	CCDS11605.1, CCDS45742.1	17q22-q23	2014-01-09	2014-01-09						16831	protein-coding gene	gene with protein product		610764				9734811, 9915832	Standard	NM_004758		Approved	PRAX-1, KIAA0612, RIM-BP1, RIMBP1	uc002ivx.5	O95153		ENST00000343736.4:c.1375C>T	17.37:g.56399716G>A	ENSP00000345824:p.Arg459Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75111|Q8N5W3	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain	p.R459W	ENST00000343736.4	37	c.1375	CCDS11605.1	17	.	.	.	.	.	.	.	.	.	.	G	22.8	4.332815	0.81801	.	.	ENSG00000005379	ENST00000355701;ENST00000343736;ENST00000268893	T;T;T	0.04275	3.66;3.66;3.66	4.8	3.8	0.43715	.	0.189560	0.35555	N	0.003128	T	0.07007	0.0178	N	0.22421	0.69	0.25974	N	0.98247	D;D;D	0.76494	0.994;0.999;0.997	P;P;P	0.56278	0.556;0.795;0.696	T	0.15378	-1.0439	10	0.62326	D	0.03	.	6.647	0.22941	0.0922:0.0:0.7214:0.1863	.	459;399;459	B7ZVZ7;O95153-2;O95153	.;.;RIMB1_HUMAN	W	459;459;399	ENSP00000347929:R459W;ENSP00000345824:R459W;ENSP00000268893:R399W	ENSP00000268893:R399W	R	-	1	2	BZRAP1	53754715	1.000000	0.71417	0.997000	0.53966	0.998000	0.95712	3.558000	0.53749	0.951000	0.37770	0.563000	0.77884	CGG	BZRAP1	-	NULL		0.642	BZRAP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	BZRAP1	HGNC	protein_coding	OTTHUMT00000443980.1	G	NM_004758		56399716	-1	no_errors	ENST00000355701	ensembl	human	known	70_37	missense	SNP	0.980	A
C1orf94	84970	genome.wustl.edu	37	1	34663019	34663019	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:34663019G>A	ENST00000488417.1	+	2	634	c.514G>A	c.(514-516)Gag>Aag	p.E172K	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	172										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGGCAGTAATGAGCGCCCCAG	0.597																																																	0													18.0	22.0	21.0					1																	34663019		692	1591	2283	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.514G>A	1.37:g.34663019G>A	ENSP00000435634:p.Glu172Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.E172K	ENST00000488417.1	37	c.514	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.909401	0.33721	.	.	ENSG00000142698	ENST00000488417	T	0.26067	1.76	4.83	2.84	0.33178	.	.	.	.	.	T	0.24236	0.0587	L	0.44542	1.39	0.09310	N	1	P	0.44139	0.827	B	0.41510	0.359	T	0.09122	-1.0689	9	0.66056	D	0.02	-14.2675	10.8654	0.46851	0.0:0.3999:0.6001:0.0	.	172	Q6P1W5	CA094_HUMAN	K	172	ENSP00000435634:E172K	ENSP00000435634:E172K	E	+	1	0	C1orf94	34435606	0.646000	0.27295	0.019000	0.16419	0.061000	0.15899	2.846000	0.48262	1.234000	0.43709	0.655000	0.94253	GAG	C1orf94	-	NULL		0.597	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	G	NM_032884		34663019	+1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.003	A
C2orf78	388960	genome.wustl.edu	37	2	74041326	74041326	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:74041326C>G	ENST00000409561.1	+	2	941	c.820C>G	c.(820-822)Caa>Gaa	p.Q274E		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	274								p.Q274E(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TGTGTCTTCTCAACCCATCAC	0.463																																																	2	Substitution - Missense(2)	cervix(2)											100.0	104.0	103.0					2																	74041326		2114	4239	6353	SO:0001583	missense	388960			AC092653, AC136006, AK125975	CCDS46338.1	2p13.2	2008-07-18			ENSG00000187833	ENSG00000187833			34349	protein-coding gene	gene with protein product							Standard	NM_001080474		Approved	FLJ43987, hCG1989538, COG5373	uc002sjr.1	A6NCI8	OTTHUMG00000152819	ENST00000409561.1:c.820C>G	2.37:g.74041326C>G	ENSP00000387124:p.Gln274Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Q274E	ENST00000409561.1	37	c.820	CCDS46338.1	2	.	.	.	.	.	.	.	.	.	.	C	14.04	2.417065	0.42918	.	.	ENSG00000187833	ENST00000409561;ENST00000342345	.	.	.	5.48	5.48	0.80851	.	0.297368	0.17746	U	0.163389	T	0.63260	0.2496	M	0.79475	2.455	0.31963	N	0.608197	P	0.48589	0.912	P	0.47744	0.556	T	0.73642	-0.3918	9	0.72032	D	0.01	-6.4416	15.2226	0.73324	0.0:1.0:0.0:0.0	.	274	A6NCI8	CB078_HUMAN	E	274	.	ENSP00000340692:Q274E	Q	+	1	0	C2orf78	73894834	0.843000	0.29541	0.955000	0.39395	0.058000	0.15608	3.363000	0.52321	2.745000	0.94114	0.655000	0.94253	CAA	C2orf78	-	NULL		0.463	C2orf78-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	C2orf78	HGNC	protein_coding	OTTHUMT00000328083.1	C	NM_001080474		74041326	+1	no_errors	ENST00000409561	ensembl	human	novel	70_37	missense	SNP	0.985	G
TDRP	157695	genome.wustl.edu	37	8	442413	442413	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:442413C>T	ENST00000324079.6	-	3	784	c.544G>A	c.(544-546)Gag>Aag	p.E182K	TDRP_ENST00000523656.1_Intron|TDRP_ENST00000427263.2_Intron|TDRP_ENST00000524229.1_5'Flank			Q86YL5	TDRP_HUMAN	testis development related protein	182					spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E182K(1)									TCCGCCTCCTCCGGGCTATCT	0.607																																																	1	Substitution - Missense(1)	cervix(1)											10.0	11.0	11.0					8																	442413		2056	4201	6257	SO:0001583	missense	157695			AY194292	CCDS47759.1, CCDS59090.1	8p23.3	2013-06-03	2013-06-03	2013-06-03	ENSG00000180190	ENSG00000180190			26951	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 42"""	C8orf42		20170638	Standard	NM_175075		Approved	INM01, TDRP1, TDRP2		Q86YL5	OTTHUMG00000163593	ENST00000324079.6:c.544G>A	8.37:g.442413C>T	ENSP00000315111:p.Glu182Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B6VF03|B9EG53	Missense_Mutation	SNP	NULL	p.E182K	ENST00000324079.6	37	c.544	CCDS47759.1	8	.	.	.	.	.	.	.	.	.	.	C	16.95	3.262262	0.59431	.	.	ENSG00000180190	ENST00000324079	.	.	.	6.08	5.19	0.71726	.	0.099847	0.64402	D	0.000003	T	0.64271	0.2583	L	0.46157	1.445	0.80722	D	1	D	0.57571	0.98	P	0.54856	0.762	T	0.66763	-0.5841	9	0.56958	D	0.05	.	15.1125	0.72368	0.0:0.8578:0.1422:0.0	.	182	Q86YL5	CH042_HUMAN	K	182	.	ENSP00000315111:E182K	E	-	1	0	C8orf42	432413	1.000000	0.71417	0.490000	0.27465	0.086000	0.17979	4.921000	0.63397	1.541000	0.49316	0.655000	0.94253	GAG	C8orf42	-	NULL		0.607	TDRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf42	HGNC	protein_coding	OTTHUMT00000374442.1	C	NM_175075		442413	-1	no_errors	ENST00000324079	ensembl	human	known	70_37	missense	SNP	0.998	T
CACNA1D	776	genome.wustl.edu	37	3	53808636	53808636	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:53808636G>A	ENST00000350061.5	+	34	4644	c.4133G>A	c.(4132-4134)aGa>aAa	p.R1378K	CACNA1D_ENST00000288139.4_Missense_Mutation_p.R1398K|CACNA1D_ENST00000540742.1_Missense_Mutation_p.R270K|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R1363K	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1378					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)	p.R1398K(1)		breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GTTGCCATGAGAGATAACAAC	0.448																																																	1	Substitution - Missense(1)	cervix(1)											116.0	117.0	117.0					3																	53808636		2203	4300	6503	SO:0001583	missense	776			AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.4133G>A	3.37:g.53808636G>A	ENSP00000288133:p.Arg1378Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu	p.R1398K	ENST00000350061.5	37	c.4193	CCDS46848.1	3	.	.	.	.	.	.	.	.	.	.	G	7.895	0.733055	0.15507	.	.	ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478;ENST00000540742	D;D;D;D;D	0.98313	-4.86;-4.86;-4.86;-4.86;-4.86	6.06	3.3	0.37823	Ion transport (1);	0.189943	0.46442	D	0.000285	D	0.93504	0.7927	N	0.17248	0.465	0.80722	D	1	B;B;B;B;B	0.21753	0.013;0.0;0.026;0.06;0.01	B;B;B;B;B	0.22152	0.029;0.002;0.017;0.038;0.01	D	0.90020	0.4127	10	0.11182	T	0.66	.	10.9318	0.47222	0.2376:0.0:0.7624:0.0	.	1363;270;1071;1378;1398	B0FYA3;F5H313;Q59GD8;Q01668;Q01668-2	.;.;.;CAC1D_HUMAN;.	K	1378;1398;1363;1071;270	ENSP00000288133:R1378K;ENSP00000288139:R1398K;ENSP00000409174:R1363K;ENSP00000418014:R1071K;ENSP00000438229:R270K	ENSP00000288139:R1398K	R	+	2	0	CACNA1D	53783676	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.575000	0.36493	1.582000	0.49881	-0.137000	0.14449	AGA	CACNA1D	-	pfam_Ion_trans_dom,pfam_PKD1_2_channel		0.448	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1D	HGNC	protein_coding	OTTHUMT00000350557.1	G	NM_000720		53808636	+1	no_errors	ENST00000288139	ensembl	human	known	70_37	missense	SNP	1.000	A
CACNG5	27091	genome.wustl.edu	37	17	64880840	64880840	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:64880840G>A	ENST00000533854.1	+	5	807				CACNG5_ENST00000169565.3_Missense_Mutation_p.G211E|CACNG5_ENST00000307139.3_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5						regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	ion transmembrane transporter activity (GO:0015075)|voltage-gated calcium channel activity (GO:0005245)	p.G211E(1)		NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			CTGAGCCGGGGAGAGTGGGGA	0.572																																																	1	Substitution - Missense(1)	cervix(1)											88.0	85.0	86.0					17																	64880840		2203	4300	6503	SO:0001627	intron_variant	27091			AF148220	CCDS11665.1	17q24	2004-02-16				ENSG00000075429		"""Calcium channel subunits"""	1409	protein-coding gene	gene with protein product		606405				10613843	Standard	NM_145811		Approved		uc010wqj.2	Q9UF02		ENST00000533854.1:c.570+62G>A	17.37:g.64880840G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A6|Q547R3|Q8WXS7|Q9UHM3	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su	p.G211E	ENST00000533854.1	37	c.632	CCDS11665.1	17	.	.	.	.	.	.	.	.	.	.	G	8.674	0.903529	0.17760	.	.	ENSG00000075429	ENST00000169565	T	0.57436	0.4	2.57	-1.45	0.08828	.	1.247360	0.05459	N	0.550863	T	0.35248	0.0925	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20806	-1.0264	6	.	.	.	0.0012	4.2983	0.10913	0.3362:0.0:0.1276:0.5362	.	.	.	.	E	211	ENSP00000169565:G211E	.	G	+	2	0	CACNG5	62311302	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.840000	0.04363	-0.323000	0.08602	-0.508000	0.04489	GGA	CACNG5	-	NULL		0.572	CACNG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNG5	HGNC	protein_coding	OTTHUMT00000389882.1	G	NM_014404, NM_145811		64880840	+1	no_errors	ENST00000169565	ensembl	human	known	70_37	missense	SNP	0.001	A
CACYBP	27101	genome.wustl.edu	37	1	174973857	174973857	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:174973857G>A	ENST00000367679.2	+	2	571	c.123G>A	c.(121-123)aaG>aaA	p.K41K	CACYBP_ENST00000367681.2_5'UTR|CACYBP_ENST00000405362.1_5'UTR|CACYBP_ENST00000406752.1_Silent_p.K41K	NM_014412.2	NP_055227.1	Q9HB71	CYBP_HUMAN	calcyclin binding protein	41	Interaction with SIAH1.				aging (GO:0007568)|cardiac muscle cell differentiation (GO:0055007)|cellular response to calcium ion (GO:0071277)|negative regulation of cell death (GO:0060548)|positive regulation of DNA replication (GO:0045740)|response to growth hormone (GO:0060416)	beta-catenin destruction complex (GO:0030877)|cell body (GO:0044297)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|nuclear envelope lumen (GO:0005641)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)	p.K41K(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CAGAAATCAAGAACAAGATGC	0.408																																																	1	Substitution - coding silent(1)	cervix(1)											94.0	88.0	90.0					1																	174973857		2203	4300	6503	SO:0001819	synonymous_variant	27101			BC022352	CCDS1315.1, CCDS30942.1	1q24-q25	2008-02-05			ENSG00000116161	ENSG00000116161			30423	protein-coding gene	gene with protein product		606186				11389839, 12421809	Standard	XM_005245092		Approved	SIP, S100A6BP	uc001gkj.1	Q9HB71	OTTHUMG00000034941	ENST00000367679.2:c.123G>A	1.37:g.174973857G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZWH2|B3KSF1|O60666|Q5R370|Q5R371	Silent	SNP	pfam_Siah-Interact_N,pfam_CS_domain,pfam_SGS,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_SGS	p.K41	ENST00000367679.2	37	c.123	CCDS1315.1	1	.	.	.	.	.	.	.	.	.	.	G	9.704	1.155382	0.21454	.	.	ENSG00000116161	ENST00000450101	.	.	.	6.17	4.31	0.51392	.	.	.	.	.	T	0.58708	0.2141	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.56763	-0.7925	4	.	.	.	3.8809	8.1971	0.31402	0.1307:0.0:0.7427:0.1266	.	.	.	.	K	15	.	.	R	+	2	0	CACYBP	173240480	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.816000	0.48026	1.637000	0.50538	0.655000	0.94253	AGA	CACYBP	-	pfam_Siah-Interact_N		0.408	CACYBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACYBP	HGNC	protein_coding	OTTHUMT00000084583.3	G	NM_014412		174973857	+1	no_errors	ENST00000367679	ensembl	human	known	70_37	silent	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27459221	27459221	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:27459221G>C	ENST00000403525.1	+	25	4099	c.3955G>C	c.(3955-3957)Gag>Cag	p.E1319Q	CAD_ENST00000264705.4_Missense_Mutation_p.E1382Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.E1382Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GAGCATCCTGGAGCAGCTAGC	0.582																																																	1	Substitution - Missense(1)	cervix(1)											73.0	68.0	70.0					2																	27459221		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.3955G>C	2.37:g.27459221G>C	ENSP00000384510:p.Glu1319Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.E1382Q	ENST00000403525.1	37	c.4144		2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.53|14.53	2.562375|2.562375	0.45694|0.45694	.|.	.|.	ENSG00000084774|ENSG00000084774	ENST00000264705;ENST00000403525|ENST00000458503	D;D|.	0.81821|.	-1.54;-1.54|.	5.03|5.03	5.03|5.03	0.67393|0.67393	Methylglyoxal synthase-like domain (4);|.	0.188988|.	0.56097|.	D|.	0.000035|.	T|T	0.49762|0.49762	0.1576|0.1576	N|N	0.16098|0.16098	0.37|0.37	0.43740|0.43740	D|D	0.996231|0.996231	B;B|.	0.09022|.	0.002;0.001|.	B;B|.	0.13407|.	0.009;0.004|.	T|T	0.45220|0.45220	-0.9276|-0.9276	10|5	0.02654|.	T|.	1|.	-4.6482|-4.6482	17.2725|17.2725	0.87106|0.87106	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1319;1382|.	F8VPD4;P27708|.	.;PYR1_HUMAN|.	Q|C	1382;1319|26	ENSP00000264705:E1382Q;ENSP00000384510:E1319Q|.	ENSP00000264705:E1382Q|.	E|W	+|+	1|3	0|0	CAD|CAD	27312725|27312725	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.625000|5.625000	0.67770|0.67770	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	GAG|TGG	CAD	-	pfam_MGS-like_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,tigrfam_CarbamoylP_synth_lsu		0.582	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	G			27459221	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	C
CARD11	84433	genome.wustl.edu	37	7	2963931	2963931	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:2963931C>T	ENST00000396946.4	-	15	2279	c.1876G>A	c.(1876-1878)Gag>Aag	p.E626K		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	626					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.E619K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCAGGCCCTCGGATTGGTGG	0.602			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	cervix(1)											80.0	67.0	72.0					7																	2963931		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.1876G>A	7.37:g.2963931C>T	ENSP00000380150:p.Glu626Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.E626K	ENST00000396946.4	37	c.1876	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	17.96	3.516723	0.64634	.	.	ENSG00000198286	ENST00000396946;ENST00000355508	T;T	0.47528	0.84;0.84	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.38665	0.1049	N	0.14661	0.345	0.80722	D	1	D	0.69078	0.997	P	0.50405	0.64	T	0.12344	-1.0551	10	0.10902	T	0.67	-29.758	16.815	0.85732	0.0:1.0:0.0:0.0	.	626	Q9BXL7	CAR11_HUMAN	K	626;97	ENSP00000380150:E626K;ENSP00000347695:E97K	ENSP00000347695:E97K	E	-	1	0	CARD11	2930457	1.000000	0.71417	0.987000	0.45799	0.905000	0.53344	6.942000	0.75928	2.416000	0.81992	0.555000	0.69702	GAG	CARD11	-	NULL		0.602	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2963931	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	1.000	T
CCAR1	55749	genome.wustl.edu	37	10	70547683	70547683	+	Splice_Site	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:70547683G>A	ENST00000265872.6	+	22	2999		c.e22-1		CCAR1_ENST00000535016.1_Splice_Site|CCAR1_ENST00000543719.1_Splice_Site	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1						apoptotic process (GO:0006915)|cell cycle (GO:0007049)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|poly(A) RNA binding (GO:0044822)	p.?(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATGCATAACAGGTAAAGAAGC	0.323																																																	1	Unknown(1)	cervix(1)											73.0	74.0	74.0					10																	70547683		2203	4300	6503	SO:0001630	splice_region_variant	55749			AY249140	CCDS7282.1, CCDS60547.1	10q22.1	2004-02-19			ENSG00000060339	ENSG00000060339			24236	protein-coding gene	gene with protein product		612569				12816952	Standard	NM_018237		Approved	FLJ10590, CARP-1, CARP1	uc001joo.3	Q8IX12	OTTHUMG00000018361	ENST00000265872.6:c.2881-1G>A	10.37:g.70547683G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLT7|A1L4P7|A8K9D4|B4DNP8|B4DRK8|Q32NE3|Q5EBM3|Q5VUP6|Q6PIZ0|Q6X935|Q9H8N4|Q9NVA7|Q9NVQ0|Q9NWM6	Splice_Site	SNP	-	e21-1	ENST00000265872.6	37	c.2881-1	CCDS7282.1	10	.	.	.	.	.	.	.	.	.	.	G	16.97	3.269544	0.59540	.	.	ENSG00000060339	ENST00000265872;ENST00000535016;ENST00000543719;ENST00000539539;ENST00000543706	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.8867	0.92381	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCAR1	70217689	1.000000	0.71417	0.996000	0.52242	0.726000	0.41606	9.381000	0.97205	2.516000	0.84829	0.563000	0.77884	.	CCAR1	-	-		0.323	CCAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCAR1	HGNC	protein_coding	OTTHUMT00000048356.2	G	NM_018237	Intron	70547683	+1	no_errors	ENST00000265872	ensembl	human	known	70_37	splice_site	SNP	1.000	A
CCDC129	223075	genome.wustl.edu	37	7	31682837	31682837	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:31682837G>T	ENST00000407970.3	+	11	1891	c.1853G>T	c.(1852-1854)cGa>cTa	p.R618L	CCDC129_ENST00000409210.1_Missense_Mutation_p.R526L|CCDC129_ENST00000451887.2_Missense_Mutation_p.R644L|CCDC129_ENST00000319386.3_Missense_Mutation_p.R470L	NM_001257967.1|NM_194300.3	NP_001244896.1|NP_919276.2	Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	618								p.R618L(1)|p.R470L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GAGGCCCCACGAGAAGAGGAA	0.488																																																	2	Substitution - Missense(2)	cervix(2)											118.0	110.0	113.0					7																	31682837		2203	4300	6503	SO:0001583	missense	223075			AK128026	CCDS5435.2, CCDS59050.1, CCDS75577.1	7p14.3	2006-08-21			ENSG00000180347	ENSG00000180347			27363	protein-coding gene	gene with protein product						14702039	Standard	NM_001257967		Approved	FLJ38344	uc011kad.1	Q6ZRS4	OTTHUMG00000128611	ENST00000407970.3:c.1853G>T	7.37:g.31682837G>T	ENSP00000384416:p.Arg618Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU17|B3KTI9|B4DHB0|B4E2R1|F5H3V5	Missense_Mutation	SNP	NULL	p.R644L	ENST00000407970.3	37	c.1931	CCDS5435.2	7	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400419	0.62177	.	.	ENSG00000180347	ENST00000319386;ENST00000407970;ENST00000451887;ENST00000538406;ENST00000409210	T;T;T;T	0.19250	2.16;2.43;2.42;2.17	6.02	0.913	0.19354	.	1.466740	0.04025	N	0.300375	T	0.34658	0.0905	M	0.65975	2.015	0.09310	N	1	D;D;D;D	0.60575	0.979;0.988;0.988;0.959	P;P;P;P	0.52672	0.648;0.706;0.706;0.488	T	0.12915	-1.0529	10	0.62326	D	0.03	-17.3979	5.8617	0.18752	0.2204:0.2551:0.5245:0.0	.	644;628;618;470	F5H3V5;F5H2J8;Q6ZRS4;Q6ZRS4-2	.;.;CC129_HUMAN;.	L	470;618;644;628;526	ENSP00000313062:R470L;ENSP00000384416:R618L;ENSP00000395835:R644L;ENSP00000387214:R526L	ENSP00000313062:R470L	R	+	2	0	CCDC129	31649362	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	0.152000	0.16302	-0.104000	0.12154	0.655000	0.94253	CGA	CCDC129	-	NULL		0.488	CCDC129-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC129	HGNC	protein_coding	OTTHUMT00000318975.1	G	NM_194300		31682837	+1	no_errors	ENST00000451887	ensembl	human	known	70_37	missense	SNP	0.000	T
CCDC7	79741	genome.wustl.edu	37	10	32854533	32854533	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:32854533G>A	ENST00000362006.5	+	15	1725	c.1182G>A	c.(1180-1182)ttG>ttA	p.L394L	C10orf68_ENST00000375028.3_5'Flank|C10orf68_ENST00000572165.1_3'UTR|CCDC7_ENST00000277657.6_Silent_p.L394L|C10orf68_ENST00000375030.2_5'Flank	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	394								p.L394L(1)		NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				AGGAGCAATTGAAACAGGCTT	0.303																																																	1	Substitution - coding silent(1)	cervix(1)											47.0	46.0	46.0					10																	32854533		2203	4299	6502	SO:0001819	synonymous_variant	79741			BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.1182G>A	10.37:g.32854533G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VW55|Q8IVQ0|Q8NEQ0	Silent	SNP	NULL	p.L394	ENST00000362006.5	37	c.1182	CCDS7173.1	10																																																																																			CCDC7	-	NULL		0.303	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	CCDC7	HGNC	protein_coding	OTTHUMT00000047490.1	G	NM_145023		32854533	+1	no_errors	ENST00000277657	ensembl	human	known	70_37	silent	SNP	0.612	A
CCPG1	9236	genome.wustl.edu	37	15	55652788	55652788	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:55652788C>A	ENST00000310958.6	-	8	1481	c.1183G>T	c.(1183-1185)Gct>Tct	p.A395S	CCPG1_ENST00000425574.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.A395S|CCPG1_ENST00000569205.1_Missense_Mutation_p.A395S	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	395					cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)		p.A395S(1)		autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		CCCCTTAAAGCCGTAGTTACT	0.408																																																	1	Substitution - Missense(1)	cervix(1)											96.0	92.0	93.0					15																	55652788		1880	4110	5990	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.1183G>T	15.37:g.55652788C>A	ENSP00000311656:p.Ala395Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.A395S	ENST00000310958.6	37	c.1183	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	4.261	0.047561	0.08243	.	.	ENSG00000256061	ENST00000310958;ENST00000442196	T;T	0.39787	1.06;1.06	5.73	2.8	0.32819	.	0.303900	0.40908	N	0.000982	T	0.42426	0.1202	M	0.63843	1.955	0.37553	D	0.918784	P;P;P;P	0.51537	0.897;0.828;0.897;0.946	B;B;B;P	0.48677	0.432;0.16;0.432;0.586	T	0.39860	-0.9593	10	0.21540	T	0.41	.	8.0283	0.30451	0.1298:0.7332:0.0:0.137	.	395;395;395;251	A8K9T0;Q9ULG6-4;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	S	395	ENSP00000311656:A395S;ENSP00000403400:A395S	ENSP00000311656:A395S	A	-	1	0	DYX1C1	53440080	0.961000	0.32948	0.006000	0.13384	0.030000	0.12068	2.235000	0.43044	0.420000	0.25954	-0.150000	0.13652	GCT	CCPG1	-	NULL		0.408	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55652788	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.690	A
CD163	9332	genome.wustl.edu	37	12	7637945	7637945	+	Silent	SNP	A	A	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:7637945A>G	ENST00000359156.4	-	11	2728	c.2526T>C	c.(2524-2526)ttT>ttC	p.F842F	CD163_ENST00000541972.1_Silent_p.F830F|CD163_ENST00000396620.3_Silent_p.F875F|CD163_ENST00000432237.2_Silent_p.F842F|CD163_ENST00000539632.1_5'Flank	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	842	SRCR 8. {ECO:0000255|PROSITE- ProRule:PRU00196}.				acute-phase response (GO:0006953)|receptor-mediated endocytosis (GO:0006898)	endocytic vesicle membrane (GO:0030666)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)	p.F842F(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76					WF10(DB05389)	CTCCATTGTAAAAAACTTCCA	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											92.0	89.0	90.0					12																	7637945		2203	4300	6503	SO:0001819	synonymous_variant	9332			Z22968	CCDS8578.1, CCDS53742.1	12p13	2006-03-28	2006-03-28		ENSG00000177575	ENSG00000177575		"""CD molecules"""	1631	protein-coding gene	gene with protein product		605545	"""CD163 antigen"""			10403791, 8370408	Standard	NM_004244		Approved	M130, MM130	uc001qsz.3	Q86VB7	OTTHUMG00000168353	ENST00000359156.4:c.2526T>C	12.37:g.7637945A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JIG2|Q07898|Q07899|Q07900|Q07901|Q2VLH7	Silent	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.F842	ENST00000359156.4	37	c.2526	CCDS8578.1	12																																																																																			CD163	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.498	CD163-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD163	HGNC	protein_coding	OTTHUMT00000399396.2	A	NM_004244, NM_203416		7637945	-1	no_errors	ENST00000359156	ensembl	human	known	70_37	silent	SNP	0.994	G
CDC27	996	genome.wustl.edu	37	17	45247376	45247376	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:45247376C>A	ENST00000066544.3	-	4	377	c.284G>T	c.(283-285)gGa>gTa	p.G95V	CDC27_ENST00000527547.1_Missense_Mutation_p.G95V|CDC27_ENST00000446365.2_Missense_Mutation_p.G34V|CDC27_ENST00000531206.1_Missense_Mutation_p.G95V|CDC27_ENST00000528748.1_5'UTR|RP5-867C24.5_ENST00000572193.1_RNA	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	95					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell proliferation (GO:0008283)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	protein phosphatase binding (GO:0019903)	p.G95V(2)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ATTAAACACTCCACCAGATAA	0.313																																																	2	Substitution - Missense(2)	cervix(2)											100.0	109.0	106.0					17																	45247376		2203	4300	6503	SO:0001583	missense	996			U00001	CCDS11509.1, CCDS45720.1, CCDS74090.1	17q21.32	2013-01-17	2013-01-17		ENSG00000004897	ENSG00000004897		"""Anaphase promoting complex subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	1728	protein-coding gene	gene with protein product	"""anaphase promoting complex subunit 3"""	116946	"""cell division cycle 27"", ""cell division cycle 27 homolog (S. cerevisiae)"""	D0S1430E, D17S978E		8234252	Standard	XM_005257892		Approved	APC3, ANAPC3, NUC2	uc002ile.4	P30260	OTTHUMG00000166429	ENST00000066544.3:c.284G>T	17.37:g.45247376C>A	ENSP00000066544:p.Gly95Val	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V1C4|Q16349|Q96F35	Nonsense_Mutation	SNP	NULL	p.E46*	ENST00000066544.3	37	c.136	CCDS11509.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.558500|6.558500	0.97663|0.97663	.|.	.|.	ENSG00000004897|ENSG00000004897	ENST00000533415|ENST00000066544;ENST00000531206;ENST00000446365;ENST00000527547;ENST00000526866	.|T;T;T;T;T	.|0.69926	.|-0.43;-0.44;-0.19;-0.43;0.75	5.35|5.35	5.35|5.35	0.76521|0.76521	.|Tetratricopeptide-like helical (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.69566	.|0.3125	L|L	0.48362|0.48362	1.52|1.52	0.80722|0.80722	D|D	1|1	.|P;P;P;P	.|0.47762	.|0.875;0.673;0.818;0.9	.|B;B;B;P	.|0.50352	.|0.307;0.308;0.311;0.638	.|T	.|0.68292	.|-0.5447	.|10	0.59425|0.39692	D|T	0.04|0.17	-10.6938|-10.6938	16.9253|16.9253	0.86174|0.86174	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|34;95;95;95	.|B4DL80;G5EA36;G3V1C4;P30260	.|.;.;.;CDC27_HUMAN	X|V	46|95;95;34;95;95	.|ENSP00000066544:G95V;ENSP00000434614:G95V;ENSP00000392802:G34V;ENSP00000437339:G95V;ENSP00000432105:G95V	ENSP00000432211:E46X|ENSP00000066544:G95V	E|G	-|-	1|2	0|0	CDC27|CDC27	42602375|42602375	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.687000|7.687000	0.84139|0.84139	2.663000|2.663000	0.90544|0.90544	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CDC27	-	NULL		0.313	CDC27-001	KNOWN	basic|CCDS	protein_coding	CDC27	HGNC	protein_coding	OTTHUMT00000389742.2	C			45247376	-1	no_errors	ENST00000533415	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CDH10	1008	genome.wustl.edu	37	5	24509805	24509805	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:24509805C>T	ENST00000264463.4	-	7	1633	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	376	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E376K(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TCCACATCTTCTATAGAGATT	0.378										HNSCC(23;0.051)																																							1	Substitution - Missense(1)	cervix(1)											93.0	94.0	94.0					5																	24509805		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.1126G>A	5.37:g.24509805C>T	ENSP00000264463:p.Glu376Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E376K	ENST00000264463.4	37	c.1126	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	27.1	4.803664	0.90623	.	.	ENSG00000040731	ENST00000264463	T	0.01854	4.6	5.26	4.39	0.52855	Cadherin (3);Cadherin-like (1);	0.099973	0.64402	D	0.000002	T	0.06325	0.0163	M	0.72894	2.215	0.47698	D	0.999493	P	0.45957	0.869	P	0.48400	0.576	T	0.37361	-0.9709	10	0.35671	T	0.21	.	13.3696	0.60705	0.0:0.9235:0.0:0.0765	.	376	Q9Y6N8	CAD10_HUMAN	K	376	ENSP00000264463:E376K	ENSP00000264463:E376K	E	-	1	0	CDH10	24545562	1.000000	0.71417	0.985000	0.45067	0.905000	0.53344	4.519000	0.60517	1.359000	0.45940	0.650000	0.86243	GAA	CDH10	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24509805	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	1.000	T
MMP23B	8510	genome.wustl.edu	37	1	1572314	1572314	+	IGR	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:1572314G>T	ENST00000356026.5	+	0	1326				CDK11B_ENST00000317673.7_Missense_Mutation_p.T583N|CDK11B_ENST00000341832.6_Missense_Mutation_p.T538N|CDK11B_ENST00000340677.5_Missense_Mutation_p.T572N|CDK11B_ENST00000407249.3_Missense_Mutation_p.T585N			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T585N(1)		large_intestine(1)	1	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	CACGACCGGGGTGTAGGCCTT	0.687																																																	1	Substitution - Missense(1)	cervix(1)											39.0	49.0	46.0					1																	1572314		2064	4190	6254	SO:0001628	intergenic_variant	984				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572314G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T585N	ENST00000356026.5	37	c.1754	CCDS30559.1	1																																																																																			CDK11B	-	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		0.687	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK11B	HGNC	protein_coding	OTTHUMT00000158492.2	G	NM_006983		1572314	-1	no_errors	ENST00000407249	ensembl	human	known	70_37	missense	SNP	1.000	T
CDK14	5218	genome.wustl.edu	37	7	90338818	90338818	+	Intron	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:90338818C>G	ENST00000380050.3	+	3	254				CDK14_ENST00000265741.3_5'UTR|CDK14_ENST00000436577.2_5'Flank|CDK14_ENST00000406263.1_5'Flank|CDK14_ENST00000496279.1_3'UTR			O94921	CDK14_HUMAN	cyclin-dependent kinase 14						cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						CAATATCTTTCTGAAAAGACA	0.448																																					GBM(83;1228 1256 8311 16577 31299)												0													63.0	60.0	61.0					7																	90338818		2203	4300	6503	SO:0001627	intron_variant	5218				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.124-17063C>G	7.37:g.90338818C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	RNA	SNP	-	NULL	ENST00000380050.3	37	NULL		7																																																																																			CDK14	-	-		0.448	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5	C	NM_012395		90338818	+1	no_errors	ENST00000496279	ensembl	human	known	70_37	rna	SNP	1.000	G
CELSR2	1952	genome.wustl.edu	37	1	109794627	109794627	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:109794627C>T	ENST00000271332.3	+	1	1987	c.1926C>T	c.(1924-1926)gtC>gtT	p.V642V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	642	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.V642V(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTCATAGTGTCATCACCTACC	0.562																																					NSCLC(158;1285 2011 34800 34852 42084)												1	Substitution - coding silent(1)	cervix(1)											222.0	198.0	206.0					1																	109794627		2203	4300	6503	SO:0001819	synonymous_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.1926C>T	1.37:g.109794627C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Y7|Q92566	Silent	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.V642	ENST00000271332.3	37	c.1926	CCDS796.1	1																																																																																			CELSR2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.562	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	C	NM_001408		109794627	+1	no_errors	ENST00000271332	ensembl	human	known	70_37	silent	SNP	1.000	T
CEP128	145508	genome.wustl.edu	37	14	81259400	81259400	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:81259400G>A	ENST00000555265.1	-	14	1639	c.1264C>T	c.(1264-1266)Cga>Tga	p.R422*	CEP128_ENST00000281129.3_Nonsense_Mutation_p.R422*			Q6ZU80	CE128_HUMAN	centrosomal protein 128kDa	422						centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|spindle pole (GO:0000922)		p.R422*(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCTTAAGTCGATCCAACATC	0.448																																																	2	Substitution - Nonsense(2)	cervix(1)|breast(1)											167.0	152.0	157.0					14																	81259400		2203	4300	6503	SO:0001587	stop_gained	145508			AK056756	CCDS32130.1	14q31.1	2014-02-20	2011-05-06	2011-05-06	ENSG00000100629	ENSG00000100629			20359	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 61"", ""chromosome 14 open reading frame 145"""	C14orf61, C14orf145		21399614	Standard	NM_152446		Approved		uc001xux.2	Q6ZU80		ENST00000555265.1:c.1264C>T	14.37:g.81259400G>A	ENSP00000451162:p.Arg422*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK52|Q86X97|Q96ML4	Nonsense_Mutation	SNP	NULL	p.R422*	ENST00000555265.1	37	c.1264	CCDS32130.1	14	.	.	.	.	.	.	.	.	.	.	G	38	7.075523	0.98048	.	.	ENSG00000100629	ENST00000281129;ENST00000555265;ENST00000393619	.	.	.	5.51	2.58	0.30949	.	0.557653	0.16862	N	0.196467	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	10.9687	0.47426	0.0:0.1374:0.6111:0.2515	.	.	.	.	X	422	.	ENSP00000281129:R422X	R	-	1	2	CEP128	80329153	1.000000	0.71417	0.497000	0.27552	0.273000	0.26683	4.557000	0.60782	0.235000	0.21160	-0.188000	0.12872	CGA	CEP128	-	NULL		0.448	CEP128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP128	HGNC	protein_coding	OTTHUMT00000413415.1	G	NM_152446		81259400	-1	no_errors	ENST00000281129	ensembl	human	known	70_37	nonsense	SNP	0.997	A
CERK	64781	genome.wustl.edu	37	22	47107008	47107008	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:47107008C>T	ENST00000216264.8	-	5	656	c.544G>A	c.(544-546)Gag>Aag	p.E182K	CERK_ENST00000541677.1_Intron	NM_022766.5	NP_073603.2	Q8TCT0	CERK1_HUMAN	ceramide kinase	182	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lipid phosphorylation (GO:0046834)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|magnesium ion binding (GO:0000287)|NAD+ kinase activity (GO:0003951)	p.E182K(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	20		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATGTTAATCTCATACAGAGTC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											195.0	167.0	176.0					22																	47107008		2203	4300	6503	SO:0001583	missense	64781			AB079066	CCDS14077.1	22q13.31	2008-06-10			ENSG00000100422	ENSG00000100422			19256	protein-coding gene	gene with protein product		610307				11956206, 11258795	Standard	NM_022766		Approved	hCERK, FLJ23239, dA59H18.3, DKFZp434E0211, FLJ21430, KIAA1646, LK4, dA59H18.2	uc003bia.3	Q8TCT0	OTTHUMG00000150395	ENST00000216264.8:c.544G>A	22.37:g.47107008C>T	ENSP00000216264:p.Glu182Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNT4|A8K611|Q6NX59|Q9BYB3|Q9UGE5	Missense_Mutation	SNP	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom	p.E182K	ENST00000216264.8	37	c.544	CCDS14077.1	22	.	.	.	.	.	.	.	.	.	.	C	11.39	1.625076	0.28889	.	.	ENSG00000100422	ENST00000216264	T	0.25085	1.82	4.88	4.88	0.63580	Diacylglycerol kinase, catalytic domain (3);	0.323223	0.31233	N	0.008008	T	0.21347	0.0514	L	0.38953	1.18	0.80722	D	1	B	0.10296	0.003	B	0.15484	0.013	T	0.04635	-1.0937	10	0.17832	T	0.49	-20.2226	15.5398	0.76035	0.0:1.0:0.0:0.0	.	182	Q8TCT0	CERK1_HUMAN	K	182	ENSP00000216264:E182K	ENSP00000216264:E182K	E	-	1	0	CERK	45485672	1.000000	0.71417	0.779000	0.31741	0.128000	0.20619	3.825000	0.55730	2.267000	0.75376	0.609000	0.83330	GAG	CERK	-	pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom		0.413	CERK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CERK	HGNC	protein_coding	OTTHUMT00000317924.2	C	NM_022766		47107008	-1	no_errors	ENST00000216264	ensembl	human	known	70_37	missense	SNP	0.987	T
CH25H	9023	genome.wustl.edu	37	10	90967017	90967017	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:90967017G>A	ENST00000371852.2	-	1	54	c.33C>T	c.(31-33)gtC>gtT	p.V11V		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	11					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|fatty acid biosynthetic process (GO:0006633)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	cholesterol 25-hydroxylase activity (GO:0001567)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		AGCTGCAAAGGACCTGGGGGT	0.632																																																	0													14.0	17.0	16.0					10																	90967017		2200	4298	6498	SO:0001819	synonymous_variant	9023			AF059212	CCDS7400.1	10q23	2013-03-04			ENSG00000138135	ENSG00000138135	1.14.99.38	"""Fatty acid hydroxylase domain containing"""	1907	protein-coding gene	gene with protein product		604551				9852097	Standard	NM_003956		Approved		uc001kfz.3	O95992	OTTHUMG00000018705	ENST00000371852.2:c.33C>T	10.37:g.90967017G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBY3	Silent	SNP	pfam_Fatty_acid_hydroxylase	p.V11	ENST00000371852.2	37	c.33	CCDS7400.1	10																																																																																			CH25H	-	NULL		0.632	CH25H-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CH25H	HGNC	protein_coding	OTTHUMT00000049291.1	G	NM_003956		90967017	-1	no_errors	ENST00000371852	ensembl	human	known	70_37	silent	SNP	0.000	A
CHD3	1107	genome.wustl.edu	37	17	7804195	7804195	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:7804195C>T	ENST00000330494.7	+	19	3154	c.3004C>T	c.(3004-3006)Cga>Tga	p.R1002*	CHD3_ENST00000380358.4_Nonsense_Mutation_p.R1061*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.R1002*	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1002					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.R1002*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CATCCTGACTCGAAATTTTGA	0.413																																																	1	Substitution - Nonsense(1)	cervix(1)											94.0	90.0	91.0					17																	7804195		2203	4300	6503	SO:0001587	stop_gained	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.3004C>T	17.37:g.7804195C>T	ENSP00000332628:p.Arg1002*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Nonsense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R1002*	ENST00000330494.7	37	c.3004	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	C	40	7.961639	0.98583	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	.	.	.	4.95	4.95	0.65309	.	0.000000	0.37393	N	0.002109	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.0231	15.1501	0.72689	0.1414:0.8586:0.0:0.0	.	.	.	.	X	1061;1002;1002	.	ENSP00000332628:R1002X	R	+	1	2	CHD3	7744920	0.526000	0.26298	1.000000	0.80357	0.986000	0.74619	1.227000	0.32576	2.744000	0.94065	0.561000	0.74099	CGA	CHD3	-	pfam_SNF2_N		0.413	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	C	NM_001005273		7804195	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CKAP5	9793	genome.wustl.edu	37	11	46780913	46780913	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46780913C>G	ENST00000529230.1	-	34	4520	c.4474G>C	c.(4474-4476)Gag>Cag	p.E1492Q	CKAP5_ENST00000312055.5_Missense_Mutation_p.E1492Q|CKAP5_ENST00000354558.3_Missense_Mutation_p.E1492Q|CKAP5_ENST00000415402.1_Missense_Mutation_p.E1492Q|SNORD67_ENST00000516618.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1492					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.E1492Q(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTGTCATTCTCAATCTCATCT	0.498																																					Ovarian(4;85 273 2202 4844 13323)												1	Substitution - Missense(1)	cervix(1)											155.0	145.0	148.0					11																	46780913		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4474G>C	11.37:g.46780913C>G	ENSP00000432768:p.Glu1492Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.E1492Q	ENST00000529230.1	37	c.4474	CCDS31477.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.41|19.41	3.822036|3.822036	0.71028|0.71028	.|.	.|.	ENSG00000175216|ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876|ENST00000527333	T;T;T;T|.	0.45668|.	0.89;0.89;0.89;0.89|.	5.53|5.53	5.53|5.53	0.82687|0.82687	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.044760|.	0.85682|.	N|.	0.000000|.	T|.	0.65165|.	0.2665|.	L|L	0.34521|0.34521	1.04|1.04	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.999;0.996;0.993|.	D;D;D|.	0.78314|.	0.973;0.991;0.979|.	T|.	0.58999|.	-0.7536|.	10|.	0.17369|.	T|.	0.5|.	-3.1971|-3.1971	19.8389|19.8389	0.96675|0.96675	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1492;1492;1492|.	Q14008-3;Q14008-2;Q14008|.	.;.;CKAP5_HUMAN|.	Q|S	1492;1492;1492;1492;223|48	ENSP00000432768:E1492Q;ENSP00000395302:E1492Q;ENSP00000310227:E1492Q;ENSP00000346566:E1492Q|.	ENSP00000310227:E1492Q|.	E|X	-|-	1|2	0|2	CKAP5|CKAP5	46737489|46737489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.568000|7.568000	0.82369|0.82369	2.755000|2.755000	0.94549|0.94549	0.650000|0.650000	0.86243|0.86243	GAG|TGA	CKAP5	-	superfamily_ARM-type_fold		0.498	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	C	NM_014756		46780913	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	G
CKAP5	9793	genome.wustl.edu	37	11	46784554	46784554	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46784554G>C	ENST00000529230.1	-	30	3909	c.3863C>G	c.(3862-3864)tCt>tGt	p.S1288C	CKAP5_ENST00000312055.5_Missense_Mutation_p.S1288C|CKAP5_ENST00000354558.3_Missense_Mutation_p.S1288C|CKAP5_ENST00000415402.1_Missense_Mutation_p.S1288C|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1288					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.S1288C(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GATGAAGGAAGATGCTTCATT	0.408																																					Ovarian(4;85 273 2202 4844 13323)												1	Substitution - Missense(1)	cervix(1)											138.0	129.0	132.0					11																	46784554		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3863C>G	11.37:g.46784554G>C	ENSP00000432768:p.Ser1288Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.S1288C	ENST00000529230.1	37	c.3863	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	16.87	3.242188	0.58995	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.252507	0.46442	D	0.000286	T	0.57257	0.2041	M	0.75777	2.31	0.44234	D	0.997074	P;P;P	0.49696	0.739;0.91;0.927	P;B;P	0.49887	0.625;0.421;0.557	T	0.59873	-0.7372	10	0.54805	T	0.06	-4.6002	19.8052	0.96529	0.0:0.0:1.0:0.0	.	1288;1288;1288	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	C	1288;1288;1288;1288;11	ENSP00000432768:S1288C;ENSP00000395302:S1288C;ENSP00000310227:S1288C;ENSP00000346566:S1288C	ENSP00000310227:S1288C	S	-	2	0	CKAP5	46741130	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.283000	0.65621	2.692000	0.91855	0.650000	0.86243	TCT	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.408	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46784554	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	0.882	C
CKAP5	9793	genome.wustl.edu	37	11	46784576	46784576	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46784576G>A	ENST00000529230.1	-	30	3887	c.3841C>T	c.(3841-3843)Cat>Tat	p.H1281Y	CKAP5_ENST00000312055.5_Missense_Mutation_p.H1281Y|CKAP5_ENST00000354558.3_Missense_Mutation_p.H1281Y|CKAP5_ENST00000415402.1_Missense_Mutation_p.H1281Y|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1281					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)		p.H1281Y(1)		breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAGTAAGATGATATTCTTCT	0.423																																					Ovarian(4;85 273 2202 4844 13323)												1	Substitution - Missense(1)	cervix(1)											151.0	147.0	148.0					11																	46784576		2201	4299	6500	SO:0001583	missense	9793				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.3841C>T	11.37:g.46784576G>A	ENSP00000432768:p.His1281Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H1281Y	ENST00000529230.1	37	c.3841	CCDS31477.1	11	.	.	.	.	.	.	.	.	.	.	G	20.0	3.930809	0.73327	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558;ENST00000526876	T;T;T;T	0.45668	0.89;0.89;0.89;0.89	5.69	5.69	0.88448	Armadillo-like helical (1);Armadillo-type fold (1);CLASP N-terminal domain (1);	0.042041	0.85682	D	0.000000	T	0.49626	0.1568	L	0.48642	1.525	0.58432	D	0.999995	D;P;P	0.57899	0.981;0.886;0.906	P;B;P	0.50490	0.642;0.359;0.492	T	0.37731	-0.9693	10	0.39692	T	0.17	-6.8846	19.8052	0.96529	0.0:0.0:1.0:0.0	.	1281;1281;1281	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	Y	1281;1281;1281;1281;4	ENSP00000432768:H1281Y;ENSP00000395302:H1281Y;ENSP00000310227:H1281Y;ENSP00000346566:H1281Y	ENSP00000310227:H1281Y	H	-	1	0	CKAP5	46741152	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.062000	0.89475	2.692000	0.91855	0.650000	0.86243	CAT	CKAP5	-	pfam_CLASP_N_dom,superfamily_ARM-type_fold		0.423	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP5	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46784576	-1	no_errors	ENST00000415402	ensembl	human	known	70_37	missense	SNP	1.000	A
CLASP1	23332	genome.wustl.edu	37	2	122159197	122159197	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:122159197C>T	ENST00000263710.4	-	28	3177	c.2788G>A	c.(2788-2790)Gat>Aat	p.D930N	CLASP1_ENST00000409078.3_Missense_Mutation_p.D902N|CLASP1_ENST00000545861.1_Missense_Mutation_p.D676N|CLASP1_ENST00000541859.1_Missense_Mutation_p.D686N|CLASP1_ENST00000541377.1_Missense_Mutation_p.D908N|CLASP1_ENST00000397587.3_Missense_Mutation_p.D909N|CLASP1_ENST00000455322.2_Missense_Mutation_p.D925N	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	930					axon guidance (GO:0007411)|cell division (GO:0051301)|establishment of spindle orientation (GO:0051294)|establishment or maintenance of cell polarity (GO:0007163)|exit from mitosis (GO:0010458)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|microtubule organizing center organization (GO:0031023)|mitotic cell cycle (GO:0000278)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)	cell cortex (GO:0005938)|centrosomal corona (GO:0031592)|centrosome (GO:0005813)|cortical microtubule cytoskeleton (GO:0030981)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|kinetochore (GO:0000776)|kinetochore microtubule (GO:0005828)|membrane (GO:0016020)|spindle microtubule (GO:0005876)	kinetochore binding (GO:0043515)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)	p.D930N(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGTAAATCATCCTTATGAATT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											106.0	104.0	105.0					2																	122159197		1814	4090	5904	SO:0001583	missense	23332			AB014522		2q14.2-q14.3	2013-01-18			ENSG00000074054	ENSG00000074054			17088	protein-coding gene	gene with protein product	"""multiple asters 1"""	605852				9734811, 10899121, 16914514	Standard	NM_015282		Approved	KIAA0622, MAST1	uc002tnc.3	Q7Z460	OTTHUMG00000153331	ENST00000263710.4:c.2788G>A	2.37:g.122159197C>T	ENSP00000263710:p.Asp930Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLX3|O75118|Q2KHQ9|Q5H9P0|Q8N5B8|Q9BQT5	Missense_Mutation	SNP	pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.D930N	ENST00000263710.4	37	c.2788		2	.	.	.	.	.	.	.	.	.	.	C	16.70	3.195489	0.58126	.	.	ENSG00000074054	ENST00000263710;ENST00000455322;ENST00000397587;ENST00000541377;ENST00000541859;ENST00000409078;ENST00000545861	T;T;T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16;-0.16;-0.16	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.086901	0.85682	D	0.000000	T	0.57651	0.2068	N	0.11927	0.2	0.49687	D	0.999813	P;B;P	0.46512	0.684;0.158;0.879	B;B;P	0.52031	0.346;0.047;0.688	T	0.53472	-0.8434	10	0.19590	T	0.45	-4.5626	20.0006	0.97406	0.0:1.0:0.0:0.0	.	902;909;930	E7EUA5;F5GWS0;Q7Z460	.;.;CLAP1_HUMAN	N	930;925;909;908;686;902;676	ENSP00000263710:D930N;ENSP00000389372:D925N;ENSP00000380717:D909N;ENSP00000441625:D908N;ENSP00000441770:D686N;ENSP00000386442:D902N;ENSP00000438620:D676N	ENSP00000263710:D930N	D	-	1	0	CLASP1	121875667	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.448000	0.80631	2.734000	0.93682	0.591000	0.81541	GAT	CLASP1	-	superfamily_ARM-type_fold		0.338	CLASP1-201	KNOWN	basic	protein_coding	CLASP1	HGNC	protein_coding		C	NM_015282		122159197	-1	no_errors	ENST00000263710	ensembl	human	known	70_37	missense	SNP	1.000	T
CLDN22	53842	genome.wustl.edu	37	4	184240979	184240979	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:184240979G>A	ENST00000323319.5	-	1	948	c.393C>T	c.(391-393)gtC>gtT	p.V131V	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	131					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)	p.V131V(1)		cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CCAGGGCTGTGACTCCCGAGG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											47.0	48.0	47.0					4																	184240979		1568	3582	5150	SO:0001819	synonymous_variant	53842			AK098064	CCDS43286.1	4q35.1	2010-08-05			ENSG00000177300	ENSG00000177300		"""Claudins"""	2044	protein-coding gene	gene with protein product							Standard	NM_001111319		Approved	CLDN21	uc010isa.1	Q8N7P3	OTTHUMG00000160627	ENST00000323319.5:c.393C>T	4.37:g.184240979G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.V131	ENST00000323319.5	37	c.393	CCDS43286.1	4																																																																																			CLDN22	-	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin		0.572	CLDN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN22	HGNC	protein_coding	OTTHUMT00000361493.1	G			184240979	-1	no_errors	ENST00000323319	ensembl	human	known	70_37	silent	SNP	0.008	A
CMYA5	202333	genome.wustl.edu	37	5	79025923	79025923	+	Silent	SNP	A	A	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:79025923A>G	ENST00000446378.2	+	2	1366	c.1335A>G	c.(1333-1335)gcA>gcG	p.A445A		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	445				A -> V (in Ref. 2; CAH10406). {ECO:0000305}.	negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.A445A(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GTCTGGCAGCATCTACCCAGG	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											83.0	84.0	84.0					5																	79025923		2203	4300	6503	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.1335A>G	5.37:g.79025923A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.A445	ENST00000446378.2	37	c.1335	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.507	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	A	NM_153610		79025923	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.000	G
CNGB1	1258	genome.wustl.edu	37	16	57953058	57953058	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:57953058G>C	ENST00000251102.8	-	20	1962	c.1902C>G	c.(1900-1902)ttC>ttG	p.F634L	CNGB1_ENST00000564448.1_Missense_Mutation_p.F628L	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	634					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)	p.F634L(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGCGGTGTTTGAACTTGCAGC	0.572																																					Colon(156;1293 1853 16336 28962 38659)												1	Substitution - Missense(1)	cervix(1)											107.0	110.0	109.0					16																	57953058		2001	4181	6182	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1902C>G	16.37:g.57953058G>C	ENSP00000251102:p.Phe634Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F634L	ENST00000251102.8	37	c.1902	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800959	0.50315	.	.	ENSG00000070729	ENST00000251102	D	0.96856	-4.15	4.53	4.53	0.55603	.	0.105342	0.42420	D	0.000719	D	0.93252	0.7850	L	0.50333	1.59	0.80722	D	1	B;B	0.24823	0.002;0.112	B;B	0.26864	0.006;0.074	D	0.89393	0.3690	10	0.25751	T	0.34	.	10.0448	0.42180	0.0937:0.0:0.9063:0.0	.	6;634	Q14028-2;Q14028	.;CNGB1_HUMAN	L	634	ENSP00000251102:F634L	ENSP00000251102:F634L	F	-	3	2	CNGB1	56510559	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	4.691000	0.61738	2.524000	0.85096	0.561000	0.74099	TTC	CNGB1	-	NULL		0.572	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	G	NM_001297		57953058	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	1.000	C
COASY	80347	genome.wustl.edu	37	17	40714664	40714664	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:40714664C>T	ENST00000393818.2	+	1	480	c.24C>T	c.(22-24)ctC>ctT	p.L8L	COASY_ENST00000421097.2_Silent_p.L8L|RP11-400F19.8_ENST00000585572.1_RNA|COASY_ENST00000420359.1_Silent_p.L8L|COASY_ENST00000590958.1_Silent_p.L37L|COASY_ENST00000449624.1_Intron	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	8					cell death (GO:0008219)|coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|dephospho-CoA kinase activity (GO:0004140)|pantetheine-phosphate adenylyltransferase activity (GO:0004595)	p.L8L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		GGTCGGGTCTCCTGGTGCTGA	0.677																																																	1	Substitution - coding silent(1)	cervix(1)											30.0	33.0	32.0					17																	40714664		2203	4298	6501	SO:0001819	synonymous_variant	80347			AF453478	CCDS11429.1, CCDS45685.1	17q12-q21	2010-04-30	2010-04-30			ENSG00000068120	2.7.7.3		29932	protein-coding gene	gene with protein product		609855	"""Coenzyme A synthase"""			11923312, 11980892	Standard	NM_025233		Approved	DPCK, NBP, CoASY, PPAT	uc010cyj.4	Q13057		ENST00000393818.2:c.24C>T	17.37:g.40714664C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA78|B4DLU0|Q6GS23|Q8NBM7|Q8NEW1|Q8WXD4|Q9NRM3	Silent	SNP	pfam_Depp_CoAkinase,pfam_Cytidylyltransf,tigrfam_Depp_CoAkinase	p.L37	ENST00000393818.2	37	c.111	CCDS11429.1	17																																																																																			COASY	-	NULL		0.677	COASY-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COASY	HGNC	protein_coding	OTTHUMT00000450409.1	C	NM_025233		40714664	+1	no_errors	ENST00000590958	ensembl	human	known	70_37	silent	SNP	1.000	T
COL3A1	1281	genome.wustl.edu	37	2	189868143	189868143	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:189868143C>T	ENST00000304636.3	+	37	2730	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	854	Triple-helical region.				aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)	p.P854S(1)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	ATAGGGTCCTCCTGGTCCCCA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											96.0	96.0	96.0					2																	189868143		2203	4300	6503	SO:0001583	missense	1281			X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.2560C>T	2.37:g.189868143C>T	ENSP00000304408:p.Pro854Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C	p.P854S	ENST00000304636.3	37	c.2560	CCDS2297.1	2	.	.	.	.	.	.	.	.	.	.	C	11.75	1.732550	0.30684	.	.	ENSG00000168542	ENST00000304636	D	0.98649	-5.05	5.61	4.74	0.60224	.	0.000000	0.51477	D	0.000094	D	0.96975	0.9012	M	0.73372	2.23	0.80722	D	1	B	0.17852	0.024	B	0.10450	0.005	D	0.95257	0.8365	10	0.11182	T	0.66	.	11.5806	0.50889	0.0:0.8572:0.0:0.1428	.	854	P02461	CO3A1_HUMAN	S	854	ENSP00000304408:P854S	ENSP00000304408:P854S	P	+	1	0	COL3A1	189576388	0.190000	0.23276	0.997000	0.53966	0.962000	0.63368	0.310000	0.19356	1.380000	0.46344	0.557000	0.71058	CCT	COL3A1	-	NULL		0.383	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL3A1	HGNC	protein_coding	OTTHUMT00000255899.3	C	NM_000090		189868143	+1	no_errors	ENST00000304636	ensembl	human	known	70_37	missense	SNP	0.979	T
COL5A1	1289	genome.wustl.edu	37	9	137734054	137734054	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:137734054G>A	ENST00000371817.3	+	66	5836	c.5422G>A	c.(5422-5424)Gag>Aag	p.E1808K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1808	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				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)	p.E1808K(1)		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)		CCCCAAAGTGGAGCAGGTGCC	0.547																																																	1	Substitution - Missense(1)	cervix(1)											129.0	119.0	123.0					9																	137734054		2203	4300	6503	SO:0001583	missense	1289			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.5422G>A	9.37:g.137734054G>A	ENSP00000360882:p.Glu1808Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E1808K	ENST00000371817.3	37	c.5422	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912216	0.72983	.	.	ENSG00000130635	ENST00000371817;ENST00000355306	T	0.73575	-0.76	4.72	4.72	0.59763	Fibrillar collagen, C-terminal (4);	0.000000	0.64402	U	0.000002	T	0.77618	0.4157	M	0.81802	2.56	0.51482	D	0.999921	P	0.38280	0.625	B	0.38156	0.266	T	0.81125	-0.1075	10	0.51188	T	0.08	.	17.6595	0.88188	0.0:0.0:1.0:0.0	.	1808	P20908	CO5A1_HUMAN	K	1808;345	ENSP00000360882:E1808K	ENSP00000347458:E345K	E	+	1	0	COL5A1	136873875	1.000000	0.71417	0.993000	0.49108	0.970000	0.65996	7.588000	0.82629	2.174000	0.68829	0.563000	0.77884	GAG	COL5A1	-	pfam_Fib_collagen_C,smart_Fib_collagen_C		0.547	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137734054	+1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	1.000	A
CORIN	10699	genome.wustl.edu	37	4	47746544	47746544	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:47746544G>A	ENST00000273857.4	-	5	673	c.674C>T	c.(673-675)tCa>tTa	p.S225L	CORIN_ENST00000502252.1_Missense_Mutation_p.S158L|CORIN_ENST00000505909.1_Missense_Mutation_p.S225L|CORIN_ENST00000504584.1_Missense_Mutation_p.S225L|CORIN_ENST00000508498.1_Missense_Mutation_p.S86L	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	225	FZ 1. {ECO:0000255|PROSITE- ProRule:PRU00090}.				female pregnancy (GO:0007565)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by atrial natriuretic peptide (GO:0003050)	cell surface (GO:0009986)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)	p.S225L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CCCCAGGACTGATTCACAGCC	0.438																																																	1	Substitution - Missense(1)	cervix(1)											151.0	164.0	159.0					4																	47746544		2203	4300	6503	SO:0001583	missense	10699			AF133845	CCDS3477.1, CCDS63958.1, CCDS75122.1	4p13-p12	2011-08-31	2005-08-17		ENSG00000145244	ENSG00000145244		"""Serine peptidases / Transmembrane"""	19012	protein-coding gene	gene with protein product		605236	"""corin, serine protease"""			10329693	Standard	NM_006587		Approved	PRSC, CRN, ATC2, Lrp4, TMPRSS10	uc003gxm.3	Q9Y5Q5	OTTHUMG00000099441	ENST00000273857.4:c.674C>T	4.37:g.47746544G>A	ENSP00000273857:p.Ser225Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBE3|Q2TBD2|Q4W5E5|Q4W5G6|Q9UHY2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S225L	ENST00000273857.4	37	c.674	CCDS3477.1	4	.	.	.	.	.	.	.	.	.	.	G	24.3	4.518090	0.85495	.	.	ENSG00000145244	ENST00000273857;ENST00000508498;ENST00000502252;ENST00000505909;ENST00000504584	T;T;T;T;T	0.76316	-1.01;-1.01;-1.01;-1.01;-1.01	5.26	5.26	0.73747	Frizzled domain (5);	0.235446	0.35235	N	0.003342	D	0.84543	0.5495	M	0.83384	2.64	0.44754	D	0.997755	P;P;P;P;P	0.45428	0.801;0.801;0.65;0.51;0.858	B;B;P;B;P	0.48334	0.322;0.419;0.574;0.375;0.505	D	0.86116	0.1565	10	0.49607	T	0.09	.	18.8441	0.92198	0.0:0.0:1.0:0.0	.	225;225;158;86;225	B7Z4R1;B4E2W9;B4E1Y7;B4DZA3;Q9Y5Q5	.;.;.;.;CORIN_HUMAN	L	225;86;158;225;225	ENSP00000273857:S225L;ENSP00000425597:S86L;ENSP00000424212:S158L;ENSP00000425401:S225L;ENSP00000423216:S225L	ENSP00000273857:S225L	S	-	2	0	CORIN	47441301	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.135000	0.77276	2.427000	0.82271	0.491000	0.48974	TCA	CORIN	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom		0.438	CORIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORIN	HGNC	protein_coding	OTTHUMT00000216906.2	G			47746544	-1	no_errors	ENST00000273857	ensembl	human	known	70_37	missense	SNP	1.000	A
CSNK1G1	53944	genome.wustl.edu	37	15	64496789	64496789	+	Splice_Site	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:64496789C>G	ENST00000303052.7	-	9	1274		c.e9-1		CSNK1G1_ENST00000607537.1_Splice_Site|CSNK1G1_ENST00000303032.6_Splice_Site|CTD-2116N17.1_ENST00000606793.1_Splice_Site	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1						Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.?(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						GCCATCTCCTCTGTTAGGAAA	0.438																																																	2	Unknown(2)	cervix(2)											88.0	83.0	85.0					15																	64496789		2203	4300	6503	SO:0001630	splice_region_variant	53944			AB042562	CCDS10192.2	15q22.1-q22.31	2013-01-17			ENSG00000169118	ENSG00000169118			2454	protein-coding gene	gene with protein product		606274				11124537	Standard	NM_022048		Approved	CK1gamma1	uc002anf.3	Q9HCP0	OTTHUMG00000133019	ENST00000303052.7:c.851-1G>C	15.37:g.64496789C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPH1|Q96AE9|Q9HCP1	Splice_Site	SNP	-	e8-1	ENST00000303052.7	37	c.851-1	CCDS10192.2	15	.	.	.	.	.	.	.	.	.	.	C	27.3	4.814415	0.90790	.	.	ENSG00000169118	ENST00000303052;ENST00000447727;ENST00000303032	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.773	0.96379	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CSNK1G1	62283842	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	7.818000	0.86416	2.677000	0.91161	0.655000	0.94253	.	CSNK1G1	-	-		0.438	CSNK1G1-001	KNOWN	basic|CCDS	protein_coding	CSNK1G1	HGNC	protein_coding	OTTHUMT00000256605.1	C	NM_022048	Intron	64496789	-1	no_errors	ENST00000303052	ensembl	human	known	70_37	splice_site	SNP	1.000	G
CTNNBIP1	56998	genome.wustl.edu	37	1	9932074	9932074	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:9932074G>A	ENST00000377263.1	-	4	360	c.49C>T	c.(49-51)Cag>Tag	p.Q17*	CTNNBIP1_ENST00000377256.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000400904.3_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000537447.1_Nonsense_Mutation_p.Q17*|CTNNBIP1_ENST00000377258.1_Nonsense_Mutation_p.Q17*	NM_001012329.1|NM_020248.2	NP_001012329.1|NP_064633.1	Q9NSA3	CNBP1_HUMAN	catenin, beta interacting protein 1	17					anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of DNA binding (GO:0043392)|negative regulation of mesenchymal cell proliferation (GO:0072201)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription initiation from RNA polymerase II promoter (GO:0060633)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of osteoblast differentiation (GO:0045669)|regulation of vascular permeability involved in acute inflammatory response (GO:0002528)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)	p.Q17*(1)		cervix(1)|large_intestine(1)|lung(1)	3		all_lung(284;1.82e-05)|Lung NSC(185;3.08e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;7.32e-08)|COAD - Colon adenocarcinoma(227;1.73e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000912)|KIRC - Kidney renal clear cell carcinoma(229;0.00112)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTTCTGCTGAATGTACATC	0.627																																																	1	Substitution - Nonsense(1)	cervix(1)											121.0	107.0	112.0					1																	9932074		2203	4300	6503	SO:0001587	stop_gained	56998			AB021262	CCDS106.1	1p36.22	2013-09-19	2001-11-29		ENSG00000178585	ENSG00000178585			16913	protein-coding gene	gene with protein product	"""beta-catenin-interacting protein ICAT"", ""inhibitor of beta-catenin and Tcf-4"""	607758	"""catenin, beta-interacting protein 1"""			10898789	Standard	XM_006710779		Approved	ICAT, MGC15093	uc001aql.1	Q9NSA3	OTTHUMG00000001796	ENST00000377263.1:c.49C>T	1.37:g.9932074G>A	ENSP00000366474:p.Gln17*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T4V2	Nonsense_Mutation	SNP	pfam_ICAT,superfamily_ICAT	p.Q17*	ENST00000377263.1	37	c.49	CCDS106.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.876079	0.98986	.	.	ENSG00000178585	ENST00000377263;ENST00000537447;ENST00000400904;ENST00000377258;ENST00000377256	.	.	.	5.23	5.23	0.72850	.	0.000000	0.85682	U	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-20.3223	17.5659	0.87919	0.0:0.0:1.0:0.0	.	.	.	.	X	17	.	.	Q	-	1	0	CTNNBIP1	9854661	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.011000	0.93618	2.451000	0.82905	0.484000	0.47621	CAG	CTNNBIP1	-	pfam_ICAT,superfamily_ICAT		0.627	CTNNBIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNBIP1	HGNC	protein_coding	OTTHUMT00000005012.1	G	NM_020248		9932074	-1	no_errors	ENST00000377256	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CTSK	1513	genome.wustl.edu	37	1	150772128	150772128	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:150772128C>G	ENST00000271651.3	-	6	786	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_000396.3	NP_000387.1	P43235	CATK_HUMAN	cathepsin K	226					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.E226Q(1)		cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCGGGGATCTCTCTGTACCCT	0.502																																																	1	Substitution - Missense(1)	cervix(1)											156.0	146.0	150.0					1																	150772128		2203	4300	6503	SO:0001583	missense	1513			BC016058	CCDS969.1	1q21	2008-02-05	2006-12-05		ENSG00000143387	ENSG00000143387		"""Cathepsins"""	2536	protein-coding gene	gene with protein product		601105	"""cathepsin K (pycnodysostosis)"""	CTSO2, CTSO, PYCD		7818555	Standard	NM_000396		Approved	PKND	uc001evp.2	P43235	OTTHUMG00000035008	ENST00000271651.3:c.676G>C	1.37:g.150772128C>G	ENSP00000271651:p.Glu226Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,pfam_Peptidase_C1B,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E226Q	ENST00000271651.3	37	c.676	CCDS969.1	1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254535	0.80135	.	.	ENSG00000143387	ENST00000271651	D	0.87256	-2.23	6.04	6.04	0.98038	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.70996	0.3288	N	0.05619	-0.005	0.80722	D	1	P	0.49090	0.919	B	0.41466	0.358	T	0.78507	-0.2177	10	0.52906	T	0.07	.	18.0887	0.89466	0.0:1.0:0.0:0.0	.	226	P43235	CATK_HUMAN	Q	226	ENSP00000271651:E226Q	ENSP00000271651:E226Q	E	-	1	0	CTSK	149038752	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	3.976000	0.56867	2.873000	0.98535	0.563000	0.77884	GAG	CTSK	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.502	CTSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSK	HGNC	protein_coding	OTTHUMT00000084732.1	C	NM_000396		150772128	-1	no_errors	ENST00000271651	ensembl	human	known	70_37	missense	SNP	1.000	G
CTSO	1519	genome.wustl.edu	37	4	156850795	156850795	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:156850795T>A	ENST00000433477.3	-	6	806	c.737A>T	c.(736-738)gAt>gTt	p.D246V		NM_001334.2	NP_001325.1	P43235	CATK_HUMAN	cathepsin O	250					bone resorption (GO:0045453)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|intramembranous ossification (GO:0001957)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|fibronectin binding (GO:0001968)|proteoglycan binding (GO:0043394)	p.D246V(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		GCTCACTGCATCTACTATGAC	0.393																																					Pancreas(148;2303 2598 8989 35298)												1	Substitution - Missense(1)	cervix(1)											114.0	107.0	109.0					4																	156850795		2203	4300	6503	SO:0001583	missense	1519			X77383	CCDS3794.1	4q32.1	2012-10-03			ENSG00000256043	ENSG00000256043		"""Cathepsins"""	2542	protein-coding gene	gene with protein product		600550		CTSO1		9790772	Standard	NM_001334		Approved		uc003ipg.3	P43234	OTTHUMG00000161942	ENST00000433477.3:c.737A>T	4.37:g.156850795T>A	ENSP00000414904:p.Asp246Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHS6	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.D246V	ENST00000433477.3	37	c.737	CCDS3794.1	4	.	.	.	.	.	.	.	.	.	.	T	26.0	4.690824	0.88735	.	.	ENSG00000256043	ENST00000433477	D	0.88046	-2.33	5.68	5.68	0.88126	Peptidase C1A, papain C-terminal (2);	0.096975	0.64402	D	0.000001	D	0.94440	0.8211	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.95351	0.8447	10	0.87932	D	0	.	15.9114	0.79475	0.0:0.0:0.0:1.0	.	246	P43234	CATO_HUMAN	V	246	ENSP00000414904:D246V	ENSP00000281527:D246V	D	-	2	0	CTSO	157070245	1.000000	0.71417	0.948000	0.38648	0.996000	0.88848	7.634000	0.83273	2.163000	0.67991	0.533000	0.62120	GAT	CTSO	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.393	CTSO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSO	HGNC	protein_coding	OTTHUMT00000366469.1	T	NM_001334		156850795	-1	no_errors	ENST00000433477	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP11B2	1585	genome.wustl.edu	37	8	143995805	143995805	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:143995805C>A	ENST00000323110.2	-	5	831	c.829G>T	c.(829-831)Gaa>Taa	p.E277*		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	277					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|mineralocorticoid biosynthetic process (GO:0006705)|potassium ion homeostasis (GO:0055075)|regulation of blood volume by renal aldosterone (GO:0002017)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	corticosterone 18-monooxygenase activity (GO:0047783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)	p.E277*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Eplerenone(DB00700)|Etomidate(DB00292)|Hydrocortisone(DB00741)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Spironolactone(DB00421)	AAGGCCAGTTCCTGGTAGATT	0.557									Familial Hyperaldosteronism type I																																								1	Substitution - Nonsense(1)	cervix(1)											118.0	103.0	108.0					8																	143995805		2203	4300	6503	SO:0001587	stop_gained	1585	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	X54741	CCDS6393.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000179142	ENSG00000179142	1.14.15.4	"""Cytochrome P450s"""	2592	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	124080	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 2"""	CYP11B		1303253	Standard	NM_000498		Approved	CYP11BL, CPN2, P-450C18, P450aldo, ALDOS	uc003yxk.1	P19099	OTTHUMG00000160254	ENST00000323110.2:c.829G>T	8.37:g.143995805C>A	ENSP00000325822:p.Glu277*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBE4|Q16726	Nonsense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.E277*	ENST00000323110.2	37	c.829	CCDS6393.1	8	.	.	.	.	.	.	.	.	.	.	.	18.75	3.690565	0.68271	.	.	ENSG00000179142	ENST00000323110	.	.	.	3.96	3.05	0.35203	.	0.000000	0.48767	D	0.000179	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	.	11.1123	0.48241	0.0:0.8109:0.1891:0.0	.	.	.	.	X	277	.	ENSP00000325822:E277X	E	-	1	0	CYP11B2	143992807	0.923000	0.31300	0.143000	0.22291	0.009000	0.06853	0.296000	0.19083	0.835000	0.34877	0.462000	0.41574	GAA	CYP11B2	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.557	CYP11B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B2	HGNC	protein_coding	OTTHUMT00000359904.1	C			143995805	-1	no_errors	ENST00000323110	ensembl	human	known	70_37	nonsense	SNP	0.633	A
