#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ACAD10	80724	genome.wustl.edu	37	12	112130576	112130576	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr12:112130576G>A	ENST00000313698.4	+	2	218	c.63G>A	c.(61-63)ctG>ctA	p.L21L	ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000455480.2_Silent_p.L21L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Silent_p.L21L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	21						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						CAGCCTTCCTGAAACACACCC	0.602																																																	0													131.0	112.0	119.0					12																	112130576		2203	4300	6503	SO:0001819	synonymous_variant	80724			AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.63G>A	12.37:g.112130576G>A			G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Silent	SNP	pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3	p.L21	ENST00000313698.4	37	c.63	CCDS31903.1	12																																																																																			ACAD10	-	NULL		0.602	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACAD10	HGNC	protein_coding	OTTHUMT00000368307.1	G	NM_025247		112130576	+1	no_errors	ENST00000455480	ensembl	human	known	70_37	silent	SNP	0.006	A
ADAMTS6	11174	genome.wustl.edu	37	5	64466540	64466540	+	5'UTR	SNP	C	C	T	rs537343964		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:64466540C>T	ENST00000314351.5	-	0	807							Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6							proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GATGCCTGTCCGGTGTAGGAG	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		18304	0.001		0.0	False		,,,				2504	0.0																0													95.0	84.0	87.0					5																	64466540		2203	4300	6503	SO:0001623	5_prime_UTR_variant	11174			AF140674	CCDS3983.2	5q13	2008-07-18	2005-08-19		ENSG00000049192	ENSG00000049192		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	222	protein-coding gene	gene with protein product	"""a disintegrin and metalloproteinase with thrombospondin motifs 6"""	605008	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 6"""			10464288	Standard	NM_197941		Approved	ADAM-TS6	uc003jtp.3	Q9UKP5	OTTHUMG00000074079	ENST00000314351.5:c.-515G>A	5.37:g.64466540C>T			Q59EX6|Q5IR87|Q5IR88|Q5IR89|Q68DL1	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G1050R	ENST00000314351.5	37	c.3148		5	.	.	.	.	.	.	.	.	.	.	C	30	5.055030	0.93793	.	.	ENSG00000049192	ENST00000381055	T	0.51071	0.72	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.70736	0.3258	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.70208	-0.4935	10	0.49607	T	0.09	.	19.8351	0.96655	0.0:1.0:0.0:0.0	.	1050	Q9UKP5	ATS6_HUMAN	R	1050	ENSP00000370443:G1050R	ENSP00000370443:G1050R	G	-	1	0	ADAMTS6	64502296	1.000000	0.71417	0.996000	0.52242	0.984000	0.73092	7.487000	0.81328	2.693000	0.91896	0.650000	0.86243	GGA	ADAMTS6	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.443	ADAMTS6-006	KNOWN	basic	processed_transcript	ADAMTS6	HGNC	protein_coding	OTTHUMT00000157334.2	C	NM_197941		64466540	-1	no_errors	ENST00000381055	ensembl	human	known	70_37	missense	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62300590	62300590	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:62300590C>T	ENST00000378024.4	-	5	1573	c.1299G>A	c.(1297-1299)aaG>aaA	p.K433K	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	433					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTTTCATCTTGGGCACAT	0.537																																																	0													89.0	90.0	90.0					11																	62300590		2202	4299	6501	SO:0001819	synonymous_variant	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1299G>A	11.37:g.62300590C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K433	ENST00000378024.4	37	c.1299	CCDS31584.1	11																																																																																			AHNAK	-	NULL		0.537	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62300590	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	silent	SNP	0.184	T
AKAP3	10566	genome.wustl.edu	37	12	4736232	4736232	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr12:4736232G>T	ENST00000545990.2	-	5	2360	c.1836C>A	c.(1834-1836)agC>agA	p.S612R	AKAP3_ENST00000228850.1_Missense_Mutation_p.S612R|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	612					acrosome reaction (GO:0007340)|cellular component movement (GO:0006928)|protein localization (GO:0008104)|single fertilization (GO:0007338)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	acrosomal vesicle (GO:0001669)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	protein kinase A binding (GO:0051018)	p.S612S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						TGGGTTCAGGGCTCTGGTCAC	0.468																																																	2	Substitution - coding silent(2)	endometrium(2)											69.0	67.0	68.0					12																	4736232		2203	4300	6503	SO:0001583	missense	10566			U85715	CCDS8531.1	12p13.3	2009-03-12				ENSG00000111254		"""A-kinase anchor proteins"""	373	protein-coding gene	gene with protein product	"""Fibrous Sheath Protein of 95 kDa"", ""cancer/testis antigen 82"""	604689				10334916, 10319321	Standard	NM_001278309		Approved	FSP95, SOB1, AKAP110, CT82	uc001qnb.4	O75969		ENST00000545990.2:c.1836C>A	12.37:g.4736232G>T	ENSP00000440994:p.Ser612Arg		O75945|Q86X01|Q9UM61	Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.S612R	ENST00000545990.2	37	c.1836	CCDS8531.1	12	.	.	.	.	.	.	.	.	.	.	G	0.040	-1.290634	0.01387	.	.	ENSG00000111254	ENST00000228850;ENST00000545990	T;T	0.07327	3.2;3.2	5.69	2.82	0.32997	A-kinase anchor 110kDa, C-terminal (1);	0.686095	0.14720	N	0.302404	T	0.08044	0.0201	L	0.57536	1.79	0.09310	N	1	B	0.15141	0.012	B	0.15870	0.014	T	0.43048	-0.9415	10	0.16896	T	0.51	-5.0292	4.792	0.13254	0.2386:0.0:0.6106:0.1508	.	612	O75969	AKAP3_HUMAN	R	612	ENSP00000228850:S612R;ENSP00000440994:S612R	ENSP00000228850:S612R	S	-	3	2	AKAP3	4606493	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.325000	0.19628	0.312000	0.23038	0.655000	0.94253	AGC	AKAP3	-	pfam_AKAP_110_C,smart_AKAP_110		0.468	AKAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP3	HGNC	protein_coding	OTTHUMT00000398911.2	G	NM_006422		4736232	-1	no_errors	ENST00000228850	ensembl	human	known	70_37	missense	SNP	0.000	T
ANKFN1	162282	genome.wustl.edu	37	17	54534305	54534305	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:54534305G>T	ENST00000318698.2	+	11	1335	c.1300G>T	c.(1300-1302)Gtg>Ttg	p.V434L	ANKFN1_ENST00000566473.2_Missense_Mutation_p.V434L	NM_153228.2	NP_694960.2	Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	434										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GAACAAGTTTGTGAAGACCTT	0.383																																																	0													62.0	61.0	62.0					17																	54534305		2203	4300	6503	SO:0001583	missense	162282			AK095654	CCDS32686.1	17q23.2	2014-02-12	2005-11-15		ENSG00000153930	ENSG00000153930		"""Ankyrin repeat domain containing"", ""Fibronectin type III domain containing"""	26766	protein-coding gene	gene with protein product							Standard	NM_153228		Approved	FLJ38335	uc002iun.1	Q8N957	OTTHUMG00000155010	ENST00000318698.2:c.1300G>T	17.37:g.54534305G>T	ENSP00000321627:p.Val434Leu			Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3	p.V434L	ENST00000318698.2	37	c.1300	CCDS32686.1	17	.	.	.	.	.	.	.	.	.	.	G	8.025	0.760540	0.15914	.	.	ENSG00000153930	ENST00000318698	T	0.29142	1.58	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.28732	0.0712	L	0.48642	1.525	0.58432	D	0.999999	B	0.21753	0.06	B	0.20577	0.03	T	0.18650	-1.0330	10	0.05959	T	0.93	-12.117	20.2187	0.98312	0.0:0.0:1.0:0.0	.	434	Q8N957	ANKF1_HUMAN	L	434	ENSP00000321627:V434L	ENSP00000321627:V434L	V	+	1	0	ANKFN1	51889304	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.780000	0.95670	0.655000	0.94253	GTG	ANKFN1	-	NULL		0.383	ANKFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKFN1	HGNC	protein_coding	OTTHUMT00000338043.1	G	NM_153228		54534305	+1	no_errors	ENST00000318698	ensembl	human	known	70_37	missense	SNP	1.000	T
ARPP21	10777	genome.wustl.edu	37	3	35763138	35763138	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:35763138A>G	ENST00000187397.4	+	14	1493	c.1037A>G	c.(1036-1038)cAg>cGg	p.Q346R	ARPP21_ENST00000337271.5_Missense_Mutation_p.Q292R|ARPP21_ENST00000444190.1_Missense_Mutation_p.Q292R|ARPP21_ENST00000417925.1_Missense_Mutation_p.Q312R|ARPP21_ENST00000458225.1_Missense_Mutation_p.Q312R	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	346	Ser-rich.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			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						GGGAGTCGACAGAGCAGCTCA	0.537																																																	0													62.0	57.0	59.0					3																	35763138		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.1037A>G	3.37:g.35763138A>G	ENSP00000187397:p.Gln346Arg		B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.Q312R	ENST00000187397.4	37	c.935	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	A	21.8	4.200440	0.79015	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.28255	1.64;1.62;1.62;1.66;1.64	5.75	5.75	0.90469	.	0.128005	0.56097	D	0.000035	T	0.25827	0.0629	L	0.54323	1.7	0.53688	D	0.999974	B;P;B	0.45348	0.282;0.856;0.282	B;B;B	0.37888	0.093;0.26;0.093	T	0.05649	-1.0872	10	0.17369	T	0.5	-10.4905	11.188	0.48669	0.863:0.0:0.0:0.137	.	312;346;292	Q9UBL0-3;Q9UBL0;Q9UBL0-4	.;ARP21_HUMAN;.	R	312;292;292;346;312	ENSP00000414351:Q312R;ENSP00000337792:Q292R;ENSP00000405276:Q292R;ENSP00000187397:Q346R;ENSP00000412326:Q312R	ENSP00000187397:Q346R	Q	+	2	0	ARPP21	35738142	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.280000	0.78610	2.201000	0.70794	0.533000	0.62120	CAG	ARPP21	-	NULL		0.537	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	A	NM_198399		35763138	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	1.000	G
ASTE1	28990	genome.wustl.edu	37	3	130735010	130735010	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:130735010G>C	ENST00000264992.3	-	5	2128	c.1687C>G	c.(1687-1689)Ctc>Gtc	p.L563V	ATP2C1_ENST00000393221.4_Missense_Mutation_p.E947D|ATP2C1_ENST00000359644.3_Missense_Mutation_p.E923D|ASTE1_ENST00000514044.1_Missense_Mutation_p.L563V|ATP2C1_ENST00000328560.8_Missense_Mutation_p.E882Q|ATP2C1_ENST00000533801.2_Missense_Mutation_p.E918D|ATP2C1_ENST00000507488.2_Missense_Mutation_p.E897D|ATP2C1_ENST00000513801.1_Missense_Mutation_p.E897D|ATP2C1_ENST00000422190.2_Missense_Mutation_p.E913D|ATP2C1_ENST00000504381.1_Missense_Mutation_p.E868D	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	563					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						GGCTCTGGGAGAGGAGTGGAC	0.463																																																	0													108.0	101.0	103.0					3																	130735010		2203	4300	6503	SO:0001583	missense	27032			AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.1687C>G	3.37:g.130735010G>C	ENSP00000264992:p.Leu563Val		B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E947D	ENST00000264992.3	37	c.2841	CCDS3068.1	3	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	.