CYP21A2	1589	genome.wustl.edu	37	6	32007219	32007219	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:32007219C>T	ENST00000418967.2	+	4	692	c.534C>T	c.(532-534)ttC>ttT	p.F178F	CYP21A2_ENST00000435122.2_Silent_p.F148F	NM_000500.7	NP_000491.4	P08686	CP21A_HUMAN	cytochrome P450, family 21, subfamily A, polypeptide 2	177			G -> A (in AH3; dbSNP:rs72552751). {ECO:0000269|PubMed:10364682}.		glucocorticoid biosynthetic process (GO:0006704)|mineralocorticoid biosynthetic process (GO:0006705)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 21-monooxygenase activity (GO:0004509)|steroid binding (GO:0005496)|steroid hydroxylase activity (GO:0008395)	p.F178F(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11					Ketoconazole(DB01026)	ACCTCACCTTCGGAGACAAGA	0.587																																					Melanoma(174;1669 1998 3915 34700 46447)												1	Substitution - coding silent(1)	cervix(1)											53.0	47.0	49.0					6																	32007219		2202	4298	6500	SO:0001819	synonymous_variant	1589			X58906	CCDS4735.1, CCDS47406.1	6p21.3	2014-09-17	2003-01-14		ENSG00000231852	ENSG00000231852	1.14.99.10	"""Cytochrome P450s"""	2600	protein-coding gene	gene with protein product	"""Steroid 21-monooxygenase"""	613815	"""cytochrome P450, subfamily XXIA (steroid 21-hydroxylase, congenital adrenal hyperplasia), polypeptide 2"""	CYP21, CYP21B			Standard	NM_000500		Approved	P450c21B, CA21H, CPS1, CAH1	uc021yvd.1	P08686	OTTHUMG00000031069	ENST00000418967.2:c.534C>T	6.37:g.32007219C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BHY6|P04033|Q01204|Q08AG8|Q16749|Q16806|Q5ST44|Q96NU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F178	ENST00000418967.2	37	c.534	CCDS4735.1	6																																																																																			CYP21A2	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I		0.587	CYP21A2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP21A2	HGNC	protein_coding	OTTHUMT00000268768.2	C	NM_000500		32007219	+1	no_errors	ENST00000418967	ensembl	human	known	70_37	silent	SNP	0.963	T
DCC	1630	genome.wustl.edu	37	18	50936959	50936959	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:50936959C>G	ENST00000442544.2	+	20	3689	c.3073C>G	c.(3073-3075)Cga>Gga	p.R1025G	DCC_ENST00000412726.1_Missense_Mutation_p.R853G|DCC_ENST00000581580.1_Missense_Mutation_p.R660G	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	1025	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)	p.R1025G(1)|p.R1025*(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AATTCAAGCACGAAATTCAAA	0.378																																																	2	Substitution - Nonsense(1)|Substitution - Missense(1)	cervix(1)|haematopoietic_and_lymphoid_tissue(1)											120.0	116.0	117.0					18																	50936959		2203	4300	6503	SO:0001583	missense	1630			X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.3073C>G	18.37:g.50936959C>G	ENSP00000389140:p.Arg1025Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.R1025G	ENST00000442544.2	37	c.3073	CCDS11952.1	18	.	.	.	.	.	.	.	.	.	.	C	6.712	0.500113	0.12762	.	.	ENSG00000187323	ENST00000442544;ENST00000412726	T;T	0.58652	0.32;0.32	5.87	4.99	0.66335	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.080048	0.50627	D	0.000118	T	0.73721	0.3623	M	0.77313	2.365	0.53005	D	0.999966	D;D;D	0.71674	0.996;0.996;0.998	D;D;D	0.72982	0.972;0.972;0.979	T	0.73069	-0.4099	10	0.28530	T	0.3	-8.005	13.2613	0.60106	0.2888:0.7112:0.0:0.0	.	853;853;1025	E7EQM8;B4DYX2;P43146	.;.;DCC_HUMAN	G	1025;853	ENSP00000389140:R1025G;ENSP00000397322:R853G	ENSP00000397322:R853G	R	+	1	2	DCC	49190957	0.965000	0.33210	0.987000	0.45799	0.218000	0.24690	2.309000	0.43699	1.590000	0.49995	0.655000	0.94253	CGA	DCC	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCC	HGNC	protein_coding	OTTHUMT00000255996.3	C	NM_005215		50936959	+1	no_errors	ENST00000442544	ensembl	human	known	70_37	missense	SNP	0.998	G
DCHS2	54798	genome.wustl.edu	37	4	155157687	155157687	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:155157687G>C	ENST00000357232.4	-	25	6751	c.6752C>G	c.(6751-6753)tCt>tGt	p.S2251C		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	2251	Cadherin 20. {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)	p.S2251C(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCATTTCCAGAGATGATGTT	0.393																																																	1	Substitution - Missense(1)	cervix(1)											100.0	104.0	103.0					4																	155157687		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.6752C>G	4.37:g.155157687G>C	ENSP00000349768:p.Ser2251Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S2251C	ENST00000357232.4	37	c.6752	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954637	0.73902	.	.	ENSG00000197410	ENST00000357232	T	0.64260	-0.09	5.64	5.64	0.86602	Cadherin (4);Cadherin-like (1);	0.086087	0.49916	D	0.000135	D	0.85401	0.5688	M	0.93375	3.41	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88709	0.3221	10	0.87932	D	0	.	19.7012	0.96054	0.0:0.0:1.0:0.0	.	2251	Q6V1P9	PCD23_HUMAN	C	2251	ENSP00000349768:S2251C	ENSP00000349768:S2251C	S	-	2	0	DCHS2	155377137	1.000000	0.71417	0.998000	0.56505	0.797000	0.45037	9.869000	0.99810	2.637000	0.89404	0.563000	0.77884	TCT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.393	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155157687	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	1.000	C
DCLRE1C	64421	genome.wustl.edu	37	10	14978589	14978589	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:14978589C>T	ENST00000378278.2	-	5	347	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	DCLRE1C_ENST00000378249.1_Intron|DCLRE1C_ENST00000378246.2_Intron|DCLRE1C_ENST00000357717.2_Intron|DCLRE1C_ENST00000378254.1_5'UTR|DCLRE1C_ENST00000396817.2_5'UTR|DCLRE1C_ENST00000378255.1_5'UTR|DCLRE1C_ENST00000378258.1_5'UTR|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.E104K|DCLRE1C_ENST00000453695.2_5'UTR			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	104					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E104K(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACAATCTCTTCCTTCTAAAAA	0.353								Non-homologous end-joining																																									1	Substitution - Missense(1)	cervix(1)											24.0	27.0	26.0					10																	14978589		2200	4300	6500	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.310G>A	10.37:g.14978589C>T	ENSP00000367527:p.Glu104Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.E104K	ENST00000378278.2	37	c.310	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.121633	0.94385	.	.	ENSG00000152457	ENST00000378289;ENST00000378278	T;T	0.77620	-1.02;-1.11	5.07	5.07	0.68467	Beta-lactamase-like (1);	0.089036	0.85682	N	0.000000	T	0.80670	0.4667	L	0.48877	1.53	0.80722	D	1	B;P	0.42518	0.39;0.782	B;P	0.49226	0.284;0.603	T	0.82686	-0.0334	10	0.72032	D	0.01	.	18.8146	0.92072	0.0:1.0:0.0:0.0	.	104;104	Q96SD1-4;Q96SD1	.;DCR1C_HUMAN	K	104	ENSP00000367538:E104K;ENSP00000367527:E104K	ENSP00000367527:E104K	E	-	1	0	DCLRE1C	15018595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.254000	0.65457	2.496000	0.84212	0.655000	0.94253	GAA	DCLRE1C	-	NULL		0.353	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	C	NM_022487		14978589	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	missense	SNP	1.000	T
DCLRE1A	9937	genome.wustl.edu	37	10	115602142	115602142	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:115602142G>A	ENST00000361384.2	-	6	3542	c.2625C>T	c.(2623-2625)gtC>gtT	p.V875V	DCLRE1A_ENST00000369305.1_Silent_p.V875V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	875					mitotic nuclear division (GO:0007067)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)		p.V875V(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		AAGTGCCACAGACAACAAGAG	0.393								Other identified genes with known or suspected DNA repair function																																									1	Substitution - coding silent(1)	cervix(1)											189.0	175.0	180.0					10																	115602142		2203	4300	6503	SO:0001819	synonymous_variant	9937				CCDS7584.1	10q25.1	2010-06-24	2010-06-24		ENSG00000198924	ENSG00000198924			17660	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	609682	"""DNA cross-link repair 1A (PSO2 homolog, S. cerevisiae)"""			9806498, 17804464	Standard	NM_014881		Approved	SNM1, PSO2, KIAA0086, hSNM1	uc031pxf.1	Q6PJP8	OTTHUMG00000019077	ENST00000361384.2:c.2625C>T	10.37:g.115602142G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRC1|Q14701|Q6P5Y3|Q6PKL4	Silent	SNP	pfam_DRMBL	p.V875	ENST00000361384.2	37	c.2625	CCDS7584.1	10																																																																																			DCLRE1A	-	NULL		0.393	DCLRE1A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1A	HGNC	protein_coding	OTTHUMT00000050444.1	G	NM_014881		115602142	-1	no_errors	ENST00000361384	ensembl	human	known	70_37	silent	SNP	1.000	A
DEDD	9191	genome.wustl.edu	37	1	161091923	161091923	+	3'UTR	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161091923G>A	ENST00000368006.3	-	0	1185				NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_3'UTR|DEDD_ENST00000368005.1_3'UTR|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_3'UTR|DEDD_ENST00000392188.1_3'UTR|DEDD_ENST00000458050.2_3'UTR	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing						decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CCCAAAGTGAGAAGAGGGAAT	0.502																																																	0													100.0	101.0	101.0					1																	161091923		2203	4300	6503	SO:0001624	3_prime_UTR_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.*14C>T	1.37:g.161091923G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVF5|O60737	RNA	SNP	-	NULL	ENST00000368006.3	37	NULL	CCDS1219.1	1																																																																																			DEDD	-	-		0.502	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	G	NM_004216		161091923	-1	no_errors	ENST00000486041	ensembl	human	known	70_37	rna	SNP	0.040	A
DEDD	9191	genome.wustl.edu	37	1	161092117	161092117	+	Silent	SNP	G	G	A	rs540627506		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161092117G>A	ENST00000368006.3	-	6	991	c.777C>T	c.(775-777)ttC>ttT	p.F259F	NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_Silent_p.F259F|DEDD_ENST00000368005.1_Silent_p.F289F|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Silent_p.F259F|DEDD_ENST00000392188.1_Silent_p.F289F|DEDD_ENST00000458050.2_Silent_p.F259F	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	259					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.F259F(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGTCACGCCAGAATGCATCGA	0.512																																																	1	Substitution - coding silent(1)	cervix(1)											140.0	127.0	131.0					1																	161092117		2203	4300	6503	SO:0001819	synonymous_variant	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.777C>T	1.37:g.161092117G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVF5|O60737	Silent	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.F289	ENST00000368006.3	37	c.867	CCDS1219.1	1																																																																																			DEDD	-	NULL		0.512	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	G	NM_004216		161092117	-1	no_errors	ENST00000368005	ensembl	human	known	70_37	silent	SNP	1.000	A
DEDD	9191	genome.wustl.edu	37	1	161092266	161092266	+	Missense_Mutation	SNP	G	G	T	rs373272159		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:161092266G>T	ENST00000368006.3	-	6	842	c.628C>A	c.(628-630)Ctg>Atg	p.L210M	NIT1_ENST00000368008.1_Intron|DEDD_ENST00000490843.2_Missense_Mutation_p.L210M|DEDD_ENST00000368005.1_Missense_Mutation_p.L240M|DEDD_ENST00000489249.1_5'UTR|DEDD_ENST00000545495.1_Missense_Mutation_p.L210M|DEDD_ENST00000392188.1_Missense_Mutation_p.L240M|DEDD_ENST00000458050.2_Missense_Mutation_p.L210M	NM_032998.2	NP_127491.1	O75618	DEDD_HUMAN	death effector domain containing	210					decidualization (GO:0046697)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901837)|regulation of apoptotic process (GO:0042981)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	DNA binding (GO:0003677)	p.L210M(1)		cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTGCCCTGCAGAGCAGTCTCA	0.527																																																	1	Substitution - Missense(1)	cervix(1)											97.0	101.0	100.0					1																	161092266		2203	4300	6503	SO:0001583	missense	9191			AF043733	CCDS1219.1	1q23.1	2008-02-05	2002-01-14		ENSG00000158796	ENSG00000158796			2755	protein-coding gene	gene with protein product		606841	"""death effector domain-containing"""			9774341, 9832420	Standard	XM_005245597		Approved	DEFT, FLDED1, CASP8IP1, KE05, DEDD1	uc001fxz.3	O75618	OTTHUMG00000033104	ENST00000368006.3:c.628C>A	1.37:g.161092266G>T	ENSP00000356985:p.Leu210Met	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVF5|O60737	Missense_Mutation	SNP	pfam_DED,superfamily_DEATH-like,smart_DED,pfscan_DED	p.L240M	ENST00000368006.3	37	c.718	CCDS1219.1	1	.	.	.	.	.	.	.	.	.	.	G	17.70	3.453353	0.63290	.	.	ENSG00000158796	ENST00000368006;ENST00000392188;ENST00000545495;ENST00000458050;ENST00000541906;ENST00000368005;ENST00000535389	.	.	.	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.73171	0.3553	M	0.70275	2.135	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.994	D;D;P	0.70227	0.935;0.968;0.782	T	0.76002	-0.3118	9	0.72032	D	0.01	.	15.9012	0.79377	0.0:0.0:1.0:0.0	.	167;240;210	B4DKM1;B1AQP5;O75618	.;.;DEDD_HUMAN	M	210;240;210;210;210;240;167	.	ENSP00000356984:L240M	L	-	1	2	DEDD	159358890	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.856000	0.86956	2.615000	0.88500	0.650000	0.86243	CTG	DEDD	-	NULL		0.527	DEDD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEDD	HGNC	protein_coding	OTTHUMT00000080582.1	G	NM_004216		161092266	-1	no_errors	ENST00000368005	ensembl	human	known	70_37	missense	SNP	1.000	T
DENND4A	10260	genome.wustl.edu	37	15	66048590	66048590	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:66048590C>G	ENST00000431932.2	-	3	407	c.199G>C	c.(199-201)Gat>Cat	p.D67H	DENND4A_ENST00000443035.3_Missense_Mutation_p.D67H	NM_005848.3	NP_005839.3	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	67	MABP. {ECO:0000255|PROSITE- ProRule:PRU00831}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.D67H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(11)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						GGGGTAACATCAATACAGATA	0.393																																																	2	Substitution - Missense(2)	cervix(2)											72.0	66.0	68.0					15																	66048590		1827	4089	5916	SO:0001583	missense	10260			AF534403	CCDS45285.1, CCDS53949.1	15q22.31	2012-10-03	2006-01-27	2006-01-27				"""DENN/MADD domain containing"""	24321	protein-coding gene	gene with protein product		600382	"""c-myc promoter binding protein"""	MYCPBP		8056341, 12906859	Standard	NM_005848		Approved	IRLB	uc002api.3	Q7Z401		ENST00000431932.2:c.199G>C	15.37:g.66048590C>G	ENSP00000396830:p.Asp67His	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPL3|Q14655|Q86T77|Q8IVX2|Q8NB93	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat	p.D67H	ENST00000431932.2	37	c.199	CCDS45285.1	15	.	.	.	.	.	.	.	.	.	.	C	20.7	4.028347	0.75390	.	.	ENSG00000174485	ENST00000443035;ENST00000431932	T;T	0.22336	1.96;1.96	5.6	5.6	0.85130	MABP domain (1);	0.053072	0.64402	D	0.000001	T	0.41604	0.1166	L	0.48642	1.525	0.80722	D	1	P;D;D	0.89917	0.819;1.0;1.0	P;D;D	0.66602	0.519;0.945;0.923	T	0.15983	-1.0418	10	0.87932	D	0	.	19.6126	0.95616	0.0:1.0:0.0:0.0	.	67;67;67	B7Z5Y3;E7EPL3;Q7Z401	.;.;MYCPP_HUMAN	H	67	ENSP00000391167:D67H;ENSP00000396830:D67H	ENSP00000396830:D67H	D	-	1	0	DENND4A	63835644	1.000000	0.71417	0.696000	0.30242	0.485000	0.33311	7.818000	0.86416	2.630000	0.89119	0.591000	0.81541	GAT	DENND4A	-	pfscan_uDENN_dom		0.393	DENND4A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4A	HGNC	protein_coding	OTTHUMT00000419611.1	C	NM_005848		66048590	-1	no_errors	ENST00000443035	ensembl	human	known	70_37	missense	SNP	1.000	G
DGKH	160851	genome.wustl.edu	37	13	42830423	42830423	+	3'UTR	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr13:42830423C>T	ENST00000498255.2	+	0	4131							Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTTCAGTTTCCTTTACAGAA	0.448																																																	0																																										SO:0001624	3_prime_UTR_variant	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000498255.2:c.*4128C>T	13.37:g.42830423C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	RNA	SNP	-	NULL	ENST00000498255.2	37	NULL		13																																																																																			DGKH	-	-		0.448	DGKH-002	KNOWN	basic	processed_transcript	DGKH	HGNC	protein_coding	OTTHUMT00000044697.3	C	NM_178009		42830423	+1	no_errors	ENST00000498255	ensembl	human	known	70_37	rna	SNP	1.000	T
DGKH	160851	genome.wustl.edu	37	13	42830663	42830663	+	3'UTR	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr13:42830663C>T	ENST00000498255.2	+	0	4371							Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		ATGCTGAGTCCAAAGTGATTT	0.279																																																	0																																										SO:0001624	3_prime_UTR_variant	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000498255.2:c.*4368C>T	13.37:g.42830663C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	RNA	SNP	-	NULL	ENST00000498255.2	37	NULL		13																																																																																			DGKH	-	-		0.279	DGKH-002	KNOWN	basic	processed_transcript	DGKH	HGNC	protein_coding	OTTHUMT00000044697.3	C	NM_178009		42830663	+1	no_errors	ENST00000498255	ensembl	human	known	70_37	rna	SNP	1.000	T
DLG4	1742	genome.wustl.edu	37	17	7099654	7099654	+	Splice_Site	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:7099654C>G	ENST00000399506.2	-	11	1378		c.e11-1		DLG4_ENST00000302955.6_Splice_Site|DLG4_ENST00000399510.2_Splice_Site			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)						alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)	p.?(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	CGGCTGTACTCTGAGGAAGGA	0.582																																																	2	Unknown(2)	cervix(2)											49.0	53.0	52.0					17																	7099654		2052	4198	6250	SO:0001630	splice_region_variant	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1187-1G>C	17.37:g.7099654C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1S1|G5E939|Q92941|Q9UKK8	Splice_Site	SNP	-	e13-1	ENST00000399506.2	37	c.1316-1		17	.	.	.	.	.	.	.	.	.	.	C	14.39	2.521795	0.44866	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0786	0.72096	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DLG4	7040378	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	7.566000	0.82347	2.400000	0.81607	0.591000	0.81541	.	DLG4	-	-		0.582	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	C	NM_001365	Intron	7099654	-1	no_errors	ENST00000293813	ensembl	human	known	70_37	splice_site	SNP	1.000	G
DLGAP5	9787	genome.wustl.edu	37	14	55650367	55650367	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:55650367G>A	ENST00000247191.2	-	3	559	c.343C>T	c.(343-345)Cga>Tga	p.R115*	DLGAP5_ENST00000395425.2_Nonsense_Mutation_p.R115*	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	115					cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|dephosphorylation (GO:0016311)|mitotic chromosome movement towards spindle pole (GO:0007079)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)	cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|spindle pole centrosome (GO:0031616)	phosphoprotein phosphatase activity (GO:0004721)	p.R115*(1)		biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AATATTCCTCGTTTAGCTTTC	0.338																																																	1	Substitution - Nonsense(1)	cervix(1)											98.0	86.0	90.0					14																	55650367		2203	4300	6503	SO:0001587	stop_gained	9787			D13633	CCDS9723.1, CCDS53897.1	14q22.3	2008-05-30	2008-05-30	2008-05-30	ENSG00000126787	ENSG00000126787			16864	protein-coding gene	gene with protein product			"""discs, large homolog 7 (Drosophila)"""	DLG7		7584026, 7584028	Standard	NM_014750		Approved	KIAA0008, DLG1, HURP	uc001xbs.3	Q15398	OTTHUMG00000140310	ENST00000247191.2:c.343C>T	14.37:g.55650367G>A	ENSP00000247191:p.Arg115*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTM6|B4DRM8|Q86T11|Q8NG58	Nonsense_Mutation	SNP	pfam_GKAP	p.R115*	ENST00000247191.2	37	c.343	CCDS9723.1	14	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453988	0.43634	.	.	ENSG00000126787	ENST00000395425;ENST00000247191;ENST00000557645	.	.	.	5.46	1.11	0.20524	.	0.975032	0.08428	N	0.947344	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.7661	0.13132	0.0751:0.1105:0.3767:0.4377	.	.	.	.	X	115	.	ENSP00000247191:R115X	R	-	1	2	DLGAP5	54720120	0.893000	0.30496	0.869000	0.34112	0.618000	0.37518	1.277000	0.33167	0.305000	0.22832	-0.140000	0.14226	CGA	DLGAP5	-	NULL		0.338	DLGAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP5	HGNC	protein_coding	OTTHUMT00000276908.2	G	NM_014750		55650367	-1	no_errors	ENST00000247191	ensembl	human	known	70_37	nonsense	SNP	0.141	A
DMAP1	55929	genome.wustl.edu	37	1	44684814	44684814	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:44684814G>C	ENST00000372289.2	+	6	1070	c.807G>C	c.(805-807)caG>caC	p.Q269H	DMAP1_ENST00000315913.5_Missense_Mutation_p.Q269H|DMAP1_ENST00000488433.1_3'UTR|DMAP1_ENST00000361745.6_Missense_Mutation_p.Q269H	NM_019100.4	NP_061973.1	Q9NPF5	DMAP1_HUMAN	DNA methyltransferase 1 associated protein 1	269					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA methylation (GO:0006306)|DNA repair (GO:0006281)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription factor import into nucleus (GO:0042993)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|RNA polymerase II repressing transcription factor binding (GO:0001103)|transcription corepressor activity (GO:0003714)	p.Q269H(1)		breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					AGGACCTGCAGAAGCTGATCA	0.607																																																	1	Substitution - Missense(1)	cervix(1)											56.0	57.0	57.0					1																	44684814		2203	4300	6503	SO:0001583	missense	55929			AB037846	CCDS509.1	1p34	2009-07-13			ENSG00000178028	ENSG00000178028			18291	protein-coding gene	gene with protein product		605077				10888872, 10718198	Standard	XM_005271039		Approved	DNMAP1, FLJ11543, KIAA1425, DNMTAP1, EAF2, MEAF2, SWC4	uc001clq.1	Q9NPF5	OTTHUMG00000007577	ENST00000372289.2:c.807G>C	1.37:g.44684814G>C	ENSP00000361363:p.Gln269His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K001|D3DPY8|Q0JSM4|Q5TG41|Q7Z3H7|Q9H0S8|Q9P2C2	Missense_Mutation	SNP	pfam_DMAP1,superfamily_Homeodomain-like	p.Q269H	ENST00000372289.2	37	c.807	CCDS509.1	1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450833	0.84209	.	.	ENSG00000178028	ENST00000361745;ENST00000446292;ENST00000315913;ENST00000372289	.	.	.	5.53	4.61	0.57282	DNA methyltransferase 1-associated 1 (2);	0.000000	0.85682	D	0.000000	T	0.69205	0.3085	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.995	T	0.63791	-0.6557	9	0.16420	T	0.52	-21.814	11.1268	0.48324	0.1415:0.0:0.8585:0.0	.	259;269	B4DQG8;Q9NPF5	.;DMAP1_HUMAN	H	269	.	ENSP00000312697:Q269H	Q	+	3	2	DMAP1	44457401	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.170000	0.50816	2.606000	0.88127	0.591000	0.81541	CAG	DMAP1	-	pfam_DMAP1		0.607	DMAP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DMAP1	HGNC	protein_coding	OTTHUMT00000020027.3	G	NM_019100		44684814	+1	no_errors	ENST00000315913	ensembl	human	known	70_37	missense	SNP	1.000	C
DMBT1	1755	genome.wustl.edu	37	10	124345695	124345695	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:124345695G>T	ENST00000338354.3	+	16	1685	c.1579G>T	c.(1579-1581)Gat>Tat	p.D527Y	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517Y|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527Y|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.D517Y			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)	p.D527Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612																																					Ovarian(182;93 2026 18125 22222 38972)												3	Substitution - Missense(3)	cervix(3)											293.0	225.0	248.0					10																	124345695		2062	4180	6242	SO:0001583	missense	1755				CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.1579G>T	10.37:g.124345695G>T	ENSP00000342210:p.Asp527Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt	p.D527Y	ENST00000338354.3	37	c.1579		10	.	.	.	.	.	.	.	.	.	.	G	14.73	2.621447	0.46736	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.5	4.5	0.54988	Speract/scavenger receptor (3);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.77718	0.4172	H	0.99525	4.61	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.997;0.998	D	0.88887	0.3343	9	0.87932	D	0	.	17.2551	0.87053	0.0:0.0:1.0:0.0	.	527;517;527	Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;DMBT1_HUMAN	Y	527;527;527;527;527;527;517;527;517	ENSP00000342210:D527Y;ENSP00000343175:D517Y;ENSP00000357905:D527Y;ENSP00000357951:D517Y	ENSP00000342210:D527Y	D	+	1	0	DMBT1	124335685	1.000000	0.71417	0.043000	0.18650	0.790000	0.44656	6.170000	0.71920	2.067000	0.61834	0.456000	0.33151	GAT	DMBT1	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.612	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	DMBT1	HGNC	protein_coding	OTTHUMT00000050792.2	G	NM_004406		124345695	+1	no_errors	ENST00000368915	ensembl	human	known	70_37	missense	SNP	0.998	T
DMD	1756	genome.wustl.edu	37	X	32591732	32591732	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:32591732G>A	ENST00000357033.4	-	15	1933	c.1727C>T	c.(1726-1728)tCa>tTa	p.S576L	DMD_ENST00000288447.4_Missense_Mutation_p.S568L|DMD_ENST00000378677.2_Missense_Mutation_p.S572L	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	576					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.S576L(1)|p.S571L(1)|p.S572L(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTCTTTTTCTGAAAGCCATGC	0.338																																																	3	Substitution - Missense(3)	cervix(3)											90.0	81.0	84.0					X																	32591732		2201	4300	6501	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1727C>T	X.37:g.32591732G>A	ENSP00000354923:p.Ser576Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.S576L	ENST00000357033.4	37	c.1727	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	g	20.6	4.016466	0.75161	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447;ENST00000447523	T;T;T;T	0.63744	1.29;1.29;1.29;-0.06	5.15	5.15	0.70609	.	0.319538	0.17031	U	0.189682	T	0.56543	0.1992	L	0.47716	1.5	0.80722	D	1	B;B;B;B	0.30406	0.278;0.206;0.136;0.131	B;B;B;B	0.25140	0.057;0.058;0.031;0.026	T	0.53968	-0.8363	10	0.30078	T	0.28	.	17.7834	0.88530	0.0:0.0:1.0:0.0	.	568;568;576;572	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	L	568;572;576;576;453;568;124	ENSP00000367948:S572L;ENSP00000354923:S576L;ENSP00000288447:S568L;ENSP00000395904:S124L	ENSP00000288447:S568L	S	-	2	0	DMD	32501653	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.041000	0.70988	2.130000	0.65690	0.534000	0.68092	TCA	DMD	-	smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin		0.338	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	G	NM_004006		32591732	-1	no_errors	ENST00000357033	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21789930	21789930	+	Missense_Mutation	SNP	C	C	A	rs374033085	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:21789930C>A	ENST00000409508.3	+	54	8919	c.8888C>A	c.(8887-8889)tCc>tAc	p.S2963Y	DNAH11_ENST00000328843.6_Missense_Mutation_p.S2970Y	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2970	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.S2970Y(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGGTAGACTCCAGGGAAAAC	0.413									Kartagener syndrome				C|||	2	0.000399361	0.0	0.0029	5008	,	,		18242	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	cervix(1)						C	TYR/SER	0,3746		0,0,1873	66.0	65.0	65.0		8910	4.9	1.0	7		65	5,8205		0,5,4100	no	missense	DNAH11	NM_003777.3	144	0,5,5973	AA,AC,CC		0.0609,0.0,0.0418	possibly-damaging	2970/4524	21789930	5,11951	1873	4105	5978	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8888C>A	7.37:g.21789930C>A	ENSP00000475939:p.Ser2963Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S2970Y	ENST00000409508.3	37	c.8909		7	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412917	0.62511	0.0	6.09E-4	ENSG00000105877	ENST00000328843	T	0.44881	0.91	5.8	4.92	0.64577	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.537884	0.21166	N	0.079074	T	0.63129	0.2485	.	.	.	0.42035	D	0.991046	D	0.67145	0.996	D	0.66196	0.942	T	0.68127	-0.5491	9	0.87932	D	0	.	12.699	0.57020	0.0:0.8632:0.0:0.1368	.	2970	Q96DT5	DYH11_HUMAN	Y	2970	ENSP00000330671:S2970Y	ENSP00000330671:S2970Y	S	+	2	0	DNAH11	21756455	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	1.443000	0.35057	1.455000	0.47813	0.655000	0.94253	TCC	DNAH11	-	smart_AAA+_ATPase		0.413	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	C	NM_003777		21789930	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56506864	56506864	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:56506864C>T	ENST00000361203.3	-	13	1282	c.1275G>A	c.(1273-1275)caG>caA	p.Q425Q	DST_ENST00000370765.6_Silent_p.Q99Q|DST_ENST00000370788.2_Silent_p.Q425Q|DST_ENST00000370754.5_Silent_p.Q603Q|DST_ENST00000446842.2_Silent_p.Q99Q|DST_ENST00000518935.1_Silent_p.Q99Q|DST_ENST00000370769.4_Silent_p.Q425Q|DST_ENST00000312431.6_Silent_p.Q425Q|DST_ENST00000244364.6_Silent_p.Q99Q|DST_ENST00000421834.2_Silent_p.Q425Q			Q03001	DYST_HUMAN	dystonin	425					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)	p.Q99Q(3)|p.Q425Q(1)|p.Q603Q(1)		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)			CTGCTTCATTCTGAAACTGCA	0.323																																																	5	Substitution - coding silent(5)	cervix(5)											94.0	88.0	90.0					6																	56506864		2203	4299	6502	SO:0001819	synonymous_variant	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.1275G>A	6.37:g.56506864C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	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.Q603	ENST00000361203.3	37	c.1809		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1		0.323	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	C	NM_001723		56506864	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	T
DTX3	196403	genome.wustl.edu	37	12	58002422	58002422	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:58002422C>T	ENST00000548198.1	+	4	2374	c.870C>T	c.(868-870)ctC>ctT	p.L290L	ARHGEF25_ENST00000286494.4_5'Flank|DTX3_ENST00000548804.1_Silent_p.L290L|DTX3_ENST00000337737.3_Silent_p.L290L|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000551632.1_Silent_p.L293L			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	290					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.L290L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					ACCAGCGTCTCACCTTCACTA	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											70.0	77.0	74.0					12																	58002422		2160	4253	6413	SO:0001819	synonymous_variant	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.870C>T	12.37:g.58002422C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53ZZ2|Q8NAU6|Q8NDS8	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L293	ENST00000548198.1	37	c.879	CCDS41800.1	12																																																																																			DTX3	-	NULL		0.607	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	HGNC	protein_coding	OTTHUMT00000407848.1	C	NM_178502		58002422	+1	no_errors	ENST00000551632	ensembl	human	known	70_37	silent	SNP	0.998	T
DYNC2H1	79659	genome.wustl.edu	37	11	103026188	103026188	+	Silent	SNP	C	C	G	rs372764245		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:103026188C>G	ENST00000375735.2	+	25	3846	c.3702C>G	c.(3700-3702)ctC>ctG	p.L1234L	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.L1234L	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1234	Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GTGATTTGCTCAGAGTAGCTG	0.408																																																	0													73.0	72.0	72.0					11																	103026188		1823	4080	5903	SO:0001819	synonymous_variant	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.3702C>G	11.37:g.103026188C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L1234	ENST00000375735.2	37	c.3702	CCDS53701.1	11																																																																																			DYNC2H1	-	pfam_Dynein_heavy_dom-2		0.408	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC2H1	HGNC	protein_coding	OTTHUMT00000387196.1	C	XM_370652		103026188	+1	no_errors	ENST00000398093	ensembl	human	known	70_37	silent	SNP	0.998	G
EBAG9	9166	genome.wustl.edu	37	8	110569206	110569206	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:110569206G>C	ENST00000337573.5	+	5	664	c.364G>C	c.(364-366)Gat>Cat	p.D122H	EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.D122H|EBAG9_ENST00000531677.1_Missense_Mutation_p.D122H	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	122					regulation of cell growth (GO:0001558)	focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)	peptidase activator activity involved in apoptotic process (GO:0016505)	p.D122H(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TGGCATCCCAGATGGGAGCAC	0.338																																																	1	Substitution - Missense(1)	cervix(1)											102.0	94.0	97.0					8																	110569206		2203	4299	6502	SO:0001583	missense	9166			AB007619	CCDS6313.1	8q23	2013-03-07			ENSG00000147654	ENSG00000147654			3123	protein-coding gene	gene with protein product		605772					Standard	NM_004215		Approved	EB9, RCAS1	uc003ynf.3	O00559	OTTHUMG00000165346	ENST00000337573.5:c.364G>C	8.37:g.110569206G>C	ENSP00000337675:p.Asp122His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3N6|Q5Y8C7|Q6IB20|Q9BS76	Missense_Mutation	SNP	pirsf_Cancer-assoc_antigen_RCAS1	p.D122H	ENST00000337573.5	37	c.364	CCDS6313.1	8	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783622	0.90282	.	.	ENSG00000147654	ENST00000395785;ENST00000529931;ENST00000337573;ENST00000530629;ENST00000531677	.	.	.	5.75	5.75	0.90469	.	0.040396	0.85682	D	0.000000	T	0.58148	0.2102	L	0.36672	1.1	0.80722	D	1	P	0.52842	0.956	P	0.47603	0.551	T	0.61252	-0.7100	9	0.72032	D	0.01	-2.6109	19.2924	0.94105	0.0:0.0:1.0:0.0	.	122	O00559	RCAS1_HUMAN	H	122;25;122;122;122	.	ENSP00000337675:D122H	D	+	1	0	EBAG9	110638382	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.110000	0.94302	2.878000	0.98634	0.650000	0.86243	GAT	EBAG9	-	pirsf_Cancer-assoc_antigen_RCAS1		0.338	EBAG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EBAG9	HGNC	protein_coding	OTTHUMT00000383536.1	G	NM_004215		110569206	+1	no_errors	ENST00000337573	ensembl	human	known	70_37	missense	SNP	1.000	C
EDC3	80153	genome.wustl.edu	37	15	74948272	74948272	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:74948272C>T	ENST00000315127.4	-	4	803	c.622G>A	c.(622-624)Ggg>Agg	p.G208R	EDC3_ENST00000426797.3_Missense_Mutation_p.G208R|EDC3_ENST00000568176.1_Missense_Mutation_p.G208R	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3	208	DFDF. {ECO:0000255|PROSITE- ProRule:PRU00845}.|Required for interaction with DDX6. {ECO:0000250}.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|membrane (GO:0016020)	identical protein binding (GO:0042802)|RNA binding (GO:0003723)	p.G208R(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCCAGGTTCCCTTCAAAATCA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											105.0	104.0	104.0					15																	74948272		2197	4296	6493	SO:0001583	missense	80153			BC011534	CCDS10267.1	15q24.1	2013-05-02	2013-05-02	2006-07-07	ENSG00000179151	ENSG00000179151			26114	protein-coding gene	gene with protein product		609842	"""yjeF domain containing (E.coli)"", ""LSM16 homolog (EDC3, S. cerevisiae)"", ""enhancer of mRNA decapping 3 homolog (S. cerevisiae)"""	YJDC, LSM16		15225602, 17533573, 22483619	Standard	NM_025083		Approved	FLJ21128, hYjeF_N2-15q23, YJEFN2	uc002aym.3	Q96F86	OTTHUMG00000142815	ENST00000315127.4:c.622G>A	15.37:g.74948272C>T	ENSP00000320503:p.Gly208Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPH0|D3DW61|Q9H797	Missense_Mutation	SNP	pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom	p.G208R	ENST00000315127.4	37	c.622	CCDS10267.1	15	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296270	0.60086	.	.	ENSG00000179151	ENST00000315127;ENST00000426797	.	.	.	5.54	5.54	0.83059	DFDF motif (1);	0.000000	0.85682	D	0.000000	T	0.57344	0.2047	L	0.43152	1.355	0.80722	D	1	B	0.17667	0.023	B	0.23419	0.046	T	0.51092	-0.8749	9	0.22109	T	0.4	-17.2821	18.4544	0.90714	0.0:1.0:0.0:0.0	.	208	Q96F86	EDC3_HUMAN	R	208	.	ENSP00000320503:G208R	G	-	1	0	EDC3	72735325	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.274000	0.78538	2.592000	0.87571	0.655000	0.94253	GGG	EDC3	-	pfam_FDF_dom		0.453	EDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDC3	HGNC	protein_coding	OTTHUMT00000286399.1	C	NM_025083		74948272	-1	no_errors	ENST00000315127	ensembl	human	known	70_37	missense	SNP	1.000	T
EDNRA	1909	genome.wustl.edu	37	4	148407187	148407187	+	Silent	SNP	G	G	A	rs201702493		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:148407187G>A	ENST00000324300.5	+	2	869	c.354G>A	c.(352-354)ctG>ctA	p.L118L	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.L118L|EDNRA_ENST00000506066.1_Silent_p.L118L|EDNRA_ENST00000358556.4_Silent_p.L118L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	118					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)	p.L118L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	CCAACGCGCTGATAGCCAGTC	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											113.0	105.0	108.0					4																	148407187		2203	4300	6503	SO:0001819	synonymous_variant	1909			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.354G>A	4.37:g.148407187G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.L118	ENST00000324300.5	37	c.354	CCDS3769.1	4																																																																																			EDNRA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.413	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1	G			148407187	+1	no_errors	ENST00000324300	ensembl	human	known	70_37	silent	SNP	1.000	A
EGLN1	54583	genome.wustl.edu	37	1	231556755	231556755	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:231556755C>T	ENST00000366641.3	-	1	4035	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	EGLN1_ENST00000476717.1_5'Flank	NM_022051.2	NP_071334.1			egl-9 family hypoxia-inducible factor 1									p.G294S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	16		Prostate(94;0.194)|Acute lymphoblastic leukemia(190;0.244)				TTCGTCCGGCCATTGATTTTG	0.602																																																	1	Substitution - Missense(1)	cervix(1)											134.0	128.0	130.0					1																	231556755		2203	4300	6503	SO:0001583	missense	54583			AJ310543	CCDS1595.1	1q42.1	2013-08-21	2013-08-21	2001-08-24	ENSG00000135766	ENSG00000135766		"""Zinc fingers, MYND-type"""	1232	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 2"""	606425	"""EGL nine (C.elegans) homolog 1"", ""egl nine homolog 1 (C. elegans)"""	C1orf12		11056053	Standard	NM_022051		Approved	SM-20, PHD2, ZMYND6, HIFPH2	uc001huv.2	Q9GZT9	OTTHUMG00000038027	ENST00000366641.3:c.880G>A	1.37:g.231556755C>T	ENSP00000355601:p.Gly294Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_MYND,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph,pfscan_Znf_MYND	p.G294S	ENST00000366641.3	37	c.880	CCDS1595.1	1	.	.	.	.	.	.	.	.	.	.	C	37	6.244910	0.97408	.	.	ENSG00000135766	ENST00000366641	D	0.86432	-2.12	4.86	4.86	0.63082	Oxoglutarate/iron-dependent oxygenase (1);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	D	0.86727	0.6002	L	0.43923	1.385	0.80722	D	1	B	0.33583	0.418	B	0.42653	0.394	D	0.84750	0.0756	10	0.32370	T	0.25	-17.5734	18.361	0.90374	0.0:1.0:0.0:0.0	.	294	Q9GZT9	EGLN1_HUMAN	S	294	ENSP00000355601:G294S	ENSP00000355601:G294S	G	-	1	0	EGLN1	229623378	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	7.619000	0.83057	2.362000	0.80069	0.563000	0.77884	GGC	EGLN1	-	smart_Pro_4_hyd_alph		0.602	EGLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGLN1	HGNC	protein_coding	OTTHUMT00000092879.1	C	NM_022051		231556755	-1	no_errors	ENST00000366641	ensembl	human	known	70_37	missense	SNP	1.000	T
EI24	9538	genome.wustl.edu	37	11	125453661	125453661	+	3'UTR	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:125453661G>A	ENST00000530985.1	+	0	1533				STT3A-AS1_ENST00000530526.1_RNA|STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_3'UTR|EI24_ENST00000343678.4_3'UTR			O14681	EI24_HUMAN	etoposide induced 2.4						apoptotic process (GO:0006915)|autophagy (GO:0006914)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of cell growth (GO:0030308)|neuromuscular process controlling balance (GO:0050885)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|response to drug (GO:0042493)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GCCTGCCAGGGAAGGCAGGAC	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	9538			AF010313	CCDS73410.1	11q24.2	2012-11-19	2012-11-16		ENSG00000149547	ENSG00000149547			13276	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 4 homolog (C. elegans)"""	605170	"""etoposide induced 2.4 mRNA"""			10594026, 9305847	Standard	NM_001290135		Approved	PIG8, TP53I8, EPG4	uc001qcb.3	O14681	OTTHUMG00000165851	ENST00000530985.1:c.*1530G>A	11.37:g.125453661G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7D6|B4DKL6|Q9BUQ1	Silent	SNP	NULL	p.G67	ENST00000530985.1	37	c.201		11																																																																																			EI24	-	NULL		0.562	EI24-002	KNOWN	basic	processed_transcript	EI24	HGNC	protein_coding	OTTHUMT00000386671.1	G	NM_004879		125453661	+1	no_errors	ENST00000526081	ensembl	human	putative	70_37	silent	SNP	0.988	A
EIF2S1	1965	genome.wustl.edu	37	14	67847454	67847454	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:67847454G>C	ENST00000256383.4	+	5	1013	c.552G>C	c.(550-552)ttG>ttC	p.L184F	EIF2S1_ENST00000466499.2_Missense_Mutation_p.L184F	NM_004094.4	NP_004085.1	P05198	IF2A_HUMAN	eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa	184					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|protein autophosphorylation (GO:0046777)|regulation of translational initiation in response to stress (GO:0043558)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|eukaryotic translation initiation factor 2 complex (GO:0005850)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)	poly(A) RNA binding (GO:0044822)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)	p.L184F(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9				all cancers(60;0.000683)|OV - Ovarian serous cystadenocarcinoma(108;0.00579)|BRCA - Breast invasive adenocarcinoma(234;0.00937)		ATAGGCGCTTGACCCCACAGG	0.308																																																	1	Substitution - Missense(1)	cervix(1)											51.0	55.0	54.0					14																	67847454		2203	4295	6498	SO:0001583	missense	1965			J02645	CCDS9781.1	14q21.3	2011-01-07	2002-08-29		ENSG00000134001	ENSG00000134001			3265	protein-coding gene	gene with protein product		603907	"""eukaryotic translation initiation factor 2, subunit 1 (alpha, 35kD )"""	EIF2		2948954	Standard	NM_004094		Approved	EIF-2alpha, EIF2A	uc001xjg.3	P05198	OTTHUMG00000029800	ENST00000256383.4:c.552G>C	14.37:g.67847454G>C	ENSP00000256383:p.Leu184Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.L184F	ENST00000256383.4	37	c.552	CCDS9781.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.22|17.22	3.335465|3.335465	0.60853|0.60853	.|.	.|.	ENSG00000134001|ENSG00000134001	ENST00000256383;ENST00000557310;ENST00000466499|ENST00000555876	.|.	.|.	.|.	5.92|5.92	4.07|4.07	0.47477|0.47477	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.78253|.	0.4254|.	M|M	0.84773|0.84773	2.715|2.715	0.80722|0.80722	D|D	1|1	D|.	0.71674|.	0.998|.	D|.	0.79108|.	0.992|.	T|.	0.80535|.	-0.1339|.	9|.	0.87932|.	D|.	0|.	-7.268|-7.268	16.0518|16.0518	0.80769|0.80769	0.1232:0.0:0.8768:0.0|0.1232:0.0:0.8768:0.0	.|.	184|.	P05198|.	IF2A_HUMAN|.	F|S	184|141	.|.	ENSP00000256383:L184F|.	L|X	+|+	3|2	2|2	EIF2S1|EIF2S1	66917207|66917207	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.895000|0.895000	0.52256|0.52256	1.108000|1.108000	0.31123|0.31123	0.852000|0.852000	0.35287|0.35287	-0.813000|-0.813000	0.03139|0.03139	TTG|TGA	EIF2S1	-	pfam_TIF_2_asu		0.308	EIF2S1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2S1	HGNC	protein_coding	OTTHUMT00000074342.3	G	NM_004094		67847454	+1	no_errors	ENST00000256383	ensembl	human	known	70_37	missense	SNP	1.000	C
EIF3D	8664	genome.wustl.edu	37	22	36912933	36912933	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:36912933G>A	ENST00000216190.8	-	11	1361				EIF3D_ENST00000541106.1_Intron|EIF3D_ENST00000405442.1_Intron	NM_003753.3	NP_003744.1			eukaryotic translation initiation factor 3, subunit D											cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						TTGCAGCCCTGGCCAGGTTCC	0.527																																																	0																																										SO:0001627	intron_variant	8664			U54558	CCDS13930.1	22q13.1	2007-07-27	2007-07-27	2007-07-27	ENSG00000100353	ENSG00000100353			3278	protein-coding gene	gene with protein product		603915	"""eukaryotic translation initiation factor 3, subunit 7 zeta, 66/67kDa"""	EIF3S7		9341143	Standard	NM_003753		Approved	eIF3-p66, eIF3-zeta, eIF3d	uc003apr.3	O15371	OTTHUMG00000150599	ENST00000216190.8:c.991-96C>T	22.37:g.36912933G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000216190.8	37	NULL	CCDS13930.1	22																																																																																			EIF3D	-	-		0.527	EIF3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3D	HGNC	protein_coding	OTTHUMT00000319026.1	G			36912933	-1	no_errors	ENST00000462794	ensembl	human	known	70_37	rna	SNP	0.015	A
ELOVL4	6785	genome.wustl.edu	37	6	80656984	80656984	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:80656984C>T	ENST00000369816.4	-	1	313	c.13G>A	c.(13-15)Gac>Aac	p.D5N		NM_022726.3	NP_073563.1	Q9GZR5	ELOV4_HUMAN	ELOVL fatty acid elongase 4	5					cellular lipid metabolic process (GO:0044255)|detection of visible light (GO:0009584)|fatty acid biosynthetic process (GO:0006633)|fatty acid elongation, saturated fatty acid (GO:0019367)|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)|integral component of endoplasmic reticulum membrane (GO:0030176)	G-protein coupled photoreceptor activity (GO:0008020)|transferase activity (GO:0016740)	p.D5N(1)		central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;1.83e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.011)		BRCA - Breast invasive adenocarcinoma(397;0.0168)	Alpha-Linolenic Acid(DB00132)	GGCTCCGAGTCCAGGAGCCCC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											57.0	48.0	51.0					6																	80656984		2203	4299	6502	SO:0001583	missense	6785			AF277094	CCDS4992.1	6q14	2013-01-08	2011-05-25		ENSG00000118402	ENSG00000118402			14415	protein-coding gene	gene with protein product	"""cancer/testis antigen 118"""	605512	"""elongation of very long chain fatty acids (FEN1/Elo2, SUR4/Elo3, yeast)-like 4"""	STGD2, STGD3		11138005	Standard	NM_022726		Approved	CT118	uc003pja.4	Q9GZR5	OTTHUMG00000015087	ENST00000369816.4:c.13G>A	6.37:g.80656984C>T	ENSP00000358831:p.Asp5Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6B5|Q5TCS2|Q86YJ1|Q9H139	Missense_Mutation	SNP	pfam_GNS1_SUR4	p.D5N	ENST00000369816.4	37	c.13	CCDS4992.1	6	.	.	.	.	.	.	.	.	.	.	C	16.68	3.190889	0.58017	.	.	ENSG00000118402	ENST00000369816	T	0.17854	2.25	4.11	4.11	0.48088	.	0.286191	0.29459	N	0.012087	T	0.10380	0.0254	N	0.08118	0	0.31800	N	0.628516	D	0.63880	0.993	D	0.68192	0.956	T	0.11251	-1.0595	10	0.36615	T	0.2	-12.6079	11.7008	0.51569	0.0:1.0:0.0:0.0	.	5	Q9GZR5	ELOV4_HUMAN	N	5	ENSP00000358831:D5N	ENSP00000358831:D5N	D	-	1	0	ELOVL4	80713703	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.248000	0.43160	2.116000	0.64780	0.462000	0.41574	GAC	ELOVL4	-	NULL		0.667	ELOVL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELOVL4	HGNC	protein_coding	OTTHUMT00000041315.1	C			80656984	-1	no_errors	ENST00000369816	ensembl	human	known	70_37	missense	SNP	1.000	T
ELOVL6	79071	genome.wustl.edu	37	4	111119453	111119453	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:111119453G>A	ENST00000394607.3	-	2	202	c.39C>T	c.(37-39)ttC>ttT	p.F13F	ELOVL6_ENST00000506461.1_5'UTR|ELOVL6_ENST00000302274.3_Silent_p.F13F			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	13					cellular lipid metabolic process (GO:0044255)|fatty acid elongation, saturated fatty acid (GO:0019367)|long-chain fatty acid biosynthetic process (GO:0042759)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	transferase activity, transferring acyl groups other than amino-acyl groups (GO:0016747)	p.F13F(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACTGCTTTTCGAATTCATATT	0.448																																																	1	Substitution - coding silent(1)	cervix(1)											217.0	189.0	198.0					4																	111119453		2203	4300	6503	SO:0001819	synonymous_variant	79071			AK027031	CCDS3690.1	4q25	2011-05-25	2011-05-25		ENSG00000170522	ENSG00000170522			15829	protein-coding gene	gene with protein product		611546	"""ELOVL family member 6, elongation of long chain fatty acids (FEN1/Elo2, SUR4/Elo3-like, yeast)"""			11567032	Standard	NM_024090		Approved	FLJ23378, MGC5487, LCE	uc003hzz.3	Q9H5J4	OTTHUMG00000132547	ENST00000394607.3:c.39C>T	4.37:g.111119453G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5L0|Q8NCD1	Silent	SNP	pfam_GNS1_SUR4	p.F13	ENST00000394607.3	37	c.39	CCDS3690.1	4																																																																																			ELOVL6	-	NULL		0.448	ELOVL6-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELOVL6	HGNC	protein_coding	OTTHUMT00000255748.1	G	NM_024090		111119453	-1	no_errors	ENST00000394607	ensembl	human	known	70_37	silent	SNP	0.939	A
ENPP3	5169	genome.wustl.edu	37	6	132067987	132067987	+	Missense_Mutation	SNP	G	G	A	rs201810317		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:132067987G>A	ENST00000414305.1	+	26	2847	c.2519G>A	c.(2518-2520)cGt>cAt	p.R840H	ENPP3_ENST00000358229.5_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.R840H			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	840	Nuclease.				immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)	metal ion binding (GO:0046872)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.R840H(1)		NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GCCCGGGTCCGTGATGTAGAA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											87.0	89.0	88.0					6																	132067987		2203	4300	6503	SO:0001583	missense	5169			AF005632	CCDS5148.1	6q22	2010-06-23			ENSG00000154269	ENSG00000154269	3.1.4.1, 3.6.1.9	"""CD molecules"""	3358	protein-coding gene	gene with protein product		602182		PDNP3		9344668	Standard	NM_005021		Approved	PD-IBETA, gp130RB13-6, B10, CD203c	uc003qcv.3	O14638	OTTHUMG00000016292	ENST00000414305.1:c.2519G>A	6.37:g.132067987G>A	ENSP00000406261:p.Arg840His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTL3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom	p.R840H	ENST00000414305.1	37	c.2519	CCDS5148.1	6	.	.	.	.	.	.	.	.	.	.	G	17.57	3.422422	0.62622	.	.	ENSG00000154269	ENST00000414305;ENST00000357639	T;T	0.70516	-0.49;-0.49	5.63	5.63	0.86233	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.092421	0.44483	D	0.000457	D	0.83880	0.5350	M	0.81179	2.53	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.84838	0.0806	10	0.87932	D	0	-8.3481	20.0529	0.97634	0.0:0.0:1.0:0.0	.	840	O14638	ENPP3_HUMAN	H	840	ENSP00000406261:R840H;ENSP00000350265:R840H	ENSP00000350265:R840H	R	+	2	0	ENPP3	132109680	0.996000	0.38824	0.708000	0.30435	0.067000	0.16453	6.061000	0.71148	2.814000	0.96858	0.591000	0.81541	CGT	ENPP3	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.403	ENPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP3	HGNC	protein_coding	OTTHUMT00000043627.2	G			132067987	+1	no_errors	ENST00000357639	ensembl	human	known	70_37	missense	SNP	0.979	A
UMAD1	729852	genome.wustl.edu	37	7	7782017	7782017	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:7782017G>A	ENST00000469183.1	+	4	417				AC007161.5_ENST00000418534.2_lincRNA																							GGCTGCCTCCGGAGTCGCAGT	0.502																																																	0																																										SO:0001627	intron_variant	0																														ENST00000469183.1:c.418-59284G>A	7.37:g.7782017G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000469183.1	37	NULL		7																																																																																			AC007161.5	-	-		0.502	RPA3-AS1-002	KNOWN	basic	processed_transcript	ENSG00000234718	Clone_based_vega_gene	protein_coding	OTTHUMT00000324787.1	G			7782017	-1	no_errors	ENST00000418534	ensembl	human	known	70_37	rna	SNP	1.000	A
snoU13	0	genome.wustl.edu	37	22	37344547	37344547	+	RNA	SNP	T	T	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:37344547T>C	ENST00000459547.1	+	0	26																											atagacgtgatgattgggtgt	0.428																																																	0																																												0																															22.37:g.37344547T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000459547.1	37	NULL		22																																																																																			snoU13	-	-		0.428	snoU13.365-201	NOVEL	basic	snoRNA	ENSG00000239056	RFAM	snoRNA		T			37344547	+1	no_errors	ENST00000459547	ensembl	human	novel	70_37	rna	SNP	0.334	C
EPHX2	2053	genome.wustl.edu	37	8	27398141	27398141	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:27398141C>G	ENST00000521400.1	+	15	1777	c.1347C>G	c.(1345-1347)ttC>ttG	p.F449L	EPHX2_ENST00000521780.1_Missense_Mutation_p.F383L|EPHX2_ENST00000517536.1_Missense_Mutation_p.F266L|EPHX2_ENST00000518379.1_Missense_Mutation_p.F417L|EPHX2_ENST00000380476.3_Missense_Mutation_p.F396L	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	449	Epoxide hydrolase.				arachidonic acid metabolic process (GO:0019369)|cellular calcium ion homeostasis (GO:0006874)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|inflammatory response (GO:0006954)|phospholipid dephosphorylation (GO:0046839)|positive regulation of gene expression (GO:0010628)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|regulation of blood pressure (GO:0008217)|regulation of cholesterol metabolic process (GO:0090181)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|stilbene catabolic process (GO:0046272)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)	10-hydroxy-9-(phosphonooxy)octadecanoate phosphatase activity (GO:0033885)|epoxide hydrolase activity (GO:0004301)|lipid phosphatase activity (GO:0042577)|magnesium ion binding (GO:0000287)|phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxic substance binding (GO:0015643)	p.F449L(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)		AAATCCAGTTCTATGTGCAGC	0.493																																																	1	Substitution - Missense(1)	cervix(1)											99.0	97.0	98.0					8																	27398141		2203	4300	6503	SO:0001583	missense	2053			L05779	CCDS6060.1, CCDS59097.1, CCDS59098.1	8p21	2010-04-23			ENSG00000120915	ENSG00000120915	3.3.2.10		3402	protein-coding gene	gene with protein product		132811					Standard	NM_001979		Approved		uc003xfu.4	P34913	OTTHUMG00000102115	ENST00000521400.1:c.1347C>G	8.37:g.27398141C>G	ENSP00000430269:p.Phe449Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2Z3B1|B3KTU8|B3KUA0|G3V134|J3KPH7|Q16764|Q9HBJ1|Q9HBJ2	Missense_Mutation	SNP	pfam_AB_hydrolase_1,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Epox_hydrolase-like,prints_Haloacid_DH/epoxide_hydro,prints_AB_hydrolase_1,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.F449L	ENST00000521400.1	37	c.1347	CCDS6060.1	8	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327769	0.81690	.	.	ENSG00000120915	ENST00000521400;ENST00000517536;ENST00000521780;ENST00000380476;ENST00000415449;ENST00000518379	T;T;T;T;T	0.61627	0.09;0.09;0.09;0.09;0.09	5.79	4.9	0.64082	Alpha/beta hydrolase fold-1 (1);	0.278556	0.41712	D	0.000837	T	0.60728	0.2291	M	0.68317	2.08	0.46396	D	0.999029	P;P	0.40431	0.633;0.717	B;P	0.45506	0.285;0.483	T	0.63888	-0.6535	10	0.62326	D	0.03	-12.5155	9.9511	0.41638	0.0:0.9053:0.0:0.0947	.	417;449	E5RFU2;P34913	.;HYES_HUMAN	L	449;266;383;396;396;417	ENSP00000430269:F449L;ENSP00000428875:F266L;ENSP00000430302:F383L;ENSP00000369843:F396L;ENSP00000427956:F417L	ENSP00000369843:F396L	F	+	3	2	EPHX2	27454058	1.000000	0.71417	0.998000	0.56505	0.982000	0.71751	2.358000	0.44134	1.416000	0.47057	0.455000	0.32223	TTC	EPHX2	-	pfam_AB_hydrolase_1		0.493	EPHX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHX2	HGNC	protein_coding	OTTHUMT00000219954.4	C			27398141	+1	no_errors	ENST00000521400	ensembl	human	known	70_37	missense	SNP	0.970	G
ERP44	23071	genome.wustl.edu	37	9	102782991	102782991	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:102782991C>G	ENST00000262455.6	-	6	693	c.494G>C	c.(493-495)gGa>gCa	p.G165A		NM_015051.1	NP_055866.1	Q9BS26	ERP44_HUMAN	endoplasmic reticulum protein 44	165					cell redox homeostasis (GO:0045454)|glycoprotein metabolic process (GO:0009100)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	protein disulfide isomerase activity (GO:0003756)	p.G165A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CTCAAAATATCCAATGATATT	0.318																																																	1	Substitution - Missense(1)	cervix(1)											86.0	77.0	80.0					9																	102782991		2203	4300	6503	SO:0001583	missense	23071			AB011145	CCDS35082.1	9q22.33	2011-10-19	2009-02-23	2009-02-23	ENSG00000023318	ENSG00000023318		"""Protein disulfide isomerases"""	18311	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 10"""	609170	"""thioredoxin domain containing 4 (endoplasmic reticulum)"""	TXNDC4		11847130	Standard	NM_015051		Approved	KIAA0573, PDIA10	uc004bam.3	Q9BS26	OTTHUMG00000020363	ENST00000262455.6:c.494G>C	9.37:g.102782991C>G	ENSP00000262455:p.Gly165Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O60319|Q4VXC1|Q5VWZ7|Q6UW14|Q8WX67	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Calsequestrin,superfamily_Thioredoxin-like_fold	p.G165A	ENST00000262455.6	37	c.494	CCDS35082.1	9	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989586	0.53934	.	.	ENSG00000023318	ENST00000262455	D	0.92149	-2.98	5.48	5.48	0.80851	Thioredoxin-like fold (2);	0.142255	0.64402	D	0.000005	D	0.90448	0.7009	L	0.46947	1.48	0.80722	D	1	B	0.23735	0.09	B	0.29524	0.103	D	0.86476	0.1788	10	0.33940	T	0.23	-6.726	19.4081	0.94656	0.0:1.0:0.0:0.0	.	165	Q9BS26	ERP44_HUMAN	A	165	ENSP00000262455:G165A	ENSP00000262455:G165A	G	-	2	0	ERP44	101822812	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.603000	0.61105	2.590000	0.87494	0.551000	0.68910	GGA	ERP44	-	pfam_Calsequestrin,superfamily_Thioredoxin-like_fold		0.318	ERP44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP44	HGNC	protein_coding	OTTHUMT00000053402.1	C	XM_088476		102782991	-1	no_errors	ENST00000262455	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM122C	159091	genome.wustl.edu	37	X	133941542	133941542	+	5'UTR	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:133941542C>A	ENST00000370784.4	+	0	320				FAM122C_ENST00000445123.1_Intron|FAM122C_ENST00000370785.3_5'UTR|FAM122C_ENST00000414371.2_Intron|FAM122C_ENST00000475361.1_3'UTR	NM_001170779.1	NP_001164250.1	Q6P4D5	F222C_HUMAN	family with sequence similarity 122C											endometrium(2)|kidney(1)|lung(2)	5	Acute lymphoblastic leukemia(192;0.000127)					CTTTGCCTCTCTCCTTACATC	0.527																																																	0													30.0	25.0	26.0					X																	133941542		692	1591	2283	SO:0001623	5_prime_UTR_variant	159091			BC017868	CCDS14644.1, CCDS55500.1, CCDS55501.1, CCDS76028.1	Xq26.3	2008-02-05	2006-07-11		ENSG00000156500	ENSG00000156500			25202	protein-coding gene	gene with protein product						12477932	Standard	NM_138819		Approved	RP3-473B4.1	uc004exz.2	Q6P4D5	OTTHUMG00000022716	ENST00000370784.4:c.-87C>A	X.37:g.133941542C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H036|Q8WVK9	RNA	SNP	-	NULL	ENST00000370784.4	37	NULL	CCDS55501.1	X																																																																																			FAM122C	-	-		0.527	FAM122C-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM122C	HGNC	protein_coding		C	NM_138819		133941542	+1	no_errors	ENST00000470657	ensembl	human	known	70_37	rna	SNP	0.000	A
FAN1	22909	genome.wustl.edu	37	15	31197561	31197561	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:31197561G>A	ENST00000362065.4	+	2	986	c.695G>A	c.(694-696)aGa>aAa	p.R232K	FAN1_ENST00000561594.1_Missense_Mutation_p.R232K|FAN1_ENST00000565466.1_Missense_Mutation_p.R232K|FAN1_ENST00000561607.1_Missense_Mutation_p.R232K	NM_014967.4	NP_055782.3	Q9Y2M0	FAN1_HUMAN	FANCD2/FANCI-associated nuclease 1	232					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA incision (GO:0033683)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|5'-flap endonuclease activity (GO:0017108)|DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphodiesterase I activity (GO:0004528)|ubiquitin binding (GO:0043130)	p.R232K(1)		autonomic_ganglia(2)|breast(2)|cervix(2)|endometrium(7)|kidney(1)|large_intestine(6)|lung(8)|skin(1)	29						CATATGGTAAGAGGAAGTAAA	0.403								Direct reversal of damage																																									1	Substitution - Missense(1)	cervix(1)											53.0	51.0	52.0					15																	31197561		2202	4300	6502	SO:0001583	missense	22909				CCDS32186.1, CCDS58344.1	15q13.2-q13.3	2010-08-04	2010-08-04	2010-08-04		ENSG00000198690			29170	protein-coding gene	gene with protein product		613534	"""KIAA1018"", ""myotubularin related protein 15"""	KIAA1018, MTMR15		20603015, 20603016, 20603073	Standard	NM_014967		Approved		uc001zff.3	Q9Y2M0		ENST00000362065.4:c.695G>A	15.37:g.31197561G>A	ENSP00000354497:p.Arg232Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4M2|Q86WU8	Missense_Mutation	SNP	pfam_VRR_NUC,smart_Znf_Rad18_put	p.R232K	ENST00000362065.4	37	c.695	CCDS32186.1	15	.	.	.	.	.	.	.	.	.	.	G	9.988	1.230106	0.22542	.	.	ENSG00000198690	ENST00000362065	T	0.37915	1.17	5.18	-4.44	0.03557	.	0.543081	0.20065	N	0.100000	T	0.12689	0.0308	N	0.19112	0.55	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.06405	0.0;0.002	T	0.28299	-1.0048	10	0.08837	T	0.75	-0.0365	1.0101	0.01495	0.3259:0.1203:0.3178:0.236	.	232;232	Q9Y2M0;Q9Y2M0-2	FAN1_HUMAN;.	K	232	ENSP00000354497:R232K	ENSP00000354497:R232K	R	+	2	0	FAN1	28984853	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.011000	0.12721	-1.018000	0.03363	-0.136000	0.14681	AGA	FAN1	-	NULL		0.403	FAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAN1	HGNC	protein_coding	OTTHUMT00000430740.1	G	NM_014967		31197561	+1	no_errors	ENST00000362065	ensembl	human	known	70_37	missense	SNP	0.000	A
FANCD2	2177	genome.wustl.edu	37	3	10142946	10142946	+	Nonstop_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:10142946G>C	ENST00000419585.1	+	44	4517	c.4356G>C	c.(4354-4356)taG>taC	p.*1452Y	FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383807.1_Nonstop_Mutation_p.*1452Y			Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	0					DNA repair (GO:0006281)|gamete generation (GO:0007276)|response to gamma radiation (GO:0010332)|synapsis (GO:0007129)	condensed chromosome (GO:0000793)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA polymerase binding (GO:0070182)	p.*1452Y(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ACTCTGATTAGACCCCAGATA	0.408			"""D, Mis, N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia D2	3	3p26	2177	"""Fanconi anemia, complementation group D2"""		L	1	Nonstop extension(1)	cervix(1)											201.0	181.0	187.0					3																	10142946		2203	4300	6503	SO:0001578	stop_lost	2177	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AF340183	CCDS2595.1, CCDS33696.1	3p25.3	2014-09-17		2001-10-05	ENSG00000144554	ENSG00000144554		"""Fanconi anemia, complementation groups"""	3585	protein-coding gene	gene with protein product		613984		FACD, FANCD		7581463, 11239453, 18475298	Standard	XM_005264946		Approved	FAD, FA-D2	uc003buw.3	Q9BXW9	OTTHUMG00000128670	ENST00000419585.1:c.4356G>C	3.37:g.10142946G>C	ENSP00000398754:p.*1452Tyrext*120	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2LA86|Q69YP9|Q6PJN7|Q9BQ06|Q9H9T9	Nonstop_Mutation	SNP	superfamily_ARM-type_fold	p.*1452Y	ENST00000419585.1	37	c.4356	CCDS33696.1	3	.	.	.	.	.	.	.	.	.	.	G	14.01	2.408287	0.42715	.	.	ENSG00000144554	ENST00000383807;ENST00000419585	.	.	.	4.88	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.3059	0.37874	0.0979:0.0:0.9021:0.0	.	.	.	.	Y	1452	.	.	X	+	3	2	FANCD2	10117946	0.996000	0.38824	0.167000	0.22817	0.072000	0.16883	2.366000	0.44204	1.437000	0.47472	0.650000	0.86243	TAG	FANCD2	-	NULL		0.408	FANCD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2	HGNC	protein_coding	OTTHUMT00000339873.1	G			10142946	+1	no_errors	ENST00000383807	ensembl	human	known	70_37	nonstop	SNP	0.744	C
FASN	2194	genome.wustl.edu	37	17	80038078	80038078	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:80038078C>T	ENST00000306749.2	-	41	7302	c.7084G>A	c.(7084-7086)Gag>Aag	p.E2362K	FASN_ENST00000579758.1_Intron	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2362	Thioesterase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.E2362K(1)		central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GTCTCAGCCTCAGCCTCACAG	0.642																																					Colon(59;314 1043 11189 28578 32273)												1	Substitution - Missense(1)	cervix(1)											118.0	101.0	107.0					17																	80038078		2202	4300	6502	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.7084G>A	17.37:g.80038078C>T	ENSP00000304592:p.Glu2362Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E2362K	ENST00000306749.2	37	c.7084	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.989131	0.74589	.	.	ENSG00000169710	ENST00000306749	T	0.26810	1.71	4.68	4.68	0.58851	Fatty acid synthase, domain 2 (1);Thioesterase (1);	0.062510	0.64402	D	0.000008	T	0.46464	0.1394	M	0.80746	2.51	0.80722	D	1	D	0.57257	0.979	P	0.54270	0.747	T	0.47736	-0.9094	10	0.35671	T	0.21	-34.5479	17.7539	0.88444	0.0:1.0:0.0:0.0	.	2362	P49327	FAS_HUMAN	K	2362	ENSP00000304592:E2362K	ENSP00000304592:E2362K	E	-	1	0	FASN	77631367	1.000000	0.71417	0.664000	0.29753	0.098000	0.18820	4.587000	0.60991	2.430000	0.82344	0.591000	0.81541	GAG	FASN	-	pfam_Thioesterase		0.642	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80038078	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	1.000	T
FBN1	2200	genome.wustl.edu	37	15	48703267	48703267	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:48703267C>T	ENST00000316623.5	-	66	8991	c.8536G>A	c.(8536-8538)Gaa>Aaa	p.E2846K	FBN1_ENST00000561429.1_5'Flank	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2846					extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|kidney development (GO:0001822)|sequestering of BMP in extracellular matrix (GO:0035582)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|skeletal system development (GO:0001501)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.E2846K(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TATTTGTCTTCTAGTTGGTTA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											119.0	119.0	119.0					15																	48703267		2198	4297	6495	SO:0001583	missense	2200			X63556	CCDS32232.1	15q21.1	2014-09-17	2006-04-25			ENSG00000166147			3603	protein-coding gene	gene with protein product	"""Marfan syndrome"""	134797	"""fibrillin 1 (Marfan syndrome)"""	FBN, MFS1, WMS		10036187, 12525539	Standard	NM_000138		Approved	MASS, OCTD, SGS	uc001zwx.2	P35555		ENST00000316623.5:c.8536G>A	15.37:g.48703267C>T	ENSP00000325527:p.Glu2846Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUU0|D2JYH6|Q15972|Q75N87	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.E2846K	ENST00000316623.5	37	c.8536	CCDS32232.1	15	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264525	0.80358	.	.	ENSG00000166147	ENST00000316623	D	0.82893	-1.66	5.57	4.64	0.57946	.	0.093937	0.64402	D	0.000001	T	0.81898	0.4920	M	0.73962	2.25	0.80722	D	1	P	0.37061	0.58	B	0.31946	0.138	T	0.82999	-0.0178	10	0.51188	T	0.08	.	16.3658	0.83321	0.0:0.8676:0.1324:0.0	.	2846	P35555	FBN1_HUMAN	K	2846	ENSP00000325527:E2846K	ENSP00000325527:E2846K	E	-	1	0	FBN1	46490559	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.887000	0.63156	1.469000	0.48083	0.650000	0.86243	GAA	FBN1	-	pirsf_FBN		0.383	FBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN1	HGNC	protein_coding	OTTHUMT00000417355.1	C			48703267	-1	no_errors	ENST00000316623	ensembl	human	known	70_37	missense	SNP	1.000	T
FDPS	2224	genome.wustl.edu	37	1	155279951	155279951	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:155279951G>C	ENST00000356657.6	+	3	456	c.294G>C	c.(292-294)gaG>gaC	p.E98D	FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Missense_Mutation_p.E98D|FDPS_ENST00000447866.1_Missense_Mutation_p.E32D	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	98					cholesterol biosynthetic process (GO:0006695)|farnesyl diphosphate biosynthetic process (GO:0045337)|geranyl diphosphate biosynthetic process (GO:0033384)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	dimethylallyltranstransferase activity (GO:0004161)|geranyltranstransferase activity (GO:0004337)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.E98D(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGAGGATGAGATGGGGCACC	0.502																																																	1	Substitution - Missense(1)	cervix(1)											65.0	65.0	65.0					1																	155279951		2203	4300	6503	SO:0001583	missense	2224			J05262	CCDS1110.1, CCDS44241.1, CCDS72940.1	1q22	2012-07-13	2010-06-24		ENSG00000160752	ENSG00000160752	2.5.1.1, 2.5.1.10		3631	protein-coding gene	gene with protein product	"""farnesyl pyrophosphate synthetase, dimethylallyltranstransferase, geranyltranstransferase"""	134629				1968462	Standard	NM_002004		Approved		uc001fkc.2	P14324	OTTHUMG00000013909	ENST00000356657.6:c.294G>C	1.37:g.155279951G>C	ENSP00000349078:p.Glu98Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV91|E9PCI9|Q96G29	Missense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.E98D	ENST00000356657.6	37	c.294	CCDS1110.1	1	.	.	.	.	.	.	.	.	.	.	G	10.82	1.457505	0.26161	.	.	ENSG00000160752	ENST00000447866;ENST00000368356;ENST00000356657	T;T;T	0.63580	-0.05;-0.05;-0.05	4.2	-1.81	0.07882	Terpenoid synthase (2);	0.700825	0.11681	N	0.539880	T	0.12902	0.0313	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	10	0.12430	T	0.62	-6.6185	5.1769	0.15139	0.0909:0.4615:0.3286:0.1191	.	98	P14324	FPPS_HUMAN	D	32;98;98	ENSP00000391755:E32D;ENSP00000357340:E98D;ENSP00000349078:E98D	ENSP00000349078:E98D	E	+	3	2	FDPS	153546575	0.000000	0.05858	0.039000	0.18376	0.988000	0.76386	-0.550000	0.06034	-0.445000	0.07159	0.591000	0.81541	GAG	FDPS	-	superfamily_Terpenoid_synth		0.502	FDPS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FDPS	HGNC	protein_coding	OTTHUMT00000039053.1	G	NM_002004		155279951	+1	no_errors	ENST00000356657	ensembl	human	known	70_37	missense	SNP	0.014	C