|.|.|.	G|G|G|G	14.59|14.59|14.59|14.59	2.581736|2.581736|2.581736|2.581736	0.46006|0.46006|0.46006|0.46006	.|.|.|.	.|.|.|.	ENSG00000017260|ENSG00000017260|ENSG00000034533|ENSG00000017260	ENST00000504381;ENST00000507488;ENST00000393221;ENST00000533801;ENST00000513801;ENST00000359644;ENST00000422190;ENST00000347421|ENST00000328560|ENST00000514044;ENST00000264992|ENST00000504612	D;D;D;D;D;D;D|D|.|.	0.92495|0.92699|.|.	-3.04;-2.99;-2.99;-3.05;-2.99;-2.99;-2.99|-3.09|.|.	5.71|5.71|5.71|5.71	1.39|1.39|1.39|1.39	0.22231|0.22231|0.22231|0.22231	.|.|.|.	.|.|0.254539|.	.|.|0.38605|.	.|.|N|.	.|.|0.001628|.	T|T|T|T	0.38639|0.38639|0.38639|0.38639	0.1048|0.1048|0.1048|0.1048	.|.|.|.	.|.|.|.	.|.|.|.	0.18873|0.18873|0.18873|0.18873	N|N|N|N	0.999988|0.999988|0.999988|0.999988	B;B;B;B|B|D;D|.	0.13145|0.14012|0.89917|.	0.007;0.004;0.007;0.004|0.009|1.0;1.0|.	B;B;B;B|B|D;D|.	0.16289|0.18561|0.68943|.	0.015;0.004;0.015;0.007|0.022|0.961;0.923|.	T|T|T|T	0.28650|0.28650|0.28650|0.28650	-1.0037|-1.0037|-1.0037|-1.0037	8|8|8|4	0.59425|0.15499|0.66056|.	D|T|D|.	0.04|0.54|0.02|.	-6.4662|-6.4662|-6.4662|-6.4662	11.6093|11.6093|11.6093|11.6093	0.51049|0.51049|0.51049|0.51049	0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0|0.2854:0.0:0.7146:0.0	.|.|.|.	947;918;913;947|882|563;563|.	G3XAH8;B4DSW3;P98194-5;B7Z3X9|P98194-2|D6RG30;Q2TB18|.	.;.;.;.|.|.;ASTE1_HUMAN|.	D|Q|V|T	868;897;947;918;897;923;913;932|882|563|877	ENSP00000425320:E868D;ENSP00000421326:E897D;ENSP00000376914:E947D;ENSP00000432956:E918D;ENSP00000422872:E897D;ENSP00000352665:E923D;ENSP00000402677:E913D|ENSP00000329664:E882Q|.|.	ENSP00000306816:E932D|ENSP00000329664:E882Q|ENSP00000264992:L563V|.	E|E|L|R	+|+|-|+	3|1|1|2	2|0|0|0	ATP2C1|ATP2C1|ASTE1|ATP2C1	132217700|132217700|132217700|132217700	0.971000|0.971000|0.971000|0.971000	0.33674|0.33674|0.33674|0.33674	0.976000|0.976000|0.976000|0.976000	0.42696|0.42696|0.42696|0.42696	0.499000|0.499000|0.499000|0.499000	0.33736|0.33736|0.33736|0.33736	1.403000|1.403000|1.403000|1.403000	0.34612|0.34612|0.34612|0.34612	0.349000|0.349000|0.349000|0.349000	0.23975|0.23975|0.23975|0.23975	0.655000|0.655000|0.655000|0.655000	0.94253|0.94253|0.94253|0.94253	GAG|GAG|CTC|AGA	ATP2C1	-	NULL		0.463	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C1	HGNC	protein_coding	OTTHUMT00000356659.1	G	NM_014065		130735010	+1	no_errors	ENST00000393221	ensembl	human	known	70_37	missense	SNP	0.216	C
ATP4A	495	genome.wustl.edu	37	19	36045926	36045926	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:36045926C>T	ENST00000262623.3	-	16	2407	c.2379G>A	c.(2377-2379)aaG>aaA	p.K793K		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	793					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	CTGGGATGTTCTTGGTCAATG	0.567																																																	0													322.0	244.0	270.0					19																	36045926		2203	4300	6503	SO:0001819	synonymous_variant	495				CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.2379G>A	19.37:g.36045926C>T			O00738	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.K793	ENST00000262623.3	37	c.2379	CCDS12467.1	19																																																																																			ATP4A	-	tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.567	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP4A	HGNC	protein_coding	OTTHUMT00000109470.2	C	NM_000704		36045926	-1	no_errors	ENST00000262623	ensembl	human	known	70_37	silent	SNP	1.000	T
ATP7A	538	genome.wustl.edu	37	X	77264738	77264738	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:77264738G>A	ENST00000341514.6	+	7	2002	c.1847G>A	c.(1846-1848)aGa>aAa	p.R616K	ATP7A_ENST00000343533.5_Missense_Mutation_p.R616K|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	616	HMA 6. {ECO:0000255|PROSITE- ProRule:PRU00280}.				blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	ATTGGTCCTAGAGATATTATC	0.393																																																	0													160.0	164.0	162.0					X																	77264738		2203	4296	6499	SO:0001583	missense	538			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.1847G>A	X.37:g.77264738G>A	ENSP00000345728:p.Arg616Lys		B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.R616K	ENST00000341514.6	37	c.1847	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	G	33	5.275121	0.95459	.	.	ENSG00000165240	ENST00000343533;ENST00000341514;ENST00000355691	D;D	0.86865	-2.18;-2.18	5.1	5.1	0.69264	Heavy metal-associated domain, HMA (3);Heavy metal-associated domain, copper ion-binding (1);	0.000000	0.85682	D	0.000000	D	0.91526	0.7324	L	0.46947	1.48	0.80722	D	1	D;D	0.76494	0.999;0.969	D;P	0.83275	0.996;0.888	D	0.92619	0.6106	10	0.87932	D	0	-0.9605	17.8115	0.88617	0.0:0.0:1.0:0.0	.	616;626	Q04656;Q59HD1	ATP7A_HUMAN;.	K	616;616;626	ENSP00000343026:R616K;ENSP00000345728:R616K	ENSP00000345728:R616K	R	+	2	0	ATP7A	77151394	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	9.420000	0.97426	2.138000	0.66242	0.462000	0.41574	AGA	ATP7A	-	pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd		0.393	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	G	NM_000052		77264738	+1	no_errors	ENST00000341514	ensembl	human	known	70_37	missense	SNP	1.000	A