FDXR	2232	genome.wustl.edu	37	17	72862305	72862305	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:72862305C>T	ENST00000293195.5	-	5	533	c.455G>A	c.(454-456)tGc>tAc	p.C152Y	FDXR_ENST00000413947.2_Missense_Mutation_p.C183Y|FDXR_ENST00000581530.1_Missense_Mutation_p.C152Y|FDXR_ENST00000582944.1_Missense_Mutation_p.C144Y|FDXR_ENST00000420580.2_Missense_Mutation_p.C112Y|FDXR_ENST00000583917.1_Missense_Mutation_p.C153Y|FDXR_ENST00000544854.1_Missense_Mutation_p.C100Y|FDXR_ENST00000442102.2_Missense_Mutation_p.C195Y|FDXR_ENST00000455107.2_Missense_Mutation_p.C108Y|FDXR_ENST00000581969.1_5'UTR	NM_001258014.1|NM_004110.3|NM_024417.2	NP_001244943.1|NP_004101.2|NP_077728.2	P22570	ADRO_HUMAN	ferredoxin reductase	152					cholesterol metabolic process (GO:0008203)|generation of precursor metabolites and energy (GO:0006091)|NADPH oxidation (GO:0070995)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ferredoxin-NADP+ reductase activity (GO:0004324)|NADPH binding (GO:0070402)|NADPH-adrenodoxin reductase activity (GO:0015039)	p.C152Y(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)				Flavin adenine dinucleotide(DB03147)	CCGGGCGGAGCACACACCTGG	0.652																																																	2	Substitution - Missense(2)	cervix(2)											56.0	64.0	61.0					17																	72862305		2203	4300	6503	SO:0001583	missense	2232			J03826	CCDS11707.1, CCDS58591.1, CCDS58592.1, CCDS58593.1, CCDS58594.1, CCDS58595.1, CCDS58596.1	17q25.1	2013-06-18			ENSG00000161513	ENSG00000161513	1.18.1.6		3642	protein-coding gene	gene with protein product	"""adrenodoxin-NADP(+) reductase"", ""adrenodoxin reductase"""	103270		ADXR		2969697	Standard	NM_001258014		Approved		uc010wrl.2	P22570	OTTHUMG00000179026	ENST00000293195.5:c.455G>A	17.37:g.72862305C>T	ENSP00000293195:p.Cys152Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDI7|B4DHX5|B4DQQ4|B4DX24|B7Z7G2|E7EQC1|Q13716|Q4PJI0|Q9BU12	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD	p.C152Y	ENST00000293195.5	37	c.455	CCDS58593.1	17	.	.	.	.	.	.	.	.	.	.	C	1.463	-0.561896	0.03939	.	.	ENSG00000161513	ENST00000420580;ENST00000544854;ENST00000293195;ENST00000455107;ENST00000442102;ENST00000413947	T;T;T;T;D;T	0.82893	2.45;2.45;2.45;2.45;-1.66;2.45	4.96	1.41	0.22369	.	0.941057	0.09057	N	0.854904	T	0.38639	0.1048	N	0.00031	-2.6	0.09310	N	1	B;B;B;B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0	T	0.49011	-0.8983	10	0.02654	T	1	-19.6808	6.1853	0.20493	0.549:0.2261:0.0:0.225	.	112;195;183;150;100;183;152;144;152;152	B4DQQ4;B4DHX5;E7EQC1;B4DDI9;B7Z7G2;B4DDI7;Q6GSK2;B4DX24;P22570;P22570-2	.;.;.;.;.;.;.;.;ADRO_HUMAN;.	Y	112;100;152;108;195;183	ENSP00000414172:C112Y;ENSP00000445432:C100Y;ENSP00000293195:C152Y;ENSP00000390875:C108Y;ENSP00000416515:C195Y;ENSP00000408595:C183Y	ENSP00000293195:C152Y	C	-	2	0	FDXR	70373900	0.626000	0.27120	0.000000	0.03702	0.028000	0.11728	2.317000	0.43770	-0.039000	0.13602	-1.388000	0.01159	TGC	FDXR	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.652	FDXR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FDXR	HGNC	protein_coding	OTTHUMT00000444449.1	C	NM_004110		72862305	-1	no_errors	ENST00000581530	ensembl	human	known	70_37	missense	SNP	0.080	T
FGD4	121512	genome.wustl.edu	37	12	32735220	32735220	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:32735220C>T	ENST00000427716.2	+	4	843	c.419C>T	c.(418-420)gCa>gTa	p.A140V	FGD4_ENST00000525053.1_Missense_Mutation_p.A252V|FGD4_ENST00000472289.1_Missense_Mutation_p.A140V|FGD4_ENST00000266482.3_5'UTR|FGD4_ENST00000534526.2_Missense_Mutation_p.A277V|FGD4_ENST00000531134.1_Missense_Mutation_p.A225V|FGD4_ENST00000546442.1_Missense_Mutation_p.A47V	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	140	Actin filament-binding. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|microspike assembly (GO:0030035)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)	p.A140V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					ACAGCTCCTGCATCACCCACA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											105.0	97.0	99.0					12																	32735220		2203	4300	6503	SO:0001583	missense	121512			AK057294	CCDS8727.1	12p11.1	2014-09-17	2004-08-24		ENSG00000139132	ENSG00000139132		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	19125	protein-coding gene	gene with protein product		611104	"""FGD1 family, member 4"""			11527409	Standard	NM_139241		Approved	FRABP, frabin, ZFYVE6, CMT4H	uc001rkz.3	Q96M96	OTTHUMG00000137374	ENST00000427716.2:c.419C>T	12.37:g.32735220C>T	ENSP00000394487:p.Ala140Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ULS2|Q8TCP6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.A140V	ENST00000427716.2	37	c.419	CCDS8727.1	12	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761629	0.31228	.	.	ENSG00000139132	ENST00000534526;ENST00000531134;ENST00000472289;ENST00000427716;ENST00000546442;ENST00000525053;ENST00000395742	T;T;T;T;T	0.70516	-0.49;-0.47;-0.47;-0.46;-0.48	5.04	4.14	0.48551	.	0.278614	0.25540	N	0.029962	T	0.71542	0.3352	N	0.24115	0.695	0.28911	N	0.892688	B;B;B;D	0.71674	0.005;0.005;0.0;0.998	B;B;B;D	0.66979	0.003;0.003;0.001;0.948	T	0.67389	-0.5683	10	0.66056	D	0.02	-10.5258	10.8131	0.46559	0.1894:0.8106:0.0:0.0	.	252;225;140;140	E9PJX4;B7Z493;Q96M96;E9PQT1	.;.;FGD4_HUMAN;.	V	277;225;140;140;47;252;121	ENSP00000449273:A277V;ENSP00000431323:A225V;ENSP00000394487:A140V;ENSP00000446695:A47V;ENSP00000433666:A252V	ENSP00000379089:A140V	A	+	2	0	FGD4	32626487	0.001000	0.12720	0.178000	0.23040	0.019000	0.09904	0.428000	0.21395	1.102000	0.41551	-0.309000	0.09137	GCA	FGD4	-	NULL		0.498	FGD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD4	HGNC	protein_coding	OTTHUMT00000268017.1	C	NM_139241		32735220	+1	no_errors	ENST00000427716	ensembl	human	known	70_37	missense	SNP	0.194	T
FUNDC1	139341	genome.wustl.edu	37	X	44383368	44383368	+	3'UTR	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:44383368G>C	ENST00000378045.4	-	0	712				FUNDC1_ENST00000483115.1_5'UTR	NM_173794.3	NP_776155.1	Q8IVP5	FUND1_HUMAN	FUN14 domain containing 1						mitochondrion degradation (GO:0000422)|response to hypoxia (GO:0001666)	integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial outer membrane (GO:0005741)				breast(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	6						CTGGCAGTATGACTTTTGAGA	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	139341			BC042813	CCDS14263.1	Xp11.4	2005-09-22			ENSG00000069509	ENSG00000069509			28746	protein-coding gene	gene with protein product		300871				12477932	Standard	NM_173794		Approved	MGC51029	uc004dgc.3	Q8IVP5	OTTHUMG00000021399	ENST00000378045.4:c.*76C>G	X.37:g.44383368G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000378045.4	37	NULL	CCDS14263.1	X																																																																																			FUNDC1	-	-		0.418	FUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC1	HGNC	protein_coding	OTTHUMT00000056320.1	G	NM_173794		44383368	-1	no_errors	ENST00000483115	ensembl	human	known	70_37	rna	SNP	0.000	C
GABRG2	2566	genome.wustl.edu	37	5	161520913	161520913	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:161520913G>A	ENST00000361925.4	+	2	407	c.187G>A	c.(187-189)Gag>Aag	p.E63K	GABRG2_ENST00000414552.2_Missense_Mutation_p.E63K|GABRG2_ENST00000393933.4_5'UTR|GABRG2_ENST00000356592.3_Missense_Mutation_p.E63K			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	63					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.E63K(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	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)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AAAAGTTCCTGAGGGTGATGT	0.388																																																	1	Substitution - Missense(1)	cervix(1)											149.0	145.0	147.0					5																	161520913		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.187G>A	5.37:g.161520913G>A	ENSP00000354651:p.Glu63Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E63K	ENST00000361925.4	37	c.187	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491122	0.84962	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925	T;T;T	0.80393	-1.37;-0.86;-1.37	5.82	5.82	0.92795	.	0.048448	0.85682	D	0.000000	T	0.81823	0.4904	L	0.49778	1.585	0.80722	D	1	P;B;B	0.44946	0.846;0.311;0.438	P;B;B	0.46419	0.516;0.097;0.381	T	0.79480	-0.1786	10	0.34782	T	0.22	.	20.1086	0.97902	0.0:0.0:1.0:0.0	.	63;63;63	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	K	63	ENSP00000349000:E63K;ENSP00000410732:E63K;ENSP00000354651:E63K	ENSP00000349000:E63K	E	+	1	0	GABRG2	161453491	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.521000	0.81832	2.756000	0.94617	0.563000	0.77884	GAG	GABRG2	-	prints_GABBAg_rcpt		0.388	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	G			161520913	+1	no_errors	ENST00000356592	ensembl	human	known	70_37	missense	SNP	1.000	A
GABRG3	2567	genome.wustl.edu	37	15	27222246	27222246	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:27222246C>T	ENST00000333743.6	+	2	405	c.151C>T	c.(151-153)Ctc>Ttc	p.L51F	GABRG3_ENST00000555083.1_Missense_Mutation_p.L51F	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	51					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|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)	p.L51F(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)	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)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GACTCTTATTCTCAACAAGTT	0.378																																					NSCLC(114;800 1656 7410 37729 45293)												1	Substitution - Missense(1)	cervix(1)											100.0	100.0	100.0					15																	27222246		1836	4080	5916	SO:0001583	missense	2567				CCDS45195.1, CCDS59251.1	15q12	2012-06-22			ENSG00000182256	ENSG00000182256		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4088	protein-coding gene	gene with protein product	"""GABA(G) receptor, gamma 3"""	600233				7601451	Standard	NM_033223		Approved		uc001zbg.2	Q99928	OTTHUMG00000044462	ENST00000333743.6:c.151C>T	15.37:g.27222246C>T	ENSP00000331912:p.Leu51Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V594|Q9HD46|Q9NYT2	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L51F	ENST00000333743.6	37	c.151	CCDS45195.1	15	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679698	0.68042	.	.	ENSG00000182256	ENST00000333743;ENST00000555083	D;D	0.81739	-1.53;-1.53	5.28	4.36	0.52297	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.64402	D	0.000003	D	0.87253	0.6131	M	0.83012	2.62	0.58432	D	0.999994	P;P	0.51933	0.949;0.72	P;P	0.55011	0.766;0.525	D	0.89028	0.3440	10	0.87932	D	0	.	13.1425	0.59442	0.0:0.9222:0.0:0.0778	.	51;51	Q99928;G3V594	GBRG3_HUMAN;.	F	51	ENSP00000331912:L51F;ENSP00000452244:L51F	ENSP00000331912:L51F	L	+	1	0	GABRG3	24804992	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	4.131000	0.57970	1.350000	0.45770	0.557000	0.71058	CTC	GABRG3	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel		0.378	GABRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRG3	HGNC	protein_coding	OTTHUMT00000103584.2	C			27222246	+1	no_errors	ENST00000333743	ensembl	human	known	70_37	missense	SNP	1.000	T
GALNT8	26290	genome.wustl.edu	37	12	4848368	4848368	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:4848368C>T	ENST00000252318.2	+	3	886	c.549C>T	c.(547-549)ctC>ctT	p.L183L	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	183	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						TCCCATCCCTCAGTGTCATTC	0.393																																					Colon(108;631 1558 7270 20097 39846)												0													125.0	112.0	116.0					12																	4848368		2203	4300	6503	SO:0001819	synonymous_variant	26290			AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.549C>T	12.37:g.4848368C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU02	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L183	ENST00000252318.2	37	c.549	CCDS8533.1	12																																																																																			GALNT8	-	NULL		0.393	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	GALNT8	HGNC	protein_coding	OTTHUMT00000388277.2	C	NM_017417		4848368	+1	no_errors	ENST00000252318	ensembl	human	known	70_37	silent	SNP	1.000	T
GBF1	8729	genome.wustl.edu	37	10	104139678	104139678	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:104139678G>A	ENST00000369983.3	+	36	5102	c.4842G>A	c.(4840-4842)gaG>gaA	p.E1614E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1614					COPI coating of Golgi vesicle (GO:0048205)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|post-Golgi vesicle-mediated transport (GO:0006892)|regulation of ARF protein signal transduction (GO:0032012)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)|viral process (GO:0016032)	cis-Golgi network (GO:0005801)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)	p.E1614E(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		GGATGGAGGAGACCCGGATGA	0.552																																																	1	Substitution - coding silent(1)	cervix(1)											96.0	89.0	91.0					10																	104139678		2203	4300	6503	SO:0001819	synonymous_variant	8729			D87435	CCDS7533.1	10q24	2010-02-12	2010-02-12		ENSG00000107862	ENSG00000107862			4181	protein-coding gene	gene with protein product		603698	"""golgi-specific brefeldin A resistance factor 1"""			9828135	Standard	NM_004193		Approved	KIAA0248, ARF1GEF	uc001kux.2	Q92538	OTTHUMG00000018955	ENST00000369983.3:c.4842G>A	10.37:g.104139678G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXX3|Q96CK6|Q96HZ3|Q9H473	Silent	SNP	pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.E1614	ENST00000369983.3	37	c.4842	CCDS7533.1	10																																																																																			GBF1	-	NULL		0.552	GBF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBF1	HGNC	protein_coding	OTTHUMT00000050051.1	G			104139678	+1	no_errors	ENST00000369983	ensembl	human	known	70_37	silent	SNP	1.000	A
GCM2	9247	genome.wustl.edu	37	6	10876766	10876766	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:10876766G>T	ENST00000379491.4	-	3	515	c.368C>A	c.(367-369)tCt>tAt	p.S123Y	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	123					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|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 (GO:0043565)	p.S123Y(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				CTCCAAAGCAGAATGACAGTT	0.507																																																	1	Substitution - Missense(1)	cervix(1)											95.0	81.0	86.0					6																	10876766		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.368C>A	6.37:g.10876766G>T	ENSP00000368805:p.Ser123Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.S123Y	ENST00000379491.4	37	c.368	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	G	27.8	4.867922	0.91587	.	.	ENSG00000124827	ENST00000379491	T	0.74421	-0.84	5.69	5.69	0.88448	.	0.163919	0.56097	D	0.000032	T	0.78572	0.4304	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.70016	0.967	T	0.80226	-0.1470	10	0.72032	D	0.01	-9.756	19.8215	0.96599	0.0:0.0:1.0:0.0	.	123	O75603	GCM2_HUMAN	Y	123	ENSP00000368805:S123Y	ENSP00000368805:S123Y	S	-	2	0	GCM2	10984752	1.000000	0.71417	0.043000	0.18650	0.968000	0.65278	7.627000	0.83176	2.679000	0.91253	0.650000	0.86243	TCT	GCM2	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.507	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	G			10876766	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	0.993	T
GDF6	392255	genome.wustl.edu	37	8	97157727	97157727	+	Silent	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:97157727C>A	ENST00000287020.5	-	2	531	c.432G>T	c.(430-432)cgG>cgT	p.R144R		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	144					activin receptor signaling pathway (GO:0032924)|apoptotic process (GO:0006915)|BMP signaling pathway (GO:0030509)|growth (GO:0040007)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription, DNA-templated (GO:0045893)|retinal cell apoptotic process (GO:1990009)	extracellular space (GO:0005615)		p.R144R(1)		breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					ACTTCTGTCTCCGGAGAGGAG	0.572																																																	1	Substitution - coding silent(1)	cervix(1)											20.0	26.0	24.0					8																	97157727		1681	3344	5025	SO:0001819	synonymous_variant	392255				CCDS34926.1	8q22.1	2014-01-29			ENSG00000156466	ENSG00000156466			4221	protein-coding gene	gene with protein product		601147	"""segmentation syndrome 1"""	SGM1		10022976, 18425797	Standard	NM_001001557		Approved	BMP13, KFS, KFS1	uc003yhp.3	Q6KF10	OTTHUMG00000164710	ENST00000287020.5:c.432G>T	8.37:g.97157727C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PI58	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.R144	ENST00000287020.5	37	c.432	CCDS34926.1	8																																																																																			GDF6	-	pfam_TGF-b_N		0.572	GDF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF6	HGNC	protein_coding	OTTHUMT00000379862.2	C	NM_001001557		97157727	-1	no_errors	ENST00000287020	ensembl	human	known	70_37	silent	SNP	1.000	A
GDF7	151449	genome.wustl.edu	37	2	20871110	20871110	+	Silent	SNP	C	C	G	rs535810550		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:20871110C>G	ENST00000272224.3	+	2	1854	c.1278C>G	c.(1276-1278)ctC>ctG	p.L426L		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	426					activin receptor signaling pathway (GO:0032924)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|branching morphogenesis of an epithelial tube (GO:0048754)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|forebrain morphogenesis (GO:0048853)|gland morphogenesis (GO:0022612)|growth (GO:0040007)|midbrain development (GO:0030901)|morphogenesis of an epithelial fold (GO:0060571)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of tendon cell differentiation (GO:2001051)|positive regulation of transcription, DNA-templated (GO:0045893)|reproductive structure development (GO:0048608)|roof plate formation (GO:0021509)|spinal cord association neuron differentiation (GO:0021527)	extracellular space (GO:0005615)		p.L426L(1)		breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCAGCATCCTCTACATCGACG	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14407	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)											44.0	40.0	41.0					2																	20871110		2203	4300	6503	SO:0001819	synonymous_variant	151449			AF522369	CCDS1701.1	2p24.1	2008-05-22			ENSG00000143869	ENSG00000143869			4222	protein-coding gene	gene with protein product		604651				10022976, 9808626	Standard	NM_182828		Approved	BMP12	uc002rdz.1	Q7Z4P5	OTTHUMG00000090781	ENST00000272224.3:c.1278C>G	2.37:g.20871110C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.L426	ENST00000272224.3	37	c.1278	CCDS1701.1	2																																																																																			GDF7	-	pfam_TGF-b_C,smart_TGF-b_C		0.652	GDF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF7	HGNC	protein_coding	OTTHUMT00000207563.2	C	NM_182828		20871110	+1	no_errors	ENST00000272224	ensembl	human	known	70_37	silent	SNP	1.000	G
GDI1	2664	genome.wustl.edu	37	X	153670074	153670074	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:153670074C>G	ENST00000447750.2	+	8	1259	c.924C>G	c.(922-924)atC>atG	p.I308M	FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	308					negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)	p.I308M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCACCCCATCAAGAACACCA	0.582																																																	1	Substitution - Missense(1)	cervix(1)											170.0	141.0	151.0					X																	153670074		2203	4300	6503	SO:0001583	missense	2664			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.924C>G	X.37:g.153670074C>G	ENSP00000394071:p.Ile308Met	Somatic		WXS	Illumina HiSeq	Phase_IV	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,prints_RabGDI,prints_GDP_dissociation_inhibitor	p.I308M	ENST00000447750.2	37	c.924	CCDS35452.1	X	.	.	.	.	.	.	.	.	.	.	C	20.7	4.039183	0.75617	.	.	ENSG00000203879	ENST00000447750;ENST00000369741	T	0.61627	0.09	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.79851	0.4517	M	0.93197	3.39	0.80722	D	1	D	0.63880	0.993	D	0.77557	0.99	D	0.83770	0.0219	10	0.87932	D	0	-29.2349	9.2646	0.37634	0.0:0.9003:0.0:0.0997	.	308	P31150	GDIA_HUMAN	M	308;292	ENSP00000394071:I308M	ENSP00000358756:I292M	I	+	3	3	GDI1	153323268	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	4.081000	0.57627	2.272000	0.75746	0.529000	0.55759	ATC	GDI1	-	pfam_GDP_dissociation_inhibitor		0.582	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	C	NM_001493		153670074	+1	no_errors	ENST00000447750	ensembl	human	known	70_37	missense	SNP	1.000	G
GEN1	348654	genome.wustl.edu	37	2	17941369	17941369	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:17941369C>T	ENST00000381254.2	+	2	373	c.159C>T	c.(157-159)ctC>ctT	p.L53L	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Silent_p.L53L	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	53	N-domain.				DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|regulation of centrosome duplication (GO:0010824)|resolution of mitotic recombination intermediates (GO:0071140)|resolution of recombination intermediates (GO:0071139)	centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.L53L(1)		breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGCCCCACCTCAGGTATAGTA	0.383								Homologous recombination																																									1	Substitution - coding silent(1)	cervix(1)											71.0	70.0	71.0					2																	17941369		2203	4300	6503	SO:0001819	synonymous_variant	348654			AK098188	CCDS1691.1	2p24.2	2013-06-04	2013-06-04		ENSG00000178295	ENSG00000178295			26881	protein-coding gene	gene with protein product	"""Holliday junction resolvase"""	612449	"""Gen endonuclease homolog 1 (Drosophila)"""			15576351	Standard	NM_182625		Approved	FLJ40869, Gen	uc002rct.2	Q17RS7	OTTHUMG00000121173	ENST00000381254.2:c.159C>T	2.37:g.17941369C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RS9|Q6ZN37	Silent	SNP	pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair	p.L53	ENST00000381254.2	37	c.159	CCDS1691.1	2																																																																																			GEN1	-	pfam_XPG_DNA_repair_N,smart_XPG_DNA_repair_N		0.383	GEN1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GEN1	HGNC	protein_coding	OTTHUMT00000241661.2	C	NM_182625		17941369	+1	no_errors	ENST00000317402	ensembl	human	known	70_37	silent	SNP	0.997	T
GNS	2799	genome.wustl.edu	37	12	65115473	65115473	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:65115473C>T	ENST00000258145.3	-	12	1491	c.1321G>A	c.(1321-1323)Gac>Aac	p.D441N	GNS_ENST00000418919.2_Missense_Mutation_p.D385N|GNS_ENST00000542058.1_Missense_Mutation_p.D421N|GNS_ENST00000543646.1_Missense_Mutation_p.D473N	NM_002076.3	NP_002067.1	P15586	GNS_HUMAN	glucosamine (N-acetyl)-6-sulfatase	441					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)|sulfuric ester hydrolase activity (GO:0008484)	p.D441N(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(4)	15	Lung NSC(1;7.25e-14)|all_lung(1;1.25e-12)		LUAD - Lung adenocarcinoma(6;0.115)	GBM - Glioblastoma multiforme(28;0.0435)		CATACACAGTCTGGGAAGCAT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											149.0	124.0	133.0					12																	65115473		2203	4300	6503	SO:0001583	missense	2799				CCDS8970.1	12q14	2010-05-04	2008-08-01		ENSG00000135677	ENSG00000135677	3.1.6.14		4422	protein-coding gene	gene with protein product	"""Sanfilippo disease IIID"", ""N-acetylglucosamine-6-sulfatase"""	607664					Standard	NM_002076		Approved		uc001ssg.4	P15586	OTTHUMG00000168819	ENST00000258145.3:c.1321G>A	12.37:g.65115473C>T	ENSP00000258145:p.Asp441Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYH8|Q53F05	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase	p.D441N	ENST00000258145.3	37	c.1321	CCDS8970.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.6|27.6	4.843338|4.843338	0.91197|0.91197	.|.	.|.	ENSG00000135677|ENSG00000135677	ENST00000418919;ENST00000258145;ENST00000543646;ENST00000542058;ENST00000539825|ENST00000540196	T;T;T;T|.	0.69806|.	-0.43;-0.43;-0.43;-0.43|.	5.71|5.71	5.71|5.71	0.89125|0.89125	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73513|0.73513	0.3596|0.3596	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;P;P;P|.	0.51537|.	0.531;0.944;0.536;0.946|.	P;P;P;P|.	0.52109|.	0.479;0.69;0.549;0.614|.	T|T	0.68622|0.68622	-0.5360|-0.5360	9|5	.|.	.|.	.|.	-31.9908|-31.9908	20.2469|20.2469	0.98398|0.98398	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	421;473;441;385|.	B4DYH8;F6S8M0;P15586;Q7Z3X3|.	.;.;GNS_HUMAN;.|.	N|K	385;441;473;421;358|226	ENSP00000413130:D385N;ENSP00000258145:D441N;ENSP00000438497:D473N;ENSP00000444819:D421N|.	.|.	D|R	-|-	1|2	0|0	GNS|GNS	63401740|63401740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.974000|0.974000	0.67602|0.67602	7.708000|7.708000	0.84633|0.84633	2.873000|2.873000	0.98535|0.98535	0.561000|0.561000	0.74099|0.74099	GAC|AGA	GNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_GlcNAc_6-SO4ase		0.418	GNS-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GNS	HGNC	protein_coding	OTTHUMT00000401195.2	C			65115473	-1	no_errors	ENST00000258145	ensembl	human	known	70_37	missense	SNP	1.000	T
GPATCH1	55094	genome.wustl.edu	37	19	33587166	33587166	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:33587166C>T	ENST00000170564.2	+	7	980	c.666C>T	c.(664-666)gtC>gtT	p.V222V		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	222					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)	nucleic acid binding (GO:0003676)	p.V222V(1)		breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CCAAAGATGTCACACCTGTGG	0.443																																					Pancreas(67;88 1713 4567 18227)												1	Substitution - coding silent(1)	cervix(1)											121.0	118.0	119.0					19																	33587166		2203	4300	6503	SO:0001819	synonymous_variant	55094			AF434677	CCDS12428.1	19q13.12	2013-01-28		2006-12-13		ENSG00000076650		"""G patch domain containing"""	24658	protein-coding gene	gene with protein product	"""evolutionarily conserved G patch domain containing"""			GPATC1		12477932	Standard	NM_018025		Approved	ECGP, FLJ10206, FLJ38686	uc002nug.1	Q9BRR8		ENST00000170564.2:c.666C>T	19.37:g.33587166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IZV6|Q8N3B7|Q9NW94	Silent	SNP	pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom	p.V222	ENST00000170564.2	37	c.666	CCDS12428.1	19																																																																																			GPATCH1	-	NULL		0.443	GPATCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH1	HGNC	protein_coding	OTTHUMT00000450834.1	C	NM_018025		33587166	+1	no_errors	ENST00000170564	ensembl	human	known	70_37	silent	SNP	1.000	T
GPATCH2	55105	genome.wustl.edu	37	1	217787495	217787495	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:217787495C>T	ENST00000366935.3	-	3	933	c.823G>A	c.(823-825)Gag>Aag	p.E275K	GPATCH2_ENST00000366934.3_Missense_Mutation_p.E275K	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	275					negative regulation of phosphatase activity (GO:0010923)		nucleic acid binding (GO:0003676)	p.E275K(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TGTCTTCCCTCATCATTGGTA	0.348																																																	1	Substitution - Missense(1)	cervix(1)											102.0	102.0	102.0					1																	217787495		2203	4300	6503	SO:0001583	missense	55105			AK001114	CCDS1518.1, CCDS73031.1	1q41	2013-01-28		2006-12-13	ENSG00000092978	ENSG00000092978		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""G patch domain containing"""	25499	protein-coding gene	gene with protein product	"""cancer/testis antigen 110"", ""protein phosphatase 1, regulatory subunit 30"""			GPATC2		19432882, 15375528	Standard	XM_005273174		Approved	FLJ10252, CT110, PPP1R30	uc001hlf.1	Q9NW75	OTTHUMG00000000527	ENST00000366935.3:c.823G>A	1.37:g.217787495C>T	ENSP00000355902:p.Glu275Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYK7|Q5VYK8|Q86YE7	Missense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom	p.E275K	ENST00000366935.3	37	c.823	CCDS1518.1	1	.	.	.	.	.	.	.	.	.	.	C	33	5.231932	0.95207	.	.	ENSG00000092978	ENST00000366935;ENST00000366934	T;T	0.47177	0.85;0.85	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	T	0.72953	0.3525	M	0.80847	2.515	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.75093	-0.3439	10	0.87932	D	0	-15.9836	20.1606	0.98132	0.0:1.0:0.0:0.0	.	275;275	Q9NW75-2;Q9NW75	.;GPTC2_HUMAN	K	275	ENSP00000355902:E275K;ENSP00000355901:E275K	ENSP00000355901:E275K	E	-	1	0	GPATCH2	215854118	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.333000	0.79214	2.772000	0.95346	0.650000	0.86243	GAG	GPATCH2	-	NULL		0.348	GPATCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH2	HGNC	protein_coding	OTTHUMT00000001272.1	C	NM_018040		217787495	-1	no_errors	ENST00000366935	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR128	84873	genome.wustl.edu	37	3	100413635	100413635	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:100413635G>A	ENST00000273352.3	+	16	2452	c.2184G>A	c.(2182-2184)caG>caA	p.Q728Q	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Silent_p.Q433Q	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	728					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.Q728Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AAGTCTTCCAGAGTGAAGCTT	0.408																																					Pancreas(87;185 1975 7223 18722)												1	Substitution - coding silent(1)	cervix(1)											89.0	93.0	92.0					3																	100413635		2203	4300	6503	SO:0001819	synonymous_variant	84873			AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.2184G>A	3.37:g.100413635G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D94|Q86SQ2	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_GPCR_2-like	p.Q728	ENST00000273352.3	37	c.2184	CCDS2938.1	3																																																																																			GPR128	-	NULL		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR128	HGNC	protein_coding	OTTHUMT00000353236.1	G			100413635	+1	no_errors	ENST00000273352	ensembl	human	known	70_37	silent	SNP	0.840	A
GPR173	54328	genome.wustl.edu	37	X	53106338	53106338	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:53106338C>T	ENST00000332582.4	+	2	1026	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	179					negative regulation of neuron migration (GO:2001223)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|gonadotropin-releasing hormone receptor activity (GO:0004968)	p.R179C(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						CTTTGAGCATCGCTACTTCAA	0.552																																																	2	Substitution - Missense(2)	cervix(2)											58.0	52.0	54.0					X																	53106338		2203	4299	6502	SO:0001583	missense	54328			AB040801	CCDS14349.1	Xp11	2012-08-21	2006-02-15		ENSG00000184194	ENSG00000184194		"""GPCR / Class A : Orphans"""	18186	protein-coding gene	gene with protein product		300253	"""G-protein coupled receptor 173"", ""G protein coupled receptor 173"""			10833454	Standard	NM_018969		Approved	SREB3	uc004dru.3	Q9NS66	OTTHUMG00000021596	ENST00000332582.4:c.535C>T	X.37:g.53106338C>T	ENSP00000331600:p.Arg179Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0A5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R179C	ENST00000332582.4	37	c.535	CCDS14349.1	X	.	.	.	.	.	.	.	.	.	.	C	19.12	3.766339	0.69878	.	.	ENSG00000184194	ENST00000332582	T	0.38240	1.15	4.85	4.85	0.62838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.56124	0.1964	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.54938	-0.8218	10	0.38643	T	0.18	-11.252	14.5349	0.67953	0.0:1.0:0.0:0.0	.	179	Q9NS66	GP173_HUMAN	C	179	ENSP00000331600:R179C	ENSP00000331600:R179C	R	+	1	0	GPR173	53123063	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.010000	0.58986	0.529000	0.55759	CGC	GPR173	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	GPR173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR173	HGNC	protein_coding	OTTHUMT00000056717.2	C	NM_018969		53106338	+1	no_errors	ENST00000332582	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR176	11245	genome.wustl.edu	37	15	40099335	40099335	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:40099335G>A	ENST00000561100.1	-	2	1162	c.297C>T	c.(295-297)atC>atT	p.I99I	GPR176_ENST00000560729.1_5'UTR|GPR176_ENST00000299092.3_Silent_p.I98I|GPR176_ENST00000543580.1_Silent_p.I54I	NM_007223.1	NP_009154.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	99					G-protein coupled receptor signaling pathway (GO:0007186)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)	p.I99I(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		TGCTGAGGATGATGTCGAAGG	0.507																																																	1	Substitution - coding silent(1)	cervix(1)											162.0	154.0	157.0					15																	40099335		2203	4300	6503	SO:0001819	synonymous_variant	11245			BC067106	CCDS10051.1, CCDS61588.1, CCDS61589.1	15q14-q15.1	2012-08-21			ENSG00000166073	ENSG00000166073		"""GPCR / Class A : Orphans"""	32370	protein-coding gene	gene with protein product		612183				7893747	Standard	NM_007223		Approved	Gm1012	uc010uck.2	Q14439	OTTHUMG00000129873	ENST00000561100.1:c.297C>T	15.37:g.40099335G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NXF6	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.I99	ENST00000561100.1	37	c.297	CCDS10051.1	15																																																																																			GPR176	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.507	GPR176-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR176	HGNC	protein_coding	OTTHUMT00000252117.2	G	NM_007223		40099335	-1	no_errors	ENST00000561100	ensembl	human	known	70_37	silent	SNP	0.995	A
HAUS5	23354	genome.wustl.edu	37	19	36106006	36106006	+	Silent	SNP	C	C	T	rs570447175		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:36106006C>T	ENST00000203166.5	+	5	307	c.282C>T	c.(280-282)ctC>ctT	p.L94L	AC002115.9_ENST00000589603.1_lincRNA|HAUS5_ENST00000379045.2_Silent_p.L94L	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	94					centrosome organization (GO:0051297)|mitotic nuclear division (GO:0007067)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|HAUS complex (GO:0070652)|microtubule (GO:0005874)		p.L94L(1)		NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						TCCAGGAACTCGACCAGAGCC	0.602													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18169	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)											22.0	27.0	26.0					19																	36106006		2015	4169	6184	SO:0001819	synonymous_variant	23354			AB020648	CCDS42550.1	19q13.12	2012-02-22	2009-04-20	2009-04-20	ENSG00000249115	ENSG00000249115		"""HAUS augmin-like complex subunits"""	29130	protein-coding gene	gene with protein product		613432	"""KIAA0841"""	KIAA0841		10048485, 19427217	Standard	NM_015302		Approved	dgt5	uc002oam.1	O94927	OTTHUMG00000048110	ENST00000203166.5:c.282C>T	19.37:g.36106006C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXK1|Q6P2P7|Q7L3D5|Q96CT8	Silent	SNP	NULL	p.L94	ENST00000203166.5	37	c.282	CCDS42550.1	19																																																																																			HAUS5	-	NULL		0.602	HAUS5-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HAUS5	HGNC	protein_coding	OTTHUMT00000459055.2	C			36106006	+1	no_errors	ENST00000203166	ensembl	human	known	70_37	silent	SNP	0.429	T
HECW2	57520	genome.wustl.edu	37	2	197208446	197208446	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:197208446C>T	ENST00000260983.3	-	3	517	c.335G>A	c.(334-336)gGt>gAt	p.G112D	HECW2_ENST00000409111.1_De_novo_Start_OutOfFrame	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	112					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)	p.G112D(1)		biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						TCCAGTCACACCCCTGTTCTT	0.378																																																	1	Substitution - Missense(1)	cervix(1)											168.0	184.0	179.0					2																	197208446		2203	4300	6503	SO:0001583	missense	57520			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.335G>A	2.37:g.197208446C>T	ENSP00000260983:p.Gly112Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.G112D	ENST00000260983.3	37	c.335	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.656257	0.96724	.	.	ENSG00000138411	ENST00000260983;ENST00000452031;ENST00000427457	T;T;T	0.43688	0.94;0.94;0.94	6.06	6.06	0.98353	.	0.055383	0.64402	D	0.000001	T	0.66577	0.2803	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.66023	-0.6026	10	0.66056	D	0.02	.	19.3923	0.94587	0.0:1.0:0.0:0.0	.	112	Q9P2P5	HECW2_HUMAN	D	112	ENSP00000260983:G112D;ENSP00000409918:G112D;ENSP00000395770:G112D	ENSP00000260983:G112D	G	-	2	0	HECW2	196916691	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.520000	0.81821	2.882000	0.98803	0.655000	0.94253	GGT	HECW2	-	NULL		0.378	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	C	NM_020760		197208446	-1	no_errors	ENST00000260983	ensembl	human	known	70_37	missense	SNP	1.000	T
HELB	92797	genome.wustl.edu	37	12	66696510	66696510	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:66696510G>A	ENST00000247815.4	+	1	186	c.127G>A	c.(127-129)Gac>Aac	p.D43N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	43					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)	p.D43N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		CGTGTTCATCGACGCCGAGGA	0.652																																																	1	Substitution - Missense(1)	cervix(1)											54.0	47.0	50.0					12																	66696510		2203	4300	6503	SO:0001583	missense	92797			AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.127G>A	12.37:g.66696510G>A	ENSP00000247815:p.Asp43Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	NULL	p.D43N	ENST00000247815.4	37	c.127	CCDS8976.1	12	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434908	0.83885	.	.	ENSG00000127311	ENST00000247815	T	0.14516	2.5	5.71	5.71	0.89125	.	0.054766	0.64402	D	0.000002	T	0.35913	0.0948	M	0.65498	2.005	0.42926	D	0.994307	D	0.89917	1.0	D	0.91635	0.999	T	0.01413	-1.1361	9	.	.	.	-24.6126	15.3562	0.74428	0.0:0.0:1.0:0.0	.	43	Q8NG08	HELB_HUMAN	N	43	ENSP00000247815:D43N	.	D	+	1	0	HELB	64982777	0.992000	0.36948	0.910000	0.35882	0.331000	0.28603	4.425000	0.59875	2.706000	0.92434	0.561000	0.74099	GAC	HELB	-	NULL		0.652	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELB	HGNC	protein_coding	OTTHUMT00000401919.1	G			66696510	+1	no_errors	ENST00000247815	ensembl	human	known	70_37	missense	SNP	0.981	A
HFM1	164045	genome.wustl.edu	37	1	91851246	91851246	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:91851246G>A	ENST00000370425.3	-	5	738	c.640C>T	c.(640-642)Cag>Tag	p.Q214*	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	214					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)	p.Q214*(1)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCAGAATACTGAAATTTTTGC	0.358																																																	1	Substitution - Nonsense(1)	cervix(1)											98.0	92.0	94.0					1																	91851246		2203	4300	6503	SO:0001587	stop_gained	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.640C>T	1.37:g.91851246G>A	ENSP00000359454:p.Gln214*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0B6|Q8N9Q0	Nonsense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q214*	ENST00000370425.3	37	c.640	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.714204	0.30413	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	.	.	.	5.93	5.93	0.95920	.	8.814190	0.01748	U	0.029752	.	.	.	.	.	.	0.42367	D	0.992435	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	14.1712	0.65510	0.0:0.0:0.8507:0.1493	.	.	.	.	X	214;247;73;172	.	ENSP00000359454:Q214X	Q	-	1	0	HFM1	91623834	0.011000	0.17503	0.054000	0.19295	0.011000	0.07611	1.686000	0.37669	2.826000	0.97356	0.655000	0.94253	CAG	HFM1	-	NULL		0.358	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91851246	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	nonsense	SNP	0.018	A
HLA-F	3134	genome.wustl.edu	37	6	29691698	29691698	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:29691698G>A	ENST00000376861.1	+	3	712	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HLA-F_ENST00000334668.4_Missense_Mutation_p.E110K|HLA-F_ENST00000259951.7_Missense_Mutation_p.E110K|HLA-F_ENST00000440587.2_5'UTR|HLA-F_ENST00000434407.2_Missense_Mutation_p.E110K			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	110	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|TAP1 binding (GO:0046978)|TAP2 binding (GO:0046979)	p.E110K(2)		cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAACCAGAGCGAGGCTGGTGA	0.677																																																	2	Substitution - Missense(2)	cervix(2)											10.0	11.0	11.0					6																	29691698		1491	2698	4189	SO:0001583	missense	3134			AY253269	CCDS43437.1, CCDS43438.1, CCDS43439.1	6p21.3	2013-01-11			ENSG00000204642	ENSG00000204642		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4963	protein-coding gene	gene with protein product		143110				1688605	Standard	NM_018950		Approved		uc003nno.4	P30511	OTTHUMG00000031156	ENST00000376861.1:c.328G>A	6.37:g.29691698G>A	ENSP00000366057:p.Glu110Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JQI8|Q5JQJ1|Q5SPT5|Q860R0|Q8MGQ1|Q8WLP5|Q95HC0|Q9TP68	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.E110K	ENST00000376861.1	37	c.328	CCDS43438.1	6	.	.	.	.	.	.	.	.	.	.	.	17.59	3.428614	0.62844	.	.	ENSG00000204642	ENST00000376861;ENST00000414333;ENST00000449921;ENST00000334668;ENST00000259951;ENST00000434407	T;T;T;T;T	0.00824	5.65;5.65;5.65;5.65;5.65	1.63	0.44	0.16572	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01254	0.0041	M	0.64630	1.985	0.80722	D	1	D;D;P;P	0.54964	0.969;0.962;0.953;0.953	P;P;P;P	0.61940	0.616;0.745;0.628;0.896	T	0.63786	-0.6558	9	0.66056	D	0.02	.	5.0562	0.14533	0.0:0.3839:0.6161:0.0	.	110;110;110;110	A8MVU7;P30511;P30511-3;P30511-2	.;HLAF_HUMAN;.;.	K	110;110;87;110;110;110	ENSP00000366057:E110K;ENSP00000389590:E110K;ENSP00000334263:E110K;ENSP00000259951:E110K;ENSP00000397376:E110K	ENSP00000259951:E110K	E	+	1	0	HLA-F	29799677	0.003000	0.15002	0.877000	0.34402	0.130000	0.20726	-0.490000	0.06482	0.871000	0.35750	0.436000	0.28706	GAG	HLA-F	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.677	HLA-F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-F	HGNC	protein_coding	OTTHUMT00000195083.1	G	NM_018950		29691698	+1	no_errors	ENST00000259951	ensembl	human	known	70_37	missense	SNP	0.933	A
HNRNPH1	3187	genome.wustl.edu	37	5	179050119	179050119	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:179050119C>T	ENST00000356731.5	-	1	1551	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	HNRNPH1_ENST00000524180.1_5'UTR|HNRNPH1_ENST00000329433.6_Missense_Mutation_p.E6K|HNRNPH1_ENST00000510411.1_Missense_Mutation_p.E6K|HNRNPH1_ENST00000393432.4_Missense_Mutation_p.E6K|HNRNPH1_ENST00000442819.2_Missense_Mutation_p.E6K			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	6					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA splicing (GO:0043484)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)	p.E6K(3)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTCCACCTTCCGTGCCCAAC	0.562																																																	3	Substitution - Missense(3)	cervix(3)											83.0	67.0	72.0					5																	179050119		2203	4300	6503	SO:0001583	missense	3187			BC001348	CCDS4446.1	5q35.3	2013-02-12		2008-04-18	ENSG00000169045	ENSG00000169045		"""RNA binding motif (RRM) containing"""	5041	protein-coding gene	gene with protein product		601035		HNRPH1		7499401	Standard	NM_005520		Approved	hnRNPH	uc003mkf.5	P31943	OTTHUMG00000130908	ENST00000356731.5:c.16G>A	5.37:g.179050119C>T	ENSP00000349168:p.Glu6Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KW86|D3DWQ2|Q6IBM4	Missense_Mutation	SNP	pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom	p.E6K	ENST00000356731.5	37	c.16	CCDS4446.1	5	.	.	.	.	.	.	.	.	.	.	c	18.56	3.650658	0.67472	.	.	ENSG00000169045	ENST00000393432;ENST00000442819;ENST00000356731;ENST00000329433;ENST00000510411;ENST00000503105;ENST00000508103;ENST00000506721;ENST00000523137;ENST00000505811;ENST00000510431;ENST00000519056;ENST00000504348;ENST00000513225;ENST00000515158;ENST00000521116;ENST00000515714;ENST00000503664;ENST00000522256	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.29655	1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;1.56;2.3;1.56;1.56;1.56;1.56;1.56	3.58	3.58	0.41010	.	0.272625	0.41605	D	0.000850	T	0.35451	0.0932	M	0.71036	2.16	0.80722	D	1	B	0.15473	0.013	B	0.20577	0.03	T	0.34576	-0.9823	10	0.46703	T	0.11	-4.8401	15.1215	0.72447	0.0:1.0:0.0:0.0	.	6	P31943	HNRH1_HUMAN	K	6	ENSP00000377082:E6K;ENSP00000397797:E6K;ENSP00000349168:E6K;ENSP00000327539:E6K;ENSP00000426275:E6K;ENSP00000427408:E6K;ENSP00000425732:E6K;ENSP00000420850:E6K;ENSP00000427986:E6K;ENSP00000424087:E6K;ENSP00000423140:E6K;ENSP00000430970:E6K;ENSP00000427388:E6K;ENSP00000426518:E6K;ENSP00000421695:E6K;ENSP00000429661:E6K;ENSP00000425343:E6K;ENSP00000426726:E6K	ENSP00000327539:E6K	E	-	1	0	HNRNPH1	178982725	1.000000	0.71417	0.998000	0.56505	0.537000	0.34900	4.786000	0.62425	1.699000	0.51192	0.491000	0.48974	GAA	HNRNPH1	-	NULL		0.562	HNRNPH1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HNRNPH1	HGNC	protein_coding	OTTHUMT00000253497.3	C	NM_005520		179050119	-1	no_errors	ENST00000356731	ensembl	human	known	70_37	missense	SNP	1.000	T
HOXC5	3222	genome.wustl.edu	37	12	54428265	54428265	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:54428265G>C	ENST00000312492.2	+	2	928	c.658G>C	c.(658-660)Gag>Cag	p.E220Q	HOXC4_ENST00000303406.4_Intron|RP11-834C11.12_ENST00000513209.1_Missense_Mutation_p.E124Q|RP11-834C11.14_ENST00000512206.1_RNA|MIR615_ENST00000384839.1_RNA	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	220					anterior/posterior pattern specification (GO:0009952)|embryonic skeletal system development (GO:0048706)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E220Q(1)		cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						GAAAAGCAAAGAGGCTCTTTA	0.522																																																	1	Substitution - Missense(1)	cervix(1)											32.0	36.0	34.0					12																	54428265		2203	4300	6503	SO:0001583	missense	3222				CCDS8872.1	12q13.13	2011-06-20	2005-12-22		ENSG00000172789	ENSG00000172789		"""Homeoboxes / ANTP class : HOXL subclass"""	5127	protein-coding gene	gene with protein product		142973	"""homeo box C5"""	HOX3D, HOX3		1973146, 1358459	Standard	NM_018953		Approved		uc001sew.3	Q00444	OTTHUMG00000160028	ENST00000312492.2:c.658G>C	12.37:g.54428265G>C	ENSP00000309336:p.Glu220Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.E220Q	ENST00000312492.2	37	c.658	CCDS8872.1	12	.	.	.	.	.	.	.	.	.	.	g	12.17	1.856707	0.32791	.	.	ENSG00000172789	ENST00000312492	D	0.90444	-2.67	4.29	3.39	0.38822	Homeodomain-related (1);	0.340109	0.21375	N	0.075569	D	0.82926	0.5143	N	0.16743	0.435	0.80722	D	1	P	0.35700	0.516	B	0.37267	0.245	T	0.82261	-0.0545	10	0.54805	T	0.06	.	11.4675	0.50248	0.0915:0.0:0.9085:0.0	.	220	Q00444	HXC5_HUMAN	Q	220	ENSP00000309336:E220Q	ENSP00000309336:E220Q	E	+	1	0	HOXC5	52714532	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	8.520000	0.90566	1.148000	0.42385	-0.265000	0.10407	GAG	HOXC5	-	NULL		0.522	HOXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC5	HGNC	protein_coding	OTTHUMT00000358947.1	G			54428265	+1	no_errors	ENST00000312492	ensembl	human	known	70_37	missense	SNP	1.000	C
HOXC4	3221	genome.wustl.edu	37	12	54447709	54447709	+	Start_Codon_SNP	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:54447709G>C	ENST00000430889.2	+	1	49	c.3G>C	c.(1-3)atG>atC	p.M1I	HOXC4_ENST00000303406.4_Start_Codon_SNP_p.M1I|HOXC4_ENST00000609810.1_Start_Codon_SNP_p.M1I	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	1					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.M1I(1)		cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						AGAAATTAATGATCATGAGCT	0.413																																																	1	Substitution - Missense(1)	cervix(1)											69.0	69.0	69.0					12																	54447709		2203	4300	6503	SO:0001582	initiator_codon_variant	3221				CCDS8873.1	12q13.13	2011-06-20	2005-12-22		ENSG00000198353	ENSG00000198353		"""Homeoboxes / ANTP class : HOXL subclass"""	5126	protein-coding gene	gene with protein product		142974	"""homeo box C4"""	HOX3, HOX3E		1973146, 1358459	Standard	NM_014620		Approved		uc001sex.3	P09017	OTTHUMG00000160036	ENST00000430889.2:c.3G>C	12.37:g.54447709G>C	ENSP00000399808:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.M1I	ENST00000430889.2	37	c.3	CCDS8873.1	12	.	.	.	.	.	.	.	.	.	.	G	20.6	4.018258	0.75275	.	.	ENSG00000198353	ENST00000303406;ENST00000430889	D;D	0.91894	-2.93;-2.93	3.41	3.41	0.39046	.	0.000000	0.85682	D	0.000000	D	0.93993	0.8076	.	.	.	0.21652	N	0.999605	P	0.45126	0.851	P	0.55391	0.775	D	0.88555	0.3119	9	0.87932	D	0	.	14.7795	0.69754	0.0:0.0:1.0:0.0	.	1	P09017	HXC4_HUMAN	I	1	ENSP00000305973:M1I;ENSP00000399808:M1I	ENSP00000305973:M1I	M	+	3	0	HOXC4	52733976	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.158000	0.94723	2.187000	0.69744	0.462000	0.41574	ATG	HOXC4	-	NULL		0.413	HOXC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC4	HGNC	protein_coding	OTTHUMT00000358963.1	G		Missense_Mutation	54447709	+1	no_errors	ENST00000303406	ensembl	human	known	70_37	missense	SNP	1.000	C
IGF1R	3480	genome.wustl.edu	37	15	99500353	99500353	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:99500353C>T	ENST00000268035.6	+	21	4397	c.3786C>T	c.(3784-3786)atC>atT	p.I1262I	IGF1R_ENST00000558762.1_Silent_p.I1261I|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1262	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.I1262I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCCTGGAGATCATCAGCAGCA	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											83.0	82.0	82.0					15																	99500353		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3786C>T	15.37:g.99500353C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.I1262	ENST00000268035.6	37	c.3786	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,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		0.587	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99500353	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	T
IGF1R	3480	genome.wustl.edu	37	15	99500356	99500356	+	Silent	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:99500356C>A	ENST00000268035.6	+	21	4400	c.3789C>A	c.(3787-3789)atC>atA	p.I1263I	IGF1R_ENST00000558762.1_Silent_p.I1262I|RP11-654A16.3_ENST00000559468.1_RNA	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1263	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)	p.I1263I(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TGGAGATCATCAGCAGCATCA	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											81.0	81.0	81.0					15																	99500356		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.3789C>A	15.37:g.99500356C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.I1263	ENST00000268035.6	37	c.3789	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,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		0.582	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99500356	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	0.988	A
IGSF22	283284	genome.wustl.edu	37	11	18736049	18736049	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:18736049C>G	ENST00000513874.1	-	12	1793	c.1654G>C	c.(1654-1656)Gag>Cag	p.E552Q	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	552								p.E552Q(2)		NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CTTCAGACCTCCTTGCCATCC	0.622																																																	2	Substitution - Missense(2)	cervix(2)											133.0	146.0	141.0					11																	18736049		2150	4232	6382	SO:0001583	missense	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.1654G>C	11.37:g.18736049C>G	ENSP00000421191:p.Glu552Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNA0|D6RGV7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E552Q	ENST00000513874.1	37	c.1654	CCDS41625.2	11	.	.	.	.	.	.	.	.	.	.	C	15.59	2.879715	0.51801	.	.	ENSG00000179057	ENST00000513874	T	0.46063	0.88	4.54	2.61	0.31194	.	0.188081	0.25648	N	0.029228	T	0.42765	0.1217	L	0.58510	1.815	0.23215	N	0.998108	D	0.63880	0.993	P	0.52957	0.714	T	0.23940	-1.0174	10	0.28530	T	0.3	.	4.2004	0.10464	0.161:0.5931:0.1563:0.0896	.	552	D6RGV7	.	Q	552	ENSP00000421191:E552Q	ENSP00000322422:E552Q	E	-	1	0	IGSF22	18692625	0.998000	0.40836	0.879000	0.34478	0.860000	0.49131	0.786000	0.26844	0.341000	0.23771	0.551000	0.68910	GAG	IGSF22	-	smart_Ig_sub,smart_Ig_sub2		0.622	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	C	NM_173588		18736049	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	missense	SNP	0.999	G
IL1RL2	8808	genome.wustl.edu	37	2	102851514	102851514	+	Silent	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:102851514C>G	ENST00000264257.2	+	11	1581	c.1455C>G	c.(1453-1455)ctC>ctG	p.L485L	IL1RL2_ENST00000539491.1_Silent_p.L485L|IL1RL2_ENST00000441515.2_Silent_p.L367L|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	485	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of T cell differentiation (GO:0045582)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type I, activating receptor activity (GO:0004909)	p.L485L(1)|p.L367L(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AGGTTATTCTCATTGAGCTGG	0.517																																																	2	Substitution - coding silent(2)	cervix(2)											161.0	138.0	146.0					2																	102851514		2203	4300	6503	SO:0001819	synonymous_variant	8808			U49065	CCDS2056.1	2q12	2013-01-14			ENSG00000115598	ENSG00000115598		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5999	protein-coding gene	gene with protein product		604512				8898719, 10191101, 11466363	Standard	NM_003854		Approved	IL1R-rp2, IL1RRP2	uc002tbs.3	Q9HB29	OTTHUMG00000130776	ENST00000264257.2:c.1455C>G	2.37:g.102851514C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU63|Q13525|Q45H74|Q53TU8|Q587I8	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II,prints_IL1R_rcpt	p.L485	ENST00000264257.2	37	c.1455	CCDS2056.1	2																																																																																			IL1RL2	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1		0.517	IL1RL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RL2	HGNC	protein_coding	OTTHUMT00000253290.1	C	NM_003854		102851514	+1	no_errors	ENST00000264257	ensembl	human	known	70_37	silent	SNP	0.929	G
IL20RA	53832	genome.wustl.edu	37	6	137323176	137323176	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:137323176G>A	ENST00000316649.5	-	7	1416	c.1181C>T	c.(1180-1182)cCg>cTg	p.P394L	RP11-204P2.3_ENST00000458017.1_RNA|IL20RA_ENST00000541547.1_Missense_Mutation_p.P345L|IL20RA_ENST00000468393.1_5'Flank|IL20RA_ENST00000367748.1_Missense_Mutation_p.P283L	NM_001278722.1|NM_014432.2	NP_001265651.1|NP_055247	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	394					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of bone resorption (GO:0045124)	integral component of membrane (GO:0016021)		p.P394L(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		TGTTTTATCCGGGGGTATTGT	0.468																																																	1	Substitution - Missense(1)	cervix(1)											79.0	74.0	76.0					6																	137323176		2203	4300	6503	SO:0001583	missense	53832			AF184971	CCDS5181.1, CCDS64535.1, CCDS64536.1	6q23.3	2008-02-05			ENSG00000016402	ENSG00000016402		"""Interleukins and interleukin receptors"""	6003	protein-coding gene	gene with protein product		605620				10875937, 11163236	Standard	NM_001278724		Approved	ZCYTOR7, IL-20R1	uc003qhj.3	Q9UHF4	OTTHUMG00000015654	ENST00000316649.5:c.1181C>T	6.37:g.137323176G>A	ENSP00000314976:p.Pro394Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLR5|F5H675|Q14CW2|Q6UWA9|Q96SH8	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.P394L	ENST00000316649.5	37	c.1181	CCDS5181.1	6	.	.	.	.	.	.	.	.	.	.	G	11.26	1.587281	0.28268	.	.	ENSG00000016402	ENST00000316649;ENST00000367748;ENST00000541547	T;T;T	0.59224	0.55;1.99;0.28	5.96	-0.467	0.12150	.	2.835460	0.00678	N	0.000660	T	0.12646	0.0307	N	0.08118	0	0.09310	N	1	B;B	0.16396	0.011;0.017	B;B	0.09377	0.004;0.004	T	0.06092	-1.0846	10	0.25751	T	0.34	0.671	1.6701	0.02810	0.2357:0.3196:0.3137:0.131	.	283;394	Q9UHF4-2;Q9UHF4	.;I20RA_HUMAN	L	394;283;345	ENSP00000314976:P394L;ENSP00000356722:P283L;ENSP00000437843:P345L	ENSP00000314976:P394L	P	-	2	0	IL20RA	137364869	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.174000	0.09839	0.128000	0.18479	0.655000	0.94253	CCG	IL20RA	-	NULL		0.468	IL20RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL20RA	HGNC	protein_coding	OTTHUMT00000042393.1	G	NM_014432		137323176	-1	no_errors	ENST00000316649	ensembl	human	known	70_37	missense	SNP	0.000	A
IL9R	3581	genome.wustl.edu	37	X	155234190	155234190	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:155234190G>T	ENST00000244174.5	+	5	718	c.539G>T	c.(538-540)aGc>aTc	p.S180I	IL9R_ENST00000369423.2_Missense_Mutation_p.S215I|IL9R_ENST00000424344.3_Missense_Mutation_p.S159I|IL9R_ENST00000540897.1_Missense_Mutation_p.S205I	NM_002186.2	NP_002177.2	Q01113	IL9R_HUMAN	interleukin 9 receptor	180	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell proliferation (GO:0008283)|positive regulation of cell growth (GO:0030307)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)	interleukin-9 receptor activity (GO:0004919)	p.S180I(1)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ACACTTCTCAGCTATGAGCTG	0.582																																																	1	Substitution - Missense(1)	cervix(1)											115.0	101.0	106.0					X																	155234190		2203	4296	6499	SO:0001583	missense	3581			M84747	CCDS14771.4, CCDS59180.1	Xq28 and Yq12	2008-02-05			ENSG00000124334	ENSG00000124334		"""Pseudoautosomal regions / PAR2"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6030	protein-coding gene	gene with protein product		300007				1376929, 8666384	Standard	NM_002186		Approved	CD129	uc004fnv.1	Q01113	OTTHUMG00000022720	ENST00000244174.5:c.539G>T	X.37:g.155234190G>T	ENSP00000244174:p.Ser180Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVT0|Q14634|Q8WWU1|Q96TF0	Missense_Mutation	SNP	superfamily_Fibronectin_type3	p.S180I	ENST00000244174.5	37	c.539	CCDS14771.4	X	.	.	.	.	.	.	.	.	.	.	.	11.09	1.536754	0.27475	.	.	ENSG00000124334	ENST00000244174;ENST00000424344;ENST00000455739;ENST00000369423;ENST00000540897	T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35	1.44	-0.554	0.11811	Fibronectin, type III (1);Immunoglobulin-like fold (1);	0.770006	0.12503	N	0.463178	T	0.63343	0.2503	.	.	.	0.09310	N	1	P;P;D	0.54207	0.928;0.573;0.965	P;P;B	0.53760	0.734;0.468;0.367	T	0.52961	-0.8505	9	0.40728	T	0.16	-24.3092	2.9681	0.05913	0.2068:0.2792:0.514:0.0	.	159;180;215	F5H3Z0;Q01113;B9ZVT0	.;IL9R_HUMAN;.	I	180;159;159;215;205	ENSP00000244174:S180I;ENSP00000388918:S159I;ENSP00000358431:S215I;ENSP00000438112:S205I	ENSP00000244174:S180I	S	+	2	0	IL9R	154887384	1.000000	0.71417	0.446000	0.26920	0.300000	0.27592	0.913000	0.28611	-0.336000	0.08438	-1.346000	0.01242	AGC	IL9R	-	superfamily_Fibronectin_type3		0.582	IL9R-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IL9R	HGNC	protein_coding	OTTHUMT00000058981.1	G	NM_002186		155234190	+1	no_errors	ENST00000244174	ensembl	human	known	70_37	missense	SNP	0.429	T
IMPG1	3617	genome.wustl.edu	37	6	76660509	76660509	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:76660509C>T	ENST00000369950.3	-	13	1783	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1									p.E532K(1)		breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTGGTACCTCAGATGGGGCA	0.478																																					Pancreas(37;839 1141 2599 26037)												1	Substitution - Missense(1)	cervix(1)											89.0	73.0	78.0					6																	76660509		2203	4300	6503	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.1594G>A	6.37:g.76660509C>T	ENSP00000358966:p.Glu532Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.E532K	ENST00000369950.3	37	c.1594	CCDS4985.1	6	.	.	.	.	.	.	.	.	.	.	C	14.03	2.412850	0.42817	.	.	ENSG00000112706	ENST00000369950	T	0.21734	1.99	5.67	4.79	0.61399	.	0.281339	0.30302	N	0.009940	T	0.10594	0.0259	L	0.58101	1.795	0.23101	N	0.998291	P	0.40144	0.704	B	0.35971	0.215	T	0.04991	-1.0913	10	0.39692	T	0.17	.	15.0943	0.72220	0.0:0.859:0.141:0.0	.	532	Q17R60	IMPG1_HUMAN	K	532	ENSP00000358966:E532K	ENSP00000358966:E532K	E	-	1	0	IMPG1	76717229	0.028000	0.19301	0.004000	0.12327	0.003000	0.03518	1.437000	0.34991	1.371000	0.46172	0.650000	0.86243	GAG	IMPG1	-	NULL		0.478	IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPG1	HGNC	protein_coding	OTTHUMT00000041288.1	C	NM_001563		76660509	-1	no_errors	ENST00000369950	ensembl	human	known	70_37	missense	SNP	0.005	T
INTS4	92105	genome.wustl.edu	37	11	77590061	77590061	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:77590061G>A	ENST00000534064.1	-	23	2860	c.2826C>T	c.(2824-2826)atC>atT	p.I942I	AAMDC_ENST00000532481.1_Intron|AAMDC_ENST00000527134.1_Intron|INTS4_ENST00000535943.1_Silent_p.I317I|AAMDC_ENST00000304716.8_Intron	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	942					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.I942I(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGTGCCCTCGATGCTGGTTT	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											162.0	151.0	155.0					11																	77590061		2200	4292	6492	SO:0001819	synonymous_variant	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2826C>T	11.37:g.77590061G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Silent	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.I942	ENST00000534064.1	37	c.2826	CCDS31644.1	11																																																																																			INTS4	-	NULL		0.537	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77590061	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	silent	SNP	0.943	A
INTS4	92105	genome.wustl.edu	37	11	77614602	77614602	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:77614602G>A	ENST00000534064.1	-	17	2115	c.2081C>T	c.(2080-2082)tCa>tTa	p.S694L	AAMDC_ENST00000532481.1_Intron|INTS4_ENST00000535943.1_Missense_Mutation_p.S69L	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	694					snRNA processing (GO:0016180)	integrator complex (GO:0032039)		p.S694L(1)	INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CGCTGCTGCTGAGGCCAAATC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											66.0	57.0	60.0					11																	77614602		2200	4292	6492	SO:0001583	missense	92105			BC015664	CCDS31644.1	11q14.1	2006-04-26			ENSG00000149262	ENSG00000149262			25048	protein-coding gene	gene with protein product		611348				16239144	Standard	NM_033547		Approved	INT4, MGC16733, MST093	uc001oys.3	Q96HW7	OTTHUMG00000166629	ENST00000534064.1:c.2081C>T	11.37:g.77614602G>A	ENSP00000434466:p.Ser694Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD62|Q6PJG4|Q7Z4E7|Q96G32|Q96GA1|Q9BRC0	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.S694L	ENST00000534064.1	37	c.2081	CCDS31644.1	11	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790414	0.50102	.	.	ENSG00000149262	ENST00000534064;ENST00000535943	.	.	.	4.41	3.5	0.40072	.	0.134476	0.51477	D	0.000090	T	0.44180	0.1281	L	0.34521	1.04	0.46131	D	0.998885	B	0.02656	0.0	B	0.01281	0.0	T	0.29119	-1.0022	9	0.24483	T	0.36	-10.3752	12.4251	0.55542	0.0829:0.0:0.9171:0.0	.	694	Q96HW7	INT4_HUMAN	L	694;69	.	ENSP00000434466:S694L	S	-	2	0	INTS4	77292250	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.151000	0.71806	1.217000	0.43442	0.585000	0.79938	TCA	INTS4	-	NULL		0.483	INTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS4	HGNC	protein_coding	OTTHUMT00000390927.1	G	NM_033547		77614602	-1	no_errors	ENST00000534064	ensembl	human	known	70_37	missense	SNP	1.000	A
IRS4	8471	genome.wustl.edu	37	X	107976265	107976265	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:107976265G>A	ENST00000372129.2	-	1	3386	c.3310C>T	c.(3310-3312)Cca>Tca	p.P1104S	RP6-24A23.6_ENST00000563887.1_5'Flank|RP6-24A23.3_ENST00000608811.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1104	Ala-rich.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P1104S(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGTCTGTTGGAAAAGCAGAG	0.577																																																	1	Substitution - Missense(1)	cervix(1)											84.0	86.0	85.0					X																	107976265		2203	4300	6503	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.3310C>T	X.37:g.107976265G>A	ENSP00000361202:p.Pro1104Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.P1104S	ENST00000372129.2	37	c.3310	CCDS14544.1	X	.	.	.	.	.	.	.	.	.	.	G	14.13	2.443276	0.43429	.	.	ENSG00000133124	ENST00000372129	T	0.34472	1.36	5.55	4.67	0.58626	.	0.068223	0.56097	D	0.000025	T	0.21103	0.0508	N	0.24115	0.695	0.23751	N	0.996946	B	0.29988	0.264	B	0.28305	0.088	T	0.08046	-1.0741	10	0.36615	T	0.2	-9.2953	5.8456	0.18663	0.3096:0.0:0.6904:0.0	.	1104	O14654	IRS4_HUMAN	S	1104	ENSP00000361202:P1104S	ENSP00000361202:P1104S	P	-	1	0	IRS4	107862921	0.998000	0.40836	0.751000	0.31187	0.678000	0.39670	3.432000	0.52824	2.562000	0.86427	0.600000	0.82982	CCA	IRS4	-	NULL		0.577	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	G	NM_003604		107976265	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	missense	SNP	0.623	A
KCTD13	253980	genome.wustl.edu	37	16	29922489	29922489	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:29922489G>A	ENST00000568000.1	-	5	1564	c.563C>T	c.(562-564)tCa>tTa	p.S188L		NM_178863.3	NP_849194.1	Q8WZ19	BACD1_HUMAN	potassium channel tetramerization domain containing 13	188					cell migration (GO:0016477)|DNA replication (GO:0006260)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of DNA replication (GO:0045740)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein homooligomerization (GO:0051260)|protein ubiquitination (GO:0016567)|stress fiber assembly (GO:0043149)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)	GTP-Rho binding (GO:0017049)	p.S188L(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	7						GTTGTCATCTGAAGTGCTGGG	0.607																																																	1	Substitution - Missense(1)	cervix(1)											69.0	50.0	57.0					16																	29922489		2197	4300	6497	SO:0001583	missense	253980			AF289573	CCDS10661.1	16p11.2	2013-06-20	2013-06-20		ENSG00000174943	ENSG00000174943			22234	protein-coding gene	gene with protein product	"""polymerase delta-interacting protein 1"", ""TNFAIP1-like"""	608947	"""potassium channel tetramerisation domain containing 13"""			11593007	Standard	NM_178863		Approved	PDIP1, FKSG86, POLDIP1	uc002duv.4	Q8WZ19	OTTHUMG00000132120	ENST00000568000.1:c.563C>T	16.37:g.29922489G>A	ENSP00000455785:p.Ser188Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0R5|Q96P93|Q96SA1	Missense_Mutation	SNP	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.S188L	ENST00000568000.1	37	c.563	CCDS10661.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	3.998167	0.74818	.	.	ENSG00000174943	ENST00000308768	T	0.58060	0.36	5.43	4.47	0.54385	.	0.536737	0.15974	N	0.235602	T	0.69387	0.3105	M	0.79011	2.435	0.80722	D	1	D	0.69078	0.997	P	0.60173	0.87	T	0.73091	-0.4092	10	0.87932	D	0	.	13.1443	0.59452	0.0777:0.0:0.9223:0.0	.	188	Q8WZ19	BACD1_HUMAN	L	188	ENSP00000311202:S188L	ENSP00000311202:S188L	S	-	2	0	KCTD13	29829990	1.000000	0.71417	0.982000	0.44146	0.996000	0.88848	9.544000	0.98092	1.525000	0.49052	0.650000	0.86243	TCA	KCTD13	-	NULL		0.607	KCTD13-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	KCTD13	HGNC	protein_coding	OTTHUMT00000255162.2	G	NM_178863		29922489	-1	no_errors	ENST00000308768	ensembl	human	known	70_37	missense	SNP	0.999	A
ITGAL	3683	genome.wustl.edu	37	16	30485563	30485563	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30485563C>T	ENST00000356798.6	+	2	288	c.108C>T	c.(106-108)ttC>ttT	p.F36F	ITGAL_ENST00000433423.2_Silent_p.F36F|RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000454514.2_Silent_p.F36F|ITGAL_ENST00000358164.5_Silent_p.F36F|Y_RNA_ENST00000410769.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	36					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|extracellular matrix organization (GO:0030198)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of T cell proliferation (GO:0042102)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:0002291)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)	p.F36F(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Antithymocyte globulin(DB00098)|Efalizumab(DB00095)|Lovastatin(DB00227)	CGCGGAGCTTCTCCCCACCGC	0.706																																					NSCLC(110;1462 1641 3311 33990 49495)												1	Substitution - coding silent(1)	cervix(1)											20.0	22.0	21.0					16																	30485563		2181	4257	6438	SO:0001819	synonymous_variant	3683				CCDS32433.1, CCDS45461.1	16p13.1-p11	2010-03-23				ENSG00000005844		"""CD molecules"", ""Integrins"""	6148	protein-coding gene	gene with protein product		153370		CD11A		3284962	Standard	NM_002209		Approved	LFA-1	uc002dyi.4	P20701		ENST00000356798.6:c.108C>T	16.37:g.30485563C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43746|Q45H73|Q96HB1|Q9UBC8	Silent	SNP	pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha	p.F36	ENST00000356798.6	37	c.108	CCDS32433.1	16																																																																																			ITGAL	-	NULL		0.706	ITGAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGAL	HGNC	protein_coding	OTTHUMT00000434508.2	C			30485563	+1	no_errors	ENST00000356798	ensembl	human	known	70_37	silent	SNP	0.904	T
KDM5B	10765	genome.wustl.edu	37	1	202709925	202709925	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:202709925C>T	ENST00000367265.3	-	20	4125	c.2961G>A	c.(2959-2961)ttG>ttA	p.L987L	KDM5B_ENST00000367264.2_Silent_p.L1023L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	987					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.L987L(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CAAGGCTATTCAATGAATGTC	0.418																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	67.0	67.0					1																	202709925		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2961G>A	1.37:g.202709925C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.L987	ENST00000367265.3	37	c.2961	CCDS30974.1	1																																																																																			KDM5B	-	pfam_Lys_sp_deMease_like_dom		0.418	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	C	NM_006618		202709925	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	0.318	T
KDM5B	10765	genome.wustl.edu	37	1	202710713	202710713	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:202710713C>T	ENST00000367265.3	-	19	3891	c.2727G>A	c.(2725-2727)gaG>gaA	p.E909E	KDM5B_ENST00000367264.2_Silent_p.E945E	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	909					histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.E909E(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGATACGCATCTCAGCAAGCT	0.493																																																	1	Substitution - coding silent(1)	cervix(1)											89.0	78.0	81.0					1																	202710713		2203	4300	6503	SO:0001819	synonymous_variant	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.2727G>A	1.37:g.202710713C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O95811|Q15752|Q9Y3Q5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E909	ENST00000367265.3	37	c.2727	CCDS30974.1	1																																																																																			KDM5B	-	pfam_Lys_sp_deMease_like_dom		0.493	KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM5B	HGNC	protein_coding	OTTHUMT00000099184.2	C	NM_006618		202710713	-1	no_errors	ENST00000367265	ensembl	human	known	70_37	silent	SNP	1.000	T
KIAA0100	9703	genome.wustl.edu	37	17	26942204	26942204	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:26942204C>T	ENST00000528896.2	-	39	6660	c.6586G>A	c.(6586-6588)Gaa>Aaa	p.E2196K	SPAG5-AS1_ENST00000414744.1_RNA|SPAG5-AS1_ENST00000424210.1_RNA|RP11-192H23.4_ENST00000577790.1_5'Flank|KIAA0100_ENST00000544884.1_Missense_Mutation_p.E2053K|SPAG5-AS1_ENST00000554154.1_RNA|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Missense_Mutation_p.E2053K|SGK494_ENST00000301037.5_5'Flank|SGK494_ENST00000469832.3_5'Flank|RP11-192H23.4_ENST00000534850.1_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2196						extracellular region (GO:0005576)		p.E2196K(1)		breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GATTTAGTTTCTAGCTTTCCC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											121.0	106.0	111.0					17																	26942204		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6586G>A	17.37:g.26942204C>T	ENSP00000436773:p.Glu2196Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.E2196K	ENST00000528896.2	37	c.6586	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	C	20.2	3.943486	0.73672	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.29142	1.58;1.59	5.94	5.94	0.96194	.	0.083505	0.85682	D	0.000000	T	0.21022	0.0506	N	0.24115	0.695	0.80722	D	1	P	0.39665	0.682	B	0.31390	0.129	T	0.04053	-1.0981	10	0.15952	T	0.53	.	20.3633	0.98874	0.0:1.0:0.0:0.0	.	2196	Q14667	K0100_HUMAN	K	2196;2166;2196;2053	ENSP00000436773:E2196K;ENSP00000446443:E2053K	ENSP00000005905:E2196K	E	-	1	0	KIAA0100	23966331	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.399000	0.79935	2.826000	0.97356	0.561000	0.74099	GAA	KIAA0100	-	NULL		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	C	NM_014680		26942204	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123145798	123145798	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:123145798C>A	ENST00000264501.4	+	23	3132	c.2759C>A	c.(2758-2760)gCt>gAt	p.A920D	KIAA1109_ENST00000388738.3_Missense_Mutation_p.A920D|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.A920D			Q2LD37	K1109_HUMAN	KIAA1109	920					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)		p.A920D(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GATGTGCAGGCTGGAAGTCTT	0.453																																																	1	Substitution - Missense(1)	cervix(1)											119.0	121.0	120.0					4																	123145798		1960	4148	6108	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.2759C>A	4.37:g.123145798C>A	ENSP00000264501:p.Ala920Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.A920D	ENST00000264501.4	37	c.2759	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	26.9	4.785169	0.90282	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637;ENST00000449251	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.23	5.23	0.72850	.	0.000000	0.43416	U	0.000562	T	0.66147	0.2760	L	0.53249	1.67	0.58432	D	0.999997	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.916	T	0.67577	-0.5635	10	0.66056	D	0.02	.	19.1724	0.93583	0.0:1.0:0.0:0.0	.	920;920	Q2LD37-5;Q2LD37	.;K1109_HUMAN	D	920;920;920;128	ENSP00000264501:A920D;ENSP00000373390:A920D;ENSP00000389925:A920D;ENSP00000413018:A128D	ENSP00000264501:A920D	A	+	2	0	KIAA1109	123365248	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.990000	0.70595	2.613000	0.88420	0.591000	0.81541	GCT	KIAA1109	-	NULL		0.453	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123145798	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF25	3834	genome.wustl.edu	37	6	168443353	168443353	+	Silent	SNP	G	G	A	rs147561163		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:168443353G>A	ENST00000443060.2	+	9	1333	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_ENST00000351261.3_Intron|KIF25_ENST00000354419.2_Silent_p.P314P			Q9UIL4	KIF25_HUMAN	kinesin family member 25	314	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	112.0	107.0	109.0		,942	-8.2	0.0	6	dbSNP_134	109	3,8597	3.0+/-9.4	0,3,4297	no	intron,coding-synonymous	KIF25	NM_005355.3,NM_030615.2	,	0,3,6500	AA,AG,GG		0.0349,0.0,0.0231	,	,314/385	168443353	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.942G>A	6.37:g.168443353G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O94775|Q5SZU9	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P314	ENST00000443060.2	37	c.942	CCDS5305.1	6																																																																																			KIF25	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom		0.652	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KIF25	HGNC	protein_coding	OTTHUMT00000362509.1	G			168443353	+1	no_errors	ENST00000354419	ensembl	human	known	70_37	silent	SNP	0.157	A
KIF26B	55083	genome.wustl.edu	37	1	245848929	245848929	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:245848929G>A	ENST00000407071.2	+	12	3084	c.2644G>A	c.(2644-2646)Gac>Aac	p.D882N	KIF26B_ENST00000366518.4_Missense_Mutation_p.D501N	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	882					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.D882N(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GGAGCTCACCGACAACGAGGG	0.672																																																	2	Substitution - Missense(2)	cervix(2)											37.0	41.0	40.0					1																	245848929		2042	4163	6205	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2644G>A	1.37:g.245848929G>A	ENSP00000385545:p.Asp882Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D882N	ENST00000407071.2	37	c.2644	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.522966	0.85600	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.84298	-1.83;-1.64	5.47	5.47	0.80525	.	.	.	.	.	D	0.91009	0.7172	M	0.74389	2.26	0.80722	D	1	D;D	0.61080	0.98;0.989	P;P	0.57468	0.636;0.821	D	0.91740	0.5403	9	0.72032	D	0.01	.	19.3296	0.94280	0.0:0.0:1.0:0.0	.	501;882	B7WPD9;Q2KJY2	.;KI26B_HUMAN	N	882;501;498	ENSP00000385545:D882N;ENSP00000355475:D501N	ENSP00000355475:D501N	D	+	1	0	KIF26B	243915552	1.000000	0.71417	0.965000	0.40720	0.952000	0.60782	9.843000	0.99491	2.591000	0.87537	0.561000	0.74099	GAC	KIF26B	-	NULL		0.672	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245848929	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	A
KIF7	374654	genome.wustl.edu	37	15	90190075	90190075	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:90190075C>G	ENST00000394412.3	-	7	1850	c.1774G>C	c.(1774-1776)Gag>Cag	p.E592Q		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	592	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.E79Q(1)|p.E592Q(1)		central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CCCCTCTGCTCAGAGCCAACT	0.662											OREG0023460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					2	Substitution - Missense(2)	cervix(2)											65.0	52.0	57.0					15																	90190075		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1774G>C	15.37:g.90190075C>G	ENSP00000377934:p.Glu592Gln	Somatic	1273	WXS	Illumina HiSeq	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E592Q	ENST00000394412.3	37	c.1774	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	c	9.222	1.033607	0.19590	.	.	ENSG00000166813	ENST00000394412	T	0.70282	-0.47	5.17	4.24	0.50183	.	0.894234	0.09726	N	0.763782	T	0.60483	0.2272	L	0.36672	1.1	0.09310	N	1	P;B	0.40476	0.718;0.396	B;B	0.41036	0.346;0.099	T	0.48581	-0.9023	10	0.25751	T	0.34	.	7.0587	0.25113	0.1689:0.7398:0.0:0.0913	.	79;592	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	Q	592	ENSP00000377934:E592Q	ENSP00000377934:E592Q	E	-	1	0	KIF7	87991079	0.000000	0.05858	0.555000	0.28281	0.829000	0.46940	0.013000	0.13310	2.394000	0.81467	0.457000	0.33378	GAG	KIF7	-	NULL		0.662	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90190075	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.001	G
KLHL34	257240	genome.wustl.edu	37	X	21675600	21675600	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:21675600G>A	ENST00000379499.2	-	1	848	c.307C>T	c.(307-309)Ctg>Ttg	p.L103L		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	103						extracellular space (GO:0005615)		p.L103L(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GCGGCCTCCAGAGTGTCCTCT	0.642																																																	1	Substitution - coding silent(1)	cervix(1)											23.0	23.0	23.0					X																	21675600		2203	4293	6496	SO:0001819	synonymous_variant	257240			AK092279	CCDS14199.1	Xp22.12	2013-02-22	2013-02-22		ENSG00000185915	ENSG00000185915		"""Kelch-like"", ""BTB/POZ domain containing"""	26634	protein-coding gene	gene with protein product			"""kelch-like 34 (Drosophila)"""				Standard	NM_153270		Approved	FLJ34960, RP11-450P7.3	uc004czz.1	Q8N239	OTTHUMG00000021234	ENST00000379499.2:c.307C>T	X.37:g.21675600G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L103	ENST00000379499.2	37	c.307	CCDS14199.1	X																																																																																			KLHL34	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.642	KLHL34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL34	HGNC	protein_coding	OTTHUMT00000056022.1	G	NM_153270		21675600	-1	no_errors	ENST00000379499	ensembl	human	known	70_37	silent	SNP	0.998	A
KLRC1	3821	genome.wustl.edu	37	12	10601865	10601865	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:10601865G>A	ENST00000359151.3	-	5	641	c.460C>T	c.(460-462)Ctg>Ttg	p.L154L	KLRC1_ENST00000536188.1_Silent_p.L154L|KLRC1_ENST00000347831.5_Silent_p.L136L|KLRC1_ENST00000408006.3_Silent_p.L136L|KLRC1_ENST00000544822.1_Silent_p.L154L	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	154	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)	p.L154L(1)		NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						ATAGAAAGCAGACTGGAGTTC	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											157.0	165.0	162.0					12																	10601865		2203	4298	6501	SO:0001819	synonymous_variant	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.460C>T	12.37:g.10601865G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L154	ENST00000359151.3	37	c.460	CCDS8625.1	12																																																																																			KLRC1	-	pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.348	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	HGNC	protein_coding	OTTHUMT00000400115.1	G	NM_002259		10601865	-1	no_errors	ENST00000359151	ensembl	human	known	70_37	silent	SNP	0.004	A
KRTAP5-8	57830	genome.wustl.edu	37	11	71249659	71249659	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:71249659G>C	ENST00000398534.3	+	1	589	c.558G>C	c.(556-558)aaG>aaC	p.K186N		NM_021046.2	NP_066384.2	O75690	KRA58_HUMAN	keratin associated protein 5-8	186						keratin filament (GO:0045095)	structural constituent of epidermis (GO:0030280)	p.K186N(1)		cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						GCCAGTGCAAGATCTGAGGCT	0.557																																																	1	Substitution - Missense(1)	cervix(1)											122.0	129.0	127.0					11																	71249659		2200	4294	6494	SO:0001583	missense	57830			AB126077	CCDS41683.1	11q13.4	2008-02-05			ENSG00000241233	ENSG00000241233		"""Keratin associated proteins"""	23603	protein-coding gene	gene with protein product						15144888	Standard	NM_021046		Approved	KRTAP5.8, UHSKerB, KRTAP5-2	uc001oqr.1	O75690	OTTHUMG00000057571	ENST00000398534.3:c.558G>C	11.37:g.71249659G>C	ENSP00000420723:p.Lys186Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6L8G7|Q6UTX6	Missense_Mutation	SNP	NULL	p.K186N	ENST00000398534.3	37	c.558	CCDS41683.1	11	.	.	.	.	.	.	.	.	.	.	-	13.28	2.189746	0.38707	.	.	ENSG00000241233	ENST00000398534	T	0.01484	4.84	1.77	0.823	0.18812	.	.	.	.	.	T	0.07458	0.0188	M	0.84082	2.675	0.23802	N	0.996808	D	0.55172	0.97	P	0.60173	0.87	T	0.13150	-1.0520	9	0.87932	D	0	.	6.3146	0.21184	0.1758:0.0:0.8242:0.0	.	186	O75690	KRA58_HUMAN	N	186	ENSP00000420723:K186N	ENSP00000420723:K186N	K	+	3	2	KRTAP5-8	70927307	0.890000	0.30428	0.976000	0.42696	0.530000	0.34684	0.422000	0.21296	0.304000	0.22809	-0.140000	0.14226	AAG	KRTAP5-8	-	NULL		0.557	KRTAP5-8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP5-8	HGNC	protein_coding	OTTHUMT00000127954.1	G	NM_021046		71249659	+1	no_errors	ENST00000398534	ensembl	human	known	70_37	missense	SNP	0.995	C
KSR2	283455	genome.wustl.edu	37	12	117993045	117993045	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:117993045G>A	ENST00000339824.5	-	9	2174	c.1447C>T	c.(1447-1449)Cta>Tta	p.L483L	KSR2_ENST00000425217.1_Silent_p.L454L|KSR2_ENST00000302438.5_Silent_p.L180L|KSR2_ENST00000545002.1_5'UTR			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	483					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.L515L(1)|p.L180L(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCTTCCGTAGAGGGTTGTTG	0.507																																																	2	Substitution - coding silent(2)	cervix(2)											141.0	146.0	144.0					12																	117993045		1970	4157	6127	SO:0001819	synonymous_variant	283455			AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.1447C>T	12.37:g.117993045G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJT2|Q3B828|Q8N775	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.L483	ENST00000339824.5	37	c.1447		12																																																																																			KSR2	-	NULL		0.507	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	KSR2	HGNC	protein_coding	OTTHUMT00000401987.2	G	NM_173598		117993045	-1	no_errors	ENST00000339824	ensembl	human	known	70_37	silent	SNP	0.992	A
LAMA1	284217	genome.wustl.edu	37	18	7049150	7049150	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:7049150C>G	ENST00000389658.3	-	5	788	c.695G>C	c.(694-696)aGa>aCa	p.R232T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	232	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.R232T(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ATTGAGCGTTCTAATGCGTTG	0.493																																																	1	Substitution - Missense(1)	cervix(1)											147.0	122.0	131.0					18																	7049150		2203	4300	6503	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.695G>C	18.37:g.7049150C>G	ENSP00000374309:p.Arg232Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.R232T	ENST00000389658.3	37	c.695	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	23.8	4.455796	0.84209	.	.	ENSG00000101680	ENST00000389658	T	0.76316	-1.01	5.85	5.85	0.93711	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.89199	0.6647	M	0.80422	2.495	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.88270	0.2929	10	0.48119	T	0.1	.	20.1736	0.98170	0.0:1.0:0.0:0.0	.	232	P25391	LAMA1_HUMAN	T	232	ENSP00000374309:R232T	ENSP00000374309:R232T	R	-	2	0	LAMA1	7039150	0.980000	0.34600	0.269000	0.24586	0.478000	0.33099	7.818000	0.86416	2.767000	0.95098	0.557000	0.71058	AGA	LAMA1	-	pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N		0.493	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	C	NM_005559		7049150	-1	no_errors	ENST00000389658	ensembl	human	known	70_37	missense	SNP	0.941	G
LEPREL1	55214	genome.wustl.edu	37	3	189711934	189711934	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:189711934C>G	ENST00000319332.5	-	3	969	c.772G>C	c.(772-774)Gaa>Caa	p.E258Q	LEPREL1_ENST00000427335.2_Missense_Mutation_p.E77Q	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	258					collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|peptidyl-proline hydroxylation (GO:0019511)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|Golgi apparatus (GO:0005794)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)	p.E258Q(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TCATATTCTTCAAATCTCTGA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											74.0	74.0	74.0					3																	189711934		2203	4300	6503	SO:0001583	missense	55214				CCDS3294.1, CCDS46981.1	3q29	2014-01-28			ENSG00000090530	ENSG00000090530	1.14.11.7		19317	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 2"""	610341				15063763, 21885030	Standard	NM_018192		Approved	FLJ10718, MLAT4, P3H2	uc011bsk.2	Q8IVL5	OTTHUMG00000156312	ENST00000319332.5:c.772G>C	3.37:g.189711934C>G	ENSP00000316881:p.Glu258Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPK0|B3KWI9|D3DNV8|Q9NVI2	Missense_Mutation	SNP	pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph	p.E258Q	ENST00000319332.5	37	c.772	CCDS3294.1	3	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904110	0.72754	.	.	ENSG00000090530	ENST00000319332;ENST00000427335;ENST00000444866;ENST00000426003	T;T;T;T	0.54675	0.56;0.56;0.56;0.56	5.72	5.72	0.89469	.	0.096276	0.64402	D	0.000001	T	0.60547	0.2277	L	0.36672	1.1	0.80722	D	1	D	0.64830	0.994	P	0.58520	0.84	T	0.55036	-0.8203	9	.	.	.	-22.0614	18.8634	0.92281	0.0:1.0:0.0:0.0	.	258	Q8IVL5	P3H2_HUMAN	Q	258;77;77;77	ENSP00000316881:E258Q;ENSP00000408947:E77Q;ENSP00000391374:E77Q;ENSP00000394326:E77Q	.	E	-	1	0	LEPREL1	191194628	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.162000	0.77515	2.711000	0.92665	0.655000	0.94253	GAA	LEPREL1	-	NULL		0.363	LEPREL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL1	HGNC	protein_coding	OTTHUMT00000343855.1	C	NM_018192		189711934	-1	no_errors	ENST00000319332	ensembl	human	known	70_37	missense	SNP	1.000	G
GNB3	2784	genome.wustl.edu	37	12	6948234	6948234	+	5'Flank	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:6948234G>A	ENST00000229264.3	+	0	0				LEPREL2_ENST00000538102.1_RNA|LEPREL2_ENST00000606935.1_RNA|GNB3_ENST00000435982.2_5'Flank|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000251761.8_RNA	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3						cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|G-protein coupled receptor signaling pathway (GO:0007186)|GTP catabolic process (GO:0006184)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell body (GO:0044297)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|signal transducer activity (GO:0004871)	p.W658*(1)|p.W474*(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						CATGGGGTGTGGGCCGTGACT	0.667																																																	2	Substitution - Nonsense(2)	cervix(2)											36.0	42.0	40.0					12																	6948234		2097	4209	6306	SO:0001631	upstream_gene_variant	10536				CCDS8564.1, CCDS73427.1	12p13	2013-01-10			ENSG00000111664	ENSG00000111664		"""WD repeat domain containing"""	4400	protein-coding gene	gene with protein product		139130				11770079, 16600389	Standard	XM_005253680		Approved		uc001qrd.3	P16520	OTTHUMG00000168517		12.37:g.6948234G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96B71|Q9BQC0	Nonsense_Mutation	SNP	smart_Pro_4_hyd_alph	p.W658*	ENST00000229264.3	37	c.1973	CCDS8564.1	12	.	.	.	.	.	.	.	.	.	.	G	38	6.812630	0.97857	.	.	ENSG00000110811	ENST00000451242;ENST00000396725;ENST00000290510	.	.	.	4.99	4.99	0.66335	.	0.217137	0.42964	D	0.000625	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-10.8961	18.2817	0.90101	0.0:0.0:1.0:0.0	.	.	.	.	X	86;658;474	.	ENSP00000290510:W474X	W	+	2	0	LEPREL2	6818495	1.000000	0.71417	0.999000	0.59377	0.964000	0.63967	4.808000	0.62583	2.319000	0.78375	0.561000	0.74099	TGG	LEPREL2	-	smart_Pro_4_hyd_alph		0.667	GNB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LEPREL2	HGNC	protein_coding	OTTHUMT00000400006.1	G	NM_002075		6948234	+1	no_errors	ENST00000396725	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LLGL2	3993	genome.wustl.edu	37	17	73559178	73559178	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:73559178C>T	ENST00000392550.3	+	7	729	c.612C>T	c.(610-612)atC>atT	p.I204I	LLGL2_ENST00000167462.5_Silent_p.I204I|LLGL2_ENST00000375227.4_Silent_p.I204I|LLGL2_ENST00000578363.1_Silent_p.I204I|LLGL2_ENST00000577200.1_Silent_p.I204I	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	204					cell cycle (GO:0007049)|cell division (GO:0051301)|exocytosis (GO:0006887)|regulation of establishment or maintenance of cell polarity (GO:0032878)	cytoplasm (GO:0005737)	PDZ domain binding (GO:0030165)	p.I204I(2)		NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCAACCAGATCCTGATCGGCT	0.657																																																	2	Substitution - coding silent(2)	cervix(2)											48.0	49.0	49.0					17																	73559178		2203	4300	6503	SO:0001819	synonymous_variant	3993			X87342	CCDS11725.1, CCDS32733.1, CCDS45776.1	17q25.1	2013-01-10	2001-11-28			ENSG00000073350		"""WD repeat domain containing"""	6629	protein-coding gene	gene with protein product			"""lethal giant larvae (Drosophila) homolog 2"""				Standard	XR_243659		Approved	HGL	uc002joh.3	Q6P1M3		ENST00000392550.3:c.612C>T	17.37:g.73559178C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14521|Q9BR62	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,prints_Lethal2_giant	p.I204	ENST00000392550.3	37	c.612	CCDS32733.1	17																																																																																			LLGL2	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.657	LLGL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LLGL2	HGNC	protein_coding	OTTHUMT00000447633.1	C	NM_004524		73559178	+1	no_errors	ENST00000392550	ensembl	human	known	70_37	silent	SNP	1.000	T
LMO1	4004	genome.wustl.edu	37	11	8246193	8246193	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:8246193G>A	ENST00000335790.3	-	4	936	c.441C>T	c.(439-441)ctC>ctT	p.L147L	LMO1_ENST00000428101.2_Silent_p.L146L|LMO1_ENST00000534484.1_Silent_p.L136L	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	147	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.L208L(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		AGGTGCCATTGAGCTGCCCTT	0.552			"""T, A"""	TRD@	"""T-ALL, neuroblastoma"""	neuroblastoma																																	yes	Dom	yes		11	11p15	4004	LIM domain only 1 (rhombotin 1) (RBTN1)		L	1	Substitution - coding silent(1)	cervix(1)											70.0	71.0	70.0					11																	8246193		1955	4155	6110	SO:0001819	synonymous_variant	4004			M26682	CCDS44534.1, CCDS58118.1	11p15	2014-09-17			ENSG00000166407	ENSG00000166407			6641	protein-coding gene	gene with protein product		186921		RBTN1		2034676, 1703797	Standard	NM_002315		Approved	TTG1, RHOM1	uc001mgh.2	P25800	OTTHUMG00000165833	ENST00000335790.3:c.441C>T	11.37:g.8246193G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PSF5|Q4VBC5|Q8IXR0	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.L147	ENST00000335790.3	37	c.441	CCDS44534.1	11																																																																																			LMO1	-	pfscan_Znf_LIM		0.552	LMO1-001	KNOWN	basic|CCDS	protein_coding	LMO1	HGNC	protein_coding	OTTHUMT00000386503.2	G	NM_002315		8246193	-1	no_errors	ENST00000335790	ensembl	human	known	70_37	silent	SNP	1.000	A
LOC100130331	100130331	genome.wustl.edu	37	1	238090796	238090796	+	RNA	SNP	C	C	T	rs545555771		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:238090796C>T	ENST00000450451.1	+	0	2302					NR_027247.2																						CTACATCACCCTGGACTTCGA	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		19177	0.0		0.001	False		,,,				2504	0.0																0																																												100130331																															1.37:g.238090796C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000450451.1	37	NULL		1																																																																																			RP11-193H5.1	-	-		0.587	RP11-193H5.1-001	KNOWN	basic	antisense	LOC100130331	Clone_based_vega_gene	antisense	OTTHUMT00000095477.1	C			238090796	+1	no_errors	ENST00000450451	ensembl	human	known	70_37	rna	SNP	1.000	T
TMEM8A	58986	genome.wustl.edu	37	16	436993	436993	+	5'UTR	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:436993C>G	ENST00000476735.1	-	0	120				Z97634.3_ENST00000412293.1_RNA			Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A						cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						ATGCTGTCATCAAGTTTCCGC	0.537																																																	0																																										SO:0001623	5_prime_UTR_variant	100134368			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000476735.1:c.-681G>C	16.37:g.436993C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	RNA	SNP	-	NULL	ENST00000476735.1	37	NULL		16																																																																																			Z97634.5	-	-		0.537	TMEM8A-007	KNOWN	basic	processed_transcript	LOC100134368	Clone_based_vega_gene	protein_coding	OTTHUMT00000313680.1	C	NM_021259		436993	+1	no_errors	ENST00000457760	ensembl	human	known	70_37	rna	SNP	1.000	G
NPIPA3	642778	genome.wustl.edu	37	16	14819756	14819756	+	Missense_Mutation	SNP	C	C	T	rs62037507		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:14819756C>T	ENST00000552140.1	+	8	659	c.659C>T	c.(658-660)gCg>gTg	p.A220V	NPIPA3_ENST00000531598.2_Missense_Mutation_p.A239V	NM_001277323.1	NP_001264252.1	F8WFD2	NPIA3_HUMAN	nuclear pore complex interacting protein family, member A3	220																	ATGGCGGCAGCGGAGCATCGT	0.498																																																	0																																										SO:0001583	missense	642778				CCDS59262.1	16p13.11	2013-06-11				ENSG00000224712			41978	protein-coding gene	gene with protein product							Standard	NM_001277323		Approved			F8WFD2	OTTHUMG00000166262	ENST00000552140.1:c.659C>T	16.37:g.14819756C>T	ENSP00000448841:p.Ala220Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NPIP	p.A239V	ENST00000552140.1	37	c.716	CCDS59262.1	16	.	.	.	.	.	.	.	.	.	.	.	2.490	-0.317681	0.05386	.	.	ENSG00000224712	ENST00000531598;ENST00000552140	T;T	0.58940	0.3;0.3	0.448	-0.896	0.10557	.	.	.	.	.	T	0.40791	0.1131	L	0.46157	1.445	0.09310	N	1	B	0.27679	0.185	B	0.11329	0.006	T	0.25984	-1.0116	8	0.87932	D	0	.	.	.	.	.	220	F8WFD2	.	V	239;220	ENSP00000437133:A239V;ENSP00000448841:A220V	ENSP00000437133:A239V	A	+	2	0	RP11-719K4.1	14727257	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.156000	0.01283	-2.162000	0.00784	-1.441000	0.01070	GCG	RP11-719K4.1	-	pfam_NPIP		0.498	NPIPA3-003	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	LOC642778	Clone_based_vega_gene	protein_coding	OTTHUMT00000408692.2	C			14819756	+1	no_errors	ENST00000531598	ensembl	human	novel	70_37	missense	SNP	0.000	T
LRBA	987	genome.wustl.edu	37	4	151752977	151752977	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:151752977G>A	ENST00000357115.3	-	29	4964	c.4721C>T	c.(4720-4722)tCa>tTa	p.S1574L	LRBA_ENST00000535741.1_Missense_Mutation_p.S1574L|LRBA_ENST00000510413.1_Missense_Mutation_p.S1574L|LRBA_ENST00000507224.1_Missense_Mutation_p.S1574L	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1574						cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S1574L(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ACCAGAGAGTGATACATTCTC	0.338																																																	1	Substitution - Missense(1)	cervix(1)											83.0	78.0	79.0					4																	151752977		2203	4300	6503	SO:0001583	missense	987			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.4721C>T	4.37:g.151752977G>A	ENSP00000349629:p.Ser1574Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom	p.S1574L	ENST00000357115.3	37	c.4721	CCDS3773.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.744|9.744	1.165715|1.165715	0.21538|0.21538	.|.	.|.	ENSG00000198589|ENSG00000198589	ENST00000509835|ENST00000535741;ENST00000510413;ENST00000357115;ENST00000507224	.|T;T;T;T	.|0.55930	.|0.91;1.06;0.91;0.49	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|3.801840	.|0.00682	.|U	.|0.000692	T|T	0.56455|0.56455	0.1986|0.1986	M|M	0.69823|0.69823	2.125|2.125	0.09310|0.09310	N|N	1|1	.|B;B	.|0.31548	.|0.22;0.328	.|B;B	.|0.28011	.|0.039;0.085	T|T	0.56914|0.56914	-0.7900|-0.7900	5|10	.|0.08599	.|T	.|0.76	.|.	14.7918|14.7918	0.69848|0.69848	0.0:0.1434:0.8566:0.0|0.0:0.1434:0.8566:0.0	.|.	.|1574;1574	.|P50851;P50851-2	.|LRBA_HUMAN;.	Y|L	227|1574	.|ENSP00000446299:S1574L;ENSP00000421552:S1574L;ENSP00000349629:S1574L;ENSP00000422180:S1574L	.|ENSP00000349629:S1574L	H|S	-|-	1|2	0|0	LRBA|LRBA	151972427|151972427	0.384000|0.384000	0.25164|0.25164	0.953000|0.953000	0.39169|0.39169	0.211000|0.211000	0.24417|0.24417	3.394000|3.394000	0.52551|0.52551	2.783000|2.783000	0.95769|0.95769	0.542000|0.542000	0.68232|0.68232	CAC|TCA	LRBA	-	NULL		0.338	LRBA-002	KNOWN	basic|CCDS	protein_coding	LRBA	HGNC	protein_coding	OTTHUMT00000364939.1	G			151752977	-1	no_errors	ENST00000357115	ensembl	human	known	70_37	missense	SNP	0.023	A
LRFN3	79414	genome.wustl.edu	37	19	36431465	36431465	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:36431465G>A	ENST00000588831.1	+	3	2192	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	LRFN3_ENST00000246529.3_Missense_Mutation_p.E380K			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	380	Ig-like.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.E380K(1)		cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGCTGCTGTGGAGCTGACTGT	0.667																																																	1	Substitution - Missense(1)	cervix(1)											33.0	30.0	31.0					19																	36431465		2203	4300	6503	SO:0001583	missense	79414			BC003578	CCDS12483.1	19q13.13	2013-02-11				ENSG00000126243		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	28370	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 1"""	612809				12975309, 16495444, 16828986	Standard	NM_024509		Approved	MGC2656, SALM4, FIGLER1	uc002oco.3	Q9BTN0		ENST00000588831.1:c.1138G>A	19.37:g.36431465G>A	ENSP00000466989:p.Glu380Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UY10	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E380K	ENST00000588831.1	37	c.1138	CCDS12483.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243287	0.79912	.	.	ENSG00000126243	ENST00000246529	T	0.68181	-0.31	5.01	5.01	0.66863	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.36703	N	0.002445	T	0.65770	0.2723	L	0.41492	1.28	0.58432	D	0.999992	P	0.36171	0.541	P	0.46885	0.53	T	0.59354	-0.7470	10	0.13108	T	0.6	.	15.7909	0.78364	0.0:0.0:1.0:0.0	.	380	Q9BTN0	LRFN3_HUMAN	K	380	ENSP00000246529:E380K	ENSP00000246529:E380K	E	+	1	0	LRFN3	41123305	1.000000	0.71417	0.998000	0.56505	0.681000	0.39784	9.794000	0.99096	2.320000	0.78422	0.591000	0.81541	GAG	LRFN3	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.667	LRFN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN3	HGNC	protein_coding	OTTHUMT00000457403.2	G	NM_024509		36431465	+1	no_errors	ENST00000246529	ensembl	human	known	70_37	missense	SNP	1.000	A
LRP1	4035	genome.wustl.edu	37	12	57578643	57578643	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:57578643G>A	ENST00000243077.3	+	39	6674	c.6208G>A	c.(6208-6210)Gat>Aat	p.D2070N		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2070					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)	p.D2070N(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTACTGGTGCGATGCACGGAC	0.587																																																	1	Substitution - Missense(1)	cervix(1)											132.0	110.0	117.0					12																	57578643		2203	4300	6503	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.6208G>A	12.37:g.57578643G>A	ENSP00000243077:p.Asp2070Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2070N	ENST00000243077.3	37	c.6208	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.500867	0.96371	.	.	ENSG00000123384	ENST00000243077	D	0.93307	-3.2	5.27	5.27	0.74061	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.64402	D	0.000001	D	0.97402	0.9150	M	0.91249	3.19	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98285	1.0510	10	0.87932	D	0	.	17.6667	0.88205	0.0:0.0:1.0:0.0	.	2070	Q07954	LRP1_HUMAN	N	2070	ENSP00000243077:D2070N	ENSP00000243077:D2070N	D	+	1	0	LRP1	55864910	1.000000	0.71417	0.845000	0.33349	0.928000	0.56348	9.869000	0.99810	2.468000	0.83385	0.462000	0.41574	GAT	LRP1	-	smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.587	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	G	NM_002332		57578643	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRC31	79782	genome.wustl.edu	37	3	169566073	169566073	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:169566073C>T	ENST00000316428.5	-	8	1219	c.1162G>A	c.(1162-1164)Gaa>Aaa	p.E388K	LRRC31_ENST00000523069.1_Missense_Mutation_p.E388K|LRRC31_ENST00000264676.5_Missense_Mutation_p.E332K	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	388								p.E388K(1)		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)			ACAGAGGCTTCAGCTAAAAGT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											56.0	53.0	54.0					3																	169566073		1922	4135	6057	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.1162G>A	3.37:g.169566073C>T	ENSP00000325978:p.Glu388Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL44|E5RJA9|Q17RA3|Q8N848|Q9H5N5|V9HW14	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E388K	ENST00000316428.5	37	c.1162	CCDS43167.1	3	.	.	.	.	.	.	.	.	.	.	C	14.69	2.610726	0.46527	.	.	ENSG00000114248	ENST00000316428;ENST00000264676;ENST00000523069	T;T;T	0.53423	0.62;0.62;0.62	4.61	3.73	0.42828	.	0.418828	0.25765	N	0.028453	T	0.41834	0.1176	M	0.67953	2.075	0.29271	N	0.870698	P;P	0.47545	0.897;0.7	B;B	0.38327	0.271;0.173	T	0.40997	-0.9533	10	0.18276	T	0.48	-4.519	12.8041	0.57603	0.0:0.9199:0.0:0.0801	.	332;388	Q6UY01-2;Q6UY01	.;LRC31_HUMAN	K	388;332;388	ENSP00000325978:E388K;ENSP00000264676:E332K;ENSP00000429145:E388K	ENSP00000264676:E332K	E	-	1	0	LRRC31	171048767	1.000000	0.71417	0.013000	0.15412	0.007000	0.05969	3.369000	0.52365	0.922000	0.37019	0.655000	0.94253	GAA	LRRC31	-	NULL		0.403	LRRC31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC31	HGNC	protein_coding	OTTHUMT00000378699.1	C	NM_024727		169566073	-1	no_errors	ENST00000316428	ensembl	human	known	70_37	missense	SNP	0.998	T
LRRC37A6P	387646	genome.wustl.edu	37	10	27537598	27537598	+	lincRNA	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:27537598C>T	ENST00000574842.1	+	0	255				LRRC37A6P_ENST00000284414.4_RNA																							GGTAGTGGTTCAAATGTATGT	0.353																																																	0																																												387646																															10.37:g.27537598C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000574842.1	37	NULL		10																																																																																			LRRC37A6P	-	-		0.353	RP11-85G18.6-001	KNOWN	basic	lincRNA	LRRC37A6P	HGNC	lincRNA	OTTHUMT00000436904.1	C			27537598	-1	no_errors	ENST00000284414	ensembl	human	known	70_37	rna	SNP	0.081	T
LRRC7	57554	genome.wustl.edu	37	1	70505043	70505043	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:70505043A>T	ENST00000035383.5	+	19	3452	c.3422A>T	c.(3421-3423)gAt>gTt	p.D1141V	LRRC7_ENST00000415775.2_Missense_Mutation_p.D425V|LRRC7_ENST00000310961.5_Missense_Mutation_p.D1146V	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1141						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.D1141V(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCCAACTGATAGGTACGGC	0.567																																																	1	Substitution - Missense(1)	cervix(1)											67.0	71.0	69.0					1																	70505043		2203	4300	6503	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.3422A>T	1.37:g.70505043A>T	ENSP00000035383:p.Asp1141Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.D1141V	ENST00000035383.5	37	c.3422	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813726	0.32053	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.48522	0.81;0.84;1.97	5.81	5.81	0.92471	.	0.254776	0.38778	N	0.001570	T	0.53706	0.1813	L	0.54323	1.7	0.80722	D	1	D;P;P	0.55800	0.973;0.739;0.808	P;P;B	0.61533	0.89;0.474;0.368	T	0.59080	-0.7521	10	0.87932	D	0	.	15.355	0.74421	1.0:0.0:0.0:0.0	.	425;1141;1141	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	V	1146;1141;425;964	ENSP00000309245:D1146V;ENSP00000035383:D1141V;ENSP00000394867:D425V	ENSP00000035383:D1141V	D	+	2	0	LRRC7	70277631	1.000000	0.71417	0.112000	0.21494	0.003000	0.03518	5.828000	0.69307	2.221000	0.72209	0.455000	0.32223	GAT	LRRC7	-	NULL		0.567	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	A	NM_020794		70505043	+1	no_errors	ENST00000035383	ensembl	human	known	70_37	missense	SNP	0.871	T
LRRC40	55631	genome.wustl.edu	37	1	70641557	70641557	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:70641557G>A	ENST00000370952.3	-	7	992	c.913C>T	c.(913-915)Cca>Tca	p.P305S		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	305						membrane (GO:0016020)		p.P305S(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						ATTTCATCTGGAACAGATTTT	0.338																																																	1	Substitution - Missense(1)	cervix(1)											99.0	98.0	98.0					1																	70641557		2203	4299	6502	SO:0001583	missense	55631				CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.913C>T	1.37:g.70641557G>A	ENSP00000359990:p.Pro305Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.P305S	ENST00000370952.3	37	c.913	CCDS646.1	1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.731366	0.89390	.	.	ENSG00000066557	ENST00000370952	T	0.28069	1.63	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.46229	0.1382	L	0.53729	1.69	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43686	-0.9376	10	0.72032	D	0.01	.	18.9046	0.92455	0.0:0.0:1.0:0.0	.	305	Q9H9A6	LRC40_HUMAN	S	305	ENSP00000359990:P305S	ENSP00000359990:P305S	P	-	1	0	LRRC40	70414145	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	9.048000	0.93830	2.567000	0.86603	0.585000	0.79938	CCA	LRRC40	-	smart_Leu-rich_rpt_typical-subtyp		0.338	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC40	HGNC	protein_coding	OTTHUMT00000025914.1	G	NM_017768		70641557	-1	no_errors	ENST00000370952	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRK2	120892	genome.wustl.edu	37	12	40728939	40728939	+	Silent	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:40728939C>G	ENST00000298910.7	+	40	5986	c.5928C>G	c.(5926-5928)ctC>ctG	p.L1976L		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1976	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.L1983L(1)|p.L1976L(1)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGATTGCACTCCACGTAGCTG	0.498																																																	2	Substitution - coding silent(2)	cervix(2)											104.0	96.0	99.0					12																	40728939		2203	4300	6503	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.5928C>G	12.37:g.40728939C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom	p.L1976	ENST00000298910.7	37	c.5928	CCDS31774.1	12																																																																																			LRRK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.498	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRK2	HGNC	protein_coding	OTTHUMT00000277179.1	C	XM_058513		40728939	+1	no_errors	ENST00000298910	ensembl	human	known	70_37	silent	SNP	0.038	G
LRSAM1	90678	genome.wustl.edu	37	9	130259564	130259564	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:130259564G>C	ENST00000323301.4	+	23	2467	c.1863G>C	c.(1861-1863)gaG>gaC	p.E621D	LRSAM1_ENST00000483302.1_3'UTR|LRSAM1_ENST00000373322.1_Missense_Mutation_p.E621D|LRSAM1_ENST00000373324.4_Missense_Mutation_p.E594D|LRSAM1_ENST00000300417.6_Missense_Mutation_p.E621D	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	621	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell death (GO:0008219)|negative regulation of endocytosis (GO:0045806)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein polyubiquitination (GO:0000209)|ubiquitin-dependent endocytosis (GO:0070086)|viral budding (GO:0046755)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E621D(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						TGCAGCACGAGATCCTCCGGA	0.617																																																	1	Substitution - Missense(1)	cervix(1)											72.0	65.0	67.0					9																	130259564		2203	4300	6503	SO:0001583	missense	90678			AK056203	CCDS6873.1, CCDS55347.1	9q34.13	2014-09-17			ENSG00000148356	ENSG00000148356		"""Sterile alpha motif (SAM) domain containing"""	25135	protein-coding gene	gene with protein product		610933				12975309	Standard	NM_001005373		Approved	FLJ31641	uc004brd.2	Q6UWE0	OTTHUMG00000020701	ENST00000323301.4:c.1863G>C	9.37:g.130259564G>C	ENSP00000322937:p.Glu621Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVV0|Q8NB40|Q96GT5|Q96MX5|Q96MZ7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.E621D	ENST00000323301.4	37	c.1863	CCDS6873.1	9	.	.	.	.	.	.	.	.	.	.	G	1.650	-0.514258	0.04200	.	.	ENSG00000148356	ENST00000300417;ENST00000373324;ENST00000323301;ENST00000373322	D;D;D;D	0.85013	-1.93;-1.93;-1.93;-1.93	4.89	1.44	0.22558	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.203153	0.45126	D	0.000393	T	0.72486	0.3466	L	0.43152	1.355	0.23144	N	0.998225	B;B	0.31655	0.152;0.334	B;B	0.31442	0.053;0.13	T	0.55114	-0.8191	10	0.11182	T	0.66	-3.2198	4.0606	0.09837	0.2492:0.3792:0.3716:0.0	.	594;621	Q6UWE0-2;Q6UWE0	.;LRSM1_HUMAN	D	621;594;621;621	ENSP00000300417:E621D;ENSP00000362421:E594D;ENSP00000322937:E621D;ENSP00000362419:E621D	ENSP00000300417:E621D	E	+	3	2	LRSAM1	129299385	0.908000	0.30866	0.903000	0.35520	0.124000	0.20399	0.101000	0.15251	0.430000	0.26230	-0.305000	0.09177	GAG	LRSAM1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.617	LRSAM1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LRSAM1	HGNC	protein_coding	OTTHUMT00000054164.1	G	NM_138361		130259564	+1	no_errors	ENST00000300417	ensembl	human	known	70_37	missense	SNP	0.827	C
LSAMP	4045	genome.wustl.edu	37	3	115560717	115560717	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:115560717G>A	ENST00000490035.2	-	6	1393	c.894C>T	c.(892-894)gtC>gtT	p.V298V	LSAMP_ENST00000498645.1_5'Flank|LSAMP_ENST00000539563.1_Silent_p.V295V	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	298	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.V298V(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		TGGCATTGGTGACCCCCAGCT	0.498																																																	1	Substitution - coding silent(1)	cervix(1)											101.0	86.0	91.0					3																	115560717		2203	4300	6503	SO:0001819	synonymous_variant	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.894C>T	3.37:g.115560717G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IV49	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.V298	ENST00000490035.2	37	c.894	CCDS2982.1	3																																																																																			LSAMP	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.498	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	HGNC	protein_coding	OTTHUMT00000354495.4	G	NM_002338		115560717	-1	no_errors	ENST00000490035	ensembl	human	known	70_37	silent	SNP	0.996	A
LTBP4	8425	genome.wustl.edu	37	19	41111379	41111379	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:41111379G>C	ENST00000308370.7	+	6	712	c.712G>C	c.(712-714)Gag>Cag	p.E238Q	RN7SL758P_ENST00000580450.1_RNA|LTBP4_ENST00000545697.1_5'UTR|LTBP4_ENST00000204005.9_Missense_Mutation_p.E201Q|LTBP4_ENST00000396819.3_Missense_Mutation_p.E171Q|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	238					extracellular matrix organization (GO:0030198)|growth hormone secretion (GO:0030252)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|regulation of cell differentiation (GO:0045595)|regulation of cell growth (GO:0001558)|regulation of proteolysis (GO:0030162)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|integrin binding (GO:0005178)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)	p.E238Q(1)		central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCACCAGGTGGAGCGTGTGTC	0.726																																																	1	Substitution - Missense(1)	cervix(1)											23.0	27.0	26.0					19																	41111379		2012	4124	6136	SO:0001583	missense	8425			Y13622	CCDS74368.1, CCDS74369.1, CCDS74370.1	19q13.1-q13.2	2011-10-20				ENSG00000090006		"""Latent transforming growth factor, beta binding proteins"""	6717	protein-coding gene	gene with protein product		604710				9660815, 9271198	Standard	NM_003573		Approved	LTBP-4, LTBP-4L, FLJ46318, FLJ90018	uc002ooh.1	Q8N2S1		ENST00000308370.7:c.712G>C	19.37:g.41111379G>C	ENSP00000311905:p.Glu238Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O00508|O75412|O75413	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E238Q	ENST00000308370.7	37	c.712		19	.	.	.	.	.	.	.	.	.	.	G	19.57	3.853205	0.71719	.	.	ENSG00000090006	ENST00000204005;ENST00000308370;ENST00000396819	T;T;T	0.80566	-1.38;-1.39;-1.36	3.87	3.87	0.44632	.	0.000000	0.36740	U	0.002435	T	0.74906	0.3778	L	0.50333	1.59	0.80722	D	1	B;B;B	0.32781	0.384;0.384;0.384	B;B;B	0.34093	0.175;0.175;0.175	T	0.74127	-0.3765	10	0.34782	T	0.22	.	12.845	0.57825	0.0:0.0:1.0:0.0	.	171;238;201	E7EUU1;Q8N2S1;E7ENG9	.;LTBP4_HUMAN;.	Q	201;238;171	ENSP00000204005:E201Q;ENSP00000311905:E238Q;ENSP00000380031:E171Q	ENSP00000204005:E201Q	E	+	1	0	LTBP4	45803219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.540000	0.53611	1.981000	0.57761	0.491000	0.48974	GAG	LTBP4	-	NULL		0.726	LTBP4-203	KNOWN	basic|appris_candidate_longest	protein_coding	LTBP4	HGNC	protein_coding		G	NM_003573		41111379	+1	no_errors	ENST00000308370	ensembl	human	known	70_37	missense	SNP	1.000	C
MAGEB18	286514	genome.wustl.edu	37	X	26157793	26157793	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:26157793G>A	ENST00000325250.1	+	2	878	c.691G>A	c.(691-693)Gat>Aat	p.D231N		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	231	Interaction with LNX1.|MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					cytoplasm (GO:0005737)		p.D231N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						TGTATATGCCGATAGGAAGCA	0.498																																																	1	Substitution - Missense(1)	cervix(1)											49.0	43.0	45.0					X																	26157793		2202	4300	6502	SO:0001583	missense	286514			AK057361	CCDS14216.1	Xp21.3	2008-02-05			ENSG00000176774	ENSG00000176774			28515	protein-coding gene	gene with protein product							Standard	NM_173699		Approved	MGC33889	uc004dbq.2	Q96M61	OTTHUMG00000021282	ENST00000325250.1:c.691G>A	X.37:g.26157793G>A	ENSP00000314543:p.Asp231Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.D231N	ENST00000325250.1	37	c.691	CCDS14216.1	X	.	.	.	.	.	.	.	.	.	.	G	5.343	0.248606	0.10130	.	.	ENSG00000176774	ENST00000325250	T	0.04654	3.58	4.56	2.44	0.29823	.	0.414727	0.26859	N	0.022129	T	0.03263	0.0095	N	0.20807	0.61	0.09310	N	1	B	0.17038	0.02	B	0.16722	0.016	T	0.39354	-0.9618	10	0.59425	D	0.04	.	5.4632	0.16627	0.3089:0.0:0.6911:0.0	.	231	Q96M61	MAGBI_HUMAN	N	231	ENSP00000314543:D231N	ENSP00000314543:D231N	D	+	1	0	MAGEB18	26067714	0.181000	0.23161	0.137000	0.22149	0.059000	0.15707	0.957000	0.29215	0.473000	0.27368	0.600000	0.82982	GAT	MAGEB18	-	pfam_MAGE,pfscan_MAGE		0.498	MAGEB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB18	HGNC	protein_coding	OTTHUMT00000056120.1	G	NM_173699		26157793	+1	no_errors	ENST00000325250	ensembl	human	known	70_37	missense	SNP	0.136	A
MAGEH1	28986	genome.wustl.edu	37	X	55479285	55479285	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:55479285G>C	ENST00000342972.1	+	1	748	c.478G>C	c.(478-480)Gag>Cag	p.E160Q	hsa-mir-4536-2_ENST00000583537.1_RNA	NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	160	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				apoptotic process (GO:0006915)	cytoplasm (GO:0005737)		p.E160Q(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						GGTGGAGTATGAGTTCTTCTG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											91.0	88.0	89.0					X																	55479285		2203	4300	6503	SO:0001583	missense	28986			AF320912	CCDS14369.1	Xp11.22	2008-02-05			ENSG00000187601	ENSG00000187601			24092	protein-coding gene	gene with protein product		300548				12414813, 9485030	Standard	NM_014061		Approved	APR1	uc004dum.3	Q9H213	OTTHUMG00000021655	ENST00000342972.1:c.478G>C	X.37:g.55479285G>C	ENSP00000343706:p.Glu160Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8V9|Q5JRJ3|Q9Y5M2	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E160Q	ENST00000342972.1	37	c.478	CCDS14369.1	X	.	.	.	.	.	.	.	.	.	.	.	9.205	1.029497	0.19512	.	.	ENSG00000187601	ENST00000342972	T	0.05855	3.38	3.17	1.31	0.21738	.	0.000000	0.34411	N	0.003988	T	0.09862	0.0242	L	0.37850	1.14	0.09310	N	1	P	0.44816	0.844	P	0.58620	0.842	T	0.11717	-1.0576	10	0.48119	T	0.1	-6.2854	3.4746	0.07579	0.1431:0.0:0.6103:0.2466	.	160	Q9H213	MAGH1_HUMAN	Q	160	ENSP00000343706:E160Q	ENSP00000343706:E160Q	E	+	1	0	MAGEH1	55496010	0.005000	0.15991	0.021000	0.16686	0.002000	0.02628	0.338000	0.19858	0.210000	0.20664	0.597000	0.82753	GAG	MAGEH1	-	pfam_MAGE,pfscan_MAGE		0.517	MAGEH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEH1	HGNC	protein_coding	OTTHUMT00000056868.1	G	NM_014061		55479285	+1	no_errors	ENST00000342972	ensembl	human	known	70_37	missense	SNP	0.020	C
MAGEE2	139599	genome.wustl.edu	37	X	75003459	75003459	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:75003459G>A	ENST00000373359.2	-	1	1620	c.1428C>T	c.(1426-1428)atC>atT	p.I476I		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	476	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.I476M(1)|p.I476I(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTTCATTTTGATGGTTTCAT	0.493																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	cervix(1)|lung(1)											95.0	79.0	84.0					X																	75003459		2203	4300	6503	SO:0001819	synonymous_variant	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.1428C>T	X.37:g.75003459G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSI5	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.I476	ENST00000373359.2	37	c.1428	CCDS14431.1	X																																																																																			MAGEE2	-	pfam_MAGE,pfscan_MAGE		0.493	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE2	HGNC	protein_coding	OTTHUMT00000057288.1	G	NM_138703		75003459	-1	no_errors	ENST00000373359	ensembl	human	known	70_37	silent	SNP	0.998	A
MAML1	9794	genome.wustl.edu	37	5	179201031	179201031	+	Nonsense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:179201031C>G	ENST00000292599.3	+	5	2467	c.2204C>G	c.(2203-2205)tCa>tGa	p.S735*	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.S735*(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCACAAACTCAGGCCAACAG	0.572																																																	1	Substitution - Nonsense(1)	cervix(1)											62.0	62.0	62.0					5																	179201031		2203	4300	6503	SO:0001587	stop_gained	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2204C>G	5.37:g.179201031C>G	ENSP00000292599:p.Ser735*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Neuroggenic_mastermind-like_N	p.S735*	ENST00000292599.3	37	c.2204	CCDS34315.1	5	.	.	.	.	.	.	.	.	.	.	C	33	5.267829	0.95399	.	.	ENSG00000161021	ENST00000292599	.	.	.	5.1	4.2	0.49525	.	0.279688	0.30649	N	0.009165	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-3.6198	11.0154	0.47685	0.1455:0.7143:0.1403:0.0	.	.	.	.	X	735	.	ENSP00000292599:S735X	S	+	2	0	MAML1	179133637	0.834000	0.29399	0.443000	0.26883	0.123000	0.20343	2.761000	0.47589	1.082000	0.41137	0.462000	0.41574	TCA	MAML1	-	NULL		0.572	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179201031	+1	no_errors	ENST00000292599	ensembl	human	known	70_37	nonsense	SNP	0.250	G
MAML1	9794	genome.wustl.edu	37	5	179201368	179201368	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:179201368C>T	ENST00000292599.3	+	5	2804	c.2541C>T	c.(2539-2541)ctC>ctT	p.L847L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)									p.L847L(1)		central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCCGAACCTCAGTGGCCAGA	0.587																																																	1	Substitution - coding silent(1)	cervix(1)											49.0	47.0	47.0					5																	179201368		2203	4300	6503	SO:0001819	synonymous_variant	9794			D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.2541C>T	5.37:g.179201368C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Neuroggenic_mastermind-like_N	p.L847	ENST00000292599.3	37	c.2541	CCDS34315.1	5																																																																																			MAML1	-	NULL		0.587	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAML1	HGNC	protein_coding	OTTHUMT00000372316.2	C	NM_014757		179201368	+1	no_errors	ENST00000292599	ensembl	human	known	70_37	silent	SNP	0.980	T
MDN1	23195	genome.wustl.edu	37	6	90484342	90484342	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:90484342C>G	ENST00000369393.3	-	13	2047	c.1932G>C	c.(1930-1932)caG>caC	p.Q644H	MDN1_ENST00000428876.1_Missense_Mutation_p.Q644H			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	644					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)	p.Q644H(1)		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)		CTACTTACCTCTGTAGGTGAA	0.443																																																	1	Substitution - Missense(1)	cervix(1)											143.0	128.0	133.0					6																	90484342		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.1932G>C	6.37:g.90484342C>G	ENSP00000358400:p.Gln644His	Somatic		WXS	Illumina HiSeq	Phase_IV	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.Q644H	ENST00000369393.3	37	c.1932	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	5.916	0.352996	0.11182	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.18657	3.95;3.95;2.2	5.39	3.51	0.40186	.	0.304459	0.30920	N	0.008606	T	0.03915	0.0110	N	0.12182	0.205	0.30441	N	0.776162	B;B	0.19817	0.002;0.039	B;B	0.20384	0.004;0.029	T	0.26121	-1.0112	10	0.42905	T	0.14	.	5.2472	0.15502	0.0:0.472:0.3789:0.1491	.	571;644	Q5T795;Q9NU22	.;MDN1_HUMAN	H	644;644;571	ENSP00000358400:Q644H;ENSP00000413970:Q644H;ENSP00000409664:Q571H	ENSP00000358400:Q644H	Q	-	3	2	MDN1	90541063	1.000000	0.71417	0.999000	0.59377	0.172000	0.22775	0.848000	0.27710	2.528000	0.85240	0.655000	0.94253	CAG	MDN1	-	pirsf_Midasin		0.443	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90484342	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	0.997	G
Unknown	0	genome.wustl.edu	37	17	20493608	20493608	+	IGR	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:20493608C>A								CDRT15L2 (9384 upstream) : AC087499.10 (22616 downstream)																							CGAGACAGAGCCACACGTGGC	0.577																																																	0																																										SO:0001628	intergenic_variant	257468																															17.37:g.20493608C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		17																																																																																			MEIS3P2	-	-	0	0.577					MEIS3P2	HGNC			C			20493608	+1	no_errors	ENST00000340731	ensembl	human	known	70_37	rna	SNP	1.000	A
MED1	5469	genome.wustl.edu	37	17	37571569	37571569	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:37571569C>T	ENST00000394287.3	-	15	1526	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	MED1_ENST00000300651.6_Missense_Mutation_p.E441K			O95243	MBD4_HUMAN	mediator complex subunit 1	0					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depyrimidination (GO:0045008)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|mitotic G2 DNA damage checkpoint (GO:0007095)|response to radiation (GO:0009314)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	endodeoxyribonuclease activity (GO:0004520)|pyrimidine-specific mismatch base pair DNA N-glycosylase activity (GO:0008263)|satellite DNA binding (GO:0003696)	p.E441K(1)		NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GGACACACTTCAAATTGGAGA	0.483										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												1	Substitution - Missense(1)	cervix(1)											58.0	48.0	52.0					17																	37571569		2203	4300	6503	SO:0001583	missense	5469			L40366	CCDS11336.1	17q12	2007-07-30	2007-07-30	2007-07-30	ENSG00000125686	ENSG00000125686			9234	protein-coding gene	gene with protein product		604311	"""PPAR binding protein"""	TRIP2, PPARGBP, PPARBP		9325263, 10485914	Standard	NM_004774		Approved	PBP, TRAP220, RB18A, DRIP230, CRSP200, CRSP1	uc002hrv.4	Q15648	OTTHUMG00000133216	ENST00000394287.3:c.1321G>A	17.37:g.37571569C>T	ENSP00000377828:p.Glu441Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.E441K	ENST00000394287.3	37	c.1321		17	.	.	.	.	.	.	.	.	.	.	C	35	5.556661	0.96514	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.55413	0.52	5.7	5.7	0.88788	.	.	.	.	.	T	0.64023	0.2561	M	0.64997	1.995	0.80722	D	1	D;D	0.58268	0.982;0.971	P;P	0.51266	0.664;0.572	T	0.67189	-0.5733	9	0.87932	D	0	-6.162	19.9129	0.97029	0.0:1.0:0.0:0.0	.	441;441	Q15648;Q15648-3	MED1_HUMAN;.	K	441	ENSP00000300651:E441K	ENSP00000300651:E441K	E	-	1	0	MED1	34825095	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.720000	0.84759	2.716000	0.92895	0.644000	0.83932	GAA	MED1	-	NULL		0.483	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	C	NM_004774		37571569	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	T
MEP1B	4225	genome.wustl.edu	37	18	29784241	29784241	+	Silent	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:29784241C>G	ENST00000269202.6	+	7	512	c.465C>G	c.(463-465)ctC>ctG	p.L155L	MEP1B_ENST00000581447.1_Silent_p.L155L	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	155	Metalloprotease.				digestion (GO:0007586)|inflammatory response (GO:0006954)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.L155L(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGAGTTCCTCCACGCTCTGG	0.483																																																	1	Substitution - coding silent(1)	cervix(1)											123.0	127.0	126.0					18																	29784241		2014	4189	6203	SO:0001819	synonymous_variant	4225			X81333	CCDS45846.1	18q12.2-q12.3	2003-12-17				ENSG00000141434	3.4.24.18		7020	protein-coding gene	gene with protein product		600389				7774936	Standard	NM_005925		Approved		uc002kxj.4	Q16820		ENST00000269202.6:c.465C>G	18.37:g.29784241C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM35|B9EGL6|Q670J1	Silent	SNP	pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom	p.L155	ENST00000269202.6	37	c.465	CCDS45846.1	18																																																																																			MEP1B	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A		0.483	MEP1B-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MEP1B	HGNC	protein_coding	OTTHUMT00000447755.1	C	NM_005925		29784241	+1	no_errors	ENST00000269202	ensembl	human	known	70_37	silent	SNP	0.951	G
C3orf52	79669	genome.wustl.edu	37	3	111831724	111831724	+	Intron	DEL	A	A	-	rs76778672		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:111831724delA	ENST00000264848.5	+	5	526				C3orf52_ENST00000467942.2_Intron|C3orf52_ENST00000431717.2_Intron|C3orf52_ENST00000430855.1_Intron|MIR567_ENST00000385205.1_RNA	NM_024616.2	NP_078892	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						ATGCAAAACTAAAAAAAAAAA	0.323																																																	0													45.0	42.0	43.0					3																	111831724		1560	3556	5116	SO:0001627	intron_variant	693152			AY830714	CCDS46887.1, CCDS54620.1	3q13.2	2006-01-30			ENSG00000114529	ENSG00000114529			26255	protein-coding gene	gene with protein product	"""TPA induced trans-membrane protein"""	611956				15737651	Standard	NM_024616		Approved	FLJ23186, TTMP	uc011bhs.2	Q5BVD1	OTTHUMG00000159230	ENST00000264848.5:c.468-87A>-	3.37:g.111831724delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNV2|B4E0Z2|Q96AJ4|Q9H5Q1	RNA	DEL	-	NULL	ENST00000264848.5	37	NULL	CCDS46887.1	3																																																																																			MIR567	-	-		0.323	C3orf52-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR567	HGNC	protein_coding	OTTHUMT00000353961.1	A	NM_024616		111831724	+1	no_errors	ENST00000385205	ensembl	human	known	70_37	rna	DEL	0.000	-
KMT2C	58508	genome.wustl.edu	37	7	151917764	151917764	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:151917764G>A	ENST00000262189.6	-	23	3774	c.3556C>T	c.(3556-3558)Cag>Tag	p.Q1186*	KMT2C_ENST00000355193.2_Nonsense_Mutation_p.Q1186*	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	1186					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Q1186*(2)									CTCTGTAACTGAGTCATCCCT	0.383																																																	2	Substitution - Nonsense(2)	cervix(2)											67.0	63.0	65.0					7																	151917764		2203	4297	6500	SO:0001587	stop_gained	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.3556C>T	7.37:g.151917764G>A	ENSP00000262189:p.Gln1186*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q1186*	ENST00000262189.6	37	c.3556	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	44	10.700319	0.99452	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	.	.	.	4.44	4.44	0.53790	.	0.000000	0.41605	U	0.000844	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	17.4147	0.87496	0.0:0.0:1.0:0.0	.	.	.	.	X	1186	.	ENSP00000262189:Q1186X	Q	-	1	0	MLL3	151548697	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.351000	0.97073	2.161000	0.67846	0.484000	0.47621	CAG	MLL3	-	NULL		0.383	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151917764	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MRE11A	4361	genome.wustl.edu	37	11	94192676	94192676	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:94192676C>T	ENST00000323929.3	-	13	1620	c.1398G>A	c.(1396-1398)gaG>gaA	p.E466E	MRE11A_ENST00000393241.4_Silent_p.E466E|MRE11A_ENST00000323977.3_Silent_p.E466E|MRE11A_ENST00000407439.3_Silent_p.E469E	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	466					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.E466E(2)		breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TGGCATCTTTCTCCTCCTTGT	0.413								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								2	Substitution - coding silent(2)	cervix(2)											195.0	177.0	183.0					11																	94192676		2201	4298	6499	SO:0001819	synonymous_variant	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.1398G>A	11.37:g.94192676C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43475	Silent	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.E466	ENST00000323929.3	37	c.1398	CCDS8299.1	11																																																																																			MRE11A	-	pirsf_DNA_repair_Mre11		0.413	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	C	NM_005591		94192676	-1	no_errors	ENST00000323929	ensembl	human	known	70_37	silent	SNP	0.965	T
MRPS30	10884	genome.wustl.edu	37	5	44813303	44813303	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:44813303G>A	ENST00000507110.1	+	4	987	c.949G>A	c.(949-951)Gct>Act	p.A317T		NM_016640.3	NP_057724.2	Q9NP92	RT30_HUMAN	mitochondrial ribosomal protein S30	317					apoptotic process (GO:0006915)|translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.A317T(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(11)|prostate(1)	20	Lung NSC(6;8.08e-07)					ACAAAACTGTGCTGATCAGAT	0.383																																																	2	Substitution - Missense(2)	cervix(2)											94.0	93.0	93.0					5																	44813303		2203	4300	6503	SO:0001583	missense	10884			AF146192	CCDS3951.1	5q11	2012-09-13		2001-11-09	ENSG00000112996	ENSG00000112996		"""Mitochondrial ribosomal proteins / small subunits"""	8769	protein-coding gene	gene with protein product		611991		PDCD9		10640817, 11279123	Standard	NM_016640		Approved	PAP	uc003joh.3	Q9NP92	OTTHUMG00000096967	ENST00000507110.1:c.949G>A	5.37:g.44813303G>A	ENSP00000424328:p.Ala317Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96I91|Q96Q19|Q9H0P8|Q9NSF9|Q9NZ76	Missense_Mutation	SNP	pfam_Ribosomal_L37/S30	p.A317T	ENST00000507110.1	37	c.949	CCDS3951.1	5	.	.	.	.	.	.	.	.	.	.	G	15.73	2.918472	0.52546	.	.	ENSG00000112996	ENST00000507110	T	0.17854	2.25	5.78	5.78	0.91487	.	0.162190	0.56097	D	0.000035	T	0.28499	0.0705	L	0.55481	1.735	0.44380	D	0.99728	P	0.47253	0.892	P	0.51055	0.657	T	0.01087	-1.1456	10	0.11182	T	0.66	-11.9547	20.3668	0.98882	0.0:0.0:1.0:0.0	.	317	Q9NP92	RT30_HUMAN	T	317	ENSP00000424328:A317T	ENSP00000424328:A317T	A	+	1	0	MRPS30	44849060	1.000000	0.71417	1.000000	0.80357	0.768000	0.43524	3.454000	0.52986	2.894000	0.99253	0.655000	0.94253	GCT	MRPS30	-	pfam_Ribosomal_L37/S30		0.383	MRPS30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS30	HGNC	protein_coding	OTTHUMT00000214033.2	G	NM_016640		44813303	+1	no_errors	ENST00000507110	ensembl	human	known	70_37	missense	SNP	1.000	A
MTMR11	10903	genome.wustl.edu	37	1	149902287	149902287	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:149902287G>C	ENST00000439741.2	-	15	1867	c.1617C>G	c.(1615-1617)caC>caG	p.H539Q	MTMR11_ENST00000406732.3_3'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000369140.3_Missense_Mutation_p.H467Q|MTMR11_ENST00000361405.6_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	539	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)	p.H539Q(1)|p.H467Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AATCTGGACAGTGTTCTGGGT	0.473																																																	2	Substitution - Missense(2)	cervix(2)											160.0	149.0	153.0					1																	149902287		2203	4300	6503	SO:0001583	missense	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1617C>G	1.37:g.149902287G>C	ENSP00000391668:p.His539Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Missense_Mutation	SNP	pfam_Myotubularin_assoc,pfam_Myotub-related	p.H539Q	ENST00000439741.2	37	c.1617	CCDS53360.1	1	.	.	.	.	.	.	.	.	.	.	G	14.64	2.594378	0.46214	.	.	ENSG00000014914	ENST00000369140;ENST00000439741	D;D	0.89746	-2.56;-2.56	5.27	1.22	0.21188	Myotubularin phosphatase domain (1);	0.594387	0.18392	N	0.142624	T	0.62539	0.2436	N	0.24115	0.695	0.80722	D	1	B;P	0.37466	0.403;0.596	B;B	0.35607	0.206;0.143	T	0.55698	-0.8100	10	0.23302	T	0.38	.	4.2059	0.10488	0.2794:0.1714:0.5492:0.0	.	467;539	A4FU01-4;A4FU01	.;MTMRB_HUMAN	Q	467;539	ENSP00000358136:H467Q;ENSP00000391668:H539Q	ENSP00000358136:H467Q	H	-	3	2	MTMR11	148168911	0.194000	0.23325	0.991000	0.47740	0.958000	0.62258	-0.044000	0.12023	0.063000	0.16370	0.655000	0.94253	CAC	MTMR11	-	NULL		0.473	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149902287	-1	no_errors	ENST00000439741	ensembl	human	known	70_37	missense	SNP	0.996	C
MXRA5	25878	genome.wustl.edu	37	X	3229099	3229099	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:3229099G>A	ENST00000217939.6	-	7	7299	c.7145C>T	c.(7144-7146)tCc>tTc	p.S2382F		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2382	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)		p.S2382F(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTTGGTTGGGGACAACCAAGT	0.532																																																	2	Substitution - Missense(2)	cervix(2)											119.0	101.0	107.0					X																	3229099		2203	4300	6503	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7145C>T	X.37:g.3229099G>A	ENSP00000217939:p.Ser2382Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S2382F	ENST00000217939.6	37	c.7145	CCDS14124.1	X	.	.	.	.	.	.	.	.	.	.	G	7.727	0.698448	0.15106	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.26223	1.75	3.97	3.97	0.46021	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.37857	U	0.001913	T	0.35098	0.0920	N	0.16790	0.44	0.44104	D	0.996879	D	0.89917	1.0	D	0.91635	0.999	T	0.36114	-0.9761	10	0.56958	D	0.05	.	15.78	0.78252	0.0:0.0:1.0:0.0	.	2382	Q9NR99	MXRA5_HUMAN	F	2382	ENSP00000217939:S2382F	ENSP00000217939:S2382F	S	-	2	0	MXRA5	3239099	1.000000	0.71417	0.007000	0.13788	0.031000	0.12232	4.965000	0.63708	1.616000	0.50265	0.597000	0.82753	TCC	MXRA5	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MXRA5	HGNC	protein_coding	OTTHUMT00000055655.2	G	NM_015419		3229099	-1	no_errors	ENST00000217939	ensembl	human	known	70_37	missense	SNP	0.947	A
MYO5A	4644	genome.wustl.edu	37	15	52671836	52671836	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:52671836C>T	ENST00000399231.3	-	18	2437	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	MYO5A_ENST00000399233.2_Missense_Mutation_p.E732K|MYO5A_ENST00000358212.6_Missense_Mutation_p.E732K|MYO5A_ENST00000553916.1_Missense_Mutation_p.E732K|MYO5A_ENST00000356338.6_Missense_Mutation_p.E732K	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	732	Myosin motor.				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)	p.E732K(1)		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)		ATCAGTTTCTCTAACACATTC	0.433																																																	1	Substitution - Missense(1)	cervix(1)											158.0	150.0	153.0					15																	52671836		1909	4141	6050	SO:0001583	missense	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.2194G>A	15.37:g.52671836C>T	ENSP00000382177:p.Glu732Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	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.E732K	ENST00000399231.3	37	c.2194	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	22.6	4.317237	0.81469	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2	5.51	5.51	0.81932	Myosin head, motor domain (2);	0.048973	0.85682	D	0.000000	T	0.80071	0.4556	N	0.17674	0.51	0.80722	D	1	B;P	0.43287	0.097;0.802	B;B	0.40677	0.058;0.337	T	0.77582	-0.2534	10	0.13470	T	0.59	.	19.4172	0.94706	0.0:1.0:0.0:0.0	.	732;732	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	K	732;266;732;732;732;362;732	ENSP00000382177:E732K;ENSP00000382179:E732K;ENSP00000348693:E732K;ENSP00000350945:E732K;ENSP00000451109:E732K	ENSP00000348693:E732K	E	-	1	0	MYO5A	50459128	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.858000	0.62947	2.580000	0.87095	0.655000	0.94253	GAG	MYO5A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.433	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52671836	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO7B	4648	genome.wustl.edu	37	2	128340010	128340010	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:128340010C>T	ENST00000409816.2	+	11	1364	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F	MYO7B_ENST00000428314.1_Silent_p.F444F|MYO7B_ENST00000389524.4_Silent_p.F444F			Q6PIF6	MYO7B_HUMAN	myosin VIIB	444	Myosin motor.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.F444F(2)		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)		TTGAAAATTTCGAGAACAATA	0.522																																																	2	Substitution - coding silent(2)	cervix(2)											35.0	37.0	36.0					2																	128340010		1945	4146	6091	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.1332C>T	2.37:g.128340010C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.F444	ENST00000409816.2	37	c.1332	CCDS46405.1	2																																																																																			MYO7B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.522	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MYO7B	HGNC	protein_coding	OTTHUMT00000331124.3	C	XM_291001		128340010	+1	no_errors	ENST00000389524	ensembl	human	known	70_37	silent	SNP	0.691	T