AUTS2	26053	genome.wustl.edu	37	7	70255358	70255358	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr7:70255358C>T	ENST00000342771.4	+	19	3477	c.3156C>T	c.(3154-3156)atC>atT	p.I1052I	AUTS2_ENST00000406775.2_Silent_p.I1028I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	1052										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		TCATGGGCATCAGCCCCCTCC	0.622																																																	0													28.0	32.0	31.0					7																	70255358		2203	4300	6503	SO:0001819	synonymous_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.3156C>T	7.37:g.70255358C>T			A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Silent	SNP	prints_AUTS2	p.I1052	ENST00000342771.4	37	c.3156	CCDS5539.1	7																																																																																			AUTS2	-	NULL		0.622	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70255358	+1	no_errors	ENST00000342771	ensembl	human	known	70_37	silent	SNP	1.000	T
BAG3	9531	genome.wustl.edu	37	10	121429618	121429618	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:121429618C>T	ENST00000369085.3	+	2	742	c.436C>T	c.(436-438)Cag>Tag	p.Q146*		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	146	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				brain development (GO:0007420)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|negative regulation of apoptotic process (GO:0043066)|negative regulation of striated muscle cell apoptotic process (GO:0010664)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|spinal cord development (GO:0021510)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|Z disc (GO:0030018)				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		AGAAACCACTCAGCCAGATAA	0.657																																																	0													43.0	48.0	47.0					10																	121429618		2202	4299	6501	SO:0001587	stop_gained	9531			AF095193	CCDS7615.1	10q25.2-q26.2	2014-09-17			ENSG00000151929	ENSG00000151929			939	protein-coding gene	gene with protein product		603883				9873016, 18094623	Standard	XM_005270287		Approved		uc001lem.3	O95817	OTTHUMG00000019155	ENST00000369085.3:c.436C>T	10.37:g.121429618C>T	ENSP00000358081:p.Gln146*		A8K5L8|Q3B763|Q9NT20|Q9P120	Nonsense_Mutation	SNP	pfam_BAG_domain,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_Rsp5_WWP	p.Q146*	ENST00000369085.3	37	c.436	CCDS7615.1	10	.	.	.	.	.	.	.	.	.	.	C	37	6.040145	0.97226	.	.	ENSG00000151929	ENST00000369085;ENST00000450186	.	.	.	5.28	5.28	0.74379	.	0.453611	0.20406	N	0.092947	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-13.9867	18.547	0.91050	0.0:1.0:0.0:0.0	.	.	.	.	X	146;88	.	ENSP00000358081:Q146X	Q	+	1	0	BAG3	121419608	0.994000	0.37717	1.000000	0.80357	0.885000	0.51271	3.204000	0.51082	2.473000	0.83533	0.561000	0.74099	CAG	BAG3	-	NULL		0.657	BAG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAG3	HGNC	protein_coding	OTTHUMT00000050662.1	C	NM_004281		121429618	+1	no_errors	ENST00000369085	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BIVM	54841	genome.wustl.edu	37	13	103468786	103468786	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:103468786A>G	ENST00000257336.1	+	4	1166	c.487A>G	c.(487-489)Aag>Gag	p.K163E	BIVM_ENST00000419638.1_Missense_Mutation_p.K163E|BIVM_ENST00000448849.2_5'UTR|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.K134R	NM_017693.3	NP_060163.2	Q86UB2	BIVM_HUMAN	basic, immunoglobulin-like variable motif containing	163						cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGCAATGCAAAGAAACAAGT	0.313																																																	0													70.0	68.0	69.0					13																	103468786		2203	4298	6501	SO:0001583	missense	54841			AF411385	CCDS9505.1, CCDS53879.1	13q33.1	2008-05-14			ENSG00000134897	ENSG00000134897			16034	protein-coding gene	gene with protein product						12036287	Standard	NM_017693		Approved	FLJ20159		Q86UB2	OTTHUMG00000017309	ENST00000257336.1:c.487A>G	13.37:g.103468786A>G	ENSP00000257336:p.Lys163Glu		Q2M1J2|Q9NXM4	Missense_Mutation	SNP	NULL	p.K163E	ENST00000257336.1	37	c.487	CCDS9505.1	13	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154448	0.57259	.	.	ENSG00000134897;ENSG00000134897;ENSG00000134899	ENST00000257336;ENST00000419638;ENST00000418659	.	.	.	5.88	5.88	0.94601	.	0.178889	0.47852	D	0.000207	T	0.63745	0.2537	L	0.34521	1.04	0.80722	D	1	D;P	0.62365	0.991;0.873	P;B	0.58331	0.837;0.385	T	0.66424	-0.5927	9	0.62326	D	0.03	.	16.2997	0.82804	1.0:0.0:0.0:0.0	.	134;163	Q59FZ7;Q86UB2	.;BIVM_HUMAN	E	163;163;134	.	ENSP00000257336:K163E	K	+	1	0	ERCC5;BIVM	102266787	1.000000	0.71417	0.995000	0.50966	0.527000	0.34593	7.642000	0.83385	2.250000	0.74265	0.528000	0.53228	AAG	BIVM	-	NULL		0.313	BIVM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BIVM	HGNC	protein_coding	OTTHUMT00000045704.2	A			103468786	+1	no_errors	ENST00000257336	ensembl	human	known	70_37	missense	SNP	1.000	G