NAALADL2	254827	genome.wustl.edu	37	3	174814830	174814830	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:174814830G>C	ENST00000454872.1	+	2	422	c.294G>C	c.(292-294)caG>caC	p.Q98H	NAALADL2_ENST00000473253.1_3'UTR|NAALADL2-AS3_ENST00000453180.1_RNA	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	98						integral component of membrane (GO:0016021)		p.Q98H(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GAAGGTTCCAGAGACTTCAAG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											66.0	65.0	65.0					3																	174814830		1871	4105	5976	SO:0001583	missense	254827				CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.294G>C	3.37:g.174814830G>C	ENSP00000404705:p.Gln98His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Missense_Mutation	SNP	superfamily_TFR-like_dimer_dom	p.Q98H	ENST00000454872.1	37	c.294	CCDS46960.1	3	.	.	.	.	.	.	.	.	.	.	G	16.10	3.027486	0.54683	.	.	ENSG00000177694	ENST00000434257;ENST00000454872	T;T	0.34859	1.38;1.34	5.72	5.72	0.89469	.	0.000000	0.51477	D	0.000096	T	0.47192	0.1432	L	0.27053	0.805	0.29442	N	0.859113	D;D	0.76494	0.999;0.999	D;D	0.76071	0.987;0.97	T	0.45249	-0.9274	10	0.87932	D	0	-13.5246	14.4265	0.67220	0.0704:0.0:0.9296:0.0	.	81;98	Q58DX5-2;Q58DX5	.;NADL2_HUMAN	H	81;98	ENSP00000409858:Q81H;ENSP00000404705:Q98H	ENSP00000409858:Q81H	Q	+	3	2	NAALADL2	176297524	1.000000	0.71417	0.993000	0.49108	0.996000	0.88848	3.738000	0.55067	2.850000	0.98022	0.650000	0.86243	CAG	NAALADL2	-	NULL		0.433	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAALADL2	HGNC	protein_coding	OTTHUMT00000347390.2	G	NM_207015		174814830	+1	no_errors	ENST00000454872	ensembl	human	known	70_37	missense	SNP	0.998	C
NCAPG	64151	genome.wustl.edu	37	4	17839398	17839398	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:17839398C>T	ENST00000251496.2	+	16	2616	c.2440C>T	c.(2440-2442)Cag>Tag	p.Q814*		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	814					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)		p.Q814*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTAAATCCTCAGGCCAAGAC	0.408																																																	1	Substitution - Nonsense(1)	cervix(1)											144.0	141.0	142.0					4																	17839398		2203	4300	6503	SO:0001587	stop_gained	64151			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2440C>T	4.37:g.17839398C>T	ENSP00000251496:p.Gln814*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q814*	ENST00000251496.2	37	c.2440	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	C	37	6.223870	0.97390	.	.	ENSG00000109805	ENST00000251496	.	.	.	5.25	3.48	0.39840	.	0.165435	0.56097	D	0.000038	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-1.9998	9.0823	0.36558	0.2634:0.6672:0.0:0.0695	.	.	.	.	X	814	.	ENSP00000251496:Q814X	Q	+	1	0	NCAPG	17448496	0.977000	0.34250	1.000000	0.80357	0.365000	0.29674	0.541000	0.23207	0.663000	0.31027	0.591000	0.81541	CAG	NCAPG	-	NULL		0.408	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1	C	NM_022346		17839398	+1	no_errors	ENST00000251496	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NCKAP1	10787	genome.wustl.edu	37	2	183826922	183826922	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:183826922C>T	ENST00000361354.4	-	18	2218	c.1846G>A	c.(1846-1848)Gat>Aat	p.D616N	NCKAP1_ENST00000360982.2_Missense_Mutation_p.D622N	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	616					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)	p.D622N(1)		breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GTGCAAATATCAGTGATGAGA	0.383																																																	1	Substitution - Missense(1)	cervix(1)											175.0	159.0	165.0					2																	183826922		2203	4300	6503	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.1846G>A	2.37:g.183826922C>T	ENSP00000355348:p.Asp616Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	pfam_Nck-associated_protein-1	p.D622N	ENST00000361354.4	37	c.1864	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158261	0.57368	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.30182	1.54;1.54	5.05	5.05	0.67936	.	0.043673	0.85682	D	0.000000	T	0.27967	0.0689	N	0.03608	-0.345	0.80722	D	1	D;D	0.59357	0.985;0.981	P;P	0.58970	0.849;0.765	T	0.26985	-1.0087	10	0.15499	T	0.54	-15.4449	18.773	0.91899	0.0:1.0:0.0:0.0	.	616;622	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	N	616;622	ENSP00000355348:D616N;ENSP00000354251:D622N	ENSP00000354251:D622N	D	-	1	0	NCKAP1	183535167	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.794000	0.85869	2.517000	0.84864	0.655000	0.94253	GAT	NCKAP1	-	pfam_Nck-associated_protein-1		0.383	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	HGNC	protein_coding	OTTHUMT00000255867.2	C	NM_205842		183826922	-1	no_errors	ENST00000360982	ensembl	human	known	70_37	missense	SNP	1.000	T
NEFH	4744	genome.wustl.edu	37	22	29886321	29886321	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:29886321G>A	ENST00000310624.6	+	4	2725	c.2692G>A	c.(2692-2694)Gaa>Aaa	p.E898K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	904	Tail.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.E898K(1)		cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GGAAGAGGCTGAAGATAAGAA	0.502																																																	1	Substitution - Missense(1)	cervix(1)											54.0	60.0	58.0					22																	29886321		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.2692G>A	22.37:g.29886321G>A	ENSP00000311997:p.Glu898Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E898K	ENST00000310624.6	37	c.2692	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	13.47	2.245534	0.39697	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.85171	-1.95	5.8	3.63	0.41609	.	0.724406	0.12423	N	0.470245	T	0.80737	0.4680	L	0.50333	1.59	0.22199	N	0.999293	B	0.10296	0.003	B	0.06405	0.002	T	0.65578	-0.6134	10	0.27785	T	0.31	.	11.4442	0.50114	0.0692:0.1262:0.8046:0.0	.	904	P12036	NFH_HUMAN	K	849;898	ENSP00000311997:E898K	ENSP00000311997:E898K	E	+	1	0	NEFH	28216321	0.002000	0.14202	0.607000	0.28956	0.940000	0.58332	0.849000	0.27723	0.729000	0.32403	0.655000	0.94253	GAA	NEFH	-	NULL		0.502	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29886321	+1	no_errors	ENST00000310624	ensembl	human	known	70_37	missense	SNP	0.585	A
NFE2L2	4780	genome.wustl.edu	37	2	178098960	178098960	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:178098960C>G	ENST00000397062.3	-	2	639	c.85G>C	c.(85-87)Gat>Cat	p.D29H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D13H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D13H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D13H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	29					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D29H(11)|p.D29N(2)|p.D29Y(2)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			ACTCCAAGATCTATATCTTGC	0.363			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																														Dom	yes		2	2q31	4780	nuclear factor (erythroid-derived 2)-like 2 (NRF2)		E	15	Substitution - Missense(15)	lung(9)|upper_aerodigestive_tract(3)|cervix(1)|liver(1)|kidney(1)											66.0	59.0	61.0					2																	178098960		1843	4100	5943	SO:0001583	missense	4780				CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.85G>C	2.37:g.178098960C>G	ENSP00000380252:p.Asp29His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,superfamily_Serpin_dom,smart_bZIP,pfscan_bZIP	p.D29H	ENST00000397062.3	37	c.85	CCDS42782.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.072800	0.76415	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31247	1.5;1.5;1.5;1.5;1.5;1.5;1.5	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	13;13;13;29	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	13;29;13;13;13;13;13	ENSP00000380253:D13H;ENSP00000380252:D29H;ENSP00000411575:D13H;ENSP00000391590:D13H;ENSP00000400073:D13H;ENSP00000412191:D13H;ENSP00000410015:D13H	ENSP00000380252:D29H	D	-	1	0	NFE2L2	177807206	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT	NFE2L2	-	NULL		0.363	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	NFE2L2	HGNC	protein_coding	OTTHUMT00000257752.4	C	NM_006164		178098960	-1	no_errors	ENST00000397062	ensembl	human	known	70_37	missense	SNP	1.000	G
NKAIN2	154215	genome.wustl.edu	37	6	124979388	124979388	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:124979388G>A	ENST00000368417.1	+	4	390	c.330G>A	c.(328-330)gaG>gaA	p.E110E	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000368416.1_Silent_p.E110E|NKAIN2_ENST00000545433.1_Silent_p.E95E	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	110						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.E110E(1)		cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		GGTGGATGGAGAATGGACCAG	0.473																																																	1	Substitution - coding silent(1)	cervix(1)											144.0	133.0	137.0					6																	124979388		2203	4300	6503	SO:0001819	synonymous_variant	154215			AB070452	CCDS34526.1	6q21	2008-02-05	2007-10-04	2007-10-04	ENSG00000188580	ENSG00000188580		"""Na+/K+ transporting ATPase interacting"""	16443	protein-coding gene	gene with protein product		609758	"""T-cell lymphoma breakpoint associated target 1"""	TCBA1		17606467	Standard	XM_005266833		Approved	FAM77B	uc003pzo.3	Q5VXU1	OTTHUMG00000015500	ENST00000368417.1:c.330G>A	6.37:g.124979388G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYR4|Q8TF67	Silent	SNP	pfam_Na/K-Atpase_Interacting	p.E110	ENST00000368417.1	37	c.330	CCDS34526.1	6																																																																																			NKAIN2	-	pfam_Na/K-Atpase_Interacting		0.473	NKAIN2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NKAIN2	HGNC	protein_coding	OTTHUMT00000042057.1	G	NM_001040214		124979388	+1	no_errors	ENST00000368417	ensembl	human	known	70_37	silent	SNP	1.000	A
NLRP11	204801	genome.wustl.edu	37	19	56321310	56321310	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:56321310C>G	ENST00000589093.1	-	3	759	c.666G>C	c.(664-666)aaG>aaC	p.K222N	NLRP11_ENST00000592953.1_Missense_Mutation_p.K123N|NLRP11_ENST00000589824.2_Missense_Mutation_p.K222N|NLRP11_ENST00000360133.3_Missense_Mutation_p.K222N|NLRP11_ENST00000443188.1_Missense_Mutation_p.K222N			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	222	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)	p.K222N(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAAGGAGTTTCTTGGGATCAG	0.473																																																	1	Substitution - Missense(1)	cervix(1)											84.0	82.0	83.0					19																	56321310		2203	4300	6503	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.666G>C	19.37:g.56321310C>G	ENSP00000466285:p.Lys222Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.K222N	ENST00000589093.1	37	c.666	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	C	13.17	2.158363	0.38119	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.78816	-1.21;-1.21	2.48	1.38	0.22167	NACHT nucleoside triphosphatase (1);	.	.	.	.	T	0.78091	0.4229	L	0.42245	1.32	0.09310	N	1	D;P	0.55385	0.971;0.935	P;P	0.61722	0.893;0.879	T	0.64542	-0.6383	9	0.66056	D	0.02	.	3.6858	0.08327	0.0:0.5827:0.2646:0.1527	.	222;222	P59045;P59045-2	NAL11_HUMAN;.	N	222	ENSP00000409898:K222N;ENSP00000353251:K222N	ENSP00000353251:K222N	K	-	3	2	NLRP11	61013122	0.002000	0.14202	0.001000	0.08648	0.003000	0.03518	-0.068000	0.11561	0.560000	0.29169	0.609000	0.83330	AAG	NLRP11	-	pfscan_NACHT_NTPase		0.473	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	C	NM_145007		56321310	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	missense	SNP	0.001	G
NPTN	27020	genome.wustl.edu	37	15	73889684	73889684	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:73889684C>G	ENST00000345330.4	-	2	315	c.118G>C	c.(118-120)Gaa>Caa	p.E40Q	NPTN_ENST00000351217.6_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.E40Q|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.E40Q|NPTN_ENST00000545878.1_Missense_Mutation_p.E40Q|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000562924.1_Intron	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	40	Ig-like 1.				homophilic cell adhesion (GO:0007156)|long-term synaptic potentiation (GO:0060291)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein phosphorylation (GO:0001934)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|presynaptic membrane (GO:0042734)	cell adhesion molecule binding (GO:0050839)|type 1 fibroblast growth factor receptor binding (GO:0005105)	p.E40Q(1)		breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						AGCTTAGTTTCTGACATGGGC	0.532																																					Pancreas(101;1519 1568 9459 19537 41286)|Esophageal Squamous(143;1278 1787 35254 36835 44843)												1	Substitution - Missense(1)	cervix(1)											35.0	35.0	35.0					15																	73889684		2198	4294	6492	SO:0001583	missense	27020			AF035287	CCDS10249.1, CCDS10250.1, CCDS58379.1, CCDS58380.1	15q24.1	2013-01-29	2006-02-22	2006-02-22	ENSG00000156642	ENSG00000156642		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17867	protein-coding gene	gene with protein product		612820	"""stromal cell derived factor receptor 1"""	SDFR1		8619474, 9110174	Standard	NM_012428		Approved	SDR1, GP55, GP65, np65, np55	uc002avs.3	Q9Y639	OTTHUMG00000137586	ENST00000345330.4:c.118G>C	15.37:g.73889684C>G	ENSP00000290401:p.Glu40Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAL7|B7Z4D3|B7ZLL2|Q17R52|Q59EJ9|Q6NVX7|Q9Y640	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E40Q	ENST00000345330.4	37	c.118	CCDS10249.1	15	.	.	.	.	.	.	.	.	.	.	C	13.33	2.205885	0.39003	.	.	ENSG00000156642	ENST00000345330;ENST00000545878;ENST00000287226	T;T;T	0.02446	4.29;4.29;4.29	5.61	5.61	0.85477	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.050406	0.85682	D	0.000000	T	0.03959	0.0111	N	0.01277	-0.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.71590	-0.4547	10	0.12766	T	0.61	.	20.0018	0.97417	0.0:1.0:0.0:0.0	.	40;40	Q9Y639-5;Q9Y639	.;NPTN_HUMAN	Q	40	ENSP00000290401:E40Q;ENSP00000444548:E40Q;ENSP00000287226:E40Q	ENSP00000287226:E40Q	E	-	1	0	NPTN	71676737	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.684000	0.84104	2.793000	0.96121	0.655000	0.94253	GAA	NPTN	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.532	NPTN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPTN	HGNC	protein_coding	OTTHUMT00000268980.1	C	NM_012428		73889684	-1	no_errors	ENST00000345330	ensembl	human	known	70_37	missense	SNP	1.000	G
NR6A1	2649	genome.wustl.edu	37	9	127300382	127300382	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:127300382C>G	ENST00000487099.2	-	6	970	c.813G>C	c.(811-813)ttG>ttC	p.L271F	NR6A1_ENST00000373584.3_Missense_Mutation_p.L267F|NR6A1_ENST00000416460.2_Missense_Mutation_p.L266F|NR6A1_ENST00000344523.4_Missense_Mutation_p.L270F	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	271					cell proliferation (GO:0008283)|gamete generation (GO:0007276)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|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)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.L271F(1)		NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						CATCTTCAATCAACATGGGCG	0.582																																					Esophageal Squamous(192;272 2884 6208 20560)												1	Substitution - Missense(1)	cervix(1)											90.0	82.0	85.0					9																	127300382		2203	4300	6503	SO:0001583	missense	2649			U64876	CCDS35137.1, CCDS55340.1, CCDS65127.1	9q33.3	2014-01-21			ENSG00000148200	ENSG00000148200		"""Nuclear hormone receptors"""	7985	protein-coding gene	gene with protein product		602778		GCNF		9134503, 8982251	Standard	NM_001489		Approved	GCNF1, RTR, CT150	uc004bor.1	Q15406	OTTHUMG00000020661	ENST00000487099.2:c.813G>C	9.37:g.127300382C>G	ENSP00000420267:p.Leu271Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00551|O00603|Q5T6F4|Q8NHQ0|Q92898|Q99802	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.L271F	ENST00000487099.2	37	c.813	CCDS35137.1	9	.	.	.	.	.	.	.	.	.	.	C	17.82	3.482274	0.63962	.	.	ENSG00000148200	ENST00000487099;ENST00000373584;ENST00000416460;ENST00000344523;ENST00000475178	D;D;D;D;D	0.95724	-3.15;-3.28;-3.27;-3.15;-3.79	5.39	5.39	0.77823	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.94988	0.8378	L	0.47716	1.5	0.53688	D	0.999977	D;D;D	0.67145	0.972;0.992;0.996	P;P;D	0.64321	0.468;0.851;0.924	D	0.91650	0.5334	10	0.10111	T	0.7	.	9.5122	0.39085	0.1488:0.6875:0.1637:0.0	.	267;271;266	F1DAM1;Q15406;Q15406-5	.;NR6A1_HUMAN;.	F	271;267;266;270;229	ENSP00000420267:L271F;ENSP00000362686:L267F;ENSP00000413701:L266F;ENSP00000341135:L270F;ENSP00000420587:L229F	ENSP00000341135:L270F	L	-	3	2	NR6A1	126340203	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	0.807000	0.27140	2.529000	0.85273	0.561000	0.74099	TTG	NR6A1	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.582	NR6A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NR6A1	HGNC	protein_coding	OTTHUMT00000054043.4	C			127300382	-1	no_errors	ENST00000487099	ensembl	human	known	70_37	missense	SNP	1.000	G
NRXN1	9378	genome.wustl.edu	37	2	50765725	50765725	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:50765725C>T	ENST00000406316.2	-	10	3285	c.1809G>A	c.(1807-1809)gaG>gaA	p.E603E	NRXN1_ENST00000401669.2_Silent_p.E603E|NRXN1_ENST00000404971.1_Silent_p.E643E|NRXN1_ENST00000402717.3_Silent_p.E595E|NRXN1_ENST00000406859.3_Silent_p.E603E|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Silent_p.E595E	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	603	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)	p.E603E(1)|p.E644E(1)|p.E643E(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAATCTCACTCTCACCAGGAG	0.502																																																	3	Substitution - coding silent(3)	cervix(3)											70.0	74.0	73.0					2																	50765725		2138	4266	6404	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.1809G>A	2.37:g.50765725C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.E595	ENST00000406316.2	37	c.1785	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.502	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	C			50765725	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	T
OR2B2	81697	genome.wustl.edu	37	6	27879219	27879219	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:27879219C>G	ENST00000303324.2	-	1	955	c.879G>C	c.(877-879)agG>agC	p.R293S		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	293						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R293S(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						CCTCTTTGTTCCTAAGTGTAT	0.403																																																	1	Substitution - Missense(1)	cervix(1)											74.0	74.0	74.0					6																	27879219		2203	4300	6503	SO:0001583	missense	81697			Z98744	CCDS4641.1	6p22.3-p21.3	2014-02-19	2002-02-28		ENSG00000168131	ENSG00000168131		"""GPCR / Class A : Olfactory receptors"""	13966	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily B, member 9"""	OR2B9			Standard	NM_033057		Approved	hs6M1-10, OR6-1, OR2B2Q	uc011dkw.2	Q9GZK3	OTTHUMG00000014495	ENST00000303324.2:c.879G>C	6.37:g.27879219C>G	ENSP00000304419:p.Arg293Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNH2|Q9GZL2|Q9Y299	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R293S	ENST00000303324.2	37	c.879	CCDS4641.1	6	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436252	0.43224	.	.	ENSG00000168131	ENST00000303324	T	0.39592	1.07	4.16	-3.48	0.04739	.	0.000000	0.42682	U	0.000671	T	0.41627	0.1167	M	0.65498	2.005	0.09310	N	0.999999	D	0.89917	1.0	D	0.83275	0.996	T	0.49390	-0.8945	10	0.87932	D	0	.	10.6845	0.45835	0.0:0.5086:0.0:0.4914	.	293	Q9GZK3	OR2B2_HUMAN	S	293	ENSP00000304419:R293S	ENSP00000304419:R293S	R	-	3	2	OR2B2	27987198	0.006000	0.16342	0.871000	0.34182	0.714000	0.41099	-1.526000	0.02229	-0.619000	0.05648	0.313000	0.20887	AGG	OR2B2	-	prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.403	OR2B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2B2	HGNC	protein_coding	OTTHUMT00000040163.1	C			27879219	-1	no_errors	ENST00000303324	ensembl	human	known	70_37	missense	SNP	0.178	G
OR4C16	219428	genome.wustl.edu	37	11	55340452	55340452	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:55340452G>A	ENST00000314634.3	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	283						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V283V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				TCAACCCTGTGATTTACACGC	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											70.0	66.0	67.0					11																	55340452		2201	4296	6497	SO:0001819	synonymous_variant	219428			AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.849G>A	11.37:g.55340452G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEV8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V283	ENST00000314634.3	37	c.849	CCDS31502.1	11																																																																																			OR4C16	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.378	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C16	HGNC	protein_coding	OTTHUMT00000382627.1	G	NM_001004701		55340452	+1	no_errors	ENST00000314634	ensembl	human	known	70_37	silent	SNP	0.374	A
OR4C6	219432	genome.wustl.edu	37	11	55432918	55432918	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:55432918C>T	ENST00000314259.3	+	1	305	c.276C>T	c.(274-276)ctC>ctT	p.L92L		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	92						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L92L(2)|p.L92P(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CCATCTCTCTCAAAGGCTGCC	0.502																																																	3	Substitution - coding silent(2)|Substitution - Missense(1)	lung(2)|cervix(1)											140.0	126.0	131.0					11																	55432918		2200	4296	6496	SO:0001819	synonymous_variant	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.276C>T	11.37:g.55432918C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP11|Q6IFD2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L92	ENST00000314259.3	37	c.276	CCDS31506.1	11																																																																																			OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.502	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	C	NM_001004704		55432918	+1	no_errors	ENST00000314259	ensembl	human	known	70_37	silent	SNP	0.000	T
OR5H6	79295	genome.wustl.edu	37	3	97983234	97983234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:97983234C>T	ENST00000383696.2	+	1	147	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	36						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q36*(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ATTTTTACATCAACCTGACTG	0.413																																																	1	Substitution - Nonsense(1)	cervix(1)											180.0	185.0	183.0					3																	97983234		2203	4299	6502	SO:0001587	stop_gained	79295			BK004374	CCDS33800.1	3q12.1	2013-10-10	2013-10-10		ENSG00000230301	ENSG00000230301		"""GPCR / Class A : Olfactory receptors"""	14767	protein-coding gene	gene with protein product			"""olfactory receptor, family 5, subfamily H, member 6"""				Standard	NM_001005479		Approved		uc003dsi.1	Q8NGV6	OTTHUMG00000160078	ENST00000383696.2:c.106C>T	3.37:g.97983234C>T	ENSP00000373196:p.Gln36*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF88	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q36*	ENST00000383696.2	37	c.106	CCDS33800.1	3	.	.	.	.	.	.	.	.	.	.	-	12.03	1.815704	0.32145	.	.	ENSG00000230301	ENST00000383696	.	.	.	2.19	1.21	0.21127	.	0.550372	0.15202	N	0.274955	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	.	6.4564	0.21932	0.5177:0.4823:0.0:0.0	.	.	.	.	X	36	.	ENSP00000373196:Q36X	Q	+	1	0	OR5H6	99465924	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-1.257000	0.02866	0.203000	0.20529	0.194000	0.17425	CAA	OR5H6	-	NULL		0.413	OR5H6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5H6	HGNC	protein_coding	OTTHUMT00000359111.2	C			97983234	+1	no_errors	ENST00000383696	ensembl	human	known	70_37	nonsense	SNP	0.004	T
OR9Q1	219956	genome.wustl.edu	37	11	57947066	57947066	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:57947066C>T	ENST00000335397.3	+	3	466	c.150C>T	c.(148-150)ctC>ctT	p.L50L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L50L(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				TTCTGATCCTCATGGATCACC	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											260.0	239.0	246.0					11																	57947066		2201	4296	6497	SO:0001819	synonymous_variant	219956			AB065734	CCDS31543.1	11q12.1	2012-08-09				ENSG00000186509		"""GPCR / Class A : Olfactory receptors"""	14724	protein-coding gene	gene with protein product							Standard	NM_001005212		Approved		uc001nmj.3	Q8NGQ5		ENST00000335397.3:c.150C>T	11.37:g.57947066C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TAN3|Q96RA7	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L50	ENST00000335397.3	37	c.150	CCDS31543.1	11																																																																																			OR9Q1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.458	OR9Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR9Q1	HGNC	protein_coding	OTTHUMT00000394538.2	C	NM_001005212		57947066	+1	no_errors	ENST00000335397	ensembl	human	known	70_37	silent	SNP	0.000	T
PARP14	54625	genome.wustl.edu	37	3	122439176	122439176	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:122439176G>C	ENST00000474629.2	+	15	5148	c.4882G>C	c.(4882-4884)Gag>Cag	p.E1628Q	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1628	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.E1465Q(1)|p.E1628Q(1)		NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TAGTGATCCTGAGTACAACAC	0.473																																																	2	Substitution - Missense(2)	cervix(2)											105.0	101.0	102.0					3																	122439176		2035	4205	6240	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4882G>C	3.37:g.122439176G>C	ENSP00000418194:p.Glu1628Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E1628Q	ENST00000474629.2	37	c.4882	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	17.52	3.409682	0.62399	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.20069	2.1	5.06	4.19	0.49359	Poly(ADP-ribose) polymerase, catalytic domain (2);	0.081866	0.50627	D	0.000108	T	0.55497	0.1924	H	0.94808	3.585	0.48571	D	0.99967	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.989	T	0.66744	-0.5846	10	0.87932	D	0	.	11.2598	0.49076	0.0884:0.0:0.9116:0.0	.	1628;1628	Q460N5-4;Q460N5	.;PAR14_HUMAN	Q	1628;1547;231;624	ENSP00000418194:E1628Q	ENSP00000310633:E231Q	E	+	1	0	PARP14	123921866	1.000000	0.71417	0.133000	0.22050	0.002000	0.02628	6.518000	0.73764	1.371000	0.46172	-0.142000	0.14014	GAG	PARP14	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.473	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122439176	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.981	C
PAK2	5062	genome.wustl.edu	37	3	196532222	196532222	+	Splice_Site	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:196532222G>A	ENST00000327134.3	+	5	758		c.e5-1			NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2						apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in execution phase of apoptosis (GO:2001271)|negative regulation of protein kinase activity (GO:0006469)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of defense response to virus by virus (GO:0050690)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activator activity (GO:0030296)	p.?(2)		breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		TTCATATTCAGAGAAAGATGG	0.294																																																	2	Unknown(2)	cervix(2)											87.0	88.0	88.0					3																	196532222		2202	4294	6496	SO:0001630	splice_region_variant	5062			U24153	CCDS3321.1	3q29	2008-06-17	2008-06-17			ENSG00000180370	2.7.11.1		8591	protein-coding gene	gene with protein product	"""S6/H4 kinase"""	605022	"""p21 (CDKN1A)-activated kinase 2"""			7744004, 7618083	Standard	NM_002577		Approved	PAK65, PAKgamma	uc003fwy.4	Q13177		ENST00000327134.3:c.437-1G>A	3.37:g.196532222G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13154|Q6ISC3	Splice_Site	SNP	-	e4-1	ENST00000327134.3	37	c.437-1	CCDS3321.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932232	0.73442	.	.	ENSG00000180370	ENST00000327134	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5872	0.84730	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PAK2	198016619	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.428000	0.80296	2.339000	0.79563	0.563000	0.77884	.	PAK2	-	-		0.294	PAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAK2	HGNC	protein_coding	OTTHUMT00000340548.1	G	NM_002577	Intron	196532222	+1	no_errors	ENST00000327134	ensembl	human	known	70_37	splice_site	SNP	1.000	A
PCDH17	27253	genome.wustl.edu	37	13	58208026	58208026	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr13:58208026C>T	ENST00000377918.3	+	1	1372	c.1346C>T	c.(1345-1347)tCt>tTt	p.S449F		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	449	Cadherin 4. {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)	p.S449F(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GACGGGGGCTCTCCTCCCCTC	0.592																																					Melanoma(72;952 1291 1619 12849 33676)												1	Substitution - Missense(1)	cervix(1)											56.0	42.0	47.0					13																	58208026		2202	4299	6501	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1346C>T	13.37:g.58208026C>T	ENSP00000367151:p.Ser449Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S449F	ENST00000377918.3	37	c.1346	CCDS31986.1	13	.	.	.	.	.	.	.	.	.	.	C	8.982	0.975524	0.18736	.	.	ENSG00000118946	ENST00000377918	T	0.55588	0.51	5.58	5.58	0.84498	Cadherin (5);Cadherin-like (1);	0.352333	0.30338	N	0.009855	T	0.46541	0.1398	L	0.49513	1.565	0.37934	D	0.932093	B;B	0.27140	0.169;0.095	B;B	0.32211	0.142;0.102	T	0.46693	-0.9173	9	.	.	.	.	9.6709	0.40013	0.1932:0.681:0.1258:0.0	.	449;449	O14917-2;O14917	.;PCD17_HUMAN	F	449	ENSP00000367151:S449F	.	S	+	2	0	PCDH17	57106027	0.265000	0.24102	0.963000	0.40424	0.853000	0.48598	0.756000	0.26419	2.640000	0.89533	0.561000	0.74099	TCT	PCDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.592	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDH17	HGNC	protein_coding	OTTHUMT00000045139.1	C	NM_001040429		58208026	+1	no_errors	ENST00000377918	ensembl	human	known	70_37	missense	SNP	0.624	T
PCF11	51585	genome.wustl.edu	37	11	82880510	82880510	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:82880510C>T	ENST00000298281.4	+	8	3585	c.3133C>T	c.(3133-3135)Cag>Tag	p.Q1045*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	1045	Gly-rich.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|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)	mRNA cleavage factor complex (GO:0005849)|nucleoplasm (GO:0005654)		p.Q1144*(1)|p.Q1045*(1)		cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GCAGCCAGGTCAGCCGTCACT	0.517																																																	2	Substitution - Nonsense(2)	cervix(2)											72.0	71.0	71.0					11																	82880510		2003	4169	6172	SO:0001587	stop_gained	51585			AB020631	CCDS44689.1	11q13	2013-07-02	2013-07-02		ENSG00000165494	ENSG00000165494			30097	protein-coding gene	gene with protein product		608876	"""PCF11, cleavage and polyadenylation factor II subunit, homolog (S. cerevisiae)"", ""PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae)"""			11060040	Standard	NM_015885		Approved	KIAA0824	uc001ozx.4	O94913	OTTHUMG00000167031	ENST00000298281.4:c.3133C>T	11.37:g.82880510C>T	ENSP00000298281:p.Gln1045*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W7|O43671|Q6P0X8	Nonsense_Mutation	SNP	pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD	p.Q1045*	ENST00000298281.4	37	c.3133	CCDS44689.1	11	.	.	.	.	.	.	.	.	.	.	C	44	11.151053	0.99523	.	.	ENSG00000165494	ENST00000298281	.	.	.	5.92	5.92	0.95590	.	0.000000	0.53938	D	0.000058	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-8.2705	20.3811	0.98930	0.0:1.0:0.0:0.0	.	.	.	.	X	1045	.	.	Q	+	1	0	PCF11	82558158	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.397000	0.73239	2.821000	0.97095	0.650000	0.86243	CAG	PCF11	-	NULL		0.517	PCF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCF11	HGNC	protein_coding	OTTHUMT00000392548.2	C	NM_015885		82880510	+1	no_errors	ENST00000298281	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PDPR	55066	genome.wustl.edu	37	16	70190480	70190480	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:70190480G>C	ENST00000288050.4	+	19	3295	c.2338G>C	c.(2338-2340)Gac>Cac	p.D780H	PDPR_ENST00000567046.1_Missense_Mutation_p.D138H|PDPR_ENST00000398122.3_Missense_Mutation_p.D680H|PDPR_ENST00000568530.1_Missense_Mutation_p.D780H|RP11-296I10.3_ENST00000502126.1_RNA|RP11-296I10.3_ENST00000566989.1_RNA|PDPR_ENST00000542659.1_Missense_Mutation_p.D125H|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	780					cellular metabolic process (GO:0044237)|glycine catabolic process (GO:0006546)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|oxidoreductase activity (GO:0016491)	p.D780H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TTCAGACCTAGACCTTTGGCC	0.547																																																	1	Substitution - Missense(1)	cervix(1)											229.0	251.0	244.0					16																	70190480		2083	4204	6287	SO:0001583	missense	55066				CCDS45520.1	16q22.1	2010-08-24			ENSG00000090857	ENSG00000090857			30264	protein-coding gene	gene with protein product						9395502	Standard	NM_017990		Approved	PDP3	uc002eyf.1	Q8NCN5		ENST00000288050.4:c.2338G>C	16.37:g.70190480G>C	ENSP00000288050:p.Asp780His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E298|A8K8Y7|B3KSE1|Q6AI20|Q6AWC9	Missense_Mutation	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_FAD_bind_dom	p.D780H	ENST00000288050.4	37	c.2338	CCDS45520.1	16	.	.	.	.	.	.	.	.	.	.	G	32	5.167367	0.94768	.	.	ENSG00000090857	ENST00000288050;ENST00000398122;ENST00000205055;ENST00000542659	T;T;T	0.78364	-1.17;-1.17;-1.17	6.03	6.03	0.97812	Glycine cleavage T-protein, C-terminal barrel (1);	0.101918	0.64402	D	0.000003	D	0.89726	0.6798	M	0.89904	3.07	0.80722	D	1	D;D	0.63880	0.993;0.985	P;P	0.61940	0.896;0.81	D	0.89304	0.3628	10	0.44086	T	0.13	.	19.5634	0.95382	0.0:0.0:1.0:0.0	.	447;780	Q9NWE6;Q8NCN5	.;PDPR_HUMAN	H	780;680;447;125	ENSP00000288050:D780H;ENSP00000381190:D680H;ENSP00000441690:D125H	ENSP00000205055:D447H	D	+	1	0	PDPR	68747981	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.944000	0.87722	2.868000	0.98415	0.557000	0.71058	GAC	PDPR	-	pfam_GCV_T_C		0.547	PDPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPR	HGNC	protein_coding	OTTHUMT00000434502.1	G	NM_017990		70190480	+1	no_errors	ENST00000288050	ensembl	human	known	70_37	missense	SNP	1.000	C
PDZD2	23037	genome.wustl.edu	37	5	32088583	32088583	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:32088583G>A	ENST00000438447.1	+	20	5417	c.5029G>A	c.(5029-5031)Gaa>Aaa	p.E1677K	PDZD2_ENST00000282493.3_Missense_Mutation_p.E1677K			O15018	PDZD2_HUMAN	PDZ domain containing 2	1677					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.E1677K(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCAGGAGCATGAAACTCATGC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											84.0	84.0	84.0					5																	32088583		2203	4300	6503	SO:0001583	missense	23037			AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.5029G>A	5.37:g.32088583G>A	ENSP00000402033:p.Glu1677Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXD4	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1677K	ENST00000438447.1	37	c.5029	CCDS34137.1	5	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630995	0.46944	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.06687	3.27;3.27	5.22	-0.593	0.11667	.	1.144360	0.06461	N	0.729511	T	0.05731	0.0150	L	0.46157	1.445	0.09310	N	1	B	0.25667	0.131	B	0.22386	0.039	T	0.40403	-0.9565	10	0.05959	T	0.93	.	0.9191	0.01311	0.1947:0.2761:0.3219:0.2073	.	1677	O15018	PDZD2_HUMAN	K	1677;1478;1677	ENSP00000402033:E1677K;ENSP00000282493:E1677K	ENSP00000282493:E1677K	E	+	1	0	PDZD2	32124340	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-0.088000	0.11198	-0.032000	0.13758	-0.140000	0.14226	GAA	PDZD2	-	NULL		0.552	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZD2	HGNC	protein_coding	OTTHUMT00000366608.1	G			32088583	+1	no_errors	ENST00000282493	ensembl	human	known	70_37	missense	SNP	0.000	A
PFKFB1	5207	genome.wustl.edu	37	X	54982618	54982618	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:54982618G>A	ENST00000375006.3	-	7	676	c.606C>T	c.(604-606)gtC>gtT	p.V202V	PFKFB1_ENST00000374992.2_Intron|PFKFB1_ENST00000545676.1_Silent_p.V137V	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	202	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|intracellular signal transduction (GO:0035556)|organ regeneration (GO:0031100)|positive regulation of glucokinase activity (GO:0033133)|response to cAMP (GO:0051591)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|response to insulin (GO:0032868)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase complex (GO:0043540)|cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|fructose-6-phosphate binding (GO:0070095)	p.V202V(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GTTGGTAGTTGACCTCATAGC	0.468																																																	1	Substitution - coding silent(1)	cervix(1)											121.0	100.0	107.0					X																	54982618		2203	4300	6503	SO:0001819	synonymous_variant	5207				CCDS14364.1, CCDS65273.1	Xp11.21	2012-07-13			ENSG00000158571	ENSG00000158571	2.7.1.105, 3.1.3.46		8872	protein-coding gene	gene with protein product		311790		PFRX		9119406	Standard	NM_002625		Approved		uc004dty.2	P16118	OTTHUMG00000021643	ENST00000375006.3:c.606C>T	X.37:g.54982618G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA88|B4DUN5|Q5JXS5|Q99951	Silent	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Zeta_toxin_domain,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.V202	ENST00000375006.3	37	c.606	CCDS14364.1	X																																																																																			PFKFB1	-	pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase		0.468	PFKFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB1	HGNC	protein_coding	OTTHUMT00000056847.1	G			54982618	-1	no_errors	ENST00000375006	ensembl	human	known	70_37	silent	SNP	0.645	A
PHF12	57649	genome.wustl.edu	37	17	27251153	27251153	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:27251153C>A	ENST00000332830.4	-	4	1299	c.489G>T	c.(487-489)agG>agT	p.R163S	PHF12_ENST00000268756.3_Missense_Mutation_p.R163S|RP11-20B24.5_ENST00000580782.1_RNA|PHF12_ENST00000577226.1_Missense_Mutation_p.R163S|RP11-20B24.5_ENST00000582631.1_RNA|PHF12_ENST00000582655.1_5'UTR	NM_001033561.1	NP_001028733.1			PHD finger protein 12									p.R163S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTGTGCCAGGCCTGCTGGCTC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											90.0	72.0	78.0					17																	27251153		2203	4300	6503	SO:0001583	missense	57649			AB040956	CCDS11247.1, CCDS32598.1	17q11.2	2013-01-28			ENSG00000109118	ENSG00000109118		"""Zinc fingers, PHD-type"""	20816	protein-coding gene	gene with protein product						11390640	Standard	XM_005258015		Approved	PF1, KIAA1523	uc002hdg.1	Q96QT6	OTTHUMG00000132676	ENST00000332830.4:c.489G>T	17.37:g.27251153C>A	ENSP00000329933:p.Arg163Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger	p.R163S	ENST00000332830.4	37	c.489	CCDS32598.1	17	.	.	.	.	.	.	.	.	.	.	C	16.56	3.157531	0.57368	.	.	ENSG00000109118	ENST00000332830;ENST00000378879;ENST00000268756	D;D;D	0.95272	-3.56;-3.66;-3.66	5.69	3.72	0.42706	.	0.115428	0.64402	D	0.000017	D	0.94807	0.8323	L	0.53249	1.67	0.58432	D	0.999999	D;D;D;D	0.76494	0.998;0.999;0.999;0.998	D;D;D;D	0.80764	0.987;0.994;0.991;0.987	D	0.91479	0.5203	10	0.21014	T	0.42	-19.6142	6.8321	0.23915	0.0:0.6993:0.1449:0.1559	.	145;163;163;163	B4DFE2;Q96QT6-2;Q2TAK2;Q96QT6	.;.;.;PHF12_HUMAN	S	163	ENSP00000329933:R163S;ENSP00000368157:R163S;ENSP00000268756:R163S	ENSP00000268756:R163S	R	-	3	2	PHF12	24275279	0.862000	0.29867	1.000000	0.80357	0.991000	0.79684	-0.067000	0.11579	0.768000	0.33290	0.655000	0.94253	AGG	PHF12	-	NULL		0.562	PHF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF12	HGNC	protein_coding	OTTHUMT00000255941.1	C	NM_020889		27251153	-1	no_errors	ENST00000332830	ensembl	human	known	70_37	missense	SNP	1.000	A
GSAP	54103	genome.wustl.edu	37	7	77010632	77010632	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:77010632C>A	ENST00000257626.7	-	8	644	c.566G>T	c.(565-567)gGa>gTa	p.G189V		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	189					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)	p.G189V(1)									CACTCTATTTCCATCTTCTTG	0.284																																																	1	Substitution - Missense(1)	cervix(1)											80.0	75.0	77.0					7																	77010632		1805	4070	5875	SO:0001583	missense	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.566G>T	7.37:g.77010632C>A	ENSP00000257626:p.Gly189Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Missense_Mutation	SNP	NULL	p.G189V	ENST00000257626.7	37	c.566	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	C	16.55	3.154331	0.57259	.	.	ENSG00000186088	ENST00000257626	T	0.21543	2.0	6.05	2.87	0.33458	.	0.658522	0.12515	U	0.462130	T	0.37865	0.1019	M	0.61703	1.905	0.80722	D	1	D	0.67145	0.996	D	0.65010	0.931	T	0.07888	-1.0749	10	0.51188	T	0.08	.	8.1534	0.31154	0.0:0.6623:0.0:0.3377	.	189	A4D1B5	GSAP_HUMAN	V	189	ENSP00000257626:G189V	ENSP00000257626:G189V	G	-	2	0	PION	76848568	0.991000	0.36638	0.996000	0.52242	0.965000	0.64279	0.589000	0.23939	0.897000	0.36392	0.650000	0.86243	GGA	PION	-	NULL		0.284	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PION	HGNC	protein_coding	OTTHUMT00000318672.2	C	NM_017439		77010632	-1	no_errors	ENST00000257626	ensembl	human	known	70_37	missense	SNP	0.944	A
PIWIL1	9271	genome.wustl.edu	37	12	130827568	130827568	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:130827568C>T	ENST00000245255.3	+	3	384	c.112C>T	c.(112-114)Cag>Tag	p.Q38*		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	38					gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|mRNA cap binding complex (GO:0005845)|P granule (GO:0043186)|polysome (GO:0005844)	mRNA binding (GO:0003729)|piRNA binding (GO:0034584)|single-stranded RNA binding (GO:0003727)	p.Q38*(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCCTAGGCCTCAGCCGCCACC	0.478																																																	1	Substitution - Nonsense(1)	cervix(1)											62.0	61.0	61.0					12																	130827568		2203	4300	6503	SO:0001587	stop_gained	9271			AF104260	CCDS9268.1	12q24.33	2014-01-21	2013-02-15		ENSG00000125207	ENSG00000125207		"""Argonaute/PIWI family"""	9007	protein-coding gene	gene with protein product		605571	"""piwi (Drosophila)-like 1"", ""piwi-like 1 (Drosophila)"""			9851978, 12906857	Standard	NM_004764		Approved	PIWI, HIWI, CT80.1	uc001uik.3	Q96J94	OTTHUMG00000168382	ENST00000245255.3:c.112C>T	12.37:g.130827568C>T	ENSP00000245255:p.Gln38*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4F266|O95404|Q8NA60|Q8TBY5|Q96JD5	Nonsense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.Q38*	ENST00000245255.3	37	c.112	CCDS9268.1	12	.	.	.	.	.	.	.	.	.	.	C	16.84	3.233412	0.58886	.	.	ENSG00000125207	ENST00000245255;ENST00000546060;ENST00000539400;ENST00000539995;ENST00000535956;ENST00000542723	.	.	.	5.03	5.03	0.67393	.	0.696409	0.14488	N	0.316547	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-4.9236	17.2798	0.87125	0.0:1.0:0.0:0.0	.	.	.	.	X	38	.	ENSP00000245255:Q38X	Q	+	1	0	PIWIL1	129393521	0.986000	0.35501	0.294000	0.24946	0.008000	0.06430	3.025000	0.49681	2.480000	0.83734	0.591000	0.81541	CAG	PIWIL1	-	pfam_GAGE		0.478	PIWIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIWIL1	HGNC	protein_coding	OTTHUMT00000399510.1	C			130827568	+1	no_errors	ENST00000245255	ensembl	human	known	70_37	nonsense	SNP	0.817	T
PKHD1L1	93035	genome.wustl.edu	37	8	110393634	110393634	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:110393634G>A	ENST00000378402.5	+	3	303	c.199G>A	c.(199-201)Gat>Aat	p.D67N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	67	IPT/TIG 1.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.D67N(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTATGGAGTTGATAACGCTGA	0.328										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	cervix(1)											60.0	58.0	59.0					8																	110393634		1821	4072	5893	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.199G>A	8.37:g.110393634G>A	ENSP00000367655:p.Asp67Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q567P2|Q9UF27	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.D67N	ENST00000378402.5	37	c.199	CCDS47911.1	8	.	.	.	.	.	.	.	.	.	.	G	11.11	1.543274	0.27563	.	.	ENSG00000205038	ENST00000378402	T	0.76448	-1.02	6.16	5.26	0.73747	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.188029	0.46145	D	0.000301	T	0.63462	0.2513	N	0.17674	0.51	0.24537	N	0.994086	B	0.13594	0.008	B	0.20955	0.032	T	0.36915	-0.9728	10	0.10111	T	0.7	.	15.5091	0.75766	0.0:0.1378:0.8622:0.0	.	67	Q86WI1	PKHL1_HUMAN	N	67	ENSP00000367655:D67N	ENSP00000367655:D67N	D	+	1	0	PKHD1L1	110462810	0.543000	0.26434	0.996000	0.52242	0.923000	0.55619	1.817000	0.39002	2.937000	0.99478	0.650000	0.86243	GAT	PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.328	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110393634	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	missense	SNP	1.000	A
PLBD1	79887	genome.wustl.edu	37	12	14659187	14659187	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:14659187G>T	ENST00000240617.5	-	10	2040	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	463					glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.P463H(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						TCTACTGTAAGGATCCTTCTT	0.448																																																	1	Substitution - Missense(1)	cervix(1)											99.0	89.0	92.0					12																	14659187		2203	4300	6503	SO:0001583	missense	79887			BC000909	CCDS31751.1	12p13.1	2013-10-11			ENSG00000121316	ENSG00000121316			26215	protein-coding gene	gene with protein product	"""PLB homolog 1 (Dictyostelium)"""					15193148, 19019078	Standard	NM_024829		Approved	FLJ22662	uc001rcc.1	Q6P4A8	OTTHUMG00000168821	ENST00000240617.5:c.1388C>A	12.37:g.14659187G>T	ENSP00000240617:p.Pro463His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4E9|Q9BVV3|Q9H625	Missense_Mutation	SNP	pfam_PLipase_B-like	p.P463H	ENST00000240617.5	37	c.1388	CCDS31751.1	12	.	.	.	.	.	.	.	.	.	.	G	18.09	3.545484	0.65198	.	.	ENSG00000121316	ENST00000240617	T	0.18016	2.24	5.91	4.04	0.47022	.	0.052924	0.85682	D	0.000000	T	0.52125	0.1715	H	0.96080	3.765	0.53005	D	0.999966	D	0.89917	1.0	D	0.77557	0.99	T	0.64960	-0.6284	10	0.87932	D	0	-5.3702	10.603	0.45377	0.0701:0.1307:0.7993:0.0	.	463	Q6P4A8	PLBL1_HUMAN	H	463	ENSP00000240617:P463H	ENSP00000240617:P463H	P	-	2	0	PLBD1	14550454	0.998000	0.40836	0.554000	0.28268	0.580000	0.36256	2.672000	0.46850	1.466000	0.48025	0.655000	0.94253	CCT	PLBD1	-	pfam_PLipase_B-like		0.448	PLBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLBD1	HGNC	protein_coding	OTTHUMT00000401203.1	G	NM_024829		14659187	-1	no_errors	ENST00000240617	ensembl	human	known	70_37	missense	SNP	0.997	T
PLCL2	23228	genome.wustl.edu	37	3	17051428	17051428	+	Missense_Mutation	SNP	G	G	A	rs77416948		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:17051428G>A	ENST00000418129.2	+	2	677	c.212G>A	c.(211-213)gGa>gAa	p.G71E	PLCL2_ENST00000460467.1_3'UTR|PLCL2_ENST00000432376.1_Missense_Mutation_p.G71E|PLCL2_ENST00000396755.2_Missense_Mutation_p.G71E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	197					B cell proliferation involved in immune response (GO:0002322)|B-1a B cell differentiation (GO:0002337)|gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|negative regulation of B cell receptor signaling pathway (GO:0050859)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|GABA receptor binding (GO:0050811)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)	p.G71E(2)		breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GTGAGAACAGGAAAAAACACA	0.418																																																	2	Substitution - Missense(2)	cervix(1)|skin(1)											107.0	105.0	105.0					3																	17051428		2203	4300	6503	SO:0001583	missense	23228			AB029015	CCDS33713.1, CCDS74911.1	3p25.3-p25.1	2008-03-18	2002-02-18	2002-02-22	ENSG00000154822	ENSG00000154822			9064	protein-coding gene	gene with protein product		614276	"""phospholipase C, epsilon 2"""	PLCE2		10470851	Standard	NM_015184		Approved	KIAA1092	uc011awd.2	Q9UPR0	OTTHUMG00000155467	ENST00000418129.2:c.212G>A	3.37:g.17051428G>A	ENSP00000409637:p.Gly71Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5V4|Q8N498|Q9H8L0|Q9UFP9	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G71E	ENST00000418129.2	37	c.212	CCDS33713.1	3	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811029	0.70797	.	.	ENSG00000154822	ENST00000418129;ENST00000285094;ENST00000396755;ENST00000432376	T;T;T	0.70516	-0.49;-0.49;-0.49	5.24	5.24	0.73138	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.85461	0.5702	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.87404	0.2371	9	0.87932	D	0	.	18.8129	0.92065	0.0:0.0:1.0:0.0	.	197;71	Q9UPR0;Q9UPR0-2	PLCL2_HUMAN;.	E	71;198;71;71	ENSP00000409637:G71E;ENSP00000379979:G71E;ENSP00000412836:G71E	ENSP00000285094:G198E	G	+	2	0	PLCL2	17026432	1.000000	0.71417	0.994000	0.49952	0.983000	0.72400	9.869000	0.99810	2.460000	0.83146	0.491000	0.48974	GGA	PLCL2	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.418	PLCL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL2	HGNC	protein_coding	OTTHUMT00000340250.3	G			17051428	+1	no_errors	ENST00000418129	ensembl	human	known	70_37	missense	SNP	1.000	A
PLP1	5354	genome.wustl.edu	37	X	103042605	103042605	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:103042605G>A	ENST00000303958.2	+	4	599				PLP1_ENST00000361621.2_Intron|PLP1_ENST00000418604.1_Intron|PLP1_ENST00000466486.1_3'UTR	NM_000533.3	NP_000524.3	P60201	MYPR_HUMAN	proteolipid protein 1						astrocyte development (GO:0014002)|axon development (GO:0061564)|axon ensheathment (GO:0008366)|cell death (GO:0008219)|cell maturation (GO:0048469)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|integrin-mediated signaling pathway (GO:0007229)|long-chain fatty acid biosynthetic process (GO:0042759)|positive regulation of gene expression (GO:0010628)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)	structural constituent of myelin sheath (GO:0019911)|structural molecule activity (GO:0005198)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AATTTCATTTGAAGGAGAGCC	0.507																																																	0																																										SO:0001627	intron_variant	5354			M27110	CCDS14513.1, CCDS14514.1	Xq22	2013-05-14	2008-07-28		ENSG00000123560	ENSG00000123560			9086	protein-coding gene	gene with protein product	"""Pelizaeus-Merzbacher disease"""	300401	"""spastic paraplegia 2, uncomplicated"""	SPG2, PLP			Standard	NM_001128834		Approved	GPM6C	uc004elk.3	P60201	OTTHUMG00000022111	ENST00000303958.2:c.454-122G>A	X.37:g.103042605G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P04400|P06905|Q502Y1|Q6FHZ6	RNA	SNP	-	NULL	ENST00000303958.2	37	NULL	CCDS14513.1	X																																																																																			PLP1	-	-		0.507	PLP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLP1	HGNC	protein_coding	OTTHUMT00000057743.2	G			103042605	+1	no_errors	ENST00000466486	ensembl	human	known	70_37	rna	SNP	0.840	A
POU3F1	5453	genome.wustl.edu	37	1	38511656	38511656	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:38511656C>T	ENST00000373012.2	-	1	794	c.760G>A	c.(760-762)Gac>Aac	p.D254N	RP5-884C9.2_ENST00000432922.1_lincRNA	NM_002699.3	NP_002690.3	Q03052	PO3F1_HUMAN	POU class 3 homeobox 1	254	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				axon ensheathment (GO:0008366)|forebrain development (GO:0030900)|keratinocyte differentiation (GO:0030216)|myelination in peripheral nervous system (GO:0022011)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D254N(1)		cervix(1)|lung(1)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGCTCCAGGTCGTCCGAGCTG	0.726																																																	1	Substitution - Missense(1)	cervix(1)											33.0	31.0	31.0					1																	38511656		2203	4300	6503	SO:0001583	missense	5453			L26494	CCDS30679.1	1p34.3	2011-06-20	2007-07-13		ENSG00000185668	ENSG00000185668		"""Homeoboxes / POU class"""	9214	protein-coding gene	gene with protein product		602479	"""POU domain class 3, transcription factor 1"""	OTF6		8451175	Standard	NM_002699		Approved	OCT6, SCIP	uc001ccp.1	Q03052	OTTHUMG00000000485	ENST00000373012.2:c.760G>A	1.37:g.38511656C>T	ENSP00000362103:p.Asp254Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TAG2	Missense_Mutation	SNP	pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU	p.D254N	ENST00000373012.2	37	c.760	CCDS30679.1	1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.034847	0.75617	.	.	ENSG00000185668	ENST00000373012	D	0.83992	-1.79	3.34	2.42	0.29668	POU-specific (3);Lambda repressor-like, DNA-binding (2);	0.000000	0.85682	U	0.000000	D	0.84506	0.5487	L	0.39467	1.215	0.52099	D	0.999945	D	0.76494	0.999	D	0.70227	0.968	D	0.83545	0.0098	10	0.87932	D	0	.	8.3759	0.32442	0.0:0.8787:0.0:0.1213	.	254	Q03052	PO3F1_HUMAN	N	254	ENSP00000362103:D254N	ENSP00000362103:D254N	D	-	1	0	POU3F1	38284243	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.481000	0.66826	0.752000	0.32923	0.400000	0.26472	GAC	POU3F1	-	pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific		0.726	POU3F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU3F1	HGNC	protein_coding	OTTHUMT00000001213.1	C	NM_002699		38511656	-1	no_errors	ENST00000373012	ensembl	human	known	70_37	missense	SNP	1.000	T
PPCDC	60490	genome.wustl.edu	37	15	75335866	75335866	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:75335866G>A	ENST00000342932.3	+	3	364	c.220G>A	c.(220-222)Gat>Aat	p.D74N	PPCDC_ENST00000564923.1_Intron|PPCDC_ENST00000567336.1_Intron|PPCDC_ENST00000568649.1_Missense_Mutation_p.D74N|PPCDC_ENST00000563393.1_De_novo_Start_OutOfFrame	NM_021823.3	NP_068595.3	Q96CD2	COAC_HUMAN	phosphopantothenoylcysteine decarboxylase	74					coenzyme A biosynthetic process (GO:0015937)|coenzyme biosynthetic process (GO:0009108)|pantothenate metabolic process (GO:0015939)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	phosphopantothenoylcysteine decarboxylase activity (GO:0004633)	p.D74N(1)		breast(1)|cervix(1)	2						CAGCGACGCTGATGAATGGGA	0.557											OREG0023296	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											77.0	60.0	66.0					15																	75335866		2197	4295	6492	SO:0001583	missense	60490			AK027491	CCDS10275.1, CCDS73761.1, CCDS73759.1, CCDS73760.1	15q24.2	2005-08-16			ENSG00000138621	ENSG00000138621	4.1.1.36		28107	protein-coding gene	gene with protein product		609854				12975309, 11923312	Standard	XM_005254579		Approved	MDS018, FLJ14585	uc002azo.3	Q96CD2	OTTHUMG00000142824	ENST00000342932.3:c.220G>A	15.37:g.75335866G>A	ENSP00000343190:p.Asp74Asn	Somatic	1159	WXS	Illumina HiSeq	Phase_IV	Q96SX0|Q9HC17	Missense_Mutation	SNP	pfam_Flavoprotein,superfamily_Flavoprotein	p.D74N	ENST00000342932.3	37	c.220	CCDS10275.1	15	.	.	.	.	.	.	.	.	.	.	G	19.70	3.877387	0.72294	.	.	ENSG00000138621	ENST00000342932	T	0.44881	0.91	5.54	4.63	0.57726	Flavoprotein (3);	0.000000	0.85682	D	0.000000	T	0.53916	0.1826	M	0.74258	2.255	0.80722	D	1	B	0.27910	0.193	B	0.42030	0.373	T	0.56565	-0.7958	10	0.51188	T	0.08	-15.3356	13.7241	0.62748	0.0738:0.0:0.9262:0.0	.	74	Q96CD2	COAC_HUMAN	N	74	ENSP00000343190:D74N	ENSP00000343190:D74N	D	+	1	0	PPCDC	73122919	1.000000	0.71417	0.996000	0.52242	0.647000	0.38526	5.734000	0.68580	1.356000	0.45884	-0.215000	0.12644	GAT	PPCDC	-	pfam_Flavoprotein,superfamily_Flavoprotein		0.557	PPCDC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPCDC	HGNC	protein_coding	OTTHUMT00000286416.1	G	NM_021823		75335866	+1	no_errors	ENST00000342932	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R12B	4660	genome.wustl.edu	37	1	202418211	202418211	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:202418211C>T	ENST00000608999.1	+	13	1915	c.1762C>T	c.(1762-1764)Ctt>Ttt	p.L588F	PPP1R12B_ENST00000336894.4_Missense_Mutation_p.L588F	NM_001197131.1|NM_002481.3	NP_001184060.1|NP_002472.2	O60237	MYPT2_HUMAN	protein phosphatase 1, regulatory subunit 12B	588					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|positive regulation of catalytic activity (GO:0043085)|regulation of muscle contraction (GO:0006937)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	enzyme activator activity (GO:0008047)	p.L588F(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CAATCGCCCTCTTCCTAGCAC	0.512																																																	1	Substitution - Missense(1)	cervix(1)											124.0	104.0	111.0					1																	202418211		2203	4300	6503	SO:0001583	missense	4660			AB003062	CCDS1426.1, CCDS44294.1, CCDS44295.1, CCDS53458.1, CCDS53459.1, CCDS73005.1	1q32.1	2013-01-10	2011-10-04	2001-08-10	ENSG00000077157	ENSG00000077157		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7619	protein-coding gene	gene with protein product	"""myosin phosphatase regulatory subunit"", ""myosin phosphatase, target subunit 2"""	603768	"""protein phosphatase 1, regulatory (inhibitor) subunit 12B"""	MYPT2		9570949	Standard	NM_002481		Approved	MGC87886, MGC131980, PP1bp55	uc001gya.2	O60237	OTTHUMG00000041393	ENST00000608999.1:c.1762C>T	1.37:g.202418211C>T	ENSP00000476755:p.Leu588Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYF5|B7ZMN6|Q2TAI8|Q5T506|Q5VUK2|Q8N179|Q9HCB7|Q9HCB8	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_12A/B/C_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L588F	ENST00000608999.1	37	c.1762	CCDS1426.1	1	.	.	.	.	.	.	.	.	.	.	C	1.658	-0.512105	0.04200	.	.	ENSG00000077157	ENST00000406302;ENST00000336894	T;T	0.41400	1.0;1.02	5.51	2.56	0.30785	.	0.868455	0.10084	N	0.718028	T	0.21674	0.0522	N	0.08118	0	0.18873	N	0.999989	B;B	0.32203	0.13;0.36	B;B	0.27608	0.036;0.081	T	0.15150	-1.0447	10	0.56958	D	0.05	.	7.121	0.25444	0.0:0.4873:0.3515:0.1612	.	588;588	O60237;F8W8M3	MYPT2_HUMAN;.	F	588	ENSP00000384496:L588F;ENSP00000337897:L588F	ENSP00000337897:L588F	L	+	1	0	PPP1R12B	200684834	0.130000	0.22417	0.381000	0.26106	0.635000	0.38103	0.371000	0.20450	0.353000	0.24079	-0.140000	0.14226	CTT	PPP1R12B	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.512	PPP1R12B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPP1R12B	HGNC	protein_coding	OTTHUMT00000099166.3	C	NM_032105		202418211	+1	no_errors	ENST00000336894	ensembl	human	known	70_37	missense	SNP	0.181	T
PPP1R3A	5506	genome.wustl.edu	37	7	113558804	113558804	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:113558804C>T	ENST00000284601.3	-	1	316	c.248G>A	c.(247-249)tGg>tAg	p.W83*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	83					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.W83*(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CGGTAATTCCCAGCAATCAAA	0.398																																																	1	Substitution - Nonsense(1)	cervix(1)											89.0	85.0	87.0					7																	113558804		2203	4300	6503	SO:0001587	stop_gained	5506			AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.248G>A	7.37:g.113558804C>T	ENSP00000284601:p.Trp83*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Nonsense_Mutation	SNP	pfam_CBM_21,pfscan_CBM_21	p.W83*	ENST00000284601.3	37	c.248	CCDS5759.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.460507	0.97585	.	.	ENSG00000154415	ENST00000284601	.	.	.	6.17	6.17	0.99709	.	0.000000	0.51477	D	0.000088	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.1246	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	83	.	ENSP00000284601:W83X	W	-	2	0	PPP1R3A	113346040	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.189000	0.77747	2.941000	0.99782	0.655000	0.94253	TGG	PPP1R3A	-	NULL		0.398	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R3A	HGNC	protein_coding	OTTHUMT00000346724.1	C	NM_002711		113558804	-1	no_errors	ENST00000284601	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PRAMEF12	390999	genome.wustl.edu	37	1	12835064	12835064	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:12835064G>A	ENST00000357726.4	+	1	81	c.54G>A	c.(52-54)ctG>ctA	p.L18L		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	18					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)			p.L18L(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGTCTGCTGAGAGACCGGG	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											51.0	60.0	57.0					1																	12835064		2202	4299	6501	SO:0001819	synonymous_variant	390999				CCDS41254.1	1p36.21	2013-01-17			ENSG00000116726	ENSG00000116726		"""-"""	22125	protein-coding gene	gene with protein product							Standard	NM_001080830		Approved	OTTHUMG00000001927	uc001aui.3	O95522	OTTHUMG00000001927	ENST00000357726.4:c.54G>A	1.37:g.12835064G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L18	ENST00000357726.4	37	c.54	CCDS41254.1	1																																																																																			PRAMEF12	-	NULL		0.567	PRAMEF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF12	HGNC	protein_coding	OTTHUMT00000005457.1	G	XM_372760		12835064	+1	no_errors	ENST00000357726	ensembl	human	known	70_37	silent	SNP	0.019	A
PRKCB	5579	genome.wustl.edu	37	16	24166139	24166139	+	Silent	SNP	G	G	A	rs141827066	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:24166139G>A	ENST00000321728.7	+	10	1375	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_ENST00000303531.7_Silent_p.P400P	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	400	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)	p.P400P(3)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567																																																	3	Substitution - coding silent(3)	cervix(2)|central_nervous_system(1)											116.0	86.0	96.0					16																	24166139		2197	4300	6497	SO:0001819	synonymous_variant	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1200G>A	16.37:g.24166139G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_C2_dom	p.P400	ENST00000321728.7	37	c.1200	CCDS10618.1	16																																																																																			PRKCB	-	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_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom		0.567	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	G	NM_212535		24166139	+1	no_errors	ENST00000303531	ensembl	human	known	70_37	silent	SNP	0.055	A
PRX	57716	genome.wustl.edu	37	19	40902682	40902682	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:40902682G>A	ENST00000324001.7	-	7	1847	c.1577C>T	c.(1576-1578)tCg>tTg	p.S526L	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	526	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.S526L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTTCATCTCCGACACTTTCAG	0.567																																																	1	Substitution - Missense(1)	cervix(1)											83.0	96.0	92.0					19																	40902682		2202	4300	6502	SO:0001583	missense	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.1577C>T	19.37:g.40902682G>A	ENSP00000326018:p.Ser526Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXL9|Q9HCF2	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S526L	ENST00000324001.7	37	c.1577	CCDS33028.1	19	.	.	.	.	.	.	.	.	.	.	G	11.64	1.698995	0.30142	.	.	ENSG00000105227	ENST00000324001;ENST00000341562	T	0.02103	4.45	3.9	3.9	0.45041	.	0.465981	0.18231	N	0.147576	T	0.01800	0.0057	N	0.22421	0.69	0.26274	N	0.978372	P	0.39624	0.681	B	0.30495	0.116	T	0.52472	-0.8571	10	0.33940	T	0.23	.	13.4146	0.60961	0.0:0.0:1.0:0.0	.	526	Q9BXM0	PRAX_HUMAN	L	526	ENSP00000326018:S526L	ENSP00000326018:S526L	S	-	2	0	PRX	45594522	0.000000	0.05858	0.005000	0.12908	0.090000	0.18270	0.389000	0.20751	2.011000	0.59026	0.561000	0.74099	TCG	PRX	-	NULL		0.567	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	G	NM_020956		40902682	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	missense	SNP	0.007	A
PRMT1	3276	genome.wustl.edu	37	19	50188017	50188017	+	Missense_Mutation	SNP	G	G	A	rs544334510		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:50188017G>A	ENST00000391851.4	+	6	637	c.508G>A	c.(508-510)Gat>Aat	p.D170N	PRMT1_ENST00000532489.1_Missense_Mutation_p.D142N|PRMT1_ENST00000454376.2_Missense_Mutation_p.D188N|MIR5088_ENST00000581740.1_RNA	NM_198318.4	NP_938074.2	Q99873	ANM1_HUMAN	protein arginine methyltransferase 1	178	SAM-dependent MTase PRMT-type. {ECO:0000255|PROSITE-ProRule:PRU01015}.			DIIISEWMGYCLFYESMLNTVLYARDKWL -> ASSSASGW ATASSTSPCSTPCSMPGTSV (in Ref. 2; BAA11029). {ECO:0000305}.	cell surface receptor signaling pathway (GO:0007166)|histone H4-R3 methylation (GO:0043985)|histone methylation (GO:0016571)|negative regulation of megakaryocyte differentiation (GO:0045653)|neuron projection development (GO:0031175)|peptidyl-arginine methylation (GO:0018216)|peptidyl-arginine methylation, to asymmetrical-dimethyl arginine (GO:0019919)|protein methylation (GO:0006479)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	histone methyltransferase activity (GO:0042054)|histone methyltransferase activity (H4-R3 specific) (GO:0044020)|identical protein binding (GO:0042802)|methyltransferase activity (GO:0008168)|N-methyltransferase activity (GO:0008170)|poly(A) RNA binding (GO:0044822)|protein-arginine omega-N asymmetric methyltransferase activity (GO:0035242)	p.D164N(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GTAGGCGCCCGATGGCCTCAT	0.647											OREG0025627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	cervix(1)											19.0	16.0	17.0					19																	50188017		2133	4205	6338	SO:0001583	missense	3276			D66904	CCDS42592.1, CCDS46145.1, CCDS74425.1	19q13	2014-06-12	2006-02-16	2006-02-16	ENSG00000126457	ENSG00000126457	2.1.1.125	"""Protein arginine methyltransferases"""	5187	protein-coding gene	gene with protein product		602950	"""HMT1 (hnRNP methyltransferase, S. cerevisiae)-like 2"", ""HMT1 hnRNP methyltransferase-like 2 (S. cerevisiae)"""	HRMT1L2		9545638	Standard	NM_001207042		Approved	HCP1, ANM1	uc010enf.2	Q99873	OTTHUMG00000167568	ENST00000391851.4:c.508G>A	19.37:g.50188017G>A	ENSP00000375724:p.Asp170Asn	Somatic	967	WXS	Illumina HiSeq	Phase_IV	B4E3C3|G5E9B6|Q15529|Q2VP93|Q6LEU5|Q8WUW5|Q99872|Q99874|Q9NZ04|Q9NZ05|Q9NZ06	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_Small_mtfrase_dom,pfam_tRNA_Trfase_Trm5/Tyw2	p.D188N	ENST00000391851.4	37	c.562	CCDS42592.1	19	.	.	.	.	.	.	.	.	.	.	G	14.93	2.683395	0.47991	.	.	ENSG00000126457	ENST00000529284;ENST00000532489;ENST00000527382;ENST00000534465;ENST00000391851;ENST00000449059;ENST00000454376;ENST00000526224	T;T;T;T;T;T;T	0.22743	1.94;1.94;1.94;1.94;1.94;1.94;1.94	4.53	3.48	0.39840	.	0.000000	0.85682	D	0.000000	T	0.18800	0.0451	L	0.42008	1.315	0.47994	D	0.999569	B;B;B;B	0.10296	0.003;0.001;0.003;0.003	B;B;B;B	0.12837	0.008;0.003;0.003;0.003	T	0.03875	-1.0996	10	0.46703	T	0.11	-5.6881	11.5934	0.50959	0.0:0.0:0.8203:0.1797	.	178;142;170;164	Q99873;E9PKG1;G5E9B6;Q99873-2	ANM1_HUMAN;.;.;.	N	142;142;142;142;170;164;188;142	ENSP00000432349:D142N;ENSP00000433556:D142N;ENSP00000432538:D142N;ENSP00000431957:D142N;ENSP00000375724:D170N;ENSP00000406162:D188N;ENSP00000432788:D142N	ENSP00000375724:D170N	D	+	1	0	PRMT1	54879829	1.000000	0.71417	0.200000	0.23457	0.238000	0.25445	9.334000	0.96470	1.116000	0.41820	-0.282000	0.10007	GAT	PRMT1	-	pfam_Arg_MeTrfase,pfam_Methyltransf_11		0.647	PRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT1	HGNC	protein_coding	OTTHUMT00000395065.1	G	NM_001536		50188017	+1	no_errors	ENST00000454376	ensembl	human	known	70_37	missense	SNP	0.677	A
PSPH	5723	genome.wustl.edu	37	7	56082739	56082739	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:56082739C>T	ENST00000395471.3	-	7	1352	c.547G>A	c.(547-549)Gat>Aat	p.D183N	PSPH_ENST00000459834.1_5'UTR|PSPH_ENST00000275605.3_Missense_Mutation_p.D183N			P78330	SERB_HUMAN	phosphoserine phosphatase	183					cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|dephosphorylation (GO:0016311)|L-serine biosynthetic process (GO:0006564)|L-serine metabolic process (GO:0006563)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)	calcium ion binding (GO:0005509)|magnesium ion binding (GO:0000287)|phosphoserine phosphatase activity (GO:0004647)|protein homodimerization activity (GO:0042803)	p.D183N(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GCTTCCATATCTGTGGCACCA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											68.0	72.0	70.0					7																	56082739		2203	4300	6503	SO:0001583	missense	5723			Y10275	CCDS5522.1	7p11.2	2012-10-02			ENSG00000146733	ENSG00000146733	3.1.3.3		9577	protein-coding gene	gene with protein product		172480		PSP		6297854, 9188776	Standard	NM_004577		Approved		uc003trh.3	P78330	OTTHUMG00000023441	ENST00000395471.3:c.547G>A	7.37:g.56082739C>T	ENSP00000378854:p.Asp183Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR5|Q7Z3S5	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like	p.D183N	ENST00000395471.3	37	c.547	CCDS5522.1	7	.	.	.	.	.	.	.	.	.	.	C	27.7	4.854521	0.91355	.	.	ENSG00000146733	ENST00000275605;ENST00000395471;ENST00000421626	D;D;D	0.99667	-6.34;-6.34;-6.34	5.69	5.69	0.88448	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (2);	0.000000	0.85682	D	0.000000	D	0.99854	0.9932	H	0.99475	4.585	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.72982	0.979;0.979	D	0.96535	0.9396	10	0.87932	D	0	-26.4907	18.7908	0.91973	0.0:1.0:0.0:0.0	.	183;183	Q53EY1;P78330	.;SERB_HUMAN	N	183	ENSP00000275605:D183N;ENSP00000378854:D183N;ENSP00000398653:D183N	ENSP00000275605:D183N	D	-	1	0	PSPH	56050233	1.000000	0.71417	0.998000	0.56505	0.588000	0.36517	7.598000	0.82745	2.678000	0.91216	0.591000	0.81541	GAT	PSPH	-	pfam_Dehalogen-like_hydro,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like		0.303	PSPH-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PSPH	HGNC	protein_coding	OTTHUMT00000343304.1	C	NM_004577		56082739	-1	no_errors	ENST00000275605	ensembl	human	known	70_37	missense	SNP	1.000	T