C11orf40	143501	genome.wustl.edu	37	11	4598948	4598948	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:4598948C>T	ENST00000307616.1	-	1	102	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_144663.1	NP_653264.1	Q8WZ69	CK040_HUMAN	chromosome 11 open reading frame 40	35										large_intestine(3)|lung(1)|ovary(2)|stomach(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;4.28e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		ttttctctctctgggcaccag	0.592																																																	0													64.0	54.0	58.0					11																	4598948		2201	4298	6499	SO:0001583	missense	143501				CCDS31354.1	11p15.5	2005-10-03			ENSG00000171987	ENSG00000171987			23986	protein-coding gene	gene with protein product							Standard	NM_144663		Approved	NOV1	uc010qyg.2	Q8WZ69	OTTHUMG00000165345	ENST00000307616.1:c.103G>A	11.37:g.4598948C>T	ENSP00000302918:p.Glu35Lys			Missense_Mutation	SNP	NULL	p.E35K	ENST00000307616.1	37	c.103	CCDS31354.1	11	.	.	.	.	.	.	.	.	.	.	C	5.467	0.271193	0.10349	.	.	ENSG00000171987	ENST00000307616	T	0.54479	0.57	0.468	-0.565	0.11771	.	.	.	.	.	T	0.27205	0.0667	N	0.08118	0	0.09310	N	1	B	0.22800	0.075	B	0.15052	0.012	T	0.16188	-1.0411	8	0.87932	D	0	.	.	.	.	.	35	Q8WZ69	CK040_HUMAN	K	35	ENSP00000302918:E35K	ENSP00000302918:E35K	E	-	1	0	C11orf40	4555524	0.003000	0.15002	0.002000	0.10522	0.002000	0.02628	-0.389000	0.07342	-0.344000	0.08338	-0.339000	0.08088	GAG	C11orf40	-	NULL		0.592	C11orf40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C11orf40	HGNC	protein_coding	OTTHUMT00000383529.1	C	NM_144663		4598948	-1	no_errors	ENST00000307616	ensembl	human	known	70_37	missense	SNP	0.004	T
C3orf27	23434	genome.wustl.edu	37	3	128292319	128292320	+	Frame_Shift_Del	DEL	TC	TC	-	rs147519916		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	TC	TC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:128292319_128292320delTC	ENST00000356020.2	-	3	1219_1220	c.253_254delGA	c.(253-255)gatfs	p.D86fs		NM_007354.2	NP_031380.1	O15544	GR6_HUMAN	chromosome 3 open reading frame 27	86										large_intestine(2)|lung(5)|prostate(1)	8				GBM - Glioblastoma multiforme(114;0.176)		GAGCTCGTCATCTCTCTCTCTC	0.599																																																	0																																										SO:0001589	frameshift_variant	23434			AF008192	CCDS3050.1	3q21	2005-12-19			ENSG00000198685	ENSG00000198685			17099	protein-coding gene	gene with protein product						9307271	Standard	NR_125802		Approved	GR6	uc003ekq.3	O15544	OTTHUMG00000159688	ENST00000356020.2:c.253_254delGA	3.37:g.128292329_128292330delTC	ENSP00000348302:p.Asp86fs			Frame_Shift_Del	DEL	NULL	p.D85fs	ENST00000356020.2	37	c.254_253	CCDS3050.1	3																																																																																			C3orf27	-	NULL		0.599	C3orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf27	HGNC	protein_coding	OTTHUMT00000356924.1	TC	NM_007354		128292320	-1	no_errors	ENST00000356020	ensembl	human	known	70_37	frame_shift_del	DEL	0.075:0.076	-
PRR27	401137	genome.wustl.edu	37	4	71008261	71008261	+	3'UTR	SNP	C	C	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:71008261C>G	ENST00000502441.2	+	0	283							Q6MZM9	PRR27_HUMAN								extracellular vesicular exosome (GO:0070062)				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ACCAAGTTATCCCCACTCTGG	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	401137																														ENST00000502441.2:c.*280C>G	4.37:g.71008261C>G			A8MXP0|Q6MZR6	RNA	SNP	-	NULL	ENST00000502441.2	37	NULL		4																																																																																			C4orf40	-	-		0.343	C4orf40-006	KNOWN	basic	processed_transcript	C4orf40	HGNC	protein_coding	OTTHUMT00000362603.3	C			71008261	+1	no_errors	ENST00000502441	ensembl	human	known	70_37	rna	SNP	0.000	G
C5	727	genome.wustl.edu	37	9	123800210	123800210	+	Silent	SNP	C	C	T	rs376535022		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:123800210C>T	ENST00000223642.1	-	4	470	c.441G>A	c.(439-441)tcG>tcA	p.S147S		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	147					activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cell surface receptor signaling pathway (GO:0007166)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|in utero embryonic development (GO:0001701)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|leukocyte migration involved in inflammatory response (GO:0002523)|negative regulation of dopamine secretion (GO:0033602)|negative regulation of macrophage chemotaxis (GO:0010760)|negative regulation of norepinephrine secretion (GO:0010700)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of chemotaxis (GO:0050921)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|response to stress (GO:0006950)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)	chemokine activity (GO:0008009)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)|Intravenous Immunoglobulin(DB00028)	CGTCATTCAACGAATAAACTC	0.254																																																	0								C		0,4392		0,0,2196	22.0	24.0	23.0		441	-3.9	0.9	9		23	1,8543		0,1,4271	no	coding-synonymous	C5	NM_001735.2		0,1,6467	TT,TC,CC		0.0117,0.0,0.0077		147/1677	123800210	1,12935	2196	4272	6468	SO:0001819	synonymous_variant	727			M57729	CCDS6826.1	9q33-q34	2014-09-17			ENSG00000106804	ENSG00000106804		"""Complement system"", ""Endogenous ligands"""	1331	protein-coding gene	gene with protein product	"""prepro-C5"", ""C5a anaphylatoxin"""	120900					Standard	NM_001735		Approved	CPAMD4, C5a, C5b	uc004bkv.3	P01031	OTTHUMG00000020579	ENST00000223642.1:c.441G>A	9.37:g.123800210C>T			Q14CJ0|Q27I61	Silent	SNP	pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_Netrin_module_non-TIMP,pfam_A2M_N,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.S147	ENST00000223642.1	37	c.441	CCDS6826.1	9																																																																																			C5	-	pfam_A2M_N		0.254	C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5	HGNC	protein_coding	OTTHUMT00000053844.1	C	NM_001735		123800210	-1	no_errors	ENST00000223642	ensembl	human	known	70_37	silent	SNP	0.663	T
CADM1	23705	genome.wustl.edu	37	11	115047213	115047213	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:115047213T>A	ENST00000452722.3	-	10	1330	c.1310A>T	c.(1309-1311)aAg>aTg	p.K437M	CADM1_ENST00000537140.1_Intron|CADM1_ENST00000536727.1_Missense_Mutation_p.K438M|CADM1_ENST00000542447.2_Missense_Mutation_p.K409M|CADM1_ENST00000537058.1_Missense_Mutation_p.K448M|CADM1_ENST00000331581.6_Missense_Mutation_p.K466M	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GTACTCTTTCTTTTCTTCGGA	0.433																																																	0													277.0	252.0	260.0					11																	115047213		2201	4296	6497	SO:0001583	missense	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.1310A>T	11.37:g.115047213T>A	ENSP00000395359:p.Lys437Met			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.K437M	ENST00000452722.3	37	c.1310	CCDS8373.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.58|17.58	3.424126|3.424126	0.62733|0.62733	.|.	.|.	ENSG00000182985|ENSG00000182985	ENST00000542447;ENST00000452722;ENST00000537058;ENST00000536727;ENST00000404468;ENST00000331581;ENST00000541325|ENST00000545380	T;T;T;T;T|.	0.76186|.	-1.0;-0.59;-0.27;-0.66;-0.54|.	5.36|5.36	5.36|5.36	0.76844|0.76844	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.77961|0.77961	0.4209|0.4209	M|M	0.83312|0.83312	2.635|2.635	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.97110|.	0.999;0.996;1.0|.	T|T	0.80089|0.80089	-0.1528|-0.1528	10|6	0.87932|.	D|.	0|.	.|.	15.5185|15.5185	0.75846|0.75846	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	448;410;437|.	F5H0J4;A4FVB5;Q9BY67|.	.;.;CADM1_HUMAN|.	M|N	409;437;448;438;368;466;122|407	ENSP00000439176:K409M;ENSP00000395359:K437M;ENSP00000439817:K448M;ENSP00000440322:K438M;ENSP00000329797:K466M|.	ENSP00000329797:K466M|.	K|K	-|-	2|3	0|2	CADM1|CADM1	114552423|114552423	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.868000|7.868000	0.87116|0.87116	2.246000|2.246000	0.74042|0.74042	0.533000|0.533000	0.62120|0.62120	AAG|AAA	CADM1	-	NULL		0.433	CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CADM1	HGNC	protein_coding	OTTHUMT00000398753.2	T	NM_014333		115047213	-1	no_errors	ENST00000452722	ensembl	human	known	70_37	missense	SNP	1.000	A
CALHM2	51063	genome.wustl.edu	37	10	105209516	105209516	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:105209516G>A	ENST00000260743.5	-	3	706	c.183C>T	c.(181-183)atC>atT	p.I61I	CALHM2_ENST00000494180.1_5'UTR|CALHM2_ENST00000393235.1_Silent_p.I61I|RP11-225H22.7_ENST00000608063.1_RNA|CALHM2_ENST00000369788.3_Silent_p.I61I	NM_015916.4	NP_057000.2	Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	61					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CGGGCACGCCGATGGCCGCCA	0.652																																																	0													41.0	49.0	46.0					10																	105209516		2203	4299	6502	SO:0001819	synonymous_variant	51063			BC000039	CCDS7549.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000138172	ENSG00000138172			23493	protein-coding gene	gene with protein product		612235	"""family with sequence similarity 26, member B"""	FAM26B		18585350	Standard	NM_015916		Approved		uc001kxa.3	Q9HA72	OTTHUMG00000018990	ENST00000260743.5:c.183C>T	10.37:g.105209516G>A			D3DR94|O95893|Q6ZUV9	Silent	SNP	NULL	p.I61	ENST00000260743.5	37	c.183	CCDS7549.1	10																																																																																			CALHM2	-	NULL		0.652	CALHM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM2	HGNC	protein_coding	OTTHUMT00000050159.1	G	NM_015916		105209516	-1	no_errors	ENST00000260743	ensembl	human	known	70_37	silent	SNP	0.736	A
CCDC171	203238	genome.wustl.edu	37	9	15695319	15695319	+	Silent	SNP	G	G	A	rs527328493		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:15695319G>A	ENST00000380701.3	+	11	1630	c.1302G>A	c.(1300-1302)tcG>tcA	p.S434S	CCDC171_ENST00000297641.3_Silent_p.S434S	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	434																	TTACTGTGTCGGGCCAGTGGA	0.408													G|||	1	0.000199681	0.0	0.0	5008	,	,		20669	0.0		0.0	False		,,,				2504	0.001																0													153.0	141.0	145.0					9																	15695319		2203	4300	6503	SO:0001819	synonymous_variant	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1302G>A	9.37:g.15695319G>A			B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Silent	SNP	superfamily_STAT_TF_coiled-coil	p.S434	ENST00000380701.3	37	c.1302	CCDS6481.1	9																																																																																			CCDC171	-	NULL		0.408	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	G	NM_173550		15695319	+1	no_errors	ENST00000380701	ensembl	human	known	70_37	silent	SNP	0.996	A
CDK2AP2	10263	genome.wustl.edu	37	11	67274909	67274909	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:67274909G>A	ENST00000301488.3	-	3	788	c.240C>T	c.(238-240)gtC>gtT	p.V80V	PITPNM1_ENST00000436757.2_5'Flank|PITPNM1_ENST00000356404.3_5'Flank|CDK2AP2_ENST00000531506.1_Silent_p.V80V	NM_005851.3	NP_005842.1	O75956	CDKA2_HUMAN	cyclin-dependent kinase 2 associated protein 2	80										lung(1)	1						TCTCCTCTATGACTGACAGCA	0.612																																																	0													63.0	65.0	64.0					11																	67274909		2200	4295	6495	SO:0001819	synonymous_variant	10263			AF089814	CCDS8169.1	11q13	2010-05-17	2008-11-04		ENSG00000167797	ENSG00000167797			30833	protein-coding gene	gene with protein product	"""tumor suppressor deleted in oral cancer related 1"""		"""CDK2-associated protein 2"""			10082655	Standard	NM_005851		Approved	DOC-1R, p14	uc001oma.4	O75956		ENST00000301488.3:c.240C>T	11.37:g.67274909G>A				Silent	SNP	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2	p.V80	ENST00000301488.3	37	c.240	CCDS8169.1	11																																																																																			CDK2AP2	-	pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2		0.612	CDK2AP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK2AP2	HGNC	protein_coding	OTTHUMT00000395535.1	G	NM_005851		67274909	-1	no_errors	ENST00000301488	ensembl	human	known	70_37	silent	SNP	1.000	A