PTCH2	8643	genome.wustl.edu	37	1	45293815	45293815	+	Silent	SNP	G	G	A	rs368278021		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:45293815G>A	ENST00000372192.3	-	14	1888	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	PTCH2_ENST00000447098.2_Silent_p.D586D	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	586					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)	p.D586D(1)		NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GTACTGTCCCGTCCCCCAGCT	0.587									Basal Cell Nevus syndrome				G|||	1	0.000199681	0.0008	0.0	5008	,	,		20803	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	cervix(1)						G	,	0,4406		0,0,2203	69.0	74.0	72.0		1758,1758	-10.1	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	PTCH2	NM_001166292.1,NM_003738.4	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	586/1147,586/1204	45293815	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.1758C>T	1.37:g.45293815G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.D586	ENST00000372192.3	37	c.1758	CCDS516.1	1																																																																																			PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.587	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45293815	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	silent	SNP	0.000	A
PTPN13	5783	genome.wustl.edu	37	4	87643569	87643569	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:87643569G>C	ENST00000411767.2	+	10	1653	c.1590G>C	c.(1588-1590)atG>atC	p.M530I	PTPN13_ENST00000511467.1_Missense_Mutation_p.M530I|PTPN13_ENST00000427191.2_Missense_Mutation_p.M530I|PTPN13_ENST00000316707.6_Missense_Mutation_p.M530I|PTPN13_ENST00000436978.1_Missense_Mutation_p.M530I			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	530					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)	p.M530I(1)		NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAACAGCCATGACTCAAAGAA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											110.0	106.0	107.0					4																	87643569		1898	4122	6020	SO:0001583	missense	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.1590G>C	4.37:g.87643569G>C	ENSP00000407249:p.Met530Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Missense_Mutation	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.M530I	ENST00000411767.2	37	c.1590	CCDS47094.1	4	.	.	.	.	.	.	.	.	.	.	G	13.73	2.324386	0.41197	.	.	ENSG00000163629	ENST00000427191;ENST00000436978;ENST00000316707;ENST00000411767;ENST00000511467;ENST00000357349	T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51	4.92	4.92	0.64577	.	0.000000	0.56097	D	0.000029	T	0.30324	0.0761	M	0.63428	1.95	0.43569	D	0.995892	B;B;B;B	0.31077	0.04;0.307;0.126;0.2	B;B;B;B	0.25405	0.06;0.047;0.021;0.047	T	0.07908	-1.0748	10	0.38643	T	0.18	.	13.4538	0.61187	0.0:0.0:0.8433:0.1567	.	530;530;530;530	Q12923-2;Q12923-3;Q12923;Q12923-4	.;.;PTN13_HUMAN;.	I	530;530;530;530;530;498	ENSP00000408368:M530I;ENSP00000394794:M530I;ENSP00000322675:M530I;ENSP00000407249:M530I;ENSP00000426626:M530I	ENSP00000322675:M530I	M	+	3	0	PTPN13	87862593	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	4.036000	0.57304	2.444000	0.82710	0.655000	0.94253	ATG	PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.438	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87643569	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPRK	5796	genome.wustl.edu	37	6	128643434	128643434	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:128643434G>C	ENST00000368215.3	-	3	244	c.245C>G	c.(244-246)tCt>tGt	p.S82C	PTPRK_ENST00000525459.1_Missense_Mutation_p.S82C|PTPRK_ENST00000368227.3_Missense_Mutation_p.S82C|PTPRK_ENST00000368207.3_Missense_Mutation_p.S82C|PTPRK_ENST00000368210.3_Missense_Mutation_p.S82C|PTPRK_ENST00000368213.5_Missense_Mutation_p.S82C|PTPRK_ENST00000368226.4_Missense_Mutation_p.S82C|PTPRK_ENST00000532331.1_Missense_Mutation_p.S82C|PTPRK_ENST00000524481.1_5'UTR			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	82	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to reactive oxygen species (GO:0034614)|cellular response to UV (GO:0034644)|focal adhesion assembly (GO:0048041)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	axon (GO:0030424)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|leading edge membrane (GO:0031256)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.S82C(1)	PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GTGATCTGAAGAGTCCACTAT	0.363																																																	1	Substitution - Missense(1)	cervix(1)											115.0	114.0	115.0					6																	128643434		2203	4300	6503	SO:0001583	missense	5796			L77886	CCDS5137.1, CCDS47473.1, CCDS75517.1	6q22.2-q22.3	2013-02-11			ENSG00000152894	ENSG00000152894		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9674	protein-coding gene	gene with protein product		602545				9047348, 8663237	Standard	NM_002844		Approved	R-PTP-kappa	uc010kfc.3	Q15262	OTTHUMG00000015536	ENST00000368215.3:c.245C>G	6.37:g.128643434G>C	ENSP00000357198:p.Ser82Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ8|B7ZMG0|Q14763|Q5TG10|Q5TG11	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S82C	ENST00000368215.3	37	c.245		6	.	.	.	.	.	.	.	.	.	.	G	23.0	4.366376	0.82463	.	.	ENSG00000152894	ENST00000368226;ENST00000368227;ENST00000532331;ENST00000368213;ENST00000368210;ENST00000368215;ENST00000368207;ENST00000525459	T;T;T;T;T;T;T;T	0.02472	4.28;4.28;4.28;4.28;4.28;4.28;4.28;4.28	6.06	6.06	0.98353	Concanavalin A-like lectin/glucanase (1);MAM domain (5);	0.349553	0.27509	N	0.019054	T	0.13415	0.0325	M	0.85630	2.765	0.35070	D	0.762419	P;D;D;D;P;P	0.89917	0.938;0.996;0.996;1.0;0.728;0.681	P;D;P;D;P;P	0.72982	0.753;0.928;0.882;0.979;0.674;0.545	T	0.00480	-1.1714	10	0.87932	D	0	.	19.6279	0.95687	0.0:0.0:1.0:0.0	.	82;82;82;82;82;82	B4DHC3;B7ZMG0;Q15262-3;E9PRW2;Q15262;Q15262-2	.;.;.;.;PTPRK_HUMAN;.	C	82	ENSP00000357209:S82C;ENSP00000357210:S82C;ENSP00000432973:S82C;ENSP00000357196:S82C;ENSP00000357193:S82C;ENSP00000357198:S82C;ENSP00000357190:S82C;ENSP00000434116:S82C	ENSP00000357190:S82C	S	-	2	0	PTPRK	128685127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.732000	0.62029	2.880000	0.98712	0.650000	0.86243	TCT	PTPRK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom		0.363	PTPRK-005	KNOWN	basic|appris_candidate	protein_coding	PTPRK	HGNC	protein_coding	OTTHUMT00000042163.1	G			128643434	-1	no_errors	ENST00000368227	ensembl	human	known	70_37	missense	SNP	1.000	C
RASA1	5921	genome.wustl.edu	37	5	86564633	86564633	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:86564633C>A	ENST00000274376.6	+	1	929	c.365C>A	c.(364-366)tCg>tAg	p.S122*	RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank|RASA1_ENST00000512763.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	122					blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)	p.S122*(1)		NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		CTGCCCACTTCGTTGCTTGCT	0.657																																																	1	Substitution - Nonsense(1)	cervix(1)											48.0	41.0	43.0					5																	86564633		2203	4300	6503	SO:0001587	stop_gained	5921				CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.365C>A	5.37:g.86564633C>A	ENSP00000274376:p.Ser122*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6W3|Q9UDI1	Nonsense_Mutation	SNP	pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2	p.S122*	ENST00000274376.6	37	c.365	CCDS34200.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.811831	0.98962	.	.	ENSG00000145715	ENST00000274376;ENST00000534133	.	.	.	3.79	2.91	0.33838	.	1.163050	0.06618	N	0.756847	.	.	.	.	.	.	0.34332	D	0.687829	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.1402	0.42730	0.0:0.8996:0.0:0.1004	.	.	.	.	X	122;155	.	ENSP00000274376:S122X	S	+	2	0	RASA1	86600389	0.004000	0.15560	0.144000	0.22314	0.618000	0.37518	0.825000	0.27393	0.921000	0.36994	0.561000	0.74099	TCG	RASA1	-	NULL		0.657	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASA1	HGNC	protein_coding	OTTHUMT00000369729.1	C	NM_002890		86564633	+1	no_errors	ENST00000274376	ensembl	human	known	70_37	nonsense	SNP	0.126	A
RASGEF1A	221002	genome.wustl.edu	37	10	43696186	43696186	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:43696186C>T	ENST00000395809.1	-	5	3116	c.610G>A	c.(610-612)Gcc>Acc	p.A204T	RASGEF1A_ENST00000472864.1_5'UTR|RASGEF1A_ENST00000395810.1_Missense_Mutation_p.A204T|RASGEF1A_ENST00000374459.1_Missense_Mutation_p.A212T			Q8N9B8	RGF1A_HUMAN	RasGEF domain family, member 1A	204					cell migration (GO:0016477)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)	p.A151T(1)|p.A204T(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCTTCTGGGCGGCTGGTGGC	0.652																																																	2	Substitution - Missense(2)	cervix(2)											63.0	55.0	57.0					10																	43696186		2203	4300	6503	SO:0001583	missense	221002			AK095136	CCDS7202.2, CCDS60517.1	10q11.21	2006-01-11			ENSG00000198915	ENSG00000198915			24246	protein-coding gene	gene with protein product		614531				12477932	Standard	XM_005271808		Approved	CG4853, FLJ37817	uc001jap.1	Q8N9B8	OTTHUMG00000018025	ENST00000395809.1:c.610G>A	10.37:g.43696186C>T	ENSP00000379154:p.Ala204Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBF1	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A204T	ENST00000395809.1	37	c.610	CCDS7202.2	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.182|8.182	0.794046|0.794046	0.16327|0.16327	.|.	.|.	ENSG00000198915|ENSG00000198915	ENST00000374459;ENST00000395810;ENST00000395809|ENST00000374455	T;T;T|.	0.28454|.	1.61;1.61;1.61|.	5.04|5.04	0.319|0.319	0.15873|0.15873	Ras guanine nucleotide exchange factor, domain (1);|.	0.475212|.	0.20905|.	N|.	0.083579|.	T|T	0.10981|0.10981	0.0268|0.0268	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	B;B|.	0.12013|.	0.0;0.005|.	B;B|.	0.08055|.	0.001;0.003|.	T|T	0.25082|0.25082	-1.0142|-1.0142	10|5	0.14252|.	T|.	0.57|.	.|.	0.5568|0.5568	0.00672|0.00672	0.2622:0.3214:0.1291:0.2872|0.2622:0.3214:0.1291:0.2872	.|.	204;212|.	Q8N9B8;Q8N9B8-2|.	RGF1A_HUMAN;.|.	T|H	212;204;204|105	ENSP00000363583:A212T;ENSP00000379155:A204T;ENSP00000379154:A204T|.	ENSP00000363583:A212T|.	A|R	-|-	1|2	0|0	RASGEF1A|RASGEF1A	43016192|43016192	0.000000|0.000000	0.05858|0.05858	0.081000|0.081000	0.20488|0.20488	0.790000|0.790000	0.44656|0.44656	-0.299000|-0.299000	0.08254|0.08254	0.052000|0.052000	0.16007|0.16007	0.455000|0.455000	0.32223|0.32223	GCC|CGC	RASGEF1A	-	superfamily_Ras_GEF_dom		0.652	RASGEF1A-003	KNOWN	basic|CCDS	protein_coding	RASGEF1A	HGNC	protein_coding	OTTHUMT00000313989.1	C	NM_145313		43696186	-1	no_errors	ENST00000395809	ensembl	human	known	70_37	missense	SNP	0.001	T
RASL10A	10633	genome.wustl.edu	37	22	29709663	29709664	+	Intron	INS	-	-	C	rs565025838|rs373817664|rs397832462|rs695646	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr22:29709663_29709664insC	ENST00000216101.6	-	3	854				RASL10A_ENST00000608559.1_Intron|RASL10A_ENST00000401450.3_3'UTR	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						CAGAGACACCGCCCCCCCCGCC	0.653													?|CCCCCCCC|CCCCCCCCC|unsure	608	0.121406	0.143	0.1844	5008	,	,		16369	0.0417		0.1571	False		,,,				2504	0.093																0																																										SO:0001627	intron_variant	10633			Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106	ENST00000216101.6:c.345-106->G	22.37:g.29709671_29709671dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AU5|Q6PI03	RNA	INS	-	NULL	ENST00000216101.6	37	NULL	CCDS13854.1	22																																																																																			RASL10A	-	-		0.653	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASL10A	HGNC	protein_coding	OTTHUMT00000321342.1	-			29709664	-1	no_errors	ENST00000474590	ensembl	human	known	70_37	rna	INS	0.008:0.008	C
RBBP8	5932	genome.wustl.edu	37	18	20573283	20573283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:20573283C>A	ENST00000399722.2	+	11	1844	c.1493C>A	c.(1492-1494)tCa>tAa	p.S498*	RBBP8_ENST00000399725.2_Nonsense_Mutation_p.S498*|RBBP8_ENST00000327155.5_Nonsense_Mutation_p.S498*|RBBP8_ENST00000360790.5_Nonsense_Mutation_p.S498*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	498					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.S498*(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GATCGATTTTCAGCTATTCAG	0.388								Homologous recombination																																									2	Substitution - Nonsense(2)	cervix(2)											59.0	60.0	59.0					18																	20573283		2193	4278	6471	SO:0001587	stop_gained	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1493C>A	18.37:g.20573283C>A	ENSP00000382628:p.Ser498*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.S498*	ENST00000399722.2	37	c.1493	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	C	41	8.851186	0.98978	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	.	.	.	6.17	6.17	0.99709	.	0.368409	0.23502	N	0.047494	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.6348	17.766	0.88477	0.0:0.8782:0.1218:0.0	.	.	.	.	X	498	.	ENSP00000323050:S498X	S	+	2	0	RBBP8	18827281	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	3.787000	0.55439	2.941000	0.99782	0.655000	0.94253	TCA	RBBP8	-	NULL		0.388	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	C	NM_203291		20573283	+1	no_errors	ENST00000327155	ensembl	human	known	70_37	nonsense	SNP	1.000	A
RBBP8	5932	genome.wustl.edu	37	18	20573291	20573291	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:20573291C>T	ENST00000399722.2	+	11	1852	c.1501C>T	c.(1501-1503)Cag>Tag	p.Q501*	RBBP8_ENST00000399725.2_Nonsense_Mutation_p.Q501*|RBBP8_ENST00000327155.5_Nonsense_Mutation_p.Q501*|RBBP8_ENST00000360790.5_Nonsense_Mutation_p.Q501*	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	501					blastocyst hatching (GO:0001835)|cell cycle checkpoint (GO:0000075)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|G1/S transition of mitotic cell cycle (GO:0000082)|G2 DNA damage checkpoint (GO:0031572)|meiotic nuclear division (GO:0007126)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	damaged DNA binding (GO:0003684)|RNA polymerase II repressing transcription factor binding (GO:0001103)|RNA polymerase II transcription corepressor activity (GO:0001106)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)	p.Q501*(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TTCAGCTATTCAGCGTCAAGA	0.398								Homologous recombination																																									2	Substitution - Nonsense(2)	cervix(2)											57.0	58.0	58.0					18																	20573291		2193	4278	6471	SO:0001587	stop_gained	5932			AF043431	CCDS11874.1, CCDS11875.1	18q11.2	2012-11-05	2001-11-28		ENSG00000101773	ENSG00000101773			9891	protein-coding gene	gene with protein product	"""CTBP-interacting protein"""	604124	"""retinoblastoma-binding protein 8"", ""Seckel syndrome 2"""	SCKL2		9721205, 17965729, 21998596	Standard	NM_002894		Approved	CtIP, RIM, COM1	uc002ktw.3	Q99708	OTTHUMG00000131769	ENST00000399722.2:c.1501C>T	18.37:g.20573291C>T	ENSP00000382628:p.Gln501*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKN2|A8K8W6|E7ETY1|O75371|Q8NHQ3	Nonsense_Mutation	SNP	pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP	p.Q501*	ENST00000399722.2	37	c.1501	CCDS11875.1	18	.	.	.	.	.	.	.	.	.	.	C	40	8.077659	0.98643	.	.	ENSG00000101773	ENST00000327155;ENST00000399725;ENST00000399722;ENST00000399721;ENST00000360790	.	.	.	6.17	5.3	0.74995	.	0.287715	0.30620	N	0.009240	.	.	.	.	.	.	0.48236	D	0.999611	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-0.4061	9.8665	0.41148	0.1397:0.7915:0.0:0.0688	.	.	.	.	X	501	.	ENSP00000323050:Q501X	Q	+	1	0	RBBP8	18827289	0.157000	0.22836	0.346000	0.25655	0.969000	0.65631	2.007000	0.40883	2.941000	0.99782	0.655000	0.94253	CAG	RBBP8	-	NULL		0.398	RBBP8-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RBBP8	HGNC	protein_coding	OTTHUMT00000446387.1	C	NM_203291		20573291	+1	no_errors	ENST00000327155	ensembl	human	known	70_37	nonsense	SNP	0.253	T
RBM34	23029	genome.wustl.edu	37	1	235295079	235295079	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:235295079C>G	ENST00000408888.3	-	11	1472	c.1242G>C	c.(1240-1242)aaG>aaC	p.K414N	RBM34_ENST00000495224.1_5'UTR|RBM34_ENST00000366606.3_Missense_Mutation_p.K409N|TOMM20_ENST00000366607.4_5'Flank			P42696	RBM34_HUMAN	RNA binding motif protein 34	414						nucleolus (GO:0005730)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.K414N(1)		central_nervous_system(1)	1	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;5.43e-05)|Epithelial(3;0.000121)			TCTGTCCTTTCTTCTTCGTTT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											122.0	115.0	117.0					1																	235295079		1832	4086	5918	SO:0001583	missense	23029				CCDS41477.1, CCDS41477.2	1q42.3	2013-02-12			ENSG00000188739	ENSG00000188739		"""RNA binding motif (RRM) containing"""	28965	protein-coding gene	gene with protein product						7788527, 15134903	Standard	NM_015014		Approved	KIAA0117	uc001hwn.3	P42696	OTTHUMG00000039620	ENST00000408888.3:c.1242G>C	1.37:g.235295079C>G	ENSP00000386226:p.Lys414Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8J7|Q8N2Z8|Q9H5A1	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.K414N	ENST00000408888.3	37	c.1242	CCDS41477.2	1	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457515	0.43634	.	.	ENSG00000188739	ENST00000408888;ENST00000366606;ENST00000447801	T;T;T	0.16897	2.31;2.32;2.49	5.59	5.59	0.84812	.	0.044496	0.85682	D	0.000000	T	0.31702	0.0805	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.02047	-1.1223	10	0.31617	T	0.26	-18.2836	8.5621	0.33516	0.0:0.6925:0.2267:0.0808	.	414	P42696	RBM34_HUMAN	N	414;409;392	ENSP00000386226:K414N;ENSP00000355565:K409N;ENSP00000400000:K392N	ENSP00000355565:K409N	K	-	3	2	RBM34	233361702	0.998000	0.40836	1.000000	0.80357	0.854000	0.48673	0.493000	0.22451	2.630000	0.89119	0.563000	0.77884	AAG	RBM34	-	NULL		0.368	RBM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM34	HGNC	protein_coding	OTTHUMT00000100146.1	C	NM_015014		235295079	-1	no_errors	ENST00000408888	ensembl	human	known	70_37	missense	SNP	1.000	G
REG1B	5968	genome.wustl.edu	37	2	79313951	79313951	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:79313951C>A	ENST00000305089.3	-	3	250	c.170G>T	c.(169-171)tGg>tTg	p.W57L		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	57	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				cell proliferation (GO:0008283)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)	p.W57L(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						TGCATCAACCCAGGTCTCAGG	0.527																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											149.0	142.0	144.0					2																	79313951		2203	4300	6503	SO:0001583	missense	5968				CCDS1963.1	2p12	2008-06-04	2008-06-04		ENSG00000172023	ENSG00000172023			9952	protein-coding gene	gene with protein product	"""lithostathine 1 beta"", ""secretory pancreatic stone protein 2"""	167771	"""regenerating islet-derived 1 beta (pancreatic stone protein, pancreatic thread protein)"""			8110835	Standard	NM_006507		Approved	REGL, PSPS2, REGH, REGI-BETA	uc002sny.2	P48304	OTTHUMG00000130019	ENST00000305089.3:c.170G>T	2.37:g.79313951C>A	ENSP00000303206:p.Trp57Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.W57L	ENST00000305089.3	37	c.170	CCDS1963.1	2	.	.	.	.	.	.	.	.	.	.	c	21.5	4.155459	0.78114	.	.	ENSG00000172023	ENST00000454188;ENST00000305089	T;T	0.13089	2.62;2.62	3.74	3.74	0.42951	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.36740	N	0.002434	T	0.52789	0.1756	H	0.98918	4.37	0.37812	D	0.92808	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.72443	-0.4292	10	0.72032	D	0.01	.	11.2197	0.48846	0.0:1.0:0.0:0.0	.	57;57	Q6ICS1;P48304	.;REG1B_HUMAN	L	8;57	ENSP00000387410:W8L;ENSP00000303206:W57L	ENSP00000303206:W57L	W	-	2	0	REG1B	79167459	0.351000	0.24887	0.440000	0.26846	0.653000	0.38743	0.528000	0.23002	2.087000	0.62958	0.561000	0.74099	TGG	REG1B	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.527	REG1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1B	HGNC	protein_coding	OTTHUMT00000252292.2	C	NM_006507		79313951	-1	no_errors	ENST00000305089	ensembl	human	known	70_37	missense	SNP	0.871	A
RGPD4	285190	genome.wustl.edu	37	2	108489230	108489230	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:108489230G>A	ENST00000408999.3	+	20	4847	c.4770G>A	c.(4768-4770)caG>caA	p.Q1590Q	RGPD4_ENST00000354986.4_Silent_p.Q1590Q	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1590					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CAGTAGCCCAGAGTGGATCTG	0.378																																																	0													50.0	41.0	44.0					2																	108489230		691	1591	2282	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.4770G>A	2.37:g.108489230G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	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.Q1590	ENST00000408999.3	37	c.4770	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	6.244	0.413061	0.11812	.	.	ENSG00000196862	ENST00000439322	.	.	.	1.77	1.77	0.24775	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0707	0.25177	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RGPD4	107855662	0.983000	0.35010	0.961000	0.40146	0.415000	0.31203	0.514000	0.22786	1.303000	0.44873	0.162000	0.16502	.	RGPD4	-	NULL		0.378	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108489230	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	silent	SNP	0.985	A
RLTPR	146206	genome.wustl.edu	37	16	67688786	67688786	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67688786G>A	ENST00000334583.6	+	32	4016	c.3688G>A	c.(3688-3690)Gaa>Aaa	p.E1230K	RLTPR_ENST00000545661.1_Missense_Mutation_p.E1194K	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1230					cell migration (GO:0016477)|establishment of protein localization (GO:0045184)|homeostasis of number of cells (GO:0048872)|maintenance of cell polarity (GO:0030011)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interferon-gamma secretion (GO:1902715)|positive regulation of interleukin-2 secretion (GO:1900042)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|F-actin capping protein complex (GO:0008290)|immunological synapse (GO:0001772)|membrane (GO:0016020)		p.E1230K(1)|p.E1270K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CGGGGGTGCCGAAGGCAAGAG	0.577																																																	2	Substitution - Missense(2)	cervix(2)											40.0	48.0	45.0					16																	67688786		2176	4269	6445	SO:0001583	missense	146206			AB113647	CCDS45513.1	16q22.1	2010-09-10				ENSG00000159753			27089	protein-coding gene	gene with protein product	"""RGD, leucine-rich repeat, tropomodulin and proline-rich containing protein"", ""leucine rich repeat containing 16C"""	610859				15588584, 19846667	Standard	XM_005255807		Approved	LRRC16C, CARMIL2	uc002etn.3	Q6F5E8		ENST00000334583.6:c.3688G>A	16.37:g.67688786G>A	ENSP00000334958:p.Glu1230Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B8X2Z3	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E1230K	ENST00000334583.6	37	c.3688	CCDS45513.1	16	.	.	.	.	.	.	.	.	.	.	G	20.4	3.990427	0.74589	.	.	ENSG00000159753	ENST00000334583;ENST00000398282;ENST00000545661	T;T	0.19105	2.23;2.17	5.99	5.99	0.97316	.	0.107968	0.41605	D	0.000859	T	0.23688	0.0573	N	0.14661	0.345	0.41741	D	0.989612	D;D	0.69078	0.997;0.997	P;P	0.51742	0.678;0.678	T	0.02220	-1.1193	10	0.66056	D	0.02	-13.0323	18.6582	0.91462	0.0:0.0:1.0:0.0	.	1194;1230	B8X2Z3;Q6F5E8	.;LR16C_HUMAN	K	1230;327;1194	ENSP00000334958:E1230K;ENSP00000441481:E1194K	ENSP00000334958:E1230K	E	+	1	0	RLTPR	66246287	1.000000	0.71417	0.944000	0.38274	0.555000	0.35460	5.788000	0.69020	2.840000	0.97914	0.655000	0.94253	GAA	RLTPR	-	NULL		0.577	RLTPR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RLTPR	HGNC	protein_coding	OTTHUMT00000467858.1	G	NM_001013838		67688786	+1	no_errors	ENST00000334583	ensembl	human	known	70_37	missense	SNP	0.972	A
RNF213	57674	genome.wustl.edu	37	17	78332128	78332128	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:78332128C>T	ENST00000582970.1	+	37	11046	c.10903C>T	c.(10903-10905)Ctg>Ttg	p.L3635L	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.L3684L|RNF213_ENST00000336301.6_Silent_p.L1708L	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3635					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.L1708L(1)|p.L3684L(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGTCACCCCTCTGCTGGCGAG	0.572																																																	2	Substitution - coding silent(2)	cervix(2)											82.0	71.0	75.0					17																	78332128		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10903C>T	17.37:g.78332128C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.L3635	ENST00000582970.1	37	c.10903	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.572	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78332128	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.940	T
RNF213	57674	genome.wustl.edu	37	17	78355466	78355466	+	Silent	SNP	C	C	T	rs147013725		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:78355466C>T	ENST00000582970.1	+	57	14060	c.13917C>T	c.(13915-13917)atC>atT	p.I4639I	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.I4688I|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2712I	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4639					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.I2712I(1)|p.I4688I(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			ACGAGACCATCGGCGTGGTCC	0.607																																																	2	Substitution - coding silent(2)	cervix(2)						C		0,4406		0,0,2203	86.0	68.0	74.0		14064	3.0	0.0	17	dbSNP_134	74	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	RNF213	NM_020914.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		4688/5257	78355466	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.13917C>T	17.37:g.78355466C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I4639	ENST00000582970.1	37	c.13917	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.607	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78355466	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.002	T
RPL13A	23521	genome.wustl.edu	37	19	49993523	49993523	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:49993523C>G	ENST00000391857.4	+	3	199	c.123C>G	c.(121-123)atC>atG	p.I41M	SNORD32A_ENST00000364805.1_RNA|SNORD35A_ENST00000363389.1_RNA|RPL13A_ENST00000477613.2_3'UTR|CTD-3148I10.15_ENST00000595815.1_RNA|SNORD34_ENST00000365633.1_RNA|SNORD33_ENST00000362761.1_RNA	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	41					cellular protein metabolic process (GO:0044267)|cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of formation of translation preinitiation complex (GO:1901194)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|GAIT complex (GO:0097452)|large ribosomal subunit (GO:0015934)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.I41M(1)		cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GTGAAGGCATCAACATTTCTG	0.557																																																	1	Substitution - Missense(1)	cervix(1)											54.0	51.0	52.0					19																	49993523		2203	4300	6503	SO:0001583	missense	23521			X56932	CCDS12768.1, CCDS74421.1	19q13.3	2011-04-06			ENSG00000142541	ENSG00000142541		"""L ribosomal proteins"""	10304	protein-coding gene	gene with protein product			"""tissue specific transplantation antigen 1"""	TSTA1			Standard	NM_012423		Approved	L13A	uc031rlt.1	P40429	OTTHUMG00000134289	ENST00000391857.4:c.123C>G	19.37:g.49993523C>G	ENSP00000375730:p.Ile41Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K505	Missense_Mutation	SNP	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc	p.I41M	ENST00000391857.4	37	c.123	CCDS12768.1	19	.	.	.	.	.	.	.	.	.	.	C	21.5	4.165375	0.78339	.	.	ENSG00000142541	ENST00000391857;ENST00000396949	.	.	.	4.92	3.89	0.44902	Ribosomal protein L13 domain (2);	0.000000	0.64402	U	0.000002	T	0.70386	0.3218	M	0.86953	2.85	0.53688	D	0.999977	P	0.52316	0.952	P	0.56788	0.806	T	0.71391	-0.4607	9	0.54805	T	0.06	.	6.0476	0.19768	0.1874:0.7158:0.0:0.0969	.	41	P40429	RL13A_HUMAN	M	41	.	ENSP00000375730:I41M	I	+	3	3	RPL13A	54685335	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.155000	0.42301	1.065000	0.40693	0.655000	0.94253	ATC	RPL13A	-	pfam_Ribosomal_L13,superfamily_Ribosomal_L13_dom,tigrfam_Ribosomal_L13_euk/arc		0.557	RPL13A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL13A	HGNC	protein_coding	OTTHUMT00000258989.1	C			49993523	+1	no_errors	ENST00000391857	ensembl	human	known	70_37	missense	SNP	1.000	G
RPL6	6128	genome.wustl.edu	37	12	112846139	112846139	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:112846139C>T	ENST00000424576.2	-	3	426	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K	RPL6_ENST00000202773.9_Missense_Mutation_p.E81K	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	81					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.E81K(1)		cervix(1)|large_intestine(6)|lung(3)	10						TTTTTCTTTTCAACCTACAAG	0.443																																																	1	Substitution - Missense(1)	cervix(1)											122.0	127.0	125.0					12																	112846139		2203	4300	6503	SO:0001583	missense	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.241G>A	12.37:g.112846139C>T	ENSP00000403172:p.Glu81Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.E81K	ENST00000424576.2	37	c.241	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	C	27.1	4.799075	0.90538	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000549847;ENST00000553213;ENST00000551291;ENST00000548343	T;T	0.32753	1.44;1.44	5.03	5.03	0.67393	Ribosomal protein L6, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51058	0.1652	L	0.55834	1.745	0.58432	D	0.999998	D	0.76494	0.999	D	0.83275	0.996	T	0.37842	-0.9688	10	0.25751	T	0.34	.	18.3851	0.90464	0.0:1.0:0.0:0.0	.	81	Q02878	RL6_HUMAN	K	81;81;21;81;81;81;81	ENSP00000202773:E81K;ENSP00000403172:E81K	ENSP00000202773:E81K	E	-	1	0	RPL6	111330522	1.000000	0.71417	0.945000	0.38365	0.700000	0.40528	7.320000	0.79064	2.348000	0.79779	0.655000	0.94253	GAA	RPL6	-	pfam_Ribosomal_L6_N		0.443	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1	C			112846139	-1	no_errors	ENST00000202773	ensembl	human	known	70_37	missense	SNP	1.000	T
RPL7A	6130	genome.wustl.edu	37	9	136217463	136217463	+	Missense_Mutation	SNP	C	C	G	rs587658264	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:136217463C>G	ENST00000323345.6	+	6	537	c.507C>G	c.(505-507)ttC>ttG	p.F169L	SURF1_ENST00000495952.1_5'Flank|MED22_ENST00000371999.1_5'Flank|RPL7A_ENST00000315731.4_Missense_Mutation_p.F54L|MED22_ENST00000344469.5_5'Flank|RPL7A_ENST00000463740.1_3'UTR|SNORD36C_ENST00000516733.1_RNA|MED22_ENST00000476080.1_5'Flank|MED22_ENST00000491289.1_5'Flank|SNORD24_ENST00000383884.1_RNA|SNORD36B_ENST00000363961.1_RNA|MED22_ENST00000471524.1_5'Flank|MED22_ENST00000343730.5_5'Flank|SNORD36A_ENST00000362874.1_RNA	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	169					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosome biogenesis (GO:0042254)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)|polysomal ribosome (GO:0042788)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.F169L(1)		cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGGTTGTCTTCTTGCCTGCCC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											88.0	77.0	81.0					9																	136217463		2203	4300	6503	SO:0001583	missense	6130			BC005128	CCDS6965.1	9q34	2011-04-06			ENSG00000148303	ENSG00000148303		"""L ribosomal proteins"""	10364	protein-coding gene	gene with protein product	"""surfeit 3"", ""PLA-X polypeptide"", ""surfeit locus protein 3"", ""60S ribosomal protein L7a"", "";"", ""thyroid hormone receptor uncoupling protein"""	185640				2403926, 2966065	Standard	NM_000972		Approved	SURF3, TRUP, L7A	uc004cde.1	P62424	OTTHUMG00000020864	ENST00000323345.6:c.507C>G	9.37:g.136217463C>G	ENSP00000361076:p.Phe169Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	P11518|Q5T8U4	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2	p.F169L	ENST00000323345.6	37	c.507	CCDS6965.1	9	.	.	.	.	.	.	.	.	.	.	C	20.3	3.970942	0.74246	.	.	ENSG00000148303	ENST00000323345;ENST00000315731	T;T	0.43688	0.94;0.94	5.47	4.57	0.56435	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.000000	0.85682	D	0.000000	T	0.56659	0.2000	M	0.85777	2.775	0.58432	D	0.999998	B	0.32543	0.375	B	0.42995	0.404	T	0.62296	-0.6884	10	0.72032	D	0.01	.	12.9835	0.58577	0.0:0.9224:0.0:0.0776	.	169	P62424	RL7A_HUMAN	L	169;54	ENSP00000361076:F169L;ENSP00000361071:F54L	ENSP00000361071:F54L	F	+	3	2	RPL7A	135207284	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	4.336000	0.59304	1.302000	0.44855	0.655000	0.94253	TTC	RPL7A	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.463	RPL7A-009	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL7A	HGNC	protein_coding	OTTHUMT00000054869.1	C	NM_000972		136217463	+1	no_errors	ENST00000323345	ensembl	human	known	70_37	missense	SNP	1.000	G
RPS27A	6233	genome.wustl.edu	37	2	55459972	55459972	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:55459972C>T	ENST00000272317.6	+	2	336	c.12C>T	c.(10-12)ttC>ttT	p.F4F	RPS27A_ENST00000404735.1_Silent_p.F4F|CLHC1_ENST00000406076.1_5'Flank|RPS27A_ENST00000402285.3_Silent_p.F4F|CLHC1_ENST00000406437.2_5'Flank|CLHC1_ENST00000494539.1_5'Flank|CLHC1_ENST00000401408.1_5'Flank|CLHC1_ENST00000407122.1_5'Flank	NM_002954.5	NP_002945.1	P62979	RS27A_HUMAN	ribosomal protein S27a	4	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|viral transcription (GO:0019083)|virion assembly (GO:0019068)	cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|small ribosomal subunit (GO:0015935)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)	p.F4F(1)		cervix(1)|ovary(1)|urinary_tract(1)	3						TGCAGATTTTCGTGAAAACCC	0.537																																																	1	Substitution - coding silent(1)	cervix(1)											25.0	25.0	25.0					2																	55459972		2203	4300	6503	SO:0001819	synonymous_variant	6233			AB007163	CCDS33202.1	2p16	2011-04-06			ENSG00000143947	ENSG00000143947		"""S ribosomal proteins"""	10417	protein-coding gene	gene with protein product	"""ubiquitin carboxyl extension protein 80"""	191343				9582194	Standard	NM_001135592		Approved	UBCEP80, Uba80, S27A	uc010yow.2	P62979	OTTHUMG00000151919	ENST00000272317.6:c.12C>T	2.37:g.55459972C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P02248|P02249|P02250|P14798|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BQ77|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Silent	SNP	pfam_Ubiquitin,pfam_Ribosomal_S27a,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.F4	ENST00000272317.6	37	c.12	CCDS33202.1	2																																																																																			RPS27A	-	pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup		0.537	RPS27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS27A	HGNC	protein_coding	OTTHUMT00000324423.15	C			55459972	+1	no_errors	ENST00000272317	ensembl	human	known	70_37	silent	SNP	1.000	T
RS1	6247	genome.wustl.edu	37	X	18662593	18662593	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:18662593C>T	ENST00000379984.3	-	5	519	c.479G>A	c.(478-480)cGc>cAc	p.R160H	CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379996.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	160	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				adaptation of rhodopsin mediated signaling (GO:0016062)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|retina layer formation (GO:0010842)|visual perception (GO:0007601)	extracellular space (GO:0005615)|extrinsic component of plasma membrane (GO:0019897)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|phosphatidylserine binding (GO:0001786)	p.R160H(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCAGTTCAGGCGCTCATCGGT	0.537																																																	1	Substitution - Missense(1)	cervix(1)											171.0	131.0	145.0					X																	18662593		2203	4300	6503	SO:0001583	missense	6247			AF014459	CCDS14187.1	Xp22.2-p22.1	2014-09-17	2008-07-29		ENSG00000102104	ENSG00000102104			10457	protein-coding gene	gene with protein product		300839	"""retinoschisis (X-linked, juvenile) 1"""	RS		9326935, 17804407	Standard	NM_000330		Approved	XLRS1	uc004cyo.3	O15537	OTTHUMG00000021216	ENST00000379984.3:c.479G>A	X.37:g.18662593C>T	ENSP00000369320:p.Arg160His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD39	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.R160H	ENST00000379984.3	37	c.479	CCDS14187.1	X	.	.	.	.	.	.	.	.	.	.	c	13.15	2.150055	0.37923	.	.	ENSG00000102104	ENST00000379984	D	0.98914	-5.23	4.91	2.2	0.27929	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.615775	0.18885	N	0.128465	D	0.93769	0.8008	N	0.15975	0.35	0.24352	N	0.994919	B	0.02656	0.0	B	0.06405	0.002	D	0.87174	0.2223	10	0.30078	T	0.28	.	4.3485	0.11144	0.0:0.4003:0.1629:0.4368	.	160	O15537	XLRS1_HUMAN	H	160	ENSP00000369320:R160H	ENSP00000369320:R160H	R	-	2	0	RS1	18572514	0.325000	0.24660	0.998000	0.56505	0.995000	0.86356	0.505000	0.22642	0.219000	0.20840	-0.201000	0.12746	CGC	RS1	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.537	RS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RS1	HGNC	protein_coding	OTTHUMT00000055949.1	C			18662593	-1	no_errors	ENST00000379984	ensembl	human	known	70_37	missense	SNP	0.979	T
RSPH6A	81492	genome.wustl.edu	37	19	46307553	46307553	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:46307553G>C	ENST00000221538.3	-	3	1752	c.1610C>G	c.(1609-1611)tCc>tGc	p.S537C	RSPH6A_ENST00000597055.1_Missense_Mutation_p.S537C|RSPH6A_ENST00000600188.1_Missense_Mutation_p.S273C	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	537	Glu-rich.					intracellular (GO:0005622)		p.S537C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GTTGGCCATGGAGTCGACCAG	0.662																																																	1	Substitution - Missense(1)	cervix(1)											56.0	52.0	53.0					19																	46307553		2203	4300	6503	SO:0001583	missense	81492			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1610C>G	19.37:g.46307553G>C	ENSP00000221538:p.Ser537Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FE2|Q6PEZ9	Missense_Mutation	SNP	pfam_Radial_spoke	p.S537C	ENST00000221538.3	37	c.1610	CCDS12675.1	19	.	.	.	.	.	.	.	.	.	.	G	17.94	3.510426	0.64522	.	.	ENSG00000104941	ENST00000221538	T	0.19394	2.15	3.86	3.86	0.44501	.	0.136026	0.50627	D	0.000101	T	0.46619	0.1402	M	0.84585	2.705	0.26779	N	0.969636	D	0.89917	1.0	D	0.81914	0.995	T	0.35276	-0.9795	10	0.87932	D	0	-0.8922	9.7895	0.40697	0.0:0.2102:0.7898:0.0	.	537	Q9H0K4	RSH6A_HUMAN	C	537	ENSP00000221538:S537C	ENSP00000221538:S537C	S	-	2	0	RSPH6A	50999393	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.671000	0.68095	2.462000	0.83206	0.505000	0.49811	TCC	RSPH6A	-	pfam_Radial_spoke		0.662	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	G			46307553	-1	no_errors	ENST00000221538	ensembl	human	known	70_37	missense	SNP	0.995	C
SAPCD1	401251	genome.wustl.edu	37	6	31732268	31732268	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:31732268G>A	ENST00000425424.1	+	4	466	c.407G>A	c.(406-408)cGg>cAg	p.R136Q	SAPCD1-AS1_ENST00000419679.1_RNA|MSH5_ENST00000534153.4_3'UTR|MSH5-SAPCD1_ENST00000493662.2_3'UTR|SAPCD1_ENST00000415669.2_Missense_Mutation_p.R166Q|VWA7_ENST00000467576.1_5'Flank			Q5SSQ6	SAPC1_HUMAN	suppressor APC domain containing 1	136								p.R166Q(1)									ATGGCTCAGCGGGGCTGCACC	0.597																																																	1	Substitution - Missense(1)	cervix(1)											45.0	50.0	48.0					6																	31732268		2203	4300	6503	SO:0001583	missense	401251				CCDS34411.1	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000228727	ENSG00000228727			13938	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 26"""	C6orf26			Standard	NM_001039651		Approved	NG23		Q5SSQ6	OTTHUMG00000031131	ENST00000425424.1:c.407G>A	6.37:g.31732268G>A	ENSP00000413372:p.Arg136Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2ABF2|A2ABS9|Q9Y335	Missense_Mutation	SNP	pfam_APC_dom	p.R166Q	ENST00000425424.1	37	c.497		6	.	.	.	.	.	.	.	.	.	.	G	7.700	0.692962	0.15039	.	.	ENSG00000228727	ENST00000433778;ENST00000415669;ENST00000425424	T;T	0.31510	1.49;1.57	4.69	-4.54	0.03452	.	.	.	.	.	T	0.03695	0.0105	.	.	.	0.09310	N	1	B	0.23058	0.079	B	0.18263	0.021	T	0.37731	-0.9693	8	0.22109	T	0.4	.	1.8609	0.03188	0.1199:0.1956:0.2525:0.432	.	166	Q5SSQ6-2	.	Q	135;166;136	ENSP00000411948:R166Q;ENSP00000413372:R136Q	ENSP00000411948:R166Q	R	+	2	0	C6orf26	31840247	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.953000	0.00676	-0.899000	0.03901	-1.971000	0.00464	CGG	SAPCD1	-	NULL		0.597	SAPCD1-203	KNOWN	basic	protein_coding	SAPCD1	HGNC	protein_coding		G	NM_001039651		31732268	+1	no_errors	ENST00000415669	ensembl	human	known	70_37	missense	SNP	0.000	A
SCN8A	6334	genome.wustl.edu	37	12	52159725	52159725	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:52159725G>C	ENST00000354534.6	+	16	2993	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	SCN8A_ENST00000550891.1_Missense_Mutation_p.E939Q|SCN8A_ENST00000545061.1_Missense_Mutation_p.E939Q	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	939					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)	p.E939Q(2)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	GGAGTGGATTGAGACCATGTG	0.488																																																	2	Substitution - Missense(2)	cervix(2)											223.0	231.0	228.0					12																	52159725		2202	4299	6501	SO:0001583	missense	6334			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.2815G>C	12.37:g.52159725G>C	ENSP00000346534:p.Glu939Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9VWG8|O95788|Q9NYX2|Q9UPB2	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E939Q	ENST00000354534.6	37	c.2815	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	26.3	4.728675	0.89390	.	.	ENSG00000196876	ENST00000550891;ENST00000354534;ENST00000545061;ENST00000355133;ENST00000357961	D;D;D;D	0.98550	-4.99;-4.4;-4.4;-4.4	4.56	4.56	0.56223	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98960	0.9646	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;0.989;1.0	D;D;D	0.91635	0.994;0.979;0.999	D	0.99433	1.0936	10	0.87932	D	0	.	18.6486	0.91421	0.0:0.0:1.0:0.0	.	939;939;939	F8VWM7;F8VRN5;Q9UQD0	.;.;SCN8A_HUMAN	Q	939;939;939;939;852	ENSP00000448415:E939Q;ENSP00000346534:E939Q;ENSP00000440360:E939Q;ENSP00000347255:E939Q	ENSP00000346534:E939Q	E	+	1	0	SCN8A	50445992	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.657000	0.98554	2.817000	0.96982	0.563000	0.77884	GAG	SCN8A	-	pfam_Ion_trans_dom		0.488	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3	G	NM_014191		52159725	+1	no_errors	ENST00000354534	ensembl	human	known	70_37	missense	SNP	1.000	C
SCNN1G	6340	genome.wustl.edu	37	16	23224213	23224213	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:23224213G>C	ENST00000300061.2	+	10	1572	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	477					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.E477Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTGGTTTCGGAGGTAAGTTC	0.577																																																	1	Substitution - Missense(1)	cervix(1)											73.0	66.0	68.0					16																	23224213		2197	4300	6497	SO:0001583	missense	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1429G>C	16.37:g.23224213G>C	ENSP00000300061:p.Glu477Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.E477Q	ENST00000300061.2	37	c.1429	CCDS10608.1	16	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924931	0.34002	.	.	ENSG00000166828	ENST00000300061	T	0.63417	-0.04	4.88	4.88	0.63580	.	0.144833	0.48286	D	0.000193	T	0.57989	0.2091	L	0.35288	1.05	0.42504	D	0.992945	P	0.48834	0.916	P	0.48141	0.568	T	0.57423	-0.7814	10	0.32370	T	0.25	-26.8374	14.758	0.69583	0.0:0.0:1.0:0.0	.	477	P51170	SCNNG_HUMAN	Q	477	ENSP00000300061:E477Q	ENSP00000300061:E477Q	E	+	1	0	SCNN1G	23131714	1.000000	0.71417	0.925000	0.36789	0.516000	0.34256	5.220000	0.65267	2.243000	0.73865	0.561000	0.74099	GAG	SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.577	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	G	NM_001039		23224213	+1	no_errors	ENST00000300061	ensembl	human	known	70_37	missense	SNP	0.972	C
SEMG1	6406	genome.wustl.edu	37	20	43836630	43836630	+	Nonsense_Mutation	SNP	C	C	G	rs565546419		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:43836630C>G	ENST00000372781.3	+	2	749	c.692C>G	c.(691-693)tCa>tGa	p.S231*	SEMG1_ENST00000244069.6_Nonsense_Mutation_p.S231*	NM_003007.3	NP_002998.1	P04279	SEMG1_HUMAN	semenogelin I	231	Interaction with EPPIN.|Repeat-rich region. {ECO:0000250}.				insemination (GO:0007320)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|secretory granule (GO:0030141)	structural molecule activity (GO:0005198)	p.S231*(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				GAGGAACATTCAAGTAAAGTA	0.388													C|||	1	0.000199681	0.0008	0.0	5008	,	,		22539	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Nonsense(1)	cervix(1)											112.0	96.0	101.0					20																	43836630		2203	4300	6503	SO:0001587	stop_gained	6406				CCDS13345.1	20q12-q13.2	2009-08-06			ENSG00000124233	ENSG00000124233			10742	protein-coding gene	gene with protein product	"""semen coagulating protein"", ""cancer/testis antigen 103"""	182140		SEMG		2912989, 15563730	Standard	NM_003007		Approved	CT103		P04279	OTTHUMG00000032565	ENST00000372781.3:c.692C>G	20.37:g.43836630C>G	ENSP00000361867:p.Ser231*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53ZV0|Q53ZV1|Q53ZV2|Q6X4I9|Q6Y809|Q6Y822|Q6Y823|Q86U64|Q96QM3	Nonsense_Mutation	SNP	pfam_Semenogelin	p.S231*	ENST00000372781.3	37	c.692	CCDS13345.1	20	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849738	0.32699	.	.	ENSG00000124233	ENST00000244069;ENST00000372781	.	.	.	1.43	0.319	0.15873	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.2022	0.15271	0.0:0.6259:0.3741:0.0	.	.	.	.	X	231	.	ENSP00000244069:S231X	S	+	2	0	SEMG1	43270044	0.000000	0.05858	0.001000	0.08648	0.097000	0.18754	-0.574000	0.05868	0.103000	0.17682	0.557000	0.71058	TCA	SEMG1	-	pfam_Semenogelin		0.388	SEMG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SEMG1	HGNC	protein_coding	OTTHUMT00000079416.3	C	NM_003007		43836630	+1	no_errors	ENST00000372781	ensembl	human	known	70_37	nonsense	SNP	0.002	G
SENP6	26054	genome.wustl.edu	37	6	76380320	76380320	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:76380320C>G	ENST00000447266.2	+	11	1754	c.1276C>G	c.(1276-1278)Caa>Gaa	p.Q426E	SENP6_ENST00000541192.1_Missense_Mutation_p.Q22E|SENP6_ENST00000370010.2_Missense_Mutation_p.Q419E|SENP6_ENST00000370014.3_Missense_Mutation_p.Q426E|SENP6_ENST00000327284.8_Missense_Mutation_p.Q419E	NM_015571.2	NP_056386.2	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	426					protein desumoylation (GO:0016926)|protein modification by small protein removal (GO:0070646)|protein sumoylation (GO:0016925)|regulation of kinetochore assembly (GO:0090234)|regulation of spindle assembly (GO:0090169)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	SUMO-specific protease activity (GO:0016929)	p.Q426E(2)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AGTGTTTTCTCAAGAACCTCC	0.358																																																	2	Substitution - Missense(2)	cervix(2)											118.0	104.0	108.0					6																	76380320		1817	4080	5897	SO:0001583	missense	26054				CCDS43483.1, CCDS47454.1	6q13-q14.3	2008-02-05	2005-08-17		ENSG00000112701	ENSG00000112701			20944	protein-coding gene	gene with protein product		605003	"""SUMO1/sentrin specific protease 6"""				Standard	NM_015571		Approved	SUSP1, KIAA0797	uc003pid.4	Q9GZR1	OTTHUMG00000015060	ENST00000447266.2:c.1276C>G	6.37:g.76380320C>G	ENSP00000402527:p.Gln426Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNY9|O94891|Q5VUL3|Q5VUL4|Q8TBY4|Q9UJV5	Missense_Mutation	SNP	pfam_Peptidase_C48,pfscan_Peptidase_C48	p.Q426E	ENST00000447266.2	37	c.1276	CCDS47454.1	6	.	.	.	.	.	.	.	.	.	.	C	7.010	0.556519	0.13436	.	.	ENSG00000112701	ENST00000370010;ENST00000370014;ENST00000538088;ENST00000327284;ENST00000447266;ENST00000424947;ENST00000541192	T;T;T;T;T;T	0.30981	2.71;2.73;1.52;2.73;1.52;1.51	5.64	5.64	0.86602	.	0.481828	0.23614	N	0.046316	T	0.14527	0.0351	L	0.54323	1.7	0.26640	N	0.972304	P;B;B	0.34800	0.469;0.339;0.288	B;B;B	0.30572	0.117;0.08;0.086	T	0.37103	-0.9720	10	0.09338	T	0.73	-5.4078	19.7186	0.96134	0.0:1.0:0.0:0.0	.	419;426;419	Q9GZR1-2;Q9GZR1;F8W6D9	.;SENP6_HUMAN;.	E	419;426;275;419;426;316;22	ENSP00000359027:Q419E;ENSP00000359031:Q426E;ENSP00000321820:Q419E;ENSP00000402527:Q426E;ENSP00000391426:Q316E;ENSP00000441715:Q22E	ENSP00000321820:Q419E	Q	+	1	0	SENP6	76437040	1.000000	0.71417	0.995000	0.50966	0.194000	0.23727	5.359000	0.66074	2.659000	0.90383	0.655000	0.94253	CAA	SENP6	-	NULL		0.358	SENP6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SENP6	HGNC	protein_coding	OTTHUMT00000041272.2	C	NM_015571		76380320	+1	no_errors	ENST00000370014	ensembl	human	known	70_37	missense	SNP	1.000	G
SESN2	83667	genome.wustl.edu	37	1	28599131	28599131	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:28599131G>A	ENST00000253063.3	+	5	898	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	193					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.E193K(1)		cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GTCCCTGGCCGAGCTCATTCA	0.642																																																	1	Substitution - Missense(1)	cervix(1)											138.0	116.0	124.0					1																	28599131		2203	4300	6503	SO:0001583	missense	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.577G>A	1.37:g.28599131G>A	ENSP00000253063:p.Glu193Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7D0|Q96SI5	Missense_Mutation	SNP	pfam_PA26	p.E193K	ENST00000253063.3	37	c.577	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.412605	0.96072	.	.	ENSG00000130766	ENST00000253063	T	0.54479	0.57	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.77491	0.4138	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	T	0.81475	-0.0916	10	0.87932	D	0	-20.13	18.9052	0.92458	0.0:0.0:1.0:0.0	.	193	P58004	SESN2_HUMAN	K	193	ENSP00000253063:E193K	ENSP00000253063:E193K	E	+	1	0	SESN2	28471718	1.000000	0.71417	0.943000	0.38184	0.892000	0.51952	9.378000	0.97191	2.568000	0.86640	0.591000	0.81541	GAG	SESN2	-	pfam_PA26		0.642	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	G			28599131	+1	no_errors	ENST00000253063	ensembl	human	known	70_37	missense	SNP	1.000	A
SGPL1	8879	genome.wustl.edu	37	10	72633330	72633330	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:72633330C>T	ENST00000373202.3	+	12	1482	c.1282C>T	c.(1282-1284)Cgc>Tgc	p.R428C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	428					androgen metabolic process (GO:0008209)|apoptotic signaling pathway (GO:0097190)|ceramide metabolic process (GO:0006672)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|fatty acid metabolic process (GO:0006631)|fibroblast migration (GO:0010761)|hemopoiesis (GO:0030097)|kidney development (GO:0001822)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|palate development (GO:0060021)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|regulation of multicellular organism growth (GO:0040014)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid catabolic process (GO:0030149)|sphingolipid metabolic process (GO:0006665)|vasculogenesis (GO:0001570)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)|sphinganine-1-phosphate aldolase activity (GO:0008117)	p.R428C(1)		large_intestine(4)	4						CAAAACTGCTCGCTTCCTCAA	0.512																																					Colon(151;1054 2458 6676 40971)												1	Substitution - Missense(1)	cervix(1)											136.0	123.0	128.0					10																	72633330		2203	4300	6503	SO:0001583	missense	8879			AI128825	CCDS31216.1	10q21	2008-08-01			ENSG00000166224	ENSG00000166224			10817	protein-coding gene	gene with protein product		603729				9464245, 17090686	Standard	NM_003901		Approved	SPL	uc001jrm.3	O95470	OTTHUMG00000018421	ENST00000373202.3:c.1282C>T	10.37:g.72633330C>T	ENSP00000362298:p.Arg428Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD4|Q7Z732|Q9ULG8|Q9UN89	Missense_Mutation	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.R428C	ENST00000373202.3	37	c.1282	CCDS31216.1	10	.	.	.	.	.	.	.	.	.	.	C	28.9	4.956994	0.92726	.	.	ENSG00000166224	ENST00000373202	T	0.38240	1.15	5.64	5.64	0.86602	Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.68979	0.3060	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.75187	-0.3406	10	0.72032	D	0.01	-12.8179	19.6991	0.96045	0.0:1.0:0.0:0.0	.	428	O95470	SGPL1_HUMAN	C	428	ENSP00000362298:R428C	ENSP00000362298:R428C	R	+	1	0	SGPL1	72303336	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.626000	0.67777	2.646000	0.89796	0.591000	0.81541	CGC	SGPL1	-	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.512	SGPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGPL1	HGNC	protein_coding	OTTHUMT00000048533.1	C	NM_003901		72633330	+1	no_errors	ENST00000373202	ensembl	human	known	70_37	missense	SNP	1.000	T
SH3TC2	79628	genome.wustl.edu	37	5	148406351	148406351	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:148406351G>A	ENST00000515425.1	-	12	2974				SH3TC2_ENST00000538184.1_Intron|SH3TC2_ENST00000512049.1_Intron|SH3TC2_ENST00000513340.1_5'Flank|SH3TC2_ENST00000394358.2_Nonsense_Mutation_p.Q867*	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2						cell death (GO:0008219)|peripheral nervous system myelin maintenance (GO:0032287)|regulation of ERBB signaling pathway (GO:1901184)|regulation of intracellular protein transport (GO:0033157)	cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGATGACTTGAGATAGGAAA	0.458																																																	0													123.0	124.0	124.0					5																	148406351		2203	4300	6503	SO:0001627	intron_variant	79628			AK127248	CCDS4293.1	5q32	2014-09-17			ENSG00000169247	ENSG00000169247		"""Tetratricopeptide (TTC) repeat domain containing"""	29427	protein-coding gene	gene with protein product		608206				14574644	Standard	NM_024577		Approved	KIAA1985, CMT4C	uc003lpu.3	Q8TF17	OTTHUMG00000129930	ENST00000515425.1:c.2873-36C>T	5.37:g.148406351G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWE5|Q14CC0|Q14CF5|Q9H8I5	Nonsense_Mutation	SNP	pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.Q867*	ENST00000515425.1	37	c.2599	CCDS4293.1	5	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724326	0.89298	.	.	ENSG00000169247	ENST00000394358	.	.	.	4.69	-0.118	0.13547	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	.	4.7545	0.13077	0.3348:0.0:0.5207:0.1445	.	.	.	.	X	867	.	ENSP00000377886:Q867X	Q	-	1	0	SH3TC2	148386544	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.044000	0.13992	0.050000	0.15949	-1.003000	0.02500	CAA	SH3TC2	-	NULL		0.458	SH3TC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3TC2	HGNC	protein_coding	OTTHUMT00000252186.2	G	NM_024577		148406351	-1	no_errors	ENST00000394358	ensembl	human	known	70_37	nonsense	SNP	0.000	A
SHCBP1	79801	genome.wustl.edu	37	16	46655178	46655178	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:46655178G>A	ENST00000303383.3	-	1	360	c.94C>T	c.(94-96)Ctg>Ttg	p.L32L	SHCBP1_ENST00000564272.1_5'UTR|RP11-46D6.1_ENST00000574180.1_lincRNA	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	32					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)			p.L32L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCTTTCTCCAGAGACGCCAGC	0.716																																																	1	Substitution - coding silent(1)	cervix(1)											20.0	24.0	23.0					16																	46655178		2175	4266	6441	SO:0001819	synonymous_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.94C>T	16.37:g.46655178G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	superfamily_Pectin_lyase_fold/virulence,smart_PbH1	p.L32	ENST00000303383.3	37	c.94	CCDS10720.1	16																																																																																			SHCBP1	-	NULL		0.716	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	HGNC	protein_coding	OTTHUMT00000255740.1	G	NM_024745		46655178	-1	no_errors	ENST00000303383	ensembl	human	known	70_37	silent	SNP	0.000	A
SHKBP1	92799	genome.wustl.edu	37	19	41083468	41083468	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:41083468C>T	ENST00000291842.5	+	4	241	c.192C>T	c.(190-192)ttC>ttT	p.F64F	SHKBP1_ENST00000600733.1_Silent_p.F64F	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	64	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)			p.F64F(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGCAGATCTTCATCGACAGGG	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											173.0	166.0	168.0					19																	41083468		2203	4300	6503	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.192C>T	19.37:g.41083468C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	NULL	p.S7L	ENST00000291842.5	37	c.20	CCDS12560.1	19																																																																																			SHKBP1	-	NULL		0.592	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41083468	+1	no_errors	ENST00000595523	ensembl	human	known	70_37	missense	SNP	1.000	T
SHROOM2	357	genome.wustl.edu	37	X	9864427	9864427	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:9864427G>A	ENST00000380913.3	+	4	2569	c.2479G>A	c.(2479-2481)Gag>Aag	p.E827K		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	827					apical protein localization (GO:0045176)|brain development (GO:0007420)|camera-type eye development (GO:0043010)|camera-type eye morphogenesis (GO:0048593)|cell migration (GO:0016477)|cell-cell junction maintenance (GO:0045217)|cellular pigment accumulation (GO:0043482)|ear development (GO:0043583)|establishment of melanosome localization (GO:0032401)|eye pigment granule organization (GO:0008057)|lens morphogenesis in camera-type eye (GO:0002089)|melanosome organization (GO:0032438)|negative regulation of actin filament depolymerization (GO:0030835)|sodium ion transmembrane transport (GO:0035725)	apical plasma membrane (GO:0016324)|cell cortex (GO:0005938)|cell-cell adherens junction (GO:0005913)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|beta-catenin binding (GO:0008013)|ligand-gated sodium channel activity (GO:0015280)	p.E827K(1)		breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGACAAGCCAGAGAGGCCGCG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											45.0	43.0	44.0					X																	9864427		2203	4300	6503	SO:0001583	missense	357			X83543	CCDS14135.1	Xp22.3	2008-02-05	2006-07-20	2006-07-20	ENSG00000146950	ENSG00000146950			630	protein-coding gene	gene with protein product		300103	"""apical protein, Xenopus laevis-like"", ""apical protein-like (Xenopus laevis)"""	APXL		7795590, 16615870	Standard	NM_001649		Approved		uc004csu.1	Q13796	OTTHUMG00000021121	ENST00000380913.3:c.2479G>A	X.37:g.9864427G>A	ENSP00000370299:p.Glu827Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ7	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E827K	ENST00000380913.3	37	c.2479	CCDS14135.1	X	.	.	.	.	.	.	.	.	.	.	G	7.878	0.729569	0.15507	.	.	ENSG00000146950	ENST00000380913	T	0.16196	2.36	5.02	3.22	0.36961	.	1.922070	0.01793	N	0.032421	T	0.21387	0.0515	L	0.54323	1.7	0.09310	N	1	P	0.49090	0.919	B	0.42692	0.395	T	0.13710	-1.0499	10	0.42905	T	0.14	-21.6367	5.7731	0.18263	0.1634:0.3071:0.5295:0.0	.	827	Q13796	SHRM2_HUMAN	K	827	ENSP00000370299:E827K	ENSP00000370299:E827K	E	+	1	0	SHROOM2	9824427	0.948000	0.32251	0.013000	0.15412	0.023000	0.10783	3.346000	0.52190	0.898000	0.36418	0.600000	0.82982	GAG	SHROOM2	-	NULL		0.617	SHROOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM2	HGNC	protein_coding	OTTHUMT00000055721.1	G	NM_001649		9864427	+1	no_errors	ENST00000380913	ensembl	human	known	70_37	missense	SNP	0.000	A
SI	6476	genome.wustl.edu	37	3	164710130	164710130	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:164710130C>T	ENST00000264382.3	-	42	4959	c.4897G>A	c.(4897-4899)Gca>Aca	p.A1633T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1633	Sucrase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)	p.A1633T(1)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	ACCATAAATGCTGGACCCCAT	0.308										HNSCC(35;0.089)																																							1	Substitution - Missense(1)	cervix(1)											60.0	62.0	61.0					3																	164710130		2202	4300	6502	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.4897G>A	3.37:g.164710130C>T	ENSP00000264382:p.Ala1633Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.A1633T	ENST00000264382.3	37	c.4897	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	32	5.117688	0.94385	.	.	ENSG00000090402	ENST00000264382	D	0.91740	-2.9	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	D	0.95865	0.8654	M	0.74467	2.265	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96144	0.9102	10	0.87932	D	0	.	18.1895	0.89803	0.0:1.0:0.0:0.0	.	1633	P14410	SUIS_HUMAN	T	1633	ENSP00000264382:A1633T	ENSP00000264382:A1633T	A	-	1	0	SI	166192824	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	5.391000	0.66266	2.689000	0.91719	0.655000	0.94253	GCA	SI	-	pfam_Glyco_hydro_31		0.308	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164710130	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC12A4	6560	genome.wustl.edu	37	16	67986291	67986291	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67986291G>A	ENST00000316341.3	-	7	853	c.713C>T	c.(712-714)tCg>tTg	p.S238L	SLC12A4_ENST00000576616.1_Missense_Mutation_p.S238L|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.S207L|SLC12A4_ENST00000572037.1_Missense_Mutation_p.S190L|SLC12A4_ENST00000422611.2_Missense_Mutation_p.S240L|SLC12A4_ENST00000338335.3_Missense_Mutation_p.S238L|SLC12A4_ENST00000537830.2_Missense_Mutation_p.S232L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	238					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.S238L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATGAGCACCCGATGGGTAAAA	0.453																																																	1	Substitution - Missense(1)	cervix(1)											133.0	130.0	131.0					16																	67986291		2198	4300	6498	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.713C>T	16.37:g.67986291G>A	ENSP00000318557:p.Ser238Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS	p.S240L	ENST00000316341.3	37	c.719	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	G	4.191	0.034173	0.08101	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08;-5.08	4.96	0.568	0.17333	Amino acid permease domain (1);	0.673027	0.16309	N	0.220087	D	0.96065	0.8718	L	0.41710	1.295	0.09310	N	1	B;B;B;B;B;B	0.26672	0.04;0.02;0.156;0.001;0.002;0.02	B;B;B;B;B;B	0.25987	0.045;0.003;0.065;0.0;0.001;0.029	D	0.91613	0.5304	10	0.56958	D	0.05	.	10.1335	0.42693	0.1352:0.0:0.75:0.1148	.	240;238;207;232;238;238	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	L	240;207;232;238;238	ENSP00000395983:S240L;ENSP00000438334:S207L;ENSP00000445962:S232L;ENSP00000343374:S238L;ENSP00000318557:S238L	ENSP00000318557:S238L	S	-	2	0	SLC12A4	66543792	0.000000	0.05858	0.006000	0.13384	0.127000	0.20565	0.070000	0.14573	-0.023000	0.13963	-2.125000	0.00346	TCG	SLC12A4	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.453	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	HGNC	protein_coding	OTTHUMT00000268864.4	G	NM_005072		67986291	-1	no_errors	ENST00000422611	ensembl	human	known	70_37	missense	SNP	0.000	A
SLC1A5	6510	genome.wustl.edu	37	19	47287779	47287779	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:47287779G>A	ENST00000542575.2	-	2	1232	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	SLC1A5_ENST00000434726.2_Intron|SLC1A5_ENST00000412532.2_5'UTR|SLC1A5_ENST00000594991.1_Missense_Mutation_p.R26C	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	202					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)	p.R202C(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	CTCACTGAGCGAAAGGCTGCT	0.552																																																	1	Substitution - Missense(1)	cervix(1)											128.0	126.0	127.0					19																	47287779		2203	4300	6503	SO:0001583	missense	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.604C>T	19.37:g.47287779G>A	ENSP00000444408:p.Arg202Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Missense_Mutation	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.R202C	ENST00000542575.2	37	c.604	CCDS12692.1	19	.	.	.	.	.	.	.	.	.	.	G	24.1	4.488554	0.84854	.	.	ENSG00000105281	ENST00000542575;ENST00000306894	T	0.59906	0.23	5.29	-0.00794	0.14007	.	0.940554	0.08956	N	0.869354	T	0.74390	0.3710	M	0.79475	2.455	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.65140	0.932;0.932	T	0.76211	-0.3042	10	0.87932	D	0	-1.7904	14.2664	0.66121	0.0:0.0:0.5111:0.4889	.	202;202	Q15758;Q71UA6	AAAT_HUMAN;.	C	202;209	ENSP00000444408:R202C	ENSP00000303623:R209C	R	-	1	0	SLC1A5	51979619	1.000000	0.71417	0.974000	0.42286	0.986000	0.74619	2.724000	0.47285	0.249000	0.21456	0.650000	0.86243	CGC	SLC1A5	-	pfam_Na-dicarboxylate_symporter		0.552	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	G			47287779	-1	no_errors	ENST00000542575	ensembl	human	known	70_37	missense	SNP	0.998	A
SLC24A5	283652	genome.wustl.edu	37	15	48414129	48414129	+	Missense_Mutation	SNP	A	A	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:48414129A>G	ENST00000341459.3	+	2	270	c.197A>G	c.(196-198)gAt>gGt	p.D66G	SLC24A5_ENST00000449382.2_Intron|SLC24A5_ENST00000482911.2_Missense_Mutation_p.D66G	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	66					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.D66G(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGCGCAGAGATGGAGGCATC	0.418																																																	1	Substitution - Missense(1)	cervix(1)											181.0	174.0	176.0					15																	48414129		2198	4297	6495	SO:0001583	missense	283652			AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.197A>G	15.37:g.48414129A>G	ENSP00000341550:p.Asp66Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.D66G	ENST00000341459.3	37	c.197	CCDS10128.1	15	.	.	.	.	.	.	.	.	.	.	A	14.68	2.607626	0.46527	.	.	ENSG00000188467	ENST00000341459	T	0.75154	-0.91	5.73	4.6	0.57074	.	0.209193	0.49305	D	0.000148	T	0.58935	0.2157	N	0.24115	0.695	0.80722	D	1	B;P	0.43094	0.191;0.799	B;B	0.37508	0.045;0.252	T	0.57075	-0.7873	10	0.30078	T	0.28	.	12.869	0.57955	0.8555:0.1445:0.0:0.0	.	66;66	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	G	66	ENSP00000341550:D66G	ENSP00000341550:D66G	D	+	2	0	SLC24A5	46201421	1.000000	0.71417	0.068000	0.19968	0.897000	0.52465	5.816000	0.69222	1.098000	0.41479	0.533000	0.62120	GAT	SLC24A5	-	NULL		0.418	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A5	HGNC	protein_coding	OTTHUMT00000254340.2	A	NM_205850		48414129	+1	no_errors	ENST00000341459	ensembl	human	known	70_37	missense	SNP	0.984	G
SLC2A8	29988	genome.wustl.edu	37	9	130167187	130167187	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:130167187C>T	ENST00000373371.3	+	8	1156	c.1067C>T	c.(1066-1068)tCg>tTg	p.S356L	SLC2A8_ENST00000373360.3_Missense_Mutation_p.S356L|SLC2A8_ENST00000485806.1_3'UTR|SLC2A8_ENST00000373352.1_Missense_Mutation_p.S93L	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8	356					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)	p.S356L(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						GTGGCCATCTCGGCGCCTGTC	0.667																																																	1	Substitution - Missense(1)	cervix(1)											69.0	64.0	66.0					9																	130167187		2203	4298	6501	SO:0001583	missense	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.1067C>T	9.37:g.130167187C>T	ENSP00000362469:p.Ser356Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUZ9|Q9NSC4	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.S356L	ENST00000373371.3	37	c.1067	CCDS6870.1	9	.	.	.	.	.	.	.	.	.	.	C	3.997	-0.003275	0.07773	.	.	ENSG00000136856	ENST00000373371;ENST00000451404;ENST00000373352;ENST00000373360;ENST00000439597;ENST00000423934;ENST00000373350;ENST00000430147	D;T;D;T;D;T;T	0.88741	-1.63;-1.48;-2.39;0.54;-2.42;-1.36;-1.29	5.43	0.452	0.16634	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.704240	0.03143	N	0.166919	T	0.68403	0.2997	N	0.01482	-0.84	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.0	T	0.66952	-0.5793	10	0.05525	T	0.97	.	4.7436	0.13026	0.1327:0.3124:0.0:0.5549	.	356;356	Q5VVV9;Q9NY64	.;GTR8_HUMAN	L	356;193;93;356;195;221;221;195	ENSP00000362469:S356L;ENSP00000392434:S193L;ENSP00000362450:S93L;ENSP00000362458:S356L;ENSP00000404893:S195L;ENSP00000389070:S221L;ENSP00000391213:S195L	ENSP00000362448:S221L	S	+	2	0	SLC2A8	129207008	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.087000	0.14958	-0.093000	0.12396	-0.302000	0.09304	TCG	SLC2A8	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.667	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1	C	NM_014580		130167187	+1	no_errors	ENST00000373371	ensembl	human	known	70_37	missense	SNP	0.000	T
SLC39A5	283375	genome.wustl.edu	37	12	56625235	56625235	+	Silent	SNP	G	G	A	rs148881378		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:56625235G>A	ENST00000266980.4	+	2	470	c.177G>A	c.(175-177)gcG>gcA	p.A59A	SLC39A5_ENST00000454355.2_Silent_p.A59A	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	59					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.A58A(1)		NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGGCTTGGCGCGGCTTCTCC	0.647																																																	1	Substitution - coding silent(1)	cervix(1)						G	,	1,4405	2.1+/-5.4	0,1,2202	56.0	61.0	59.0		177,177	-8.6	0.0	12	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous,coding-synonymous	SLC39A5	NM_001135195.1,NM_173596.2	,	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	,	59/541,59/541	56625235	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.177G>A	12.37:g.56625235G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R808|Q8N6Y3	Silent	SNP	pfam_ZIP	p.A59	ENST00000266980.4	37	c.177	CCDS8912.2	12																																																																																			SLC39A5	-	NULL		0.647	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	G	NM_173596		56625235	+1	no_errors	ENST00000266980	ensembl	human	known	70_37	silent	SNP	0.004	A