CELA2A	63036	genome.wustl.edu	37	1	15783232	15783232	+	5'UTR	SNP	A	A	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:15783232A>G	ENST00000359621.4	+	0	9					NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A							extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CGCTTACAGAACTCCCACGGA	0.537																																																	0													116.0	101.0	106.0					1																	15783232		2203	4300	6503	SO:0001623	5_prime_UTR_variant	63036				CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.-17A>G	1.37:g.15783232A>G			B2R5I4|Q14243	RNA	SNP	-	NULL	ENST00000359621.4	37	NULL	CCDS157.1	1																																																																																			CELA2A	-	-		0.537	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2A	HGNC	protein_coding	OTTHUMT00000006445.1	A	NM_033440		15783232	+1	no_errors	ENST00000459653	ensembl	human	known	70_37	rna	SNP	0.000	G
CFHR5	81494	genome.wustl.edu	37	1	196977806	196977806	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:196977806G>A	ENST00000256785.4	+	10	1812	c.1703G>A	c.(1702-1704)tGt>tAt	p.C568Y	CFHR5_ENST00000367414.5_Missense_Mutation_p.C592Y			Q9BXR6	FHR5_HUMAN	complement factor H-related 5	568	Sushi 9. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, alternative pathway (GO:0006957)	extracellular region (GO:0005576)				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TATCCTATATGTGAATGAAGC	0.343																																																	0													87.0	82.0	84.0					1																	196977806		2203	4300	6503	SO:0001583	missense	81494			AF295327	CCDS1387.1	1q31.3	2014-09-17		2006-02-28	ENSG00000134389	ENSG00000134389		"""Complement system"""	24668	protein-coding gene	gene with protein product	"""factor H related protein 5"""	608593		CFHL5		11058592, 12041828	Standard	NM_030787		Approved	FHR5, FHR-5	uc001gts.4	Q9BXR6	OTTHUMG00000036517	ENST00000256785.4:c.1703G>A	1.37:g.196977806G>A	ENSP00000256785:p.Cys568Tyr		Q2NKK2	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.C592Y	ENST00000256785.4	37	c.1775	CCDS1387.1	1	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612465	0.46631	.	.	ENSG00000134389	ENST00000367414;ENST00000256785	D;D	0.99422	-5.88;-5.88	4.62	3.7	0.42460	Complement control module (1);Sushi/SCR/CCP (1);	.	.	.	.	D	0.99456	0.9807	M	0.87827	2.91	0.20403	N	0.999902	D	0.89917	1.0	D	0.87578	0.998	D	0.97365	0.9972	9	0.87932	D	0	.	8.845	0.35164	0.1085:0.0:0.8915:0.0	.	568	Q9BXR6	FHR5_HUMAN	Y	592;568	ENSP00000356384:C592Y;ENSP00000256785:C568Y	ENSP00000256785:C568Y	C	+	2	0	CFHR5	195244429	0.978000	0.34361	0.242000	0.24170	0.013000	0.08279	1.840000	0.39230	1.049000	0.40321	0.561000	0.74099	TGT	CFHR5	-	superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.343	CFHR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR5	HGNC	protein_coding	OTTHUMT00000088814.2	G	NM_030787		196977806	+1	no_errors	ENST00000367414	ensembl	human	known	70_37	missense	SNP	0.415	A
CLTCL1	8218	genome.wustl.edu	37	22	19213066	19213066	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr22:19213066G>A	ENST00000263200.10	-	13	2110	c.2038C>T	c.(2038-2040)Cag>Tag	p.Q680*	CLTCL1_ENST00000427926.1_Nonsense_Mutation_p.Q680*|CLTCL1_ENST00000353891.5_Nonsense_Mutation_p.Q680*	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	680	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ACACACAGCTGAAGGTTCTGT	0.512			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													43.0	46.0	45.0					22																	19213066		2077	4230	6307	SO:0001587	stop_gained	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2038C>T	22.37:g.19213066G>A	ENSP00000445677:p.Gln680*		B7Z7U5|Q14017|Q15808|Q15809	Nonsense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.Q680*	ENST00000263200.10	37	c.2038	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	G	40	8.261069	0.98732	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	.	.	.	4.0	2.93	0.34026	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-11.0143	13.2529	0.60062	0.0:0.0:0.8283:0.1717	.	.	.	.	X	680	.	ENSP00000445677:Q680X	Q	-	1	0	CLTCL1	17593066	1.000000	0.71417	0.981000	0.43875	0.989000	0.77384	5.692000	0.68256	0.937000	0.37394	0.655000	0.94253	CAG	CLTCL1	-	superfamily_ARM-type_fold,pirsf_Clathrin_heavy_chain		0.512	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	G	NM_007098		19213066	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COLEC11	78989	genome.wustl.edu	37	2	3691113	3691113	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:3691113C>T	ENST00000349077.4	+	6	511	c.408C>T	c.(406-408)ctC>ctT	p.L136L	COLEC11_ENST00000418971.2_Silent_p.L150L|COLEC11_ENST00000382062.2_Silent_p.L112L|COLEC11_ENST00000404205.1_Silent_p.L62L|COLEC11_ENST00000402922.1_Silent_p.L86L|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000403096.3_Silent_p.L110L|COLEC11_ENST00000402794.1_Silent_p.L86L|COLEC11_ENST00000236693.7_Silent_p.L133L	NM_024027.4	NP_076932.