SLC45A3	85414	genome.wustl.edu	37	1	205632701	205632701	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:205632701G>A	ENST00000367145.3	-	3	513	c.218C>T	c.(217-219)tCa>tTa	p.S73L	SLC45A3_ENST00000460934.1_5'Flank	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	73					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)		p.S73L(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTCACTGGCTGAGCCTAGGAG	0.612			T	"""ETV1, ETV5, ELK4, ERG"""	prostate																																			Dom	yes		1	1q32	85414	"""solute carrier family 45, member 3"""		E	1	Substitution - Missense(1)	cervix(1)											26.0	28.0	27.0					1																	205632701		2154	4239	6393	SO:0001583	missense	85414			AF109301	CCDS1458.1	1q32.1	2013-05-22	2005-10-04	2005-10-04	ENSG00000158715	ENSG00000158715		"""Solute carriers"""	8642	protein-coding gene	gene with protein product		605097	"""prostate cancer associated protein 6"", ""prostate cancer associated protein 2"", ""prostate cancer associated protein 8"""	PCANAP6, PCANAP2, PCANAP8		10613842, 11245466	Standard	XM_005245556		Approved	IPCA-6, prostein, IPCA-2, IPCA-8	uc001hda.1	Q96JT2	OTTHUMG00000037223	ENST00000367145.3:c.218C>T	1.37:g.205632701G>A	ENSP00000356113:p.Ser73Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U9	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.S73L	ENST00000367145.3	37	c.218	CCDS1458.1	1	.	.	.	.	.	.	.	.	.	.	G	34	5.305180	0.95601	.	.	ENSG00000158715	ENST00000367145	D	0.95554	-3.74	4.86	4.86	0.63082	Major facilitator superfamily domain, general substrate transporter (1);	0.059790	0.64402	D	0.000001	D	0.97145	0.9067	M	0.86651	2.83	0.80722	D	1	D	0.58970	0.984	P	0.58660	0.843	D	0.96104	0.9071	10	0.11485	T	0.65	-12.6683	18.1315	0.89603	0.0:0.0:1.0:0.0	.	73	Q96JT2	S45A3_HUMAN	L	73	ENSP00000356113:S73L	ENSP00000356113:S73L	S	-	2	0	SLC45A3	203899324	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.732000	0.84908	2.676000	0.91093	0.655000	0.94253	TCA	SLC45A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.612	SLC45A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC45A3	HGNC	protein_coding	OTTHUMT00000090619.1	G	NM_033102		205632701	-1	no_errors	ENST00000367145	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC4A4	8671	genome.wustl.edu	37	4	72413402	72413402	+	Missense_Mutation	SNP	A	A	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:72413402A>T	ENST00000264485.5	+	20	2776	c.2659A>T	c.(2659-2661)Act>Tct	p.T887S	SLC4A4_ENST00000351898.6_Intron|SLC4A4_ENST00000340595.3_Missense_Mutation_p.T843S|SLC4A4_ENST00000425175.1_Missense_Mutation_p.T887S	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	887					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.T887S(1)|p.T843S(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	GTTTATTCTGACTGGTCTGTC	0.383																																																	2	Substitution - Missense(2)	cervix(2)											220.0	215.0	217.0					4																	72413402		2203	4300	6503	SO:0001583	missense	8671			AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2659A>T	4.37:g.72413402A>T	ENSP00000264485:p.Thr887Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk	p.T887S	ENST00000264485.5	37	c.2659	CCDS43236.1	4	.	.	.	.	.	.	.	.	.	.	A	31	5.061203	0.93846	.	.	ENSG00000080493	ENST00000264485;ENST00000425175;ENST00000340595	T;T;T	0.79247	-1.25;-1.25;-1.25	5.81	5.81	0.92471	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87787	0.6265	M	0.79011	2.435	0.80722	D	1	D;D;D	0.69078	0.997;0.964;0.995	D;P;D	0.76575	0.988;0.864;0.983	D	0.87429	0.2387	10	0.40728	T	0.16	.	16.167	0.81768	1.0:0.0:0.0:0.0	.	887;843;887	A5JJ20;Q9Y6R1-2;Q9Y6R1	.;.;S4A4_HUMAN	S	887;887;843	ENSP00000264485:T887S;ENSP00000393557:T887S;ENSP00000344272:T843S	ENSP00000264485:T887S	T	+	1	0	SLC4A4	72632266	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.317000	0.96327	2.210000	0.71456	0.533000	0.62120	ACT	SLC4A4	-	pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk		0.383	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC4A4	HGNC	protein_coding	OTTHUMT00000362090.1	A	NM_003759		72413402	+1	no_errors	ENST00000425175	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC52A2	79581	genome.wustl.edu	37	8	145584267	145584267	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:145584267G>A	ENST00000532887.1	+	4	1602	c.1019G>A	c.(1018-1020)gGc>gAc	p.G340D	SLC52A2_ENST00000402965.1_Missense_Mutation_p.G340D|FBXL6_ENST00000331890.5_5'Flank|SLC52A2_ENST00000530047.1_Missense_Mutation_p.G340D|SLC52A2_ENST00000526752.1_Intron|FBXL6_ENST00000455319.2_5'Flank|SLC52A2_ENST00000540505.1_Missense_Mutation_p.G252D|SLC52A2_ENST00000527078.1_Missense_Mutation_p.G340D|SLC52A2_ENST00000329994.2_Missense_Mutation_p.G340D			Q9HAB3	S52A2_HUMAN	solute carrier family 52 (riboflavin transporter), member 2	340					riboflavin transport (GO:0032218)	integral component of plasma membrane (GO:0005887)	riboflavin transporter activity (GO:0032217)|virus receptor activity (GO:0001618)	p.G340D(1)								Gamma Hydroxybutyric Acid(DB01440)	GCAGGGCTGGGCGGCCTCTCT	0.706																																																	1	Substitution - Missense(1)	cervix(1)											53.0	60.0	58.0					8																	145584267		2202	4300	6502	SO:0001583	missense	79581			AY070774	CCDS6423.1	8q24.3	2013-07-17	2013-07-17	2012-02-29		ENSG00000185803		"""Solute carriers"""	30224	protein-coding gene	gene with protein product		607882	"""G protein-coupled receptor 172A"""	GPR172A		12740431	Standard	NM_024531		Approved	FLJ11856, PAR1, GPCR41, D15Ertd747e, RFVT2, hRFT3	uc003zcd.2	Q9HAB3		ENST00000532887.1:c.1019G>A	8.37:g.145584267G>A	ENSP00000436768:p.Gly340Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6B6|D3DWL8|G1UCY1|Q86UT1	Missense_Mutation	SNP	pfam_Endogenous_retrovirus_rcpt	p.G340D	ENST00000532887.1	37	c.1019	CCDS6423.1	8	.	.	.	.	.	.	.	.	.	.	G	12.88	2.071657	0.36566	.	.	ENSG00000185803	ENST00000530047;ENST00000527078;ENST00000402965;ENST00000532887;ENST00000329994;ENST00000540505	T;T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89;-0.89	4.69	2.82	0.32997	.	0.237751	0.41938	D	0.000792	T	0.78489	0.4291	M	0.79693	2.465	0.44241	D	0.997086	P	0.45531	0.86	P	0.50896	0.653	T	0.74191	-0.3745	10	0.36615	T	0.2	.	8.0705	0.30687	0.0932:0.1835:0.7233:0.0	.	340	Q9HAB3	RFT3_HUMAN	D	340;340;340;340;340;252	ENSP00000435820:G340D;ENSP00000434728:G340D;ENSP00000385961:G340D;ENSP00000436768:G340D;ENSP00000333638:G340D;ENSP00000440400:G252D	ENSP00000333638:G340D	G	+	2	0	GPR172A	145555075	0.993000	0.37304	0.027000	0.17364	0.077000	0.17291	2.148000	0.42235	0.349000	0.23975	0.462000	0.41574	GGC	SLC52A2	-	pfam_Endogenous_retrovirus_rcpt		0.706	SLC52A2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC52A2	HGNC	protein_coding	OTTHUMT00000382405.1	G	NM_024531		145584267	+1	no_errors	ENST00000329994	ensembl	human	known	70_37	missense	SNP	0.871	A
SLC9A4	389015	genome.wustl.edu	37	2	103095452	103095452	+	Silent	SNP	C	C	A	rs372447447		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:103095452C>A	ENST00000295269.4	+	2	868	c.411C>A	c.(409-411)ccC>ccA	p.P137P		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	137					epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.P137P(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TCCTGCCACCCATCGTTCTGG	0.612																																																	1	Substitution - coding silent(1)	cervix(1)											70.0	65.0	66.0					2																	103095452		2203	4300	6503	SO:0001819	synonymous_variant	389015				CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.411C>A	2.37:g.103095452C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YK0	Silent	SNP	pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger	p.P137	ENST00000295269.4	37	c.411	CCDS33264.1	2																																																																																			SLC9A4	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.612	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A4	HGNC	protein_coding	OTTHUMT00000329498.1	C	NM_001011552.3		103095452	+1	no_errors	ENST00000295269	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC9A5	6553	genome.wustl.edu	37	16	67288978	67288978	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67288978C>T	ENST00000299798.11	+	3	610	c.545C>T	c.(544-546)tCg>tTg	p.S182L	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	182					ion transport (GO:0006811)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.S182L(1)		breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGCCTCATCTCGGCGGTGGAC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											80.0	87.0	85.0					16																	67288978		2134	4273	6407	SO:0001583	missense	6553				CCDS42178.1	16q22.1	2013-05-22	2012-03-22		ENSG00000135740	ENSG00000135740		"""Solute carriers"""	11078	protein-coding gene	gene with protein product		600477	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 5"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 5"""			7759094, 9933642	Standard	NM_004594		Approved	NHE5	uc002esm.3	Q14940	OTTHUMG00000172935	ENST00000299798.11:c.545C>T	16.37:g.67288978C>T	ENSP00000299798:p.Ser182Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY7|Q9Y626	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.S182L	ENST00000299798.11	37	c.545	CCDS42178.1	16	.	.	.	.	.	.	.	.	.	.	C	19.59	3.856522	0.71834	.	.	ENSG00000135740	ENST00000299798	T	0.24723	1.84	5.93	5.93	0.95920	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.60753	0.2293	M	0.88181	2.935	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.66200	-0.5983	10	0.87932	D	0	.	19.3291	0.94278	0.0:1.0:0.0:0.0	.	182	Q14940	SL9A5_HUMAN	L	182	ENSP00000299798:S182L	ENSP00000299798:S182L	S	+	2	0	SLC9A5	65846479	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	7.818000	0.86416	2.814000	0.96858	0.655000	0.94253	TCG	SLC9A5	-	pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger		0.562	SLC9A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A5	HGNC	protein_coding	OTTHUMT00000421386.1	C			67288978	+1	no_errors	ENST00000299798	ensembl	human	known	70_37	missense	SNP	1.000	T
SLIT2	9353	genome.wustl.edu	37	4	20530646	20530646	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:20530646G>A	ENST00000504154.1	+	16	1789	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	SLIT2_ENST00000503837.1_Missense_Mutation_p.E509K|MIR218-1_ENST00000384999.1_RNA|SLIT2_ENST00000503823.1_Missense_Mutation_p.E505K|SLIT2_ENST00000273739.5_Missense_Mutation_p.E517K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	513	LRRNT 3.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.E513K(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGTCGCTGTGAAGGAACCAC	0.413																																																	1	Substitution - Missense(1)	cervix(1)											126.0	126.0	126.0					4																	20530646		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1537G>A	4.37:g.20530646G>A	ENSP00000422591:p.Glu513Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E513K	ENST00000504154.1	37	c.1537	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	G	20.0	3.929842	0.73327	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;D;D	0.96365	-3.99;-3.99;-3.99;-3.99	5.93	5.93	0.95920	Leucine-rich repeat-containing N-terminal (2);	0.000000	0.85682	D	0.000000	D	0.98232	0.9415	M	0.84585	2.705	0.80722	D	1	P;D	0.58620	0.9;0.983	B;D	0.65233	0.363;0.933	D	0.98190	1.0462	10	0.56958	D	0.05	.	20.3465	0.98790	0.0:0.0:1.0:0.0	.	505;513	O94813-3;O94813	.;SLIT2_HUMAN	K	505;513;517;509;509	ENSP00000427548:E505K;ENSP00000422591:E513K;ENSP00000273739:E517K;ENSP00000422261:E509K	ENSP00000273739:E517K	E	+	1	0	SLIT2	20139744	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.467000	0.97671	2.798000	0.96311	0.655000	0.94253	GAA	SLIT2	-	pfam_LRR-contain_N,smart_LRR-contain_N		0.413	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	G			20530646	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC9B2	133308	genome.wustl.edu	37	4	103979062	103979062	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:103979062C>T	ENST00000394785.3	-	4	969	c.338G>A	c.(337-339)gGa>gAa	p.G113E	SLC9B2_ENST00000503103.1_Intron|SLC9B2_ENST00000503230.1_Intron|SLC9B2_ENST00000339611.4_Missense_Mutation_p.G113E|SLC9B2_ENST00000362026.3_Missense_Mutation_p.G113E	NM_178833.4	NP_849155.2	Q86UD5	SL9B2_HUMAN	solute carrier family 9, subfamily B (NHA2, cation proton antiporter 2), member 2	113					ion transmembrane transport (GO:0034220)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	solute:proton antiporter activity (GO:0015299)	p.G113E(2)									AAATAGGTTTCCTCCAGGAAG	0.383																																																	2	Substitution - Missense(2)	cervix(2)											129.0	133.0	131.0					4																	103979062		2203	4300	6503	SO:0001583	missense	133308			AK172823	CCDS3662.1, CCDS75173.1, CCDS75174.1	4q24	2013-05-22	2012-03-22	2011-08-03	ENSG00000164038	ENSG00000164038		"""Solute carriers"""	25143	protein-coding gene	gene with protein product		611789	"""Na+/H+ exchanger domain containing 2"", ""solute carrier family 9, subfamily B (cation proton antiporter 2), member 2"""	NHEDC2		18600791	Standard	XM_005262758		Approved	FLJ23984, NHA2	uc003hwy.3	Q86UD5	OTTHUMG00000131125	ENST00000394785.3:c.338G>A	4.37:g.103979062C>T	ENSP00000378265:p.Gly113Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5ME52|Q6ZMD8|Q96D95	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.G113E	ENST00000394785.3	37	c.338	CCDS3662.1	4	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000462	0.93227	.	.	ENSG00000164038	ENST00000362026;ENST00000506288;ENST00000339611;ENST00000394785;ENST00000503818	T;T;T;T	0.35605	1.33;1.41;1.3;1.33	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.66567	0.2802	M	0.85945	2.785	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72261	-0.4345	10	0.87932	D	0	-19.6492	19.1728	0.93585	0.0:1.0:0.0:0.0	.	113	Q86UD5	SL9B2_HUMAN	E	113;13;113;113;113	ENSP00000354574:G113E;ENSP00000421943:G13E;ENSP00000345241:G113E;ENSP00000378265:G113E	ENSP00000345241:G113E	G	-	2	0	SLC9B2	104198511	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.887000	0.75616	2.587000	0.87381	0.591000	0.81541	GGA	SLC9B2	-	NULL		0.383	SLC9B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9B2	HGNC	protein_coding	OTTHUMT00000253805.1	C	NM_178833		103979062	-1	no_errors	ENST00000362026	ensembl	human	known	70_37	missense	SNP	1.000	T
SMC6	79677	genome.wustl.edu	37	2	17902454	17902454	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:17902454C>A	ENST00000448223.2	-	10	1070	c.801G>T	c.(799-801)atG>atT	p.M267I	SMC6_ENST00000402989.1_Missense_Mutation_p.M267I|SMC6_ENST00000351948.4_Missense_Mutation_p.M267I|SMC6_ENST00000381272.4_Missense_Mutation_p.M293I	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	267					cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|intracellular (GO:0005622)|nucleolus (GO:0005730)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)	p.M267I(1)		NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATTAGTCTTCATTGTACTTA	0.363																																																	1	Substitution - Missense(1)	cervix(1)											137.0	137.0	137.0					2																	17902454		2202	4300	6502	SO:0001583	missense	79677			AJ310551	CCDS1690.1	2p24.3	2008-02-05	2006-07-06	2006-07-06	ENSG00000163029	ENSG00000163029		"""Structural maintenance of chromosomes proteins"""	20466	protein-coding gene	gene with protein product		609387	"""SMC6 structural maintenance of chromosomes 6-like 1 (yeast)"""	SMC6L1		11230166	Standard	NM_024624		Approved	FLJ22116	uc002rcn.3	Q96SB8	OTTHUMG00000090675	ENST00000448223.2:c.801G>T	2.37:g.17902454C>A	ENSP00000404092:p.Met267Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Q6|D6W518|Q05BV4|Q9H0X3|Q9H6M0	Missense_Mutation	SNP	NULL	p.M293I	ENST00000448223.2	37	c.879	CCDS1690.1	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316680	0.81469	.	.	ENSG00000163029	ENST00000448223;ENST00000351948;ENST00000381272;ENST00000402989;ENST00000446852	T;T;T;T;T	0.05925	3.37;3.37;3.37;3.37;3.37	5.88	5.88	0.94601	RecF/RecN/SMC (1);	0.151077	0.64402	D	0.000001	T	0.12347	0.0300	L	0.36672	1.1	0.51482	D	0.999929	P;B;P	0.43352	0.589;0.232;0.804	B;B;P	0.52031	0.372;0.113;0.688	T	0.19353	-1.0308	10	0.10636	T	0.68	.	19.8265	0.96619	0.0:1.0:0.0:0.0	.	293;293;267	C9JMN1;Q96SB8-2;Q96SB8	.;.;SMC6_HUMAN	I	267;267;293;267;293	ENSP00000404092:M267I;ENSP00000323439:M267I;ENSP00000370672:M293I;ENSP00000384539:M267I;ENSP00000408644:M293I	ENSP00000323439:M267I	M	-	3	0	SMC6	17765935	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.505000	0.60421	2.789000	0.95967	0.591000	0.81541	ATG	SMC6	-	NULL		0.363	SMC6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC6	HGNC	protein_coding	OTTHUMT00000207359.1	C	NM_024624		17902454	-1	no_errors	ENST00000381272	ensembl	human	known	70_37	missense	SNP	1.000	A
SMCHD1	23347	genome.wustl.edu	37	18	2740770	2740770	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:2740770C>T	ENST00000320876.6	+	28	3922	c.3584C>T	c.(3583-3585)tCa>tTa	p.S1195L	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.S1195L	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1195					chromosome organization (GO:0051276)|inactivation of X chromosome by DNA methylation (GO:0060821)	Barr body (GO:0001740)	ATP binding (GO:0005524)	p.S1195L(2)|p.S643L(1)		NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TCTTCTTTGTCAATTGCTGGG	0.308																																																	3	Substitution - Missense(3)	cervix(3)											115.0	116.0	116.0					18																	2740770		1808	4055	5863	SO:0001583	missense	23347			AB014550	CCDS45822.1	18p11.32	2010-05-12			ENSG00000101596	ENSG00000101596			29090	protein-coding gene	gene with protein product		614982				9734811	Standard	NM_015295		Approved	KIAA0650	uc002klm.4	A6NHR9		ENST00000320876.6:c.3584C>T	18.37:g.2740770C>T	ENSP00000326603:p.Ser1195Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75141|Q6AHX6|Q6ZTQ8|Q9H6Q2|Q9UG39	Missense_Mutation	SNP	pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge	p.S1195L	ENST00000320876.6	37	c.3584	CCDS45822.1	18	.	.	.	.	.	.	.	.	.	.	C	14.61	2.588188	0.46110	.	.	ENSG00000101596	ENST00000320876;ENST00000261598	T;T	0.23147	1.92;1.92	5.33	2.47	0.30058	.	0.400420	0.27715	N	0.018156	T	0.20577	0.0495	L	0.27053	0.805	0.31414	N	0.675082	B	0.14438	0.01	B	0.12156	0.007	T	0.11036	-1.0604	10	0.66056	D	0.02	-0.9632	16.2196	0.82251	0.0:0.5603:0.4397:0.0	.	1195	A6NHR9	SMHD1_HUMAN	L	1195	ENSP00000326603:S1195L;ENSP00000261598:S1195L	ENSP00000261598:S1195L	S	+	2	0	SMCHD1	2730770	0.998000	0.40836	0.982000	0.44146	0.972000	0.66771	2.173000	0.42472	0.284000	0.22305	0.650000	0.86243	TCA	SMCHD1	-	NULL		0.308	SMCHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMCHD1	HGNC	protein_coding	OTTHUMT00000441082.2	C			2740770	+1	no_errors	ENST00000320876	ensembl	human	known	70_37	missense	SNP	0.999	T
SNAI1	6615	genome.wustl.edu	37	20	48604538	48604538	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:48604538G>C	ENST00000244050.2	+	3	801	c.740G>C	c.(739-741)cGa>cCa	p.R247P		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	247	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.R247P(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			ACCTTCTCCCGAATGTCCCTG	0.632																																																	1	Substitution - Missense(1)	cervix(1)											130.0	108.0	116.0					20																	48604538		2203	4300	6503	SO:0001583	missense	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.740G>C	20.37:g.48604538G>C	ENSP00000244050:p.Arg247Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R247P	ENST00000244050.2	37	c.740	CCDS13423.1	20	.	.	.	.	.	.	.	.	.	.	G	26.7	4.761947	0.89932	.	.	ENSG00000124216	ENST00000244050	T	0.19669	2.13	4.97	4.97	0.65823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.46308	0.1386	M	0.63169	1.94	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.44952	-0.9294	10	0.72032	D	0.01	-35.73	18.6122	0.91290	0.0:0.0:1.0:0.0	.	247	O95863	SNAI1_HUMAN	P	247	ENSP00000244050:R247P	ENSP00000244050:R247P	R	+	2	0	SNAI1	48037945	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.591000	0.82666	2.467000	0.83353	0.462000	0.41574	CGA	SNAI1	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.632	SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAI1	HGNC	protein_coding	OTTHUMT00000080350.1	G			48604538	+1	no_errors	ENST00000244050	ensembl	human	known	70_37	missense	SNP	1.000	C
CKAP5	9793	genome.wustl.edu	37	11	46783966	46783966	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:46783966G>A	ENST00000529230.1	-	31	4074				CKAP5_ENST00000312055.5_Intron|CKAP5_ENST00000354558.3_Intron|CKAP5_ENST00000415402.1_Intron|SNORD67_ENST00000390833.1_RNA			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5						centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CTGTGCACTTGATTTTGTCAC	0.453																																					Ovarian(4;85 273 2202 4844 13323)												0													316.0	282.0	293.0					11																	46783966		874	1990	2864	SO:0001627	intron_variant	692108				CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.4027+210C>T	11.37:g.46783966G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	RNA	SNP	-	NULL	ENST00000529230.1	37	NULL	CCDS31477.1	11																																																																																			SNORD67	-	-		0.453	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD67	HGNC	protein_coding	OTTHUMT00000390679.1	G	NM_014756		46783966	-1	no_errors	ENST00000390833	ensembl	human	known	70_37	rna	SNP	1.000	A
SORCS2	57537	genome.wustl.edu	37	4	7725534	7725534	+	Silent	SNP	C	C	T	rs370198948		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:7725534C>T	ENST00000507866.2	+	19	2644	c.2535C>T	c.(2533-2535)ccC>ccT	p.P845P	SORCS2_ENST00000329016.9_Silent_p.P673P	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	845	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	neuropeptide receptor activity (GO:0008188)	p.P695P(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGAGAGCCCCGGCATCTACC	0.592																																																	2	Substitution - coding silent(2)	cervix(1)|breast(1)						T		4,4118		0,4,2057	88.0	90.0	89.0		2535	-5.7	0.1	4		89	0,8378		0,0,4189	no	coding-synonymous	SORCS2	NM_020777.2		0,4,6246	TT,TC,CC		0.0,0.097,0.032		845/1160	7725534	4,12496	2061	4189	6250	SO:0001819	synonymous_variant	57537			AB037750	CCDS47008.1	4p16.1	2008-02-05			ENSG00000184985	ENSG00000184985			16698	protein-coding gene	gene with protein product		606284				11499680	Standard	NM_020777		Approved	KIAA1329	uc003gkb.4	Q96PQ0	OTTHUMG00000159981	ENST00000507866.2:c.2535C>T	4.37:g.7725534C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2L7	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom	p.P845	ENST00000507866.2	37	c.2535	CCDS47008.1	4																																																																																			SORCS2	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom		0.592	SORCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS2	HGNC	protein_coding	OTTHUMT00000358685.4	C	NM_020777		7725534	+1	no_errors	ENST00000507866	ensembl	human	known	70_37	silent	SNP	0.071	T
SORL1	6653	genome.wustl.edu	37	11	121491799	121491799	+	Silent	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:121491799C>G	ENST00000260197.7	+	44	6045	c.5916C>G	c.(5914-5916)ctC>ctG	p.L1972L	SORL1_ENST00000525532.1_Silent_p.L916L|SORL1_ENST00000534286.1_Silent_p.L882L|SORL1_ENST00000527934.1_Silent_p.L587L|SORL1_ENST00000532694.1_Silent_p.L818L	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1972	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.		L -> V (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)	p.L1972L(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCAAAGATCTCATAAGAAAGA	0.398																																																	1	Substitution - coding silent(1)	cervix(1)											96.0	89.0	91.0					11																	121491799		2202	4299	6501	SO:0001819	synonymous_variant	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.5916C>G	11.37:g.121491799C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX7|Q92856	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.L1972	ENST00000260197.7	37	c.5916	CCDS8436.1	11																																																																																			SORL1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	C	NM_003105		121491799	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	silent	SNP	0.021	G
SOX2	6657	genome.wustl.edu	37	3	181430620	181430620	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:181430620G>A	ENST00000325404.1	+	1	899	c.472G>A	c.(472-474)Gac>Aac	p.D158N	SOX2_ENST00000431565.2_Missense_Mutation_p.D158N	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	158					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.D158N(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			CCAGCGCATGGACAGTTACGC	0.716			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	1	Substitution - Missense(1)	cervix(1)											14.0	14.0	14.0					3																	181430620		2197	4296	6493	SO:0001583	missense	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.472G>A	3.37:g.181430620G>A	ENSP00000323588:p.Asp158Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14537	Missense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.D158N	ENST00000325404.1	37	c.472	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	G	26.3	4.727032	0.89390	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.88124	-2.34;-2.34	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	D	0.88713	0.6511	M	0.75447	2.3	0.80722	D	1	P	0.38250	0.624	B	0.40329	0.326	D	0.89341	0.3654	10	0.54805	T	0.06	.	18.2299	0.89931	0.0:0.0:1.0:0.0	.	158	P48431	SOX2_HUMAN	N	158	ENSP00000439111:D158N;ENSP00000323588:D158N	ENSP00000323588:D158N	D	+	1	0	SOX2	182913314	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.681000	0.98653	2.597000	0.87782	0.585000	0.79938	GAC	SOX2	-	pfam_TF_SOX		0.716	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	G	NM_003106		181430620	+1	no_errors	ENST00000325404	ensembl	human	known	70_37	missense	SNP	1.000	A
SP7	121340	genome.wustl.edu	37	12	53722969	53722969	+	Nonsense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:53722969G>C	ENST00000536324.2	-	3	540	c.257C>G	c.(256-258)tCa>tGa	p.S86*	SP7_ENST00000303846.3_Nonsense_Mutation_p.S86*|SP7_ENST00000537210.2_Nonsense_Mutation_p.S68*	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	86					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S86*(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						AGCATAGCCTGAGGTGGGTGC	0.572																																																	1	Substitution - Nonsense(1)	cervix(1)											179.0	181.0	180.0					12																	53722969		1999	4167	6166	SO:0001587	stop_gained	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.257C>G	12.37:g.53722969G>C	ENSP00000443827:p.Ser86*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY26|Q3MJ72|Q7Z718	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S86*	ENST00000536324.2	37	c.257	CCDS44897.1	12	.	.	.	.	.	.	.	.	.	.	G	16.15	3.042675	0.55003	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	.	.	.	3.85	3.85	0.44370	.	0.415458	0.22757	N	0.056010	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	.	15.725	0.77747	0.0:0.0:1.0:0.0	.	.	.	.	X	86;86;68;68	.	ENSP00000302812:S86X	S	-	2	0	SP7	52009236	0.352000	0.24895	0.993000	0.49108	0.644000	0.38419	3.376000	0.52417	2.441000	0.82636	0.313000	0.20887	TCA	SP7	-	NULL		0.572	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	G			53722969	-1	no_errors	ENST00000303846	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SP7	121340	genome.wustl.edu	37	12	53723062	53723062	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:53723062G>A	ENST00000536324.2	-	3	447	c.164C>T	c.(163-165)tCa>tTa	p.S55L	SP7_ENST00000303846.3_Missense_Mutation_p.S55L|SP7_ENST00000537210.2_Missense_Mutation_p.S37L	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	55					hematopoietic stem cell differentiation (GO:0060218)|osteoblast differentiation (GO:0001649)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S55L(1)		cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTTGGAGGCTGAAAGGTCACT	0.562																																																	1	Substitution - Missense(1)	cervix(1)											182.0	182.0	182.0					12																	53723062		2046	4202	6248	SO:0001583	missense	121340			AF477981	CCDS44897.1, CCDS73475.1	12q13.13	2013-01-08				ENSG00000170374		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	17321	protein-coding gene	gene with protein product		606633				11792318	Standard	NM_152860		Approved	osterix, OSX	uc001sct.3	Q8TDD2		ENST00000536324.2:c.164C>T	12.37:g.53723062G>A	ENSP00000443827:p.Ser55Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KY26|Q3MJ72|Q7Z718	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S55L	ENST00000536324.2	37	c.164	CCDS44897.1	12	.	.	.	.	.	.	.	.	.	.	G	10.37	1.332343	0.24167	.	.	ENSG00000170374	ENST00000536324;ENST00000303846;ENST00000537210;ENST00000547755	T;T;T;T	0.50277	3.16;3.16;3.09;0.75	3.85	3.85	0.44370	.	0.578960	0.17252	N	0.181124	T	0.40956	0.1138	L	0.32530	0.975	0.37041	D	0.897141	D	0.54601	0.967	P	0.50192	0.634	T	0.43343	-0.9397	10	0.48119	T	0.1	.	5.6262	0.17485	0.1069:0.2036:0.6895:0.0	.	55	Q8TDD2	SP7_HUMAN	L	55;55;37;37	ENSP00000443827:S55L;ENSP00000302812:S55L;ENSP00000441367:S37L;ENSP00000449355:S37L	ENSP00000302812:S55L	S	-	2	0	SP7	52009329	1.000000	0.71417	0.994000	0.49952	0.729000	0.41735	4.115000	0.57865	2.441000	0.82636	0.313000	0.20887	TCA	SP7	-	NULL		0.562	SP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SP7	HGNC	protein_coding	OTTHUMT00000406917.1	G			53723062	-1	no_errors	ENST00000303846	ensembl	human	known	70_37	missense	SNP	0.984	A
SPATA4	132851	genome.wustl.edu	37	4	177113837	177113837	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:177113837G>A	ENST00000280191.2	-	4	737	c.629C>T	c.(628-630)gCg>gTg	p.A210V	SPATA4_ENST00000515234.1_Missense_Mutation_p.A37V	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	210						cytoplasm (GO:0005737)		p.A210V(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GAGGAACTCCGCTTTAAGTTC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											87.0	90.0	89.0					4																	177113837		2203	4300	6503	SO:0001583	missense	132851			AY040204	CCDS3826.1	4q34.2	2008-02-05			ENSG00000150628	ENSG00000150628			17333	protein-coding gene	gene with protein product		609879					Standard	NM_144644		Approved	TSARG2, SPEF1B	uc003iuo.1	Q8NEY3	OTTHUMG00000160788	ENST00000280191.2:c.629C>T	4.37:g.177113837G>A	ENSP00000280191:p.Ala210Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NCS5|Q8WW15	Missense_Mutation	SNP	pfam_DUF1042,pfam_CAMSAP_CH,superfamily_CH-domain	p.A210V	ENST00000280191.2	37	c.629	CCDS3826.1	4	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.983672	0.00443	.	.	ENSG00000150628	ENST00000280191;ENST00000515234	T	0.20738	2.05	5.51	-1.42	0.08913	.	1.422770	0.04192	N	0.328496	T	0.06462	0.0166	N	0.00926	-1.1	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.35151	-0.9800	10	0.05959	T	0.93	-15.8955	9.2713	0.37673	0.5954:0.0:0.4046:0.0	.	210	Q8NEY3	SPAT4_HUMAN	V	210;37	ENSP00000280191:A210V	ENSP00000280191:A210V	A	-	2	0	SPATA4	177350831	0.006000	0.16342	0.009000	0.14445	0.054000	0.15201	0.170000	0.16663	-0.090000	0.12462	-0.290000	0.09829	GCG	SPATA4	-	pfam_DUF1042		0.378	SPATA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA4	HGNC	protein_coding	OTTHUMT00000362326.1	G	NM_144644		177113837	-1	no_errors	ENST00000280191	ensembl	human	known	70_37	missense	SNP	0.004	A
SRBD1	55133	genome.wustl.edu	37	2	45704134	45704134	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:45704134G>A	ENST00000263736.4	-	16	2109	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	SRBD1_ENST00000535761.1_Nonsense_Mutation_p.Q202*	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	683					nucleobase-containing compound metabolic process (GO:0006139)		hydrolase activity, acting on ester bonds (GO:0016788)|RNA binding (GO:0003723)	p.Q683*(1)		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)			AGCTTTACCTGATACATTCCA	0.383																																																	1	Substitution - Nonsense(1)	cervix(1)											124.0	104.0	111.0					2																	45704134		2203	4300	6503	SO:0001587	stop_gained	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.2047C>T	2.37:g.45704134G>A	ENSP00000263736:p.Gln683*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53T56|Q96TA4|Q9NW11	Nonsense_Mutation	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.Q683*	ENST00000263736.4	37	c.2047	CCDS1823.1	2	.	.	.	.	.	.	.	.	.	.	G	39	7.486589	0.98316	.	.	ENSG00000068784	ENST00000263736;ENST00000535761	.	.	.	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9731	0.92722	0.0:0.0:1.0:0.0	.	.	.	.	X	683;202	.	ENSP00000263736:Q683X	Q	-	1	0	SRBD1	45557638	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.336000	0.90033	2.720000	0.93068	0.591000	0.81541	CAG	SRBD1	-	NULL		0.383	SRBD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRBD1	HGNC	protein_coding	OTTHUMT00000250747.3	G	NM_018079		45704134	-1	no_errors	ENST00000263736	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SRCAP	10847	genome.wustl.edu	37	16	30721400	30721400	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30721400G>A	ENST00000262518.4	+	8	1470	c.1085G>A	c.(1084-1086)cGa>cAa	p.R362Q	SRCAP_ENST00000395059.2_Missense_Mutation_p.R362Q|SRCAP_ENST00000344771.4_Missense_Mutation_p.R362Q|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	362	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.R362Q(2)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGACACCCGAGATGGGCCT	0.582																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											42.0	41.0	41.0					16																	30721400		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1085G>A	16.37:g.30721400G>A	ENSP00000262518:p.Arg362Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.R362Q	ENST00000262518.4	37	c.1085	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	G	11.55	1.672773	0.29693	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.90444	-2.66;-2.67;-2.67	5.39	-2.95	0.05564	.	0.952302	0.08693	N	0.907651	T	0.78207	0.4247	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.62515	-0.6838	10	0.10111	T	0.7	1.2215	6.4017	0.21642	0.5721:0.1431:0.2848:0.0	.	362;362	Q6ZRS2-2;Q6ZRS2	.;SRCAP_HUMAN	Q	362	ENSP00000262518:R362Q;ENSP00000378499:R362Q;ENSP00000343042:R362Q	ENSP00000262518:R362Q	R	+	2	0	SRCAP	30628901	0.000000	0.05858	0.021000	0.16686	0.990000	0.78478	-0.156000	0.10100	-0.319000	0.08652	0.655000	0.94253	CGA	SRCAP	-	NULL		0.582	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	G	NM_006662		30721400	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.003	A
SRCAP	10847	genome.wustl.edu	37	16	30723240	30723240	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30723240C>T	ENST00000262518.4	+	12	1962	c.1577C>T	c.(1576-1578)tCt>tTt	p.S526F	SRCAP_ENST00000395059.2_Missense_Mutation_p.S526F|SRCAP_ENST00000344771.4_Missense_Mutation_p.S526F|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	526	Glu-rich.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.S526F(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCAGAGGAATCTGAGTCTGAA	0.483																																																	1	Substitution - Missense(1)	cervix(1)											83.0	82.0	82.0					16																	30723240		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1577C>T	16.37:g.30723240C>T	ENSP00000262518:p.Ser526Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.S526F	ENST00000262518.4	37	c.1577	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	9.308	1.054849	0.19907	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91577	-2.87;-2.84;-2.85	4.86	4.86	0.63082	.	0.000000	0.52532	D	0.000079	D	0.92143	0.7509	L	0.36672	1.1	0.39196	D	0.96306	D;D;D	0.69078	0.997;0.997;0.995	D;D;D	0.80764	0.994;0.994;0.986	D	0.92577	0.6071	10	0.54805	T	0.06	-15.384	13.6696	0.62416	0.0:1.0:0.0:0.0	.	526;526;526	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	F	526	ENSP00000262518:S526F;ENSP00000378499:S526F;ENSP00000343042:S526F	ENSP00000262518:S526F	S	+	2	0	SRCAP	30630741	0.912000	0.30974	0.997000	0.53966	0.745000	0.42441	1.918000	0.40006	2.675000	0.91044	0.563000	0.77884	TCT	SRCAP	-	NULL		0.483	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30723240	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	1.000	T
SRRM2	23524	genome.wustl.edu	37	16	2812813	2812813	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:2812813C>G	ENST00000301740.8	+	11	2833	c.2284C>G	c.(2284-2286)Ctc>Gtc	p.L762V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	762	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.L762F(1)|p.L762V(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCAGGTCTCTCTCTTCACC	0.483																																																	2	Substitution - Missense(2)	cervix(1)|kidney(1)											124.0	129.0	127.0					16																	2812813		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2284C>G	16.37:g.2812813C>G	ENSP00000301740:p.Leu762Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.L762V	ENST00000301740.8	37	c.2284	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	0.037	-1.304095	0.01353	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.25085	1.82	5.62	2.52	0.30459	.	0.369852	0.23316	N	0.049509	T	0.12774	0.0310	N	0.14661	0.345	0.27115	N	0.962287	B	0.06786	0.001	B	0.10450	0.005	T	0.31861	-0.9928	10	0.13108	T	0.6	-1.7338	9.417	0.38528	0.0:0.6315:0.2917:0.0768	.	762	Q9UQ35	SRRM2_HUMAN	V	762;762;14;727	ENSP00000301740:L762V	ENSP00000301740:L762V	L	+	1	0	SRRM2	2752814	0.576000	0.26700	0.936000	0.37596	0.492000	0.33523	0.207000	0.17395	0.284000	0.22305	-0.211000	0.12701	CTC	SRRM2	-	NULL		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2812813	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.996	G
SRCAP	10847	genome.wustl.edu	37	16	30723395	30723395	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:30723395C>G	ENST00000262518.4	+	12	2117	c.1732C>G	c.(1732-1734)Cta>Gta	p.L578V	SRCAP_ENST00000395059.2_Missense_Mutation_p.L578V|SRCAP_ENST00000344771.4_Missense_Mutation_p.L578V|SNORA30_ENST00000384028.1_RNA	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	578					histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)	p.L578V(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCCACTACTCTAGGTCCAAA	0.547																																																	1	Substitution - Missense(1)	cervix(1)											83.0	81.0	82.0					16																	30723395		2197	4300	6497	SO:0001583	missense	10847			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.1732C>G	16.37:g.30723395C>G	ENSP00000262518:p.Leu578Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA6|O15026|Q7Z744|Q9Y5L9	Missense_Mutation	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.L578V	ENST00000262518.4	37	c.1732	CCDS10689.2	16	.	.	.	.	.	.	.	.	.	.	C	7.092	0.572426	0.13623	.	.	ENSG00000080603	ENST00000262518;ENST00000395059;ENST00000344771	D;D;D	0.91011	-2.77;-2.74;-2.72	4.66	0.566	0.17317	.	0.000000	0.37857	N	0.001904	T	0.77377	0.4121	N	0.14661	0.345	0.29090	N	0.882162	B;B;B	0.33637	0.42;0.42;0.296	B;B;B	0.32289	0.09;0.143;0.068	T	0.68899	-0.5287	10	0.28530	T	0.3	-10.7101	6.3003	0.21109	0.0:0.5851:0.0:0.4149	.	578;578;578	Q6ZRS2-3;Q6ZRS2-2;Q6ZRS2	.;.;SRCAP_HUMAN	V	578	ENSP00000262518:L578V;ENSP00000378499:L578V;ENSP00000343042:L578V	ENSP00000262518:L578V	L	+	1	2	SRCAP	30630896	0.819000	0.29175	0.997000	0.53966	0.893000	0.52053	1.497000	0.35649	0.299000	0.22661	-0.251000	0.11542	CTA	SRCAP	-	NULL		0.547	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	C	NM_006662		30723395	+1	no_errors	ENST00000262518	ensembl	human	known	70_37	missense	SNP	0.985	G
ST3GAL5	8869	genome.wustl.edu	37	2	86075024	86075024	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:86075024C>T	ENST00000377332.3	-	4	730	c.622G>A	c.(622-624)Gaa>Aaa	p.E208K	ST3GAL5_ENST00000393808.3_Missense_Mutation_p.E185K|ST3GAL5_ENST00000393805.1_Missense_Mutation_p.E180K	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	208					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)	p.E208K(1)|p.E185K(1)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						TGGCCCAGTTCTAATCCGTGC	0.413																																																	2	Substitution - Missense(2)	cervix(2)											125.0	118.0	120.0					2																	86075024		2203	4300	6503	SO:0001583	missense	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.622G>A	2.37:g.86075024C>T	ENSP00000366549:p.Glu208Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.E208K	ENST00000377332.3	37	c.622	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	C	11.23	1.578555	0.28180	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332	T;T;T	0.27890	1.64;1.64;1.64	5.12	5.12	0.69794	.	0.321977	0.36374	N	0.002633	T	0.27900	0.0687	N	0.25485	0.75	0.80722	D	1	P;P;P	0.42010	0.51;0.768;0.51	B;B;B	0.43838	0.209;0.433;0.306	T	0.02220	-1.1193	10	0.22706	T	0.39	-3.7831	17.5419	0.87850	0.0:1.0:0.0:0.0	.	180;208;185	Q9UNP4-2;Q9UNP4;Q9UNP4-3	.;SIAT9_HUMAN;.	K	185;180;208	ENSP00000377397:E185K;ENSP00000377394:E180K;ENSP00000366549:E208K	ENSP00000366549:E208K	E	-	1	0	ST3GAL5	85928535	0.168000	0.22989	0.169000	0.22859	0.246000	0.25737	4.311000	0.59147	2.388000	0.81334	0.555000	0.69702	GAA	ST3GAL5	-	pfam_Glyco_trans_29,pirsf_Sialyl_trans		0.413	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	HGNC	protein_coding	OTTHUMT00000252486.1	C	NM_003896		86075024	-1	no_errors	ENST00000377332	ensembl	human	known	70_37	missense	SNP	0.431	T
STAG2	10735	genome.wustl.edu	37	X	123164963	123164963	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:123164963G>C	ENST00000371160.1	+	5	566	c.276G>C	c.(274-276)aaG>aaC	p.K92N	STAG2_ENST00000218089.9_Missense_Mutation_p.K92N|STAG2_ENST00000371145.3_Missense_Mutation_p.K92N|STAG2_ENST00000354548.5_Missense_Mutation_p.K23N|STAG2_ENST00000371157.3_Missense_Mutation_p.K92N|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Missense_Mutation_p.K92N	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	92					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)	p.K92N(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AAATGGGCAAGAGTGCTATGC	0.368																																																	2	Substitution - Missense(2)	cervix(2)											268.0	217.0	234.0					X																	123164963		2203	4300	6503	SO:0001583	missense	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.276G>C	X.37:g.123164963G>C	ENSP00000360202:p.Lys92Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.K92N	ENST00000371160.1	37	c.276	CCDS14607.1	X	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122415	0.77436	.	.	ENSG00000101972	ENST00000218089;ENST00000455404;ENST00000354548;ENST00000371160;ENST00000435103;ENST00000371157;ENST00000371145;ENST00000371144;ENST00000428941;ENST00000435215;ENST00000394478	T;T;T;T;T;T;T	0.49720	1.73;0.77;1.33;1.33;1.33;1.73;1.33	5.1	4.24	0.50183	.	0.103063	0.64402	D	0.000003	T	0.60919	0.2306	M	0.62016	1.91	0.80722	D	1	D;P	0.61697	0.99;0.955	P;P	0.61800	0.894;0.694	T	0.60616	-0.7228	9	.	.	.	-23.6061	12.8985	0.58113	0.0813:0.0:0.9187:0.0	.	92;92	Q8N3U4-2;Q8N3U4	.;STAG2_HUMAN	N	92;92;23;92;92;92;92;92;92;92;92	ENSP00000218089:K92N;ENSP00000397265:K92N;ENSP00000346555:K23N;ENSP00000360202:K92N;ENSP00000360199:K92N;ENSP00000360187:K92N;ENSP00000360186:K92N	.	K	+	3	2	STAG2	122992644	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.326000	0.72905	1.035000	0.39972	0.594000	0.82650	AAG	STAG2	-	NULL		0.368	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	STAG2	HGNC	protein_coding	OTTHUMT00000156159.2	G	NM_006603		123164963	+1	no_errors	ENST00000218089	ensembl	human	known	70_37	missense	SNP	1.000	C
STK10	6793	genome.wustl.edu	37	5	171481675	171481675	+	Missense_Mutation	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:171481675C>A	ENST00000176763.5	-	17	2893	c.2550G>T	c.(2548-2550)agG>agT	p.R850S		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	850	Gln-rich.				cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)	p.R850S(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGACTTCTGCCTCTTCTCCT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											136.0	128.0	131.0					5																	171481675		2203	4300	6503	SO:0001583	missense	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.2550G>T	5.37:g.171481675C>A	ENSP00000176763:p.Arg850Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	Missense_Mutation	SNP	pfam_PKK,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.R850S	ENST00000176763.5	37	c.2550	CCDS34290.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.10|19.10	3.762534|3.762534	0.69763|0.69763	.|.	.|.	ENSG00000072786|ENSG00000072786	ENST00000520476|ENST00000176763;ENST00000545839	.|T	.|0.34072	.|1.38	4.86|4.86	1.58|1.58	0.23477|0.23477	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.57695|0.57695	0.2071|0.2071	M|M	0.87456|0.87456	2.885|2.885	0.51767|0.51767	D|D	0.999935|0.999935	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.57539|0.57539	-0.7794|-0.7794	5|10	.|0.87932	.|D	.|0	.|.	5.6586|5.6586	0.17656|0.17656	0.0:0.5325:0.0:0.4675|0.0:0.5325:0.0:0.4675	.|.	.|850	.|O94804	.|STK10_HUMAN	V|S	123|850	.|ENSP00000176763:R850S	.|ENSP00000176763:R850S	G|R	-|-	2|3	0|2	STK10|STK10	171414280|171414280	0.702000|0.702000	0.27816|0.27816	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	-0.128000|-0.128000	0.10531|0.10531	0.578000|0.578000	0.29487|0.29487	0.561000|0.561000	0.74099|0.74099	GGC|AGG	STK10	-	pfam_PKK		0.637	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	C	NM_005990		171481675	-1	no_errors	ENST00000176763	ensembl	human	known	70_37	missense	SNP	1.000	A
STK10	6793	genome.wustl.edu	37	5	171533901	171533902	+	Intron	INS	-	-	GG	rs369573592		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:171533901_171533902insGG	ENST00000176763.5	-	6	937					NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10						cell cycle (GO:0007049)|lymphocyte aggregation (GO:0071593)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of lymphocyte migration (GO:2000401)|signal transduction by phosphorylation (GO:0023014)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|polo kinase kinase activity (GO:0042801)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGGCCACCACGAGCCACTGTC	0.554											OREG0017039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	6793			AB015718	CCDS34290.1	5q35.1	2008-07-18			ENSG00000072786	ENSG00000072786			11388	protein-coding gene	gene with protein product		603919				10199912	Standard	NM_005990		Approved	LOK, PRO2729	uc003mbo.1	O94804	OTTHUMG00000163265	ENST00000176763.5:c.594-83->CC	5.37:g.171533901_171533902insGG		Somatic	1893	WXS	Illumina HiSeq	Phase_IV	A6ND35|B2R8F5|B3KMY1|Q6NSK0|Q9UIW4	RNA	INS	-	NULL	ENST00000176763.5	37	NULL	CCDS34290.1	5																																																																																			STK10	-	-		0.554	STK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK10	HGNC	protein_coding	OTTHUMT00000372374.2	-	NM_005990		171533902	-1	no_errors	ENST00000517381	ensembl	human	putative	70_37	rna	INS	0.004:0.000	GG
SUPT6H	6830	genome.wustl.edu	37	17	27020847	27020847	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:27020847G>A	ENST00000314616.6	+	28	4050	c.3767G>A	c.(3766-3768)cGa>cAa	p.R1256Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R1256Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1256	Interaction with KDM6A. {ECO:0000250}.|S1 motif. {ECO:0000255|PROSITE- ProRule:PRU00180}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R1256Q(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CCAGAAGAACGAGTGAAGGTA	0.517																																																	1	Substitution - Missense(1)	cervix(1)											107.0	97.0	101.0					17																	27020847		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3767G>A	17.37:g.27020847G>A	ENSP00000319104:p.Arg1256Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.R1256Q	ENST00000314616.6	37	c.3767	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.775904	0.96922	.	.	ENSG00000109111	ENST00000314616	T	0.42131	0.98	5.83	5.83	0.93111	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);RNA-binding domain, S1 (1);Ribosomal protein S1, RNA-binding domain (2);	0.000000	0.85682	D	0.000000	T	0.69151	0.3079	M	0.85542	2.76	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64943	-0.6288	10	0.23302	T	0.38	-6.5144	20.1184	0.97949	0.0:0.0:1.0:0.0	.	1256	Q7KZ85	SPT6H_HUMAN	Q	1256	ENSP00000319104:R1256Q	ENSP00000319104:R1256Q	R	+	2	0	SUPT6H	24044974	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	9.121000	0.94375	2.769000	0.95229	0.655000	0.94253	CGA	SUPT6H	-	pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pirsf_TF_Spt6,pfscan_Rbsml_prot_S1_RNA-bd_dom		0.517	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	G	NM_003170		27020847	+1	no_errors	ENST00000314616	ensembl	human	known	70_37	missense	SNP	1.000	A
SYMPK	8189	genome.wustl.edu	37	19	46341781	46341781	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:46341781C>G	ENST00000245934.7	-	10	1424	c.1180G>C	c.(1180-1182)Gac>Cac	p.D394H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	394					cell adhesion (GO:0007155)|mRNA polyadenylation (GO:0006378)|positive regulation of protein dephosphorylation (GO:0035307)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)		p.D394H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATGTCCGTGTCTGACTGGCCG	0.617																																																	1	Substitution - Missense(1)	cervix(1)											81.0	64.0	70.0					19																	46341781		2203	4300	6503	SO:0001583	missense	8189			U49240	CCDS12676.2	19q13.3	2008-02-05			ENSG00000125755	ENSG00000125755			22935	protein-coding gene	gene with protein product		602388				9330635	Standard	NM_004819		Approved	SYM, SPK	uc002pdn.3	Q92797	OTTHUMG00000150151	ENST00000245934.7:c.1180G>C	19.37:g.46341781C>G	ENSP00000245934:p.Asp394His	Somatic		WXS	Illumina HiSeq	Phase_IV	O00521|O00689|O00733|Q59GT5|Q8N2U5	Missense_Mutation	SNP	pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold	p.D394H	ENST00000245934.7	37	c.1180	CCDS12676.2	19	.	.	.	.	.	.	.	.	.	.	C	18.53	3.644774	0.67358	.	.	ENSG00000125755	ENST00000245934	.	.	.	5.87	5.87	0.94306	Armadillo-type fold (1);	0.052645	0.85682	D	0.000000	T	0.44932	0.1317	N	0.22421	0.69	0.51482	D	0.999929	D;B	0.54601	0.967;0.291	B;B	0.43701	0.428;0.125	T	0.46190	-0.9209	9	0.54805	T	0.06	.	17.7724	0.88496	0.0:1.0:0.0:0.0	.	409;394	Q4LE61;Q92797	.;SYMPK_HUMAN	H	394	.	ENSP00000245934:D394H	D	-	1	0	SYMPK	51033621	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.827000	0.75303	2.798000	0.96311	0.650000	0.86243	GAC	SYMPK	-	superfamily_ARM-type_fold		0.617	SYMPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYMPK	HGNC	protein_coding	OTTHUMT00000316581.1	C	NM_004819		46341781	-1	no_errors	ENST00000245934	ensembl	human	known	70_37	missense	SNP	1.000	G
TCERG1L	256536	genome.wustl.edu	37	10	133106525	133106525	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:133106525G>A	ENST00000368642.4	-	3	704	c.619C>T	c.(619-621)Cct>Tct	p.P207S		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	207								p.P166S(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGGAGGCAGGAGCCGGCCTG	0.517																																																	1	Substitution - Missense(1)	cervix(1)											57.0	55.0	56.0					10																	133106525		2203	4300	6503	SO:0001583	missense	256536			AK096269	CCDS7662.2	10q26.3	2006-04-12			ENSG00000176769	ENSG00000176769			23533	protein-coding gene	gene with protein product							Standard	NM_174937		Approved	FLJ38950	uc001lkp.3	Q5VWI1	OTTHUMG00000019276	ENST00000368642.4:c.619C>T	10.37:g.133106525G>A	ENSP00000357631:p.Pro207Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWI2|Q86XM8	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP	p.P207S	ENST00000368642.4	37	c.619	CCDS7662.2	10	.	.	.	.	.	.	.	.	.	.	G	11.60	1.687216	0.29962	.	.	ENSG00000176769	ENST00000368642	T	0.25414	1.8	5.39	4.47	0.54385	.	0.227351	0.30383	N	0.009752	T	0.23965	0.0580	L	0.47716	1.5	0.29716	N	0.839028	P	0.48407	0.91	B	0.42462	0.388	T	0.13442	-1.0509	10	0.51188	T	0.08	-1.921	9.9601	0.41691	0.0:0.151:0.6925:0.1566	.	207	Q5VWI1	TCRGL_HUMAN	S	207	ENSP00000357631:P207S	ENSP00000357631:P207S	P	-	1	0	TCERG1L	132996515	0.996000	0.38824	0.049000	0.19019	0.451000	0.32288	0.957000	0.29215	1.257000	0.44085	0.467000	0.42956	CCT	TCERG1L	-	NULL		0.517	TCERG1L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCERG1L	HGNC	protein_coding	OTTHUMT00000091619.2	G	NM_174937		133106525	-1	no_errors	ENST00000368642	ensembl	human	known	70_37	missense	SNP	0.579	A
TCF21	6943	genome.wustl.edu	37	6	134210908	134210908	+	Missense_Mutation	SNP	T	T	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr6:134210908T>A	ENST00000367882.4	+	1	633	c.373T>A	c.(373-375)Tcc>Acc	p.S125T	TCF21_ENST00000237316.3_Missense_Mutation_p.S125T|RP3-323P13.2_ENST00000607641.1_RNA|RP3-323P13.2_ENST00000607573.1_RNA|RP3-323P13.2_ENST00000606544.1_RNA|RP3-323P13.2_ENST00000607033.1_RNA	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	125	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				branching involved in ureteric bud morphogenesis (GO:0001658)|branchiomeric skeletal muscle development (GO:0014707)|bronchiole development (GO:0060435)|diaphragm development (GO:0060539)|embryonic digestive tract morphogenesis (GO:0048557)|epithelial cell differentiation (GO:0030855)|gland development (GO:0048732)|glomerulus development (GO:0032835)|kidney development (GO:0001822)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|lung vasculature development (GO:0060426)|metanephric glomerular capillary formation (GO:0072277)|metanephric mesenchymal cell differentiation (GO:0072162)|morphogenesis of a branching structure (GO:0001763)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|reproductive structure development (GO:0048608)|respiratory system development (GO:0060541)|Sertoli cell differentiation (GO:0060008)|sex determination (GO:0007530)|spleen development (GO:0048536)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.S125T(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		CAGGCTGGCGTCCAGCTACAT	0.617																																																	1	Substitution - Missense(1)	cervix(1)											90.0	88.0	89.0					6																	134210908		2198	4298	6496	SO:0001583	missense	6943			AF047419	CCDS5167.1	6q23.2	2014-09-17			ENSG00000118526	ENSG00000118526		"""Basic helix-loop-helix proteins"""	11632	protein-coding gene	gene with protein product		603306				9507058	Standard	NM_198392		Approved	POD1, bHLHa23	uc003qei.4	O43680	OTTHUMG00000015608	ENST00000367882.4:c.373T>A	6.37:g.134210908T>A	ENSP00000356857:p.Ser125Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P581|O43545|Q6ICV0|Q9BZ14	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.S125T	ENST00000367882.4	37	c.373	CCDS5167.1	6	.	.	.	.	.	.	.	.	.	.	T	20.6	4.011206	0.75046	.	.	ENSG00000118526	ENST00000367882;ENST00000237316	D;D	0.97642	-4.47;-4.47	4.17	4.17	0.49024	Helix-loop-helix DNA-binding (5);	0.000000	0.85682	D	0.000000	D	0.90331	0.6975	N	0.02202	-0.64	0.80722	D	1	B	0.25486	0.127	B	0.44224	0.444	D	0.87651	0.2528	10	0.37606	T	0.19	-15.9479	13.5307	0.61621	0.0:0.0:0.0:1.0	.	125	O43680	TCF21_HUMAN	T	125	ENSP00000356857:S125T;ENSP00000237316:S125T	ENSP00000237316:S125T	S	+	1	0	TCF21	134252601	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.160000	0.71862	1.654000	0.50703	0.379000	0.24179	TCC	TCF21	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.617	TCF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCF21	HGNC	protein_coding	OTTHUMT00000042292.1	T	NM_198392		134210908	+1	no_errors	ENST00000237316	ensembl	human	known	70_37	missense	SNP	1.000	A
TCHP	84260	genome.wustl.edu	37	12	110345389	110345389	+	Missense_Mutation	SNP	G	G	A	rs140118187		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:110345389G>A	ENST00000312777.5	+	6	798	c.584G>A	c.(583-585)cGa>cAa	p.R195Q	TCHP_ENST00000405876.4_Missense_Mutation_p.R195Q	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding									p.R195Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAAAGGGCCCGAAGGGAGGCG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		21162	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	71.0	76.0	74.0		584,584	4.1	0.0	12	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	TCHP	NM_001143852.1,NM_032300.4	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	195/499,195/499	110345389	1,13005	2203	4300	6503	SO:0001583	missense	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.584G>A	12.37:g.110345389G>A	ENSP00000324404:p.Arg195Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R195Q	ENST00000312777.5	37	c.584	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	G	11.67	1.708995	0.30322	0.0	1.16E-4	ENSG00000139437	ENST00000405876;ENST00000536868;ENST00000312777	T;T	0.14766	2.48;2.48	4.95	4.07	0.47477	.	0.057379	0.64402	N	0.000003	T	0.34250	0.0891	M	0.81497	2.545	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.25152	-1.0140	10	0.15066	T	0.55	-11.2935	11.4287	0.50027	0.089:0.0:0.9109:0.0	.	195	Q9BT92	TCHP_HUMAN	Q	195	ENSP00000384520:R195Q;ENSP00000324404:R195Q	ENSP00000324404:R195Q	R	+	2	0	TCHP	108829772	0.864000	0.29904	0.007000	0.13788	0.153000	0.21895	4.374000	0.59543	1.109000	0.41680	-0.304000	0.09214	CGA	TCHP	-	NULL		0.517	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	G	NM_032300		110345389	+1	no_errors	ENST00000312777	ensembl	human	known	70_37	missense	SNP	0.124	A
TENM1	10178	genome.wustl.edu	37	X	123695634	123695634	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:123695634C>T	ENST00000371130.3	-	14	2384	c.2321G>A	c.(2320-2322)cGa>cAa	p.R774Q	TENM1_ENST00000422452.2_Missense_Mutation_p.R774Q	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	774	EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00076}.				immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R776Q(1)									CAGGGTACATCGTCCATTTCC	0.473																																																	1	Substitution - Missense(1)	cervix(1)											177.0	136.0	150.0					X																	123695634		2203	4300	6503	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2321G>A	X.37:g.123695634C>T	ENSP00000360171:p.Arg774Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Missense_Mutation	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.R774Q	ENST00000371130.3	37	c.2321	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	C	25.8	4.673483	0.88445	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	T;T	0.03413	3.94;3.94	5.39	5.39	0.77823	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	T	0.08670	0.0215	N	0.16266	0.395	0.80722	D	1	D;D;P	0.76494	0.999;0.997;0.771	D;P;B	0.72625	0.978;0.799;0.081	T	0.56329	-0.7997	10	0.19590	T	0.45	.	18.4118	0.90554	0.0:1.0:0.0:0.0	.	773;774;774	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	Q	774	ENSP00000360171:R774Q;ENSP00000403954:R774Q	ENSP00000360171:R774Q	R	-	2	0	ODZ1	123523315	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.772000	0.85439	2.376000	0.81061	0.594000	0.82650	CGA	TENM1	-	smart_EG-like_dom,pfscan_EG-like_dom		0.473	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	C	NM_014253		123695634	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	missense	SNP	0.999	T
TEX9	374618	genome.wustl.edu	37	15	56686955	56686955	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr15:56686955G>C	ENST00000352903.2	+	9	775	c.751G>C	c.(751-753)Gaa>Caa	p.E251Q	TEX9_ENST00000558083.2_Missense_Mutation_p.E176Q|TEX9_ENST00000561221.2_Missense_Mutation_p.E251Q|TEX9_ENST00000537232.1_Missense_Mutation_p.E176Q|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000560582.1_Missense_Mutation_p.E7Q	NM_198524.1	NP_940926.1	Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303																																																	1	Substitution - Missense(1)	cervix(1)											46.0	50.0	49.0					15																	56686955		2192	4284	6476	SO:0001583	missense	374618			BC028119	CCDS10157.1, CCDS66776.1	15q21.3	2007-03-13	2007-03-13		ENSG00000151575	ENSG00000151575			29585	protein-coding gene	gene with protein product			"""testis expressed sequence 9"""				Standard	XM_005254361		Approved		uc002adp.3	Q8N6V9	OTTHUMG00000132035	ENST00000352903.2:c.751G>C	15.37:g.56686955G>C	ENSP00000342169:p.Glu251Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH73	Missense_Mutation	SNP	NULL	p.E251Q	ENST00000352903.2	37	c.751	CCDS10157.1	15	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088715	0.76756	.	.	ENSG00000151575	ENST00000352903;ENST00000537232	T;T	0.80566	-1.39;-1.39	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	D	0.90277	0.6959	M	0.82323	2.585	0.58432	D	0.99999	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.992	D	0.91114	0.4924	10	0.56958	D	0.05	-28.4564	17.4112	0.87486	0.0:0.0:1.0:0.0	.	176;251	B4DH73;Q8N6V9	.;TEX9_HUMAN	Q	251;176	ENSP00000342169:E251Q;ENSP00000438745:E176Q	ENSP00000342169:E251Q	E	+	1	0	TEX9	54474247	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	7.535000	0.82014	2.453000	0.82957	0.591000	0.81541	GAA	TEX9	-	NULL		0.303	TEX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX9	HGNC	protein_coding	OTTHUMT00000255048.2	G	NM_198524		56686955	+1	no_errors	ENST00000352903	ensembl	human	known	70_37	missense	SNP	1.000	C
TLE4	7091	genome.wustl.edu	37	9	82308552	82308552	+	Intron	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr9:82308552G>A	ENST00000376552.2	+	9	1627				TLE4_ENST00000376544.3_Missense_Mutation_p.R199K|TLE4_ENST00000376534.4_Intron|TLE4_ENST00000376537.4_Intron|TLE4_ENST00000265284.6_Intron|TLE4_ENST00000376520.4_Missense_Mutation_p.R199K	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGGAAAGAGAGAGACAAACTC	0.433																																																	0													93.0	87.0	89.0					9																	82308552		876	1991	2867	SO:0001627	intron_variant	7091			M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.610-11146G>A	9.37:g.82308552G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance	p.R199K	ENST00000376552.2	37	c.596	CCDS43837.1	9	.	.	.	.	.	.	.	.	.	.	G	3.024	-0.201165	0.06219	.	.	ENSG00000106829	ENST00000376544;ENST00000376520	T;T	0.46063	0.88;0.94	3.89	1.92	0.25849	.	0.817135	0.11120	N	0.597548	T	0.18718	0.0449	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.17228	-1.0376	7	0.06365	T	0.9	.	9.8759	0.41202	0.0:0.4098:0.5902:0.0	.	.	.	.	K	199	ENSP00000365727:R199K;ENSP00000365703:R199K	ENSP00000365703:R199K	R	+	2	0	TLE4	81498372	0.000000	0.05858	0.001000	0.08648	0.127000	0.20565	0.134000	0.15932	0.536000	0.28733	0.650000	0.86243	AGA	TLE4	-	NULL		0.433	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	TLE4	HGNC	protein_coding	OTTHUMT00000052792.4	G	XM_212237		82308552	+1	no_errors	ENST00000376520	ensembl	human	known	70_37	missense	SNP	0.001	A
TLR8	51311	genome.wustl.edu	37	X	12939946	12939946	+	Silent	SNP	C	C	T	rs5744084	byFrequency	TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:12939946C>T	ENST00000218032.6	+	2	2874	c.2787C>T	c.(2785-2787)atC>atT	p.I929I	TLR8_ENST00000311912.5_Silent_p.I947I	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	929	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	TGGCCATCATCGACAACCTCA	0.428																																																	0													73.0	75.0	74.0					X																	12939946		2203	4300	6503	SO:0001819	synonymous_variant	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.2787C>T	X.37:g.12939946C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Silent	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.I929	ENST00000218032.6	37	c.2787	CCDS14152.1	X																																																																																			TLR8	-	pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom		0.428	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	C	NM_016610		12939946	+1	no_errors	ENST00000218032	ensembl	human	known	70_37	silent	SNP	0.739	T
TMC2	117532	genome.wustl.edu	37	20	2594061	2594061	+	Intron	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr20:2594061C>G	ENST00000358864.1	+	14	1887				TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2						detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CATTTCATTTCTTTGGAAGCT	0.383																																																	0																																										SO:0001627	intron_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.1872+93C>G	20.37:g.2594061C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	RNA	SNP	-	NULL	ENST00000358864.1	37	NULL	CCDS13029.2	20																																																																																			TMC2	-	-		0.383	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2594061	+1	no_errors	ENST00000496948	ensembl	human	known	70_37	rna	SNP	0.001	G
TMEM104	54868	genome.wustl.edu	37	17	72832424	72832424	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:72832424C>T	ENST00000335464.5	+	10	1251	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Silent_p.F363F	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	363						integral component of membrane (GO:0016021)		p.F363F(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCCCCGTCTTCACCATCAGCA	0.632																																																	1	Substitution - coding silent(1)	cervix(1)											245.0	204.0	218.0					17																	72832424		2203	4300	6503	SO:0001819	synonymous_variant	54868			AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1089C>T	17.37:g.72832424C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEU1|Q9NT56|Q9NXH1	Silent	SNP	pfam_AA_transpt_TM	p.F363	ENST00000335464.5	37	c.1089	CCDS32723.1	17																																																																																			TMEM104	-	pfam_AA_transpt_TM		0.632	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM104	HGNC	protein_coding	OTTHUMT00000444442.1	C	NM_017728		72832424	+1	no_errors	ENST00000335464	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM132C	92293	genome.wustl.edu	37	12	128899683	128899683	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:128899683G>A	ENST00000435159.2	+	2	492	c.492G>A	c.(490-492)ggG>ggA	p.G164G		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	164						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						ACGGCGCCGGGGAGAAGCTGC	0.612																																																	0													14.0	17.0	16.0					12																	128899683		692	1591	2283	SO:0001819	synonymous_variant	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.492G>A	12.37:g.128899683G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YX8	Silent	SNP	NULL	p.G164	ENST00000435159.2	37	c.492		12																																																																																			TMEM132C	-	NULL		0.612	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		G	XM_044062		128899683	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	silent	SNP	0.000	A
TMEM51	55092	genome.wustl.edu	37	1	15541908	15541908	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:15541908C>G	ENST00000428417.1	+	2	771	c.325C>G	c.(325-327)Cac>Gac	p.H109D	TMEM51_ENST00000376014.3_Missense_Mutation_p.H109D|TMEM51_ENST00000434578.2_Missense_Mutation_p.H109D|TMEM51_ENST00000400796.3_Missense_Mutation_p.H109D|TMEM51_ENST00000376008.2_Missense_Mutation_p.H109D	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	109						integral component of membrane (GO:0016021)		p.H109D(1)		breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CGCTGGGCCTCACGCCCAGGA	0.632																																																	1	Substitution - Missense(1)	cervix(1)											26.0	23.0	24.0					1																	15541908		2201	4298	6499	SO:0001583	missense	55092			AK098467	CCDS154.1	1p36.21	2008-02-05	2005-05-22	2005-05-22	ENSG00000171729	ENSG00000171729			25488	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 72"""	C1orf72		12477932	Standard	NM_018022		Approved	FLJ10199	uc001avx.3	Q9NW97	OTTHUMG00000002046	ENST00000428417.1:c.325C>G	1.37:g.15541908C>G	ENSP00000394899:p.His109Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K819	Missense_Mutation	SNP	NULL	p.H109D	ENST00000428417.1	37	c.325	CCDS154.1	1	.	.	.	.	.	.	.	.	.	.	C	2.910	-0.225499	0.06022	.	.	ENSG00000171729	ENST00000428417;ENST00000376014;ENST00000451326;ENST00000434578;ENST00000400796;ENST00000376008;ENST00000303840	T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59	5.25	5.25	0.73442	.	1.366400	0.03980	N	0.293048	T	0.25494	0.0620	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.08055	0.002;0.003	T	0.07539	-1.0767	10	0.36615	T	0.2	-11.4259	9.309	0.37891	0.0:0.8974:0.0:0.1026	.	109;109	Q9BSA0;Q9NW97	.;TMM51_HUMAN	D	109	ENSP00000394899:H109D;ENSP00000365182:H109D;ENSP00000412298:H109D;ENSP00000409665:H109D;ENSP00000383600:H109D;ENSP00000365176:H109D	ENSP00000303666:H109D	H	+	1	0	TMEM51	15414495	0.013000	0.17824	0.004000	0.12327	0.062000	0.15995	2.562000	0.45914	2.462000	0.83206	0.655000	0.94253	CAC	TMEM51	-	NULL		0.632	TMEM51-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM51	HGNC	protein_coding	OTTHUMT00000005699.3	C	NM_018022		15541908	+1	no_errors	ENST00000376008	ensembl	human	known	70_37	missense	SNP	0.002	G
TNIK	23043	genome.wustl.edu	37	3	170858220	170858220	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:170858220C>T	ENST00000436636.2	-	13	1644	c.1300G>A	c.(1300-1302)Gag>Aag	p.E434K	TNIK_ENST00000470834.1_Missense_Mutation_p.E434K|TNIK_ENST00000369326.5_Missense_Mutation_p.E434K|TNIK_ENST00000284483.8_Missense_Mutation_p.E434K|TNIK_ENST00000475336.1_Missense_Mutation_p.E434K|TNIK_ENST00000460047.1_Missense_Mutation_p.E434K|TNIK_ENST00000488470.1_Missense_Mutation_p.E434K|TNIK_ENST00000357327.5_Missense_Mutation_p.E434K|TNIK_ENST00000341852.6_Missense_Mutation_p.E434K|TNIK_ENST00000538048.1_Missense_Mutation_p.E434K	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	434	Mediates interaction with NEDD4.				actin cytoskeleton reorganization (GO:0031532)|activation of JNKK activity (GO:0007256)|cytoskeleton organization (GO:0007010)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite morphogenesis (GO:0048814)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)	p.E434K(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCTCCTCCTCCCGGCGCATC	0.652																																																	2	Substitution - Missense(2)	cervix(2)											96.0	106.0	103.0					3																	170858220		2062	4193	6255	SO:0001583	missense	23043			AF172264	CCDS46956.1, CCDS54673.1, CCDS54674.1, CCDS54675.1, CCDS54676.1, CCDS54677.1, CCDS54678.1, CCDS54679.1	3q26.31	2008-01-23			ENSG00000154310	ENSG00000154310			30765	protein-coding gene	gene with protein product		610005				9628581, 10521462	Standard	NR_027767		Approved	KIAA0551	uc003fhh.2	Q9UKE5	OTTHUMG00000159036	ENST00000436636.2:c.1300G>A	3.37:g.170858220C>T	ENSP00000399511:p.Glu434Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2A3|A8K4U1|D3DNQ6|O60298|Q8WUY7|Q9UKD8|Q9UKD9|Q9UKE0|Q9UKE1|Q9UKE2|Q9UKE3|Q9UKE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.E434K	ENST00000436636.2	37	c.1300	CCDS46956.1	3	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474493	0.84640	.	.	ENSG00000154310	ENST00000436636;ENST00000369326;ENST00000538048;ENST00000341852;ENST00000284483;ENST00000475336;ENST00000357327;ENST00000460047;ENST00000488470;ENST00000470834	T;T;T;T;T;T;T;T;T;T	0.44881	0.91;1.0;0.91;1.0;0.91;1.0;1.0;0.91;0.91;1.0	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.49287	0.1548	M	0.76170	2.325	0.80722	D	1	P;P;P;P;P;P;P;P	0.41784	0.762;0.762;0.762;0.762;0.762;0.762;0.762;0.649	B;B;B;B;B;B;B;B	0.42555	0.391;0.391;0.391;0.391;0.391;0.391;0.391;0.219	T	0.44877	-0.9299	10	0.18710	T	0.47	.	19.1249	0.93378	0.0:1.0:0.0:0.0	.	434;434;434;434;434;434;434;434	Q9UKE5-8;Q9UKE5-6;Q9UKE5-7;Q9UKE5-5;Q9UKE5-4;Q9UKE5-2;Q9UKE5-3;Q9UKE5	.;.;.;.;.;.;.;TNIK_HUMAN	K	434	ENSP00000399511:E434K;ENSP00000358332:E434K;ENSP00000443278:E434K;ENSP00000345352:E434K;ENSP00000284483:E434K;ENSP00000418156:E434K;ENSP00000349880:E434K;ENSP00000418916:E434K;ENSP00000418378:E434K;ENSP00000419990:E434K	ENSP00000284483:E434K	E	-	1	0	TNIK	172340914	1.000000	0.71417	1.000000	0.80357	0.772000	0.43724	7.614000	0.82996	2.608000	0.88229	0.650000	0.86243	GAG	TNIK	-	NULL		0.652	TNIK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNIK	HGNC	protein_coding	OTTHUMT00000352973.2	C	XM_039796		170858220	-1	no_errors	ENST00000436636	ensembl	human	known	70_37	missense	SNP	1.000	T
TNRC6A	27327	genome.wustl.edu	37	16	24831599	24831599	+	Missense_Mutation	SNP	G	G	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:24831599G>T	ENST00000395799.3	+	22	5349	c.5220G>T	c.(5218-5220)caG>caT	p.Q1740H	TNRC6A_ENST00000432286.2_Missense_Mutation_p.Q218H|TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q1691H|CTD-2515A14.1_ENST00000568895.1_RNA	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1740	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.Q1740H(1)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGACTGGTCAGAAGCCACCCT	0.532																																																	1	Substitution - Missense(1)	cervix(1)											119.0	114.0	116.0					16																	24831599		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5220G>T	16.37:g.24831599G>T	ENSP00000379144:p.Gln1740His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.Q1740H	ENST00000395799.3	37	c.5220	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.6|23.6	4.437567|4.437567	0.83885|0.83885	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000450465|ENST00000315183;ENST00000395799;ENST00000432286	.|T;T	.|0.13196	.|2.62;2.61	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.34890	.|0.0913	L|L	0.50333|0.50333	1.59|1.59	0.58432|0.58432	D|D	0.999996|0.999996	.|D;D	.|0.89917	.|1.0;0.998	.|D;D	.|0.85130	.|0.997;0.993	.|T	.|0.00451	.|-1.1731	.|10	.|0.45353	.|T	.|0.12	-4.6794|-4.6794	20.04|20.04	0.97581|0.97581	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1691;1740	.|Q8NDV7-6;Q8NDV7	.|.;TNR6A_HUMAN	X|H	631|1691;1740;218	.|ENSP00000326900:Q1691H;ENSP00000379144:Q1740H	.|ENSP00000326900:Q1691H	E|Q	+|+	1|3	0|2	TNRC6A|TNRC6A	24739100|24739100	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.285000|5.285000	0.65633|0.65633	2.733000|2.733000	0.93635|0.93635	0.655000|0.655000	0.94253|0.94253	GAA|CAG	TNRC6A	-	NULL		0.532	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	G	NM_020847		24831599	+1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	T
TRAF5	7188	genome.wustl.edu	37	1	211545904	211545904	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:211545904G>C	ENST00000261464.5	+	11	1588	c.1534G>C	c.(1534-1536)Gat>Cat	p.D512H	TRAF5_ENST00000336184.2_Missense_Mutation_p.D512H|TRAF5_ENST00000367004.3_Missense_Mutation_p.D512H|TRAF5_ENST00000427925.2_Missense_Mutation_p.D406H	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	512	Interaction with EIF2AK2/PKR.|MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				apoptotic process (GO:0006915)|positive regulation of cell proliferation (GO:0008284)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)	CD40 receptor complex (GO:0035631)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)	signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.D512H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TAAAAGACCTGATGGGGAGAT	0.478																																																	1	Substitution - Missense(1)	cervix(1)											79.0	74.0	76.0					1																	211545904		2203	4300	6503	SO:0001583	missense	7188			AB000509	CCDS1497.1	1q32	2008-02-05			ENSG00000082512	ENSG00000082512		"""RING-type (C3HC4) zinc fingers"""	12035	protein-coding gene	gene with protein product		602356				9126477	Standard	NM_001033910		Approved	RNF84	uc001hii.3	O00463	OTTHUMG00000036997	ENST00000261464.5:c.1534G>C	1.37:g.211545904G>C	ENSP00000261464:p.Asp512His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIS9|B4E0A2|Q6FHY1	Missense_Mutation	SNP	pfam_MATH,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF	p.D512H	ENST00000261464.5	37	c.1534	CCDS1497.1	1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241397	0.58995	.	.	ENSG00000082512	ENST00000336184;ENST00000427925;ENST00000261464;ENST00000367004	T;T;T;T	0.41400	1.0;1.0;1.0;1.0	5.51	4.59	0.56863	TRAF-type (1);TRAF-like (1);MATH (3);	0.306398	0.35349	N	0.003271	T	0.51601	0.1684	L	0.29908	0.895	0.28312	N	0.922623	D;D;D	0.89917	1.0;0.997;0.999	D;D;D	0.73380	0.98;0.93;0.966	T	0.51132	-0.8744	10	0.62326	D	0.03	-7.0287	14.2832	0.66226	0.0714:0.0:0.9286:0.0	.	406;523;512	F5H1P7;B4E0A2;O00463	.;.;TRAF5_HUMAN	H	512;406;512;512	ENSP00000336825:D512H;ENSP00000389891:D406H;ENSP00000261464:D512H;ENSP00000355971:D512H	ENSP00000261464:D512H	D	+	1	0	TRAF5	209612527	0.999000	0.42202	0.446000	0.26920	0.997000	0.91878	4.536000	0.60636	1.454000	0.47793	0.650000	0.86243	GAT	TRAF5	-	pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH		0.478	TRAF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAF5	HGNC	protein_coding	OTTHUMT00000089825.1	G	NM_004619		211545904	+1	no_errors	ENST00000261464	ensembl	human	known	70_37	missense	SNP	0.348	C
TRIM42	287015	genome.wustl.edu	37	3	140401568	140401568	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:140401568G>C	ENST00000286349.3	+	2	797	c.606G>C	c.(604-606)aaG>aaC	p.K202N		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	202						intracellular (GO:0005622)	zinc ion binding (GO:0008270)	p.K202N(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						ACAGCAACAAGATGCAGCTGC	0.627																																																	1	Substitution - Missense(1)	cervix(1)											85.0	81.0	82.0					3																	140401568		2203	4300	6503	SO:0001583	missense	287015			AF521868	CCDS3113.1	3q23	2014-02-17	2011-01-25		ENSG00000155890	ENSG00000155890		"""Tripartite motif containing / Tripartite motif containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	19014	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 40"""		"""tripartite motif-containing 42"""				Standard	NM_152616		Approved	FLJ40097, PPP1R40	uc003eto.2	Q8IWZ5	OTTHUMG00000160170	ENST00000286349.3:c.606G>C	3.37:g.140401568G>C	ENSP00000286349:p.Lys202Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4B4|Q8N832|Q8NDL3	Missense_Mutation	SNP	pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING	p.K202N	ENST00000286349.3	37	c.606	CCDS3113.1	3	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157900	0.38119	.	.	ENSG00000155890	ENST00000286349	T	0.38240	1.15	5.2	4.31	0.51392	Zinc finger, RING/FYVE/PHD-type (1);	0.301709	0.28317	N	0.015797	T	0.31513	0.0799	L	0.50333	1.59	0.28733	N	0.902374	B	0.28128	0.201	B	0.26969	0.075	T	0.23619	-1.0183	10	0.45353	T	0.12	-29.8985	10.0076	0.41965	0.0954:0.0:0.9046:0.0	.	202	Q8IWZ5	TRI42_HUMAN	N	202	ENSP00000286349:K202N	ENSP00000286349:K202N	K	+	3	2	TRIM42	141884258	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	3.052000	0.49893	1.173000	0.42796	0.561000	0.74099	AAG	TRIM42	-	NULL		0.627	TRIM42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM42	HGNC	protein_coding	OTTHUMT00000359531.2	G	NM_152616		140401568	+1	no_errors	ENST00000286349	ensembl	human	known	70_37	missense	SNP	1.000	C
TRO	7216	genome.wustl.edu	37	X	54950197	54950197	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:54950197G>A	ENST00000173898.7	+	3	1344	c.1232G>A	c.(1231-1233)cGa>cAa	p.R411Q	TRO_ENST00000399736.1_Intron|TRO_ENST00000484031.1_Intron|TRO_ENST00000420798.2_Intron|TRO_ENST00000319167.8_Missense_Mutation_p.R411Q|TRO_ENST00000375022.4_Missense_Mutation_p.R411Q|TRO_ENST00000375041.2_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	411					embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.R411Q(2)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAAAGAAACCGAAAGGTGAGA	0.468																																																	2	Substitution - Missense(2)	cervix(2)											33.0	42.0	39.0					X																	54950197		1894	4118	6012	SO:0001583	missense	7216			U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1232G>A	X.37:g.54950197G>A	ENSP00000173898:p.Arg411Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.R411Q	ENST00000173898.7	37	c.1232	CCDS43959.1	X	.	.	.	.	.	.	.	.	.	.	G	11.38	1.620302	0.28801	.	.	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022	T;T;T	0.52983	0.64;0.64;0.64	2.7	0.747	0.18371	.	.	.	.	.	T	0.24470	0.0593	N	0.19112	0.55	0.80722	D	1	B;B	0.26547	0.152;0.122	B;B	0.18263	0.021;0.015	T	0.05146	-1.0903	8	.	.	.	.	4.5173	0.11940	0.3621:0.0:0.6379:0.0	.	411;411	Q96SX2;Q12816	.;TROP_HUMAN	Q	411	ENSP00000173898:R411Q;ENSP00000318278:R411Q;ENSP00000364162:R411Q	.	R	+	2	0	TRO	54966922	0.047000	0.20315	0.997000	0.53966	0.884000	0.51177	-0.525000	0.06214	0.056000	0.16144	0.509000	0.49947	CGA	TRO	-	NULL		0.468	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRO	HGNC	protein_coding	OTTHUMT00000056837.3	G	NM_016157		54950197	+1	no_errors	ENST00000173898	ensembl	human	known	70_37	missense	SNP	0.997	A
TSPAN8	7103	genome.wustl.edu	37	12	71526553	71526553	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr12:71526553G>C	ENST00000393330.2	-	10	1048	c.496C>G	c.(496-498)Caa>Gaa	p.Q166E	TSPAN8_ENST00000546561.1_Missense_Mutation_p.Q166E|TSPAN8_ENST00000552128.1_Missense_Mutation_p.Q83E|TSPAN8_ENST00000247829.3_Missense_Mutation_p.Q166E			P19075	TSN8_HUMAN	tetraspanin 8	166					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.Q166E(1)		breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GGATAGTGTTGAAAATTATTT	0.358																																																	1	Substitution - Missense(1)	cervix(1)											193.0	174.0	181.0					12																	71526553		2203	4300	6503	SO:0001583	missense	7103			M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.496C>G	12.37:g.71526553G>C	ENSP00000377003:p.Gln166Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7T7|Q9BS78	Missense_Mutation	SNP	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin	p.Q166E	ENST00000393330.2	37	c.496	CCDS8999.1	12	.	.	.	.	.	.	.	.	.	.	G	0.858	-0.736349	0.03111	.	.	ENSG00000127324	ENST00000393330;ENST00000247829;ENST00000546561;ENST00000552128	D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12	5.65	-8.17	0.01057	Tetraspanin, EC2 domain (1);	.	.	.	.	T	0.75939	0.3918	L	0.36672	1.1	0.09310	N	1	B	0.12630	0.006	B	0.08055	0.003	T	0.64846	-0.6311	9	0.02654	T	1	.	16.5188	0.84308	0.0:0.6184:0.2269:0.1547	.	166	P19075	TSN8_HUMAN	E	166;166;166;83	ENSP00000377003:Q166E;ENSP00000247829:Q166E;ENSP00000447160:Q166E;ENSP00000449820:Q83E	ENSP00000247829:Q166E	Q	-	1	0	TSPAN8	69812820	0.435000	0.25577	0.002000	0.10522	0.096000	0.18686	0.882000	0.28186	-1.055000	0.03209	-0.282000	0.10007	CAA	TSPAN8	-	pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2		0.358	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN8	HGNC	protein_coding	OTTHUMT00000404737.1	G	NM_004616		71526553	-1	no_errors	ENST00000247829	ensembl	human	known	70_37	missense	SNP	0.000	C
TSPYL5	85453	genome.wustl.edu	37	8	98289988	98289988	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:98289988G>C	ENST00000322128.3	-	1	188	c.85C>G	c.(85-87)Ccg>Gcg	p.P29A		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	29					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)		p.P29A(1)		cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GCGTCGTCCGGAGCAGGGCGG	0.716																																																	1	Substitution - Missense(1)	cervix(1)											9.0	10.0	10.0					8																	98289988		2137	4153	6290	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.85C>G	8.37:g.98289988G>C	ENSP00000322802:p.Pro29Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.P29A	ENST00000322128.3	37	c.85	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	G	9.927	1.213694	0.22289	.	.	ENSG00000180543	ENST00000322128	T	0.26373	1.74	3.82	0.821	0.18799	.	0.445392	0.16719	N	0.202333	T	0.13500	0.0327	N	0.25332	0.735	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.30475	-0.9977	10	0.16896	T	0.51	-4.5676	5.7418	0.18098	0.1142:0.4088:0.477:0.0	.	29	Q86VY4	TSYL5_HUMAN	A	29	ENSP00000322802:P29A	ENSP00000322802:P29A	P	-	1	0	TSPYL5	98359164	0.551000	0.26497	0.007000	0.13788	0.566000	0.35808	0.592000	0.23984	0.154000	0.19237	0.561000	0.74099	CCG	TSPYL5	-	NULL		0.716	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	G	NM_033512		98289988	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.027	C
TTN	7273	genome.wustl.edu	37	2	179427450	179427450	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:179427450G>A	ENST00000591111.1	-	276	78710	c.78486C>T	c.(78484-78486)gtC>gtT	p.V26162V	TTN_ENST00000342992.6_Silent_p.V25235V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V18863V|TTN_ENST00000460472.2_Silent_p.V18738V|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.V18930V|TTN_ENST00000589042.1_Silent_p.V27803V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26162	Fibronectin type-III 90. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V18930V(1)|p.V18738V(1)|p.V25233V(1)|p.V25235V(1)|p.V18863V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCGTTTTTCGACAATGTAGT	0.363																																																	5	Substitution - coding silent(5)	cervix(5)											116.0	107.0	110.0					2																	179427450		1866	4102	5968	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.78486C>T	2.37:g.179427450G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	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.V25235	ENST00000591111.1	37	c.75705		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.363	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179427450	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.979	A
TTN	7273	genome.wustl.edu	37	2	179579852	179579852	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:179579852C>T	ENST00000591111.1	-	88	25334	c.25110G>A	c.(25108-25110)aaG>aaA	p.K8370K	TTN_ENST00000342992.6_Silent_p.K7443K|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000589042.1_Silent_p.K8687K|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12544	Ig-like 66.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.K7443K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGTACTTCTTGCCGCTCC	0.443																																																	1	Substitution - coding silent(1)	cervix(1)											334.0	315.0	321.0					2																	179579852		1935	4126	6061	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.25110G>A	2.37:g.179579852C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	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.K7443	ENST00000591111.1	37	c.22329		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179579852	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179638652	179638652	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:179638652C>G	ENST00000591111.1	-	31	7467	c.7243G>C	c.(7243-7245)Gaa>Caa	p.E2415Q	TTN_ENST00000342992.6_Missense_Mutation_p.E2415Q|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E2369Q|TTN_ENST00000460472.2_Missense_Mutation_p.E2369Q|TTN_ENST00000342175.6_Missense_Mutation_p.E2369Q|TTN_ENST00000360870.5_Missense_Mutation_p.E2415Q|TTN_ENST00000589042.1_Missense_Mutation_p.E2415Q|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12737	Ig-like 13.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.E2415Q(3)|p.E2369Q(3)		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)			GTCATGTCTTCAATGAGCAGC	0.478																																																	6	Substitution - Missense(6)	cervix(6)											135.0	112.0	120.0					2																	179638652		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.7243G>C	2.37:g.179638652C>G	ENSP00000465570:p.Glu2415Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E2415Q	ENST00000591111.1	37	c.7243		2	.	.	.	.	.	.	.	.	.	.	C	15.46	2.841174	0.51057	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.66099	-0.19;-0.19;-0.19;-0.19;-0.19	5.82	5.82	0.92795	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71668	0.3367	L	0.28115	0.83	0.41685	D	0.98931	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.998;0.998	T	0.74497	-0.3646	9	0.87932	D	0	.	20.1143	0.97922	0.0:1.0:0.0:0.0	.	2369;2369;2369;2415;2415	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	Q	2415;2369;2369;2369;2369;2415	ENSP00000343764:E2415Q;ENSP00000434586:E2369Q;ENSP00000340554:E2369Q;ENSP00000352154:E2369Q;ENSP00000354117:E2415Q	ENSP00000340554:E2369Q	E	-	1	0	TTN	179346897	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.765000	0.95021	0.650000	0.86243	GAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.478	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179638652	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TUBBP1	92755	genome.wustl.edu	37	8	30209689	30209689	+	RNA	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:30209689G>A	ENST00000518096.1	+	0	301									tubulin, beta pseudogene 1																		TGAAGCCACTGATGGCAAATA	0.542																																																	0																																												92755			J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209689G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000518096.1	37	NULL		8																																																																																			TUBBP1	-	-		0.542	TUBBP1-002	KNOWN	basic	processed_transcript	TUBBP1	HGNC	pseudogene	OTTHUMT00000375880.1	G	NG_001206		30209689	+1	no_errors	ENST00000518096	ensembl	human	known	70_37	rna	SNP	0.996	A
UBA1	7317	genome.wustl.edu	37	X	47062948	47062948	+	Silent	SNP	G	G	C	rs145317174		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:47062948G>C	ENST00000335972.6	+	14	1611	c.1428G>C	c.(1426-1428)gcG>gcC	p.A476A	UBA1_ENST00000490869.1_3'UTR|INE1_ENST00000456273.1_RNA|UBA1_ENST00000377351.4_Silent_p.A476A	NM_003334.3	NP_003325.2	P22314	UBA1_HUMAN	ubiquitin-like modifier activating enzyme 1	476	2 approximate repeats.				cell death (GO:0008219)|cellular response to DNA damage stimulus (GO:0006974)|modification-dependent protein catabolic process (GO:0019941)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|ubiquitin activating enzyme activity (GO:0004839)|ubiquitin-protein transferase activity (GO:0004842)	p.A476A(1)		breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGTGGGTGCGGGGGCCATTG	0.562																																																	1	Substitution - coding silent(1)	cervix(1)											78.0	67.0	71.0					X																	47062948		2203	4300	6503	SO:0001819	synonymous_variant	7317			AF258566	CCDS14275.1	Xp11.23	2014-08-13	2007-11-30	2007-11-30	ENSG00000130985	ENSG00000130985	6.3.2.19	"""Ubiquitin-like modifier activating enzymes"""	12469	protein-coding gene	gene with protein product	"""UBA1, ubiquitin-activating enzyme E1 homolog (yeast)"", ""POC20 centriolar protein homolog (Chlamydomonas)"""	314370	"""ubiquitin-activating enzyme E1 (A1S9T and BN75 temperature sensitivity complementing)"", ""ubiquitin-activating enzyme E1"""	A1S9T, GXP1, UBE1		1845793	Standard	NM_153280		Approved	UBE1X, POC20, CFAP124	uc004dhj.4	P22314	OTTHUMG00000021436	ENST00000335972.6:c.1428G>C	X.37:g.47062948G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRR8|Q96E13	Silent	SNP	pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1	p.A476	ENST00000335972.6	37	c.1428	CCDS14275.1	X																																																																																			UBA1	-	pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1		0.562	UBA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBA1	HGNC	protein_coding	OTTHUMT00000056389.1	G	NM_003334		47062948	+1	no_errors	ENST00000335972	ensembl	human	known	70_37	silent	SNP	0.779	C
UGDH	7358	genome.wustl.edu	37	4	39507311	39507311	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr4:39507311G>A	ENST00000316423.6	-	8	1306	c.964C>T	c.(964-966)Ctg>Ttg	p.L322L	UGDH_ENST00000501493.2_Silent_p.L255L|UGDH_ENST00000507089.1_Silent_p.L225L|UGDH_ENST00000506179.1_Silent_p.L322L	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	322					cellular glucuronidation (GO:0052695)|gastrulation with mouth forming second (GO:0001702)|glycosaminoglycan biosynthetic process (GO:0006024)|small molecule metabolic process (GO:0044281)|UDP-glucose metabolic process (GO:0006011)|UDP-glucuronate biosynthetic process (GO:0006065)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	electron carrier activity (GO:0009055)|NAD binding (GO:0051287)|UDP-glucose 6-dehydrogenase activity (GO:0003979)	p.L322L(1)		breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27						GTATTAAACAGACTATCTATG	0.348																																																	1	Substitution - coding silent(1)	cervix(1)											129.0	133.0	131.0					4																	39507311		2203	4300	6503	SO:0001819	synonymous_variant	7358			AF061016	CCDS3455.1, CCDS54757.1, CCDS54758.1	4p14	2011-11-16	2010-04-28		ENSG00000109814	ENSG00000109814	1.1.1.22		12525	protein-coding gene	gene with protein product		603370	"""UDP-glucose dehydrogenase"""			9737970, 10575217	Standard	NM_003359		Approved		uc003guk.2	O60701	OTTHUMG00000099371	ENST00000316423.6:c.964C>T	4.37:g.39507311G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUU2|B4DN25|O60589	Silent	SNP	pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_Nucleotide_sugar_DH	p.L322	ENST00000316423.6	37	c.964	CCDS3455.1	4																																																																																			UGDH	-	superfamily_UDP-Glc/GDP-Man_DH_C,tigrfam_Nucleotide_sugar_DH		0.348	UGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGDH	HGNC	protein_coding	OTTHUMT00000216818.3	G	NM_003359		39507311	-1	no_errors	ENST00000316423	ensembl	human	known	70_37	silent	SNP	1.000	A
UGT3A2	167127	genome.wustl.edu	37	5	36038116	36038116	+	Missense_Mutation	SNP	G	G	A	rs542527700		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr5:36038116G>A	ENST00000282507.3	-	6	1179	c.1078C>T	c.(1078-1080)Cac>Tac	p.H360Y	UGT3A2_ENST00000545528.1_Missense_Mutation_p.H58Y|UGT3A2_ENST00000513300.1_Missense_Mutation_p.H326Y|UGT3A2_ENST00000504954.1_5'Flank	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	360					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)	p.H360Y(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGCTTGGGTGAGCTGTTGTA	0.498													G|||	1	0.000199681	0.0	0.0	5008	,	,		20522	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	cervix(1)											54.0	57.0	56.0					5																	36038116		2203	4300	6503	SO:0001583	missense	167127				CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1078C>T	5.37:g.36038116G>A	ENSP00000282507:p.His360Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.H360Y	ENST00000282507.3	37	c.1078	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	G	13.90	2.376128	0.42105	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.76968	-1.06;-1.06;-0.92	3.64	2.77	0.32553	.	0.068894	0.56097	U	0.000032	D	0.90570	0.7044	H	0.97896	4.1	0.52501	D	0.999951	D;P	0.56287	0.975;0.884	P;P	0.61940	0.896;0.465	D	0.92129	0.5710	10	0.87932	D	0	.	10.8474	0.46751	0.099:0.0:0.901:0.0	.	326;360	E9PFK7;Q3SY77	.;UD3A2_HUMAN	Y	360;326;58	ENSP00000282507:H360Y;ENSP00000427404:H326Y;ENSP00000445367:H58Y	ENSP00000282507:H360Y	H	-	1	0	UGT3A2	36073873	1.000000	0.71417	0.457000	0.27056	0.664000	0.39144	5.276000	0.65580	1.113000	0.41760	0.563000	0.77884	CAC	UGT3A2	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.498	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	HGNC	protein_coding	OTTHUMT00000253771.2	G	NM_174914		36038116	-1	no_errors	ENST00000282507	ensembl	human	known	70_37	missense	SNP	1.000	A
UNC13D	201294	genome.wustl.edu	37	17	73838975	73838975	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr17:73838975C>T	ENST00000207549.4	-	5	730	c.351G>A	c.(349-351)gtG>gtA	p.V117V	UNC13D_ENST00000412096.2_Silent_p.V117V|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	117	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)		p.V117V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGGCCTGTTTCACTGTTGCCT	0.607									Familial Hemophagocytic Lymphohistiocytosis																																								1	Substitution - coding silent(1)	cervix(1)											141.0	146.0	145.0					17																	73838975		2203	4300	6503	SO:0001819	synonymous_variant	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.351G>A	17.37:g.73838975C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWG9|Q9H7K5	Silent	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V117	ENST00000207549.4	37	c.351	CCDS11730.1	17																																																																																			UNC13D	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.607	UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC13D	HGNC	protein_coding	OTTHUMT00000448847.2	C	XM_113950		73838975	-1	no_errors	ENST00000412096	ensembl	human	known	70_37	silent	SNP	0.994	T
UNC79	57578	genome.wustl.edu	37	14	94152932	94152932	+	Silent	SNP	G	G	A	rs574035652		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:94152932G>A	ENST00000393151.2	+	44	6951	c.6951G>A	c.(6949-6951)gcG>gcA	p.A2317A	UNC79_ENST00000553484.1_Silent_p.A2339A|UNC79_ENST00000256339.4_Silent_p.A2140A|UNC79_ENST00000555664.1_Silent_p.A2278A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	2317					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A2339A(1)|p.A2140A(1)		breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGACTGCAGCGATGGAGTGTG	0.507													G|||	1	0.000199681	0.0	0.0	5008	,	,		21566	0.0		0.0	False		,,,				2504	0.001																2	Substitution - coding silent(2)	cervix(2)											217.0	143.0	168.0					14																	94152932		2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.6951G>A	14.37:g.94152932G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.A2339	ENST00000393151.2	37	c.7017		14																																																																																			UNC79	-	NULL		0.507	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94152932	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	0.076	A
USP28	57646	genome.wustl.edu	37	11	113698046	113698046	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr11:113698046C>T	ENST00000003302.4	-	11	1164	c.1096G>A	c.(1096-1098)Gaa>Aaa	p.E366K	USP28_ENST00000545540.1_Missense_Mutation_p.E241K|USP28_ENST00000544967.1_Missense_Mutation_p.E74K|USP28_ENST00000537706.1_Missense_Mutation_p.E366K|USP28_ENST00000260188.5_Missense_Mutation_p.E366K	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	366	USP.				cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.E366K(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTGAGAGTTCAAAGGTCAAC	0.363																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - Missense(1)	cervix(1)											71.0	72.0	72.0					11																	113698046		2201	4296	6497	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.1096G>A	11.37:g.113698046C>T	ENSP00000003302:p.Glu366Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19	p.E366K	ENST00000003302.4	37	c.1096	CCDS31680.1	11	.	.	.	.	.	.	.	.	.	.	C	34	5.294516	0.95546	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540;ENST00000538475;ENST00000537706	T;T;T;T;T;T	0.73789	1.54;1.54;1.54;1.54;1.54;-0.78	4.83	4.83	0.62350	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	M	0.76574	2.34	0.80722	D	1	D;D;D;D	0.89917	1.0;0.998;1.0;1.0	D;D;D;D	0.97110	1.0;0.989;0.992;0.998	D	0.87595	0.2493	10	0.72032	D	0.01	-18.9332	18.4742	0.90786	0.0:1.0:0.0:0.0	.	241;366;366;74	B4E3L3;Q6NZX9;Q96RU2;G3V1N5	.;.;UBP28_HUMAN;.	K	366;366;74;241;130;366	ENSP00000003302:E366K;ENSP00000260188:E366K;ENSP00000442431:E74K;ENSP00000444991:E241K;ENSP00000442257:E130K;ENSP00000445743:E366K	ENSP00000003302:E366K	E	-	1	0	USP28	113203256	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.278000	0.78587	2.649000	0.89929	0.563000	0.77884	GAA	USP28	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.363	USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP28	HGNC	protein_coding	OTTHUMT00000398789.1	C			113698046	-1	no_errors	ENST00000003302	ensembl	human	known	70_37	missense	SNP	1.000	T
USP34	9736	genome.wustl.edu	37	2	61493135	61493135	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:61493135C>T	ENST00000398571.2	-	42	5677	c.5601G>A	c.(5599-5601)atG>atA	p.M1867I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1867					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.M1867I(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGTGTTGTGCCATAACCCAGT	0.368																																																	1	Substitution - Missense(1)	cervix(1)											150.0	136.0	140.0					2																	61493135		1856	4094	5950	SO:0001583	missense	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.5601G>A	2.37:g.61493135C>T	ENSP00000381577:p.Met1867Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.M1867I	ENST00000398571.2	37	c.5601	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191381	0.58017	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.03717	3.94;3.83	5.48	5.48	0.80851	Armadillo-type fold (1);	0.043305	0.85682	D	0.000000	T	0.09905	0.0243	L	0.53249	1.67	0.58432	D	0.999995	P	0.35872	0.525	P	0.45428	0.48	T	0.02574	-1.1139	10	0.54805	T	0.06	.	17.5436	0.87855	0.0:1.0:0.0:0.0	.	1867	Q70CQ2	UBP34_HUMAN	I	1715;1715;1867;145	ENSP00000381577:M1867I;ENSP00000410559:M145I	ENSP00000263989:M1715I	M	-	3	0	USP34	61346639	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.584000	0.87258	0.563000	0.77884	ATG	USP34	-	superfamily_ARM-type_fold		0.368	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	C			61493135	-1	no_errors	ENST00000398571	ensembl	human	known	70_37	missense	SNP	1.000	T
VCX3B	425054	genome.wustl.edu	37	X	8434154	8434154	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chrX:8434154G>C	ENST00000381032.1	+	3	778	c.471G>C	c.(469-471)gaG>gaC	p.E157D	VCX3B_ENST00000381029.4_Intron|VCX3B_ENST00000444481.1_Intron|VCX3B_ENST00000453306.1_Missense_Mutation_p.E157D|VCX3B_ENST00000440654.2_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	157	14 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.					nucleolus (GO:0005730)|nucleus (GO:0005634)				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						TGAGTCAGGAGAGCGAGGTGG	0.592																																																	0													20.0	62.0	51.0					X																	8434154		1420	3760	5180	SO:0001583	missense	425054				CCDS48077.1, CCDS48077.2	Xp22.31	2009-01-14			ENSG00000205642	ENSG00000205642			31838	protein-coding gene	gene with protein product							Standard	NM_001001888		Approved	VCX-C	uc011mht.2	Q9H321	OTTHUMG00000021106	ENST00000381032.1:c.471G>C	X.37:g.8434154G>C	ENSP00000370420:p.Glu157Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JS46|Q4KN12	Missense_Mutation	SNP	NULL	p.E157D	ENST00000381032.1	37	c.471	CCDS48077.2	X	.	.	.	.	.	.	.	.	.	.	G	7.548	0.662190	0.14645	.	.	ENSG00000205642	ENST00000381032;ENST00000453306	T;T	0.21031	2.03;2.03	0.693	0.693	0.18056	.	.	.	.	.	T	0.20659	0.0497	L	0.43152	1.355	0.80722	D	1	.	.	.	.	.	.	T	0.13072	-1.0523	7	0.87932	D	0	.	3.0051	0.06026	0.3386:0.0:0.6614:0.0	.	.	.	.	D	157	ENSP00000370420:E157D;ENSP00000411785:E157D	ENSP00000370420:E157D	E	+	3	2	VCX3B	8394154	0.255000	0.24002	0.001000	0.08648	0.002000	0.02628	2.212000	0.42835	0.671000	0.31185	0.498000	0.49722	GAG	VCX3B	-	NULL		0.592	VCX3B-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	VCX3B	HGNC	protein_coding	OTTHUMT00000055691.1	G			8434154	+1	no_errors	ENST00000453306	ensembl	human	known	70_37	missense	SNP	0.012	C
VPRBP	9730	genome.wustl.edu	37	3	51457372	51457372	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr3:51457372G>A	ENST00000335891.5	-	7	1714	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1018	Chromo.				B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)	p.R1022C(1)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTCTTGCAGCGAGCATGTTGT	0.493																																																	1	Substitution - Missense(1)	cervix(1)											219.0	218.0	218.0					3																	51457372		2032	4176	6208	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.1705C>T	3.37:g.51457372G>A	ENSP00000338857:p.Arg569Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.R569C	ENST00000335891.5	37	c.1705		3	.	.	.	.	.	.	.	.	.	.	G	20.4	3.979003	0.74360	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.56444	0.46;0.46	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.62208	0.2409	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.65755	-0.6091	10	0.72032	D	0.01	-10.6771	20.3017	0.98615	0.0:0.0:1.0:0.0	.	1018	Q9Y4B6	VPRBP_HUMAN	C	589;569	ENSP00000393183:R589C;ENSP00000338857:R569C	ENSP00000338857:R569C	R	-	1	0	VPRBP	51432412	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.057000	0.93889	2.800000	0.96347	0.650000	0.86243	CGC	VPRBP	-	superfamily_ARM-type_fold		0.493	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		G	NM_014703		51457372	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS13B	157680	genome.wustl.edu	37	8	100654154	100654154	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:100654154G>C	ENST00000358544.2	+	34	5522	c.5411G>C	c.(5410-5412)aGa>aCa	p.R1804T	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1779T|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1804					protein transport (GO:0015031)			p.R1804T(1)|p.R1779T(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTAAAATCAGAATAGTGCAA	0.433																																					Colon(161;2205 2542 7338 31318)												2	Substitution - Missense(2)	cervix(2)											103.0	96.0	98.0					8																	100654154		2203	4300	6503	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.5411G>C	8.37:g.100654154G>C	ENSP00000351346:p.Arg1804Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.R1804T	ENST00000358544.2	37	c.5411	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	24.4	4.524387	0.85600	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70516	-0.49;-0.49	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.75236	0.3822	L	0.34521	1.04	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.68353	0.957;0.906	T	0.65813	-0.6077	10	0.06757	T	0.87	.	20.3539	0.98825	0.0:0.0:1.0:0.0	.	1779;1804	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	T	1779;1804	ENSP00000349685:R1779T;ENSP00000351346:R1804T	ENSP00000349685:R1779T	R	+	2	0	VPS13B	100723330	1.000000	0.71417	0.997000	0.53966	0.986000	0.74619	6.338000	0.72963	2.826000	0.97356	0.655000	0.94253	AGA	VPS13B	-	NULL		0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100654154	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	1.000	C
XIRP2	129446	genome.wustl.edu	37	2	168105466	168105466	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:168105466C>T	ENST00000409195.1	+	9	7653	c.7564C>T	c.(7564-7566)Cat>Tat	p.H2522Y	XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.H2300Y|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.H2522Y|XIRP2_ENST00000409728.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2347				H -> P (in Ref. 8; CAD91146). {ECO:0000305}.	actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)		p.H2522Y(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAAAATCTCATTCATTTCC	0.343																																																	1	Substitution - Missense(1)	cervix(1)											95.0	91.0	92.0					2																	168105466		1816	4067	5883	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.7564C>T	2.37:g.168105466C>T	ENSP00000386840:p.His2522Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.H2522Y	ENST00000409195.1	37	c.7564	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	C	13.71	2.318402	0.40996	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02631	4.22;4.22;4.22	5.97	5.09	0.68999	.	0.111234	0.64402	D	0.000012	T	0.11580	0.0282	M	0.67953	2.075	0.33248	D	0.558124	D;D;D	0.76494	0.998;0.999;0.999	P;D;D	0.64776	0.852;0.929;0.929	T	0.23154	-1.0196	10	0.22706	T	0.39	-11.6991	15.5358	0.76001	0.1394:0.8606:0.0:0.0	.	2347;2347;2300	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	Y	2522;2522;2300	ENSP00000386840:H2522Y;ENSP00000295237:H2522Y;ENSP00000387255:H2300Y	ENSP00000295237:H2522Y	H	+	1	0	XIRP2	167813712	0.975000	0.34042	0.988000	0.46212	0.971000	0.66376	2.557000	0.45871	1.512000	0.48834	0.655000	0.94253	CAT	XIRP2	-	NULL		0.343	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	C	NM_152381		168105466	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.998	T
WDR75	84128	genome.wustl.edu	37	2	190329969	190329969	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr2:190329969G>A	ENST00000314761.4	+	12	1338	c.1278G>A	c.(1276-1278)aaG>aaA	p.K426K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	426						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K426K(1)		breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TGTATAATAAGAAAACACAAG	0.353																																																	1	Substitution - coding silent(1)	cervix(1)											60.0	65.0	64.0					2																	190329969		2203	4297	6500	SO:0001819	synonymous_variant	84128			AK091546	CCDS2298.1	2q32.2	2013-01-09			ENSG00000115368	ENSG00000115368		"""WD repeat domain containing"""	25725	protein-coding gene	gene with protein product	"""UTP17, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_032168		Approved	FLJ12519, NET16, UTP17	uc002uql.1	Q8IWA0	OTTHUMG00000132660	ENST00000314761.4:c.1278G>A	2.37:g.190329969G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96J10|Q9H8U8|Q9H9U5|Q9H9V8|Q9UIX2	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K426	ENST00000314761.4	37	c.1278	CCDS2298.1	2																																																																																			WDR75	-	NULL		0.353	WDR75-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR75	HGNC	protein_coding	OTTHUMT00000255913.1	G	NM_032168		190329969	+1	no_errors	ENST00000314761	ensembl	human	known	70_37	silent	SNP	1.000	A
YOD1	55432	genome.wustl.edu	37	1	207222842	207222842	+	Silent	SNP	T	T	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:207222842T>A	ENST00000315927.4	-	2	616	c.570A>T	c.(568-570)gtA>gtT	p.V190V	YOD1_ENST00000391927.1_Silent_p.V146V|YOD1_ENST00000367084.1_Silent_p.V146V|PFKFB2_ENST00000411990.2_5'UTR	NM_018566.3	NP_061036.3	Q5VVQ6	OTU1_HUMAN	YOD1 deubiquitinase	190	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.				cellular amino acid metabolic process (GO:0006520)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein K11-linked deubiquitination (GO:0035871)|protein K27-linked deubiquitination (GO:1990167)|protein K29-linked deubiquitination (GO:0035523)|protein K33-linked deubiquitination (GO:1990168)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)		Lys48-specific deubiquitinase activity (GO:1990380)|metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)	p.V190V(1)		cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					GATCGCTTGCTACAATTTGTG	0.458																																																	1	Substitution - coding silent(1)	cervix(1)											108.0	107.0	107.0					1																	207222842		2203	4300	6503	SO:0001819	synonymous_variant	55432				CCDS31002.1, CCDS60402.1	1q32.2	2013-06-04	2013-06-04		ENSG00000180667	ENSG00000180667		"""OTU domain containing"""	25035	protein-coding gene	gene with protein product		612023	"""YOD1 OTU deubiquinating enzyme 1 homolog ( yeast)"", ""YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae)"""				Standard	NM_001276320		Approved	DKFZp451J1719, OTUD2, DUBA8	uc001hfe.1	Q5VVQ6	OTTHUMG00000036032	ENST00000315927.4:c.570A>T	1.37:g.207222842T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX3|Q5VVQ5|Q6ZRS6|Q86T63|Q9P1L8	Silent	SNP	pfam_OTU,pfscan_OTU	p.V190	ENST00000315927.4	37	c.570	CCDS31002.1	1																																																																																			YOD1	-	pfam_OTU,pfscan_OTU		0.458	YOD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	YOD1	HGNC	protein_coding	OTTHUMT00000087837.1	T	NM_018566		207222842	-1	no_errors	ENST00000315927	ensembl	human	known	70_37	silent	SNP	1.000	A
YWHAZ	7534	genome.wustl.edu	37	8	101960892	101960893	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:101960892_101960893insT	ENST00000395957.2	-	3	566_567	c.225_226insA	c.(223-228)aaacagfs	p.Q76fs	YWHAZ_ENST00000395951.3_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000353245.3_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000419477.2_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000457309.1_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000522542.1_5'Flank|YWHAZ_ENST00000395956.3_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000395953.2_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000395948.2_5'UTR|YWHAZ_ENST00000395958.2_Frame_Shift_Ins_p.Q76fs|YWHAZ_ENST00000521309.1_Intron			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta	76					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)			GCCATCTGCTGTTTTTTCTCAG	0.416																																																	0																																										SO:0001589	frameshift_variant	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.226dupA	8.37:g.101960898_101960898dupT	ENSP00000379287:p.Gln76fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1N0|B7Z465|P29213|P29312|Q32P43|Q5XJ08|Q6GPI2|Q6IN74|Q6NUR9|Q6P3U9|Q86V33	Frame_Shift_Ins	INS	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3	p.Q75fs	ENST00000395957.2	37	c.226_225	CCDS6290.1	8																																																																																			YWHAZ	-	pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3		0.416	YWHAZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YWHAZ	HGNC	protein_coding	OTTHUMT00000259017.2	-	NM_145690		101960893	-1	no_errors	ENST00000353245	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.995	T
ZBTB8A	653121	genome.wustl.edu	37	1	33058778	33058778	+	Silent	SNP	C	C	T	rs144529739		TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:33058778C>T	ENST00000373510.4	+	3	475	c.246C>T	c.(244-246)ttC>ttT	p.F82F	ZBTB8A_ENST00000316459.4_Silent_p.F82F|RP1-27O5.3_ENST00000480336.1_3'UTR	NM_001040441.1	NP_001035531.1	Q96BR9	ZBT8A_HUMAN	zinc finger and BTB domain containing 8A	82	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				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.F82F(1)		cervix(2)|large_intestine(2)|lung(2)|prostate(1)	7						TCTTGGACTTCGTATATTCTG	0.413																																																	1	Substitution - coding silent(1)	cervix(1)						C		5,4401	9.9+/-24.2	0,5,2198	113.0	108.0	110.0		246	-8.3	0.8	1	dbSNP_134	110	0,8600		0,0,4300	no	coding-synonymous	ZBTB8A	NM_001040441.1		0,5,6498	TT,TC,CC		0.0,0.1135,0.0384		82/442	33058778	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	653121			AF548353	CCDS30664.1	1p34.3	2013-01-08	2009-03-25	2009-03-25	ENSG00000160062	ENSG00000160062		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	24172	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 8"""	ZBTB8		12477932	Standard	NM_001040441		Approved	BOZF1, FLJ90065, ZNF916A	uc001bvn.3	Q96BR9	OTTHUMG00000007855	ENST00000373510.4:c.246C>T	1.37:g.33058778C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IUL5|Q8IWR9|Q8N2Y5|Q96BX0	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.F82	ENST00000373510.4	37	c.246	CCDS30664.1	1																																																																																			ZBTB8A	-	pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.413	ZBTB8A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB8A	HGNC	protein_coding	OTTHUMT00000021665.2	C	NM_144621		33058778	+1	no_errors	ENST00000373510	ensembl	human	known	70_37	silent	SNP	0.904	T
ZC3H14	79882	genome.wustl.edu	37	14	89039025	89039025	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr14:89039025G>A	ENST00000251038.5	+	6	760	c.535G>A	c.(535-537)Gat>Aat	p.D179N	ZC3H14_ENST00000359301.3_Missense_Mutation_p.D145N|ZC3H14_ENST00000302216.8_Missense_Mutation_p.D179N|ZC3H14_ENST00000393514.5_Missense_Mutation_p.D179N|ZC3H14_ENST00000556945.1_Missense_Mutation_p.D179N|ZC3H14_ENST00000557607.1_Missense_Mutation_p.D24N|ZC3H14_ENST00000336693.4_Missense_Mutation_p.D145N|ZC3H14_ENST00000555755.1_Missense_Mutation_p.D179N	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	179						cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)	p.D179N(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCCAGAACCAGATGATCTCAT	0.443																																																	1	Substitution - Missense(1)	cervix(1)											157.0	155.0	156.0					14																	89039025		2203	4300	6503	SO:0001583	missense	79882			AF155107	CCDS32133.1, CCDS32134.1, CCDS32135.1, CCDS32136.1, CCDS55938.1	14q31.3	2014-08-12			ENSG00000100722	ENSG00000100722		"""Zinc fingers, CCCH-type domain containing"""	20509	protein-coding gene	gene with protein product		613279				10508479	Standard	NM_024824		Approved	FLJ11806, UKp68, NY-REN-37	uc001xww.3	Q6PJT7	OTTHUMG00000170803	ENST00000251038.5:c.535G>A	14.37:g.89039025G>A	ENSP00000251038:p.Asp179Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY46|B4DXU8|B4DZW7|B4E2H4|G3V5R4|Q6MZU4|Q6PJ32|Q6PUI6|Q6PUI8|Q86TQ5|Q86TW0|Q86TW1|Q8NCT6|Q8NCZ3|Q8TDE2|Q9HAC9|Q9Y5A0	Missense_Mutation	SNP	smart_Znf_CCCH	p.D179N	ENST00000251038.5	37	c.535	CCDS32133.1	14	.	.	.	.	.	.	.	.	.	.	G	35	5.556790	0.96514	.	.	ENSG00000100722	ENST00000251038;ENST00000393530;ENST00000353091;ENST00000359301;ENST00000302216;ENST00000380684;ENST00000556945;ENST00000556158;ENST00000557607;ENST00000555799;ENST00000555755;ENST00000393514;ENST00000336693	.	.	.	5.83	5.83	0.93111	.	0.050820	0.85682	D	0.000000	T	0.79458	0.4449	M	0.66939	2.045	0.44880	D	0.99789	D;D;D;D;D;D	0.89917	1.0;0.992;0.998;1.0;0.992;1.0	D;P;D;D;P;D	0.87578	0.998;0.856;0.995;0.998;0.856;0.998	T	0.79276	-0.1870	9	0.62326	D	0.03	-15.9474	20.106	0.97895	0.0:0.0:1.0:0.0	.	179;160;179;179;179;179	G3V256;F8W848;G3V5R4;Q6PJT7-2;Q6PJT7-3;Q6PJT7	.;.;.;.;.;ZC3HE_HUMAN	N	179;179;179;145;179;160;179;166;24;145;179;179;145	.	ENSP00000251038:D179N	D	+	1	0	ZC3H14	88108778	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.063000	0.89482	2.758000	0.94735	0.655000	0.94253	GAT	ZC3H14	-	NULL		0.443	ZC3H14-001	KNOWN	basic|CCDS	protein_coding	ZC3H14	HGNC	protein_coding	OTTHUMT00000410387.1	G	NM_024824		89039025	+1	no_errors	ENST00000251038	ensembl	human	known	70_37	missense	SNP	1.000	A
ZDHHC1	29800	genome.wustl.edu	37	16	67432778	67432778	+	Silent	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:67432778G>C	ENST00000348579.2	-	6	941	c.600C>G	c.(598-600)gtC>gtG	p.V200V	ZDHHC1_ENST00000566075.1_5'Flank	NM_013304.2	NP_037436.1	Q8WTX9	ZDHC1_HUMAN	zinc finger, DHHC-type containing 1	200					protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.V200V(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		ACTCCACGAAGACATATGTGG	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											86.0	78.0	81.0					16																	67432778		2198	4300	6498	SO:0001819	synonymous_variant	29800			U90653	CCDS10836.1	16q22.1	2010-03-25	2003-01-27		ENSG00000159714	ENSG00000159714		"""Zinc fingers, DHHC-type"""	17916	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 1"""	C16orf1		10395086	Standard	NM_013304		Approved	HSU90653, ZNF377	uc010vjm.2	Q8WTX9	OTTHUMG00000137522	ENST00000348579.2:c.600C>G	16.37:g.67432778G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O15461	Silent	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.V200	ENST00000348579.2	37	c.600	CCDS10836.1	16																																																																																			ZDHHC1	-	NULL		0.582	ZDHHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC1	HGNC	protein_coding	OTTHUMT00000268845.1	G	NM_013304		67432778	-1	no_errors	ENST00000348579	ensembl	human	known	70_37	silent	SNP	1.000	C
ZFHX3	463	genome.wustl.edu	37	16	72821171	72821171	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr16:72821171G>A	ENST00000268489.5	-	10	11676	c.11004C>T	c.(11002-11004)ctC>ctT	p.L3668L	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.L2754L|RP5-991G20.4_ENST00000569195.1_RNA|RP5-991G20.1_ENST00000563328.2_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3668					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|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)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L3668L(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				ACTTTTGGCTGAGATCCGTGT	0.582																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	129.0	128.0					16																	72821171		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.11004C>T	16.37:g.72821171G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.L3668	ENST00000268489.5	37	c.11004	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.582	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72821171	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	A
ZBTB18	10472	genome.wustl.edu	37	1	244217494	244217494	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:244217494G>A	ENST00000358704.4	+	2	567	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	131					cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E131K(1)									CACCAAAAAGGAAGAAGATGC	0.483																																																	1	Substitution - Missense(1)	cervix(1)											74.0	66.0	69.0					1																	244217494		2203	4300	6503	SO:0001583	missense	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.418G>A	1.37:g.244217494G>A	ENSP00000351539:p.Glu140Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E140K	ENST00000358704.4	37	c.418	CCDS1622.1	1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.859249	0.91433	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	T	0.12879	2.64	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.26557	0.0649	L	0.27053	0.805	0.80722	D	1	D;D;D	0.64830	0.993;0.99;0.994	D;P;D	0.68192	0.956;0.757;0.915	T	0.02098	-1.1214	10	0.52906	T	0.07	.	18.9107	0.92483	0.0:0.0:1.0:0.0	.	140;131;140	B4DF20;Q99592;Q99592-2	.;ZN238_HUMAN;.	K	140	ENSP00000351539:E140K	ENSP00000351539:E140K	E	+	1	0	ZNF238	242284117	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.604000	0.82830	2.475000	0.83589	0.650000	0.86243	GAA	ZNF238	-	NULL		0.483	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217494	+1	no_errors	ENST00000358704	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBTB18	10472	genome.wustl.edu	37	1	244217625	244217625	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr1:244217625G>A	ENST00000358704.4	+	2	698	c.549G>A	c.(547-549)agG>agA	p.R183R		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	174				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R174R(1)									CCAGCAAAAGGGACTTGGCGG	0.577																																																	1	Substitution - coding silent(1)	cervix(1)											53.0	57.0	56.0					1																	244217625		2203	4300	6503	SO:0001819	synonymous_variant	10472			U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.549G>A	1.37:g.244217625G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.R183	ENST00000358704.4	37	c.549	CCDS1622.1	1																																																																																			ZNF238	-	NULL		0.577	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF238	HGNC	protein_coding	OTTHUMT00000096513.2	G	NM_205768		244217625	+1	no_errors	ENST00000358704	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF252P	286101	genome.wustl.edu	37	8	146202368	146202368	+	RNA	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr8:146202368G>A	ENST00000426361.2	-	0	1816					NR_023392.1				zinc finger protein 252, pseudogene											endometrium(1)	1						CTCTGATGTTGAACAAGGGAA	0.403																																																	0																																												286101			BC019922		8q24.3	2012-10-05	2012-04-19	2012-04-19	ENSG00000196922	ENSG00000196922			13046	pseudogene	pseudogene			"""zinc finger protein 252"""	ZNF252			Standard	NR_023392		Approved		uc011llo.2		OTTHUMG00000165201		8.37:g.146202368G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000426361.2	37	NULL		8	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605970	0.46527	.	.	ENSG00000196922	ENST00000355436	.	.	.	2.97	0.919	0.19392	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	6.2575	0.20881	0.0:0.1779:0.4593:0.3628	.	.	.	.	X	494	.	ENSP00000347611:Q494X	Q	-	1	0	ZNF252	146173172	0.000000	0.05858	0.000000	0.03702	0.553000	0.35397	-0.863000	0.04259	-0.028000	0.13850	0.514000	0.50259	CAA	ZNF252P	-	-		0.403	ZNF252P-008	KNOWN	basic|exp_conf	processed_transcript	ZNF252P	HGNC	pseudogene	OTTHUMT00000451422.1	G	NR_023392		146202368	-1	no_errors	ENST00000426361	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF347	84671	genome.wustl.edu	37	19	53645643	53645644	+	In_Frame_Ins	INS	-	-	TTG			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:53645643_53645644insTTG	ENST00000334197.7	-	5	505_506	c.437_438insCAA	c.(436-438)aga>agCAAa	p.146_146R>SK	ZNF347_ENST00000601469.2_In_Frame_Ins_p.147_147R>SK|ZNF347_ENST00000452676.2_In_Frame_Ins_p.147_147R>SK|ZNF347_ENST00000601804.1_Intron	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CTTCAGCATCTCTGCATTGATA	0.406																																					Melanoma(64;205 1597 17324 45721)												0																																										SO:0001652	inframe_insertion	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.437_438insCAA	19.37:g.53645643_53645644insTTG	ENSP00000334146:p.Arg146delinsSerLys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU77|B9EG59|G5E9N4|Q8TCN1	In_Frame_Ins	INS	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.R147in_frame_insSK	ENST00000334197.7	37	c.441_440	CCDS33097.1	19																																																																																			ZNF347	-	NULL		0.406	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF347	HGNC	protein_coding	OTTHUMT00000464170.1	-	NM_032584		53645644	-1	no_errors	ENST00000452676	ensembl	human	known	70_37	in_frame_ins	INS	0.000:0.000	TTG
ZNF398	57541	genome.wustl.edu	37	7	148863947	148863947	+	Missense_Mutation	SNP	C	C	G			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr7:148863947C>G	ENST00000475153.1	+	4	853	c.586C>G	c.(586-588)Caa>Gaa	p.Q196E	ZNF398_ENST00000483892.1_Missense_Mutation_p.Q25E|ZNF398_ENST00000426851.2_Missense_Mutation_p.Q25E|ZNF398_ENST00000540950.1_Missense_Mutation_p.Q201E|ZNF398_ENST00000491174.1_Missense_Mutation_p.Q25E|ZNF398_ENST00000420008.2_Missense_Mutation_p.Q25E|ZNF398_ENST00000335901.4_Missense_Mutation_p.Q25E			Q8TD17	ZN398_HUMAN	zinc finger protein 398	196	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q196E(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			ATCTCAGATTCAACCAGAAGG	0.423																																																	1	Substitution - Missense(1)	cervix(1)											97.0	87.0	90.0					7																	148863947		2203	4300	6503	SO:0001583	missense	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.586C>G	7.37:g.148863947C>G	ENSP00000420418:p.Gln196Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.Q201E	ENST00000475153.1	37	c.601	CCDS5894.1	7	.	.	.	.	.	.	.	.	.	.	C	14.61	2.587128	0.46110	.	.	ENSG00000197024	ENST00000426851;ENST00000420008;ENST00000475153;ENST00000483892;ENST00000491174;ENST00000540950;ENST00000335901	T;T;T;T;T;T;T	0.04015	3.73;3.73;6.08;3.73;3.73;6.08;3.73	5.09	4.2	0.49525	Krueppel-associated box (3);	0.000000	0.46758	D	0.000270	T	0.01905	0.0060	N	0.02973	-0.45	0.28958	N	0.889983	B;B	0.29037	0.231;0.03	B;B	0.25140	0.058;0.009	T	0.38067	-0.9678	10	0.02654	T	1	-19.393	11.4568	0.50187	0.0:0.8187:0.1813:0.0	.	201;196	B4DXA9;Q8TD17	.;ZN398_HUMAN	E	25;25;196;25;25;201;25	ENSP00000389972:Q25E;ENSP00000416751:Q25E;ENSP00000420418:Q196E;ENSP00000418564:Q25E;ENSP00000419391:Q25E;ENSP00000439340:Q201E;ENSP00000338984:Q25E	ENSP00000338984:Q25E	Q	+	1	0	ZNF398	148494880	0.732000	0.28121	1.000000	0.80357	0.993000	0.82548	0.716000	0.25836	1.362000	0.46000	0.557000	0.71058	CAA	ZNF398	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.423	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	HGNC	protein_coding	OTTHUMT00000352722.2	C			148863947	+1	no_errors	ENST00000540950	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF442	79973	genome.wustl.edu	37	19	12461533	12461533	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:12461533C>T	ENST00000242804.4	-	6	1448	c.866G>A	c.(865-867)gGa>gAa	p.G289E	CTD-3105H18.13_ENST00000563695.2_lincRNA|ZNF442_ENST00000438182.1_Missense_Mutation_p.G220E	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	289					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.G289E(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						GGGTTTTTCTCCAGTGTGAGT	0.418																																																	1	Substitution - Missense(1)	cervix(1)											137.0	135.0	135.0					19																	12461533		2203	4300	6503	SO:0001583	missense	79973			AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.866G>A	19.37:g.12461533C>T	ENSP00000242804:p.Gly289Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ48	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.G289E	ENST00000242804.4	37	c.866	CCDS12271.1	19	.	.	.	.	.	.	.	.	.	.	C	15.33	2.801894	0.50315	.	.	ENSG00000198342	ENST00000242804;ENST00000438182	T;T	0.31769	1.48;1.48	0.832	0.832	0.18867	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42562	0.1208	L	0.46670	1.46	0.38963	D	0.958585	D	0.89917	1.0	D	0.97110	1.0	T	0.42189	-0.9466	9	0.72032	D	0.01	.	7.4953	0.27485	0.0:1.0:0.0:0.0	.	289	Q9H7R0	ZN442_HUMAN	E	289;220	ENSP00000242804:G289E;ENSP00000388634:G220E	ENSP00000242804:G289E	G	-	2	0	ZNF442	12322533	0.000000	0.05858	0.274000	0.24659	0.281000	0.26958	0.383000	0.20651	0.737000	0.32582	0.313000	0.20887	GGA	ZNF442	-	pfscan_Znf_C2H2		0.418	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF442	HGNC	protein_coding	OTTHUMT00000344109.1	C	NM_030824		12461533	-1	no_errors	ENST00000242804	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF511	118472	genome.wustl.edu	37	10	135125334	135125334	+	Silent	SNP	C	C	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:135125334C>A	ENST00000359035.3	+	5	672	c.669C>A	c.(667-669)atC>atA	p.I223I	ZNF511_ENST00000361518.5_Silent_p.I223I|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000368554.4_Silent_p.I158I|ZNF511_ENST00000463816.2_3'UTR|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	223					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.I223I(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		AGAGGCGGATCTACAGACATA	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											75.0	79.0	77.0					10																	135125334		2203	4300	6503	SO:0001819	synonymous_variant	118472			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.669C>A	10.37:g.135125334C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	smart_Znf_C2H2-like	p.I158	ENST00000359035.3	37	c.474		10																																																																																			ZNF511	-	NULL		0.592	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	C	NM_145806		135125334	+1	no_errors	ENST00000368554	ensembl	human	known	70_37	silent	SNP	0.012	A
ZNF511	118472	genome.wustl.edu	37	10	135125361	135125361	+	Silent	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr10:135125361C>T	ENST00000359035.3	+	5	699	c.696C>T	c.(694-696)ctC>ctT	p.L232L	ZNF511_ENST00000361518.5_Intron|TUBGCP2_ENST00000417178.2_5'Flank|ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000463816.2_Intron|TUBGCP2_ENST00000368563.2_5'Flank|TUBGCP2_ENST00000470829.1_5'Flank			Q8NB15	ZN511_HUMAN	zinc finger protein 511	232					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		TGTCTGAGCTCTTTCTGAAAC	0.562																																																	0													76.0	82.0	80.0					10																	135125361		2203	4300	6503	SO:0001819	synonymous_variant	118472			AK091711	CCDS7677.1	10q26.3	2010-04-12			ENSG00000198546	ENSG00000198546		"""Zinc fingers, C2H2-type"""	28445	protein-coding gene	gene with protein product						12477932	Standard	NM_145806		Approved	MGC30006	uc001lmj.1	Q8NB15	OTTHUMG00000019317	ENST00000359035.3:c.696C>T	10.37:g.135125361C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8L5|Q8WUP1|Q96BV2	Silent	SNP	smart_Znf_C2H2-like	p.L232	ENST00000359035.3	37	c.696		10																																																																																			ZNF511	-	NULL		0.562	ZNF511-002	KNOWN	basic	protein_coding	ZNF511	HGNC	protein_coding	OTTHUMT00000051143.1	C	NM_145806		135125361	+1	no_errors	ENST00000359035	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF521	25925	genome.wustl.edu	37	18	22805425	22805425	+	Missense_Mutation	SNP	A	A	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr18:22805425A>C	ENST00000361524.3	-	4	2605	c.2457T>G	c.(2455-2457)caT>caG	p.H819Q	ZNF521_ENST00000538137.2_Missense_Mutation_p.H819Q|ZNF521_ENST00000584787.1_Missense_Mutation_p.H599Q|ZNF521_ENST00000579111.1_5'Flank	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	819					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)	p.H819Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AAATGATCGCATGGAAGGCTT	0.463			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	1	Substitution - Missense(1)	cervix(1)											167.0	158.0	161.0					18																	22805425		2203	4300	6503	SO:0001583	missense	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.2457T>G	18.37:g.22805425A>C	ENSP00000354794:p.His819Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H819Q	ENST00000361524.3	37	c.2457	CCDS32806.1	18	.	.	.	.	.	.	.	.	.	.	A	1.345	-0.593043	0.03771	.	.	ENSG00000198795	ENST00000361524;ENST00000538137;ENST00000399425	T;T	0.41400	1.0;1.0	5.93	-11.9	0.00025	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.049809	0.85682	D	0.000000	T	0.28200	0.0696	N	0.19112	0.55	0.21290	N	0.99973	P	0.42123	0.771	P	0.46885	0.53	T	0.55231	-0.8173	10	0.11794	T	0.64	-25.5375	22.477	0.99972	0.7946:0.0:0.2054:0.0	.	819	Q96K83	ZN521_HUMAN	Q	819;853;819	ENSP00000354794:H819Q;ENSP00000382352:H819Q	ENSP00000354794:H819Q	H	-	3	2	ZNF521	21059423	0.058000	0.20735	0.058000	0.19502	0.363000	0.29612	-0.450000	0.06803	-3.013000	0.00272	-1.127000	0.01993	CAT	ZNF521	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	A	NM_015461		22805425	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	missense	SNP	0.020	C
ZNF700	90592	genome.wustl.edu	37	19	12059989	12059989	+	Missense_Mutation	SNP	C	C	T			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:12059989C>T	ENST00000254321.5	+	4	1293	c.1150C>T	c.(1150-1152)Cac>Tac	p.H384Y	ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000482090.1_Missense_Mutation_p.H366Y|ZNF763_ENST00000590798.1_Intron|CTD-2006C1.12_ENST00000586394.1_RNA	NM_001271848.1|NM_144566.1	NP_001258777.1|NP_653167.1	Q9H0M5	ZN700_HUMAN	zinc finger protein 700	384					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.H384Y(1)	ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						TGAAAAAACTCACACTGGAGA	0.373																																																	1	Substitution - Missense(1)	cervix(1)											51.0	55.0	53.0					19																	12059989		2203	4300	6503	SO:0001583	missense	90592			AL136732	CCDS32915.1, CCDS74289.1	19p13.2	2013-01-08			ENSG00000196757	ENSG00000196757		"""Zinc fingers, C2H2-type"", ""-"""	25292	protein-coding gene	gene with protein product							Standard	NM_144566		Approved	DKFZp434I1610	uc031rjk.1	Q9H0M5	OTTHUMG00000156421	ENST00000254321.5:c.1150C>T	19.37:g.12059989C>T	ENSP00000254321:p.His384Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGU4	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.H384Y	ENST00000254321.5	37	c.1150	CCDS32915.1	19	.	.	.	.	.	.	.	.	.	.	c	14.49	2.550004	0.45383	.	.	ENSG00000196757	ENST00000254321	T	0.67523	-0.27	0.672	0.672	0.17935	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83046	0.5169	M	0.92649	3.33	0.29602	N	0.84763	D	0.76494	0.999	D	0.87578	0.998	T	0.75210	-0.3398	9	0.72032	D	0.01	.	8.8188	0.35011	0.0:1.0:0.0:0.0	.	384	Q9H0M5	ZN700_HUMAN	Y	384	ENSP00000254321:H384Y	ENSP00000254321:H384Y	H	+	1	0	ZNF700	11920989	0.977000	0.34250	0.353000	0.25747	0.254000	0.26022	4.141000	0.58038	0.623000	0.30267	0.305000	0.20034	CAC	ZNF700	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF700-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF700	HGNC	protein_coding	OTTHUMT00000344126.2	C	NM_144566		12059989	+1	no_errors	ENST00000254321	ensembl	human	known	70_37	missense	SNP	0.997	T
ZNF526	116115	genome.wustl.edu	37	19	42729490	42729490	+	Missense_Mutation	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:42729490G>A	ENST00000301215.3	+	3	1160	c.935G>A	c.(934-936)cGc>cAc	p.R312H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	312					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.R312H(1)		autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				CAGTGTCAGCGCAGTTTCAGC	0.652																																																	1	Substitution - Missense(1)	cervix(1)											20.0	20.0	20.0					19																	42729490		2184	4261	6445	SO:0001583	missense	116115			AB075831	CCDS12598.1	19q13.31	2013-01-08				ENSG00000167625		"""Zinc fingers, C2H2-type"""	29415	protein-coding gene	gene with protein product		614387				11853319	Standard	NM_133444		Approved	KIAA1951, MGC4267	uc002osz.1	Q8TF50		ENST00000301215.3:c.935G>A	19.37:g.42729490G>A	ENSP00000301215:p.Arg312His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV29|Q69YI2|Q96E24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R312H	ENST00000301215.3	37	c.935	CCDS12598.1	19	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161412	0.78226	.	.	ENSG00000167625	ENST00000437878;ENST00000301215	T	0.44881	0.91	4.53	4.53	0.55603	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.63153	0.2487	M	0.70275	2.135	0.47407	D	0.999412	D	0.89917	1.0	D	0.77004	0.989	T	0.67325	-0.5699	10	0.87932	D	0	-24.6695	15.1629	0.72798	0.0:0.0:1.0:0.0	.	312	Q8TF50	ZN526_HUMAN	H	168;312	ENSP00000301215:R312H	ENSP00000301215:R312H	R	+	2	0	ZNF526	47421330	0.028000	0.19301	1.000000	0.80357	0.977000	0.68977	1.808000	0.38912	2.524000	0.85096	0.563000	0.77884	CGC	ZNF526	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.652	ZNF526-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF526	HGNC	protein_coding	OTTHUMT00000463681.2	G	XM_057401		42729490	+1	no_errors	ENST00000301215	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF846	162993	genome.wustl.edu	37	19	9868423	9868423	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:9868423G>C	ENST00000397902.2	-	6	1743	c.1330C>G	c.(1330-1332)Cac>Gac	p.H444D	ZNF846_ENST00000592859.1_Intron|ZNF846_ENST00000588267.1_Intron|ZNF846_ENST00000586293.1_3'UTR	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	444					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.H444D(1)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						TCTCCAGTGTGAGTTCTTAAA	0.438																																																	1	Substitution - Missense(1)	cervix(1)											81.0	92.0	88.0					19																	9868423		2143	4282	6425	SO:0001583	missense	162993			AK097652	CCDS42496.1	19p13.2	2013-01-08			ENSG00000196605	ENSG00000196605		"""Zinc fingers, C2H2-type"", ""-"""	27260	protein-coding gene	gene with protein product							Standard	NM_001077624		Approved		uc002mmb.1	Q147U1		ENST00000397902.2:c.1330C>G	19.37:g.9868423G>C	ENSP00000380999:p.His444Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0H1|B3KUP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H444D	ENST00000397902.2	37	c.1330	CCDS42496.1	19	.	.	.	.	.	.	.	.	.	.	.	18.31	3.595741	0.66219	.	.	ENSG00000196605	ENST00000397902	T	0.67698	-0.28	2.04	2.04	0.26737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.83663	0.5303	M	0.92784	3.345	0.31226	N	0.696895	D	0.89917	1.0	D	0.91635	0.999	T	0.82026	-0.0661	8	.	.	.	.	10.1856	0.42995	0.0:0.0:1.0:0.0	.	444	Q147U1	ZN846_HUMAN	D	444	ENSP00000380999:H444D	.	H	-	1	0	ZNF846	9729423	1.000000	0.71417	0.514000	0.27761	0.296000	0.27459	6.106000	0.71511	1.468000	0.48064	0.555000	0.69702	CAC	ZNF846	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2		0.438	ZNF846-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF846	HGNC	protein_coding	OTTHUMT00000450253.1	G	NM_001077624		9868423	-1	no_errors	ENST00000397902	ensembl	human	known	70_37	missense	SNP	0.995	C
ZNF91	7644	genome.wustl.edu	37	19	23544483	23544483	+	Missense_Mutation	SNP	G	G	C			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:23544483G>C	ENST00000300619.7	-	4	1503	c.1298C>G	c.(1297-1299)cCt>cGt	p.P433R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.P401R|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	433					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)	p.P433R(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACACTTGTAAGGTTTCTCTCC	0.343																																																	1	Substitution - Missense(1)	cervix(1)											18.0	18.0	18.0					19																	23544483		1958	4168	6126	SO:0001583	missense	7644			M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.1298C>G	19.37:g.23544483G>C	ENSP00000300619:p.Pro433Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E1|B7Z6G6	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.P433R	ENST00000300619.7	37	c.1298	CCDS42541.1	19	.	.	.	.	.	.	.	.	.	.	G	5.691	0.312029	0.10789	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.17213	2.29;2.29	1.47	-1.73	0.08081	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20861	0.0502	L	0.47078	1.49	0.25487	N	0.987683	D;P	0.60160	0.987;0.936	P;P	0.53912	0.737;0.575	T	0.13683	-1.0500	9	0.87932	D	0	.	5.0816	0.14659	0.1445:0.2114:0.6441:0.0	.	401;433	Q05481-2;Q05481	.;ZNF91_HUMAN	R	433;401	ENSP00000300619:P433R;ENSP00000380272:P401R	ENSP00000300619:P433R	P	-	2	0	ZNF91	23336323	0.487000	0.25988	0.000000	0.03702	0.000000	0.00434	1.495000	0.35627	-0.548000	0.06199	-2.763000	0.00121	CCT	ZNF91	-	pfscan_Znf_C2H2		0.343	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF91	HGNC	protein_coding	OTTHUMT00000465891.1	G	NM_003430		23544483	-1	no_errors	ENST00000300619	ensembl	human	known	70_37	missense	SNP	0.689	C
ZNF8	7554	genome.wustl.edu	37	19	58806467	58806467	+	Silent	SNP	G	G	A			TCGA-DS-A0VM-01A-11D-A10S-08	TCGA-DS-A0VM-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70fd6f1d-ed8e-4e5c-84b6-70f804ed304a	3382bf29-050b-45a8-93c9-c99354871db7	g.chr19:58806467G>A	ENST00000196548.5	+	4	1424	c.1293G>A	c.(1291-1293)ctG>ctA	p.L431L	ZNF8_ENST00000608843.1_Silent_p.L431L|AC010642.1_ENST00000591325.1_3'UTR			P17098	ZNF8_HUMAN	zinc finger protein 8	431					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.L431L(1)		autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GCCAGAGGCTGATCTTTGAGC	0.592																																																	1	Substitution - coding silent(1)	cervix(1)											82.0	86.0	85.0					19																	58806467		2203	4300	6503	SO:0001819	synonymous_variant	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1293G>A	19.37:g.58806467G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PI99	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L431	ENST00000196548.5	37	c.1293	CCDS12974.1	19																																																																																			ZNF8	-	NULL		0.592	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58806467	+1	no_errors	ENST00000196548	ensembl	human	known	70_37	silent	SNP	0.508	A