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	136					developmental process (GO:0032502)|multicellular organismal development (GO:0007275)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)	mannose binding (GO:0005537)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CCAGCGAGCTCAAGTTCATCA	0.682																																																	0													82.0	68.0	73.0					2																	3691113		2203	4300	6503	SO:0001819	synonymous_variant	78989			BC000078	CCDS1649.1, CCDS1650.1, CCDS58689.1, CCDS58690.1, CCDS58691.1, CCDS58692.1, CCDS58693.1, CCDS58694.1	2p25.3	2014-09-17			ENSG00000118004	ENSG00000118004		"""Collectins"""	17213	protein-coding gene	gene with protein product	"""Collectin K1"""	612502					Standard	NM_024027		Approved	MGC3279, CL-K1	uc031rnn.1	Q9BWP8	OTTHUMG00000090304	ENST00000349077.4:c.408C>T	2.37:g.3691113C>T			A1IGE4|A1IGE5|A1IGE6|A7VJJ2|A7VJJ3|A7VJJ4|A7VJJ5|B2R9M5|B4E1G0|J3KQY9|Q5CZ85|Q7Z6N1	Silent	SNP	pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L150	ENST00000349077.4	37	c.450	CCDS1649.1	2																																																																																			COLEC11	-	NULL		0.682	COLEC11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COLEC11	HGNC	protein_coding	OTTHUMT00000206666.1	C	NM_024027		3691113	+1	no_errors	ENST00000418971	ensembl	human	known	70_37	silent	SNP	0.844	T
COX5A	9377	genome.wustl.edu	37	15	75219205	75219205	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr15:75219205C>T	ENST00000322347.6	-	3	394	c.241G>A	c.(241-243)Gat>Aat	p.D81N	COX5A_ENST00000562233.1_Intron|COX5A_ENST00000568783.1_Missense_Mutation_p.D81N|COX5A_ENST00000568517.1_5'UTR|COX5A_ENST00000567270.1_Missense_Mutation_p.D42N|COX5A_ENST00000564811.1_Missense_Mutation_p.D81N	NM_004255.3	NP_004246.2	P20674	COX5A_HUMAN	cytochrome c oxidase subunit Va	81					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)	cytochrome-c oxidase activity (GO:0004129)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|pancreas(1)	3						GGAACCATATCATAGGTAACA	0.388																																																	0													77.0	74.0	75.0					15																	75219205		2197	4295	6492	SO:0001583	missense	9377			M22760	CCDS10273.1	15q25	2011-07-04			ENSG00000178741	ENSG00000178741	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2267	protein-coding gene	gene with protein product		603773				10072584, 2853101	Standard	NM_004255		Approved		uc002azi.4	P20674	OTTHUMG00000142825	ENST00000322347.6:c.241G>A	15.37:g.75219205C>T	ENSP00000317780:p.Asp81Asn		P30045|Q8TB65	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6	p.D81N	ENST00000322347.6	37	c.241	CCDS10273.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.534900	0.96460	.	.	ENSG00000178741	ENST00000322347	.	.	.	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.86615	0.5975	M	0.92268	3.29	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89198	0.3555	9	0.87932	D	0	-16.8175	18.5377	0.91017	0.0:1.0:0.0:0.0	.	81	P20674	COX5A_HUMAN	N	81	.	ENSP00000317780:D81N	D	-	1	0	COX5A	73006258	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.345000	0.79337	2.726000	0.93360	0.655000	0.94253	GAT	COX5A	-	pfam_Cyt_c_oxidase_su5A/6,superfamily_Cyt_c_oxidase_su5A/6		0.388	COX5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX5A	HGNC	protein_coding	OTTHUMT00000286417.1	C	NM_004255		75219205	-1	no_errors	ENST00000322347	ensembl	human	known	70_37	missense	SNP	1.000	T
CTBP1	1487	genome.wustl.edu	37	4	1245063	1245063	+	5'Flank	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:1245063C>T	ENST00000290921.6	-	0	0				CTBP1-AS2_ENST00000357591.2_RNA|CTBP1_ENST00000382952.3_5'Flank|CTBP1-AS2_ENST00000505364.1_RNA|CTBP1-AS2_ENST00000581398.1_RNA|CTBP1-AS2_ENST00000578730.1_RNA|CTBP1-AS2_ENST00000514984.1_RNA|CTBP1-AS2_ENST00000507044.1_RNA	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1						Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CAAATGTGACCGTGTTGCTCA	0.607																																																	0																																										SO:0001631	upstream_gene_variant	92070			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259		4.37:g.1245063C>T	Exception_encountered		Q4W5N3|Q7Z2Q5	RNA	SNP	-	NULL	ENST00000290921.6	37	NULL	CCDS3348.1	4																																																																																			CTBP1-AS1	-	-		0.607	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1-AS1	HGNC	protein_coding	OTTHUMT00000202938.1	C	NM_001328		1245063	+1	no_errors	ENST00000357591	ensembl	human	known	70_37	rna	SNP	0.000	T
CTSE	1510	genome.wustl.edu	37	1	206325421	206325421	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:206325421T>C	ENST00000358184.2	+	5	764	c.646T>C	c.(646-648)Tct>Cct	p.S216P	CTSE_ENST00000361052.3_Missense_Mutation_p.S221P|CTSE_ENST00000432969.2_Missense_Mutation_p.S141P|CTSE_ENST00000468617.1_3'UTR|CTSE_ENST00000360218.2_Missense_Mutation_p.S216P	NM_001910.3	NP_001901.1	P14091	CATE_HUMAN	cathepsin E	221					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|digestion (GO:0007586)|protein autoprocessing (GO:0016540)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(3)	16			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCCGATGTTTTCTGTCTACAT	0.478																																																	0													125.0	107.0	113.0					1																	206325421		2203	4300	6503	SO:0001583	missense	1510			BC042537	CCDS73012.1, CCDS73013.1	1q32.1	2008-02-05			ENSG00000196188	ENSG00000196188	3.4.23.5	"""Cathepsins"""	2530	protein-coding gene	gene with protein product		116890				2369841, 2674141	Standard	NM_001910		Approved		uc001hdu.3	P14091	OTTHUMG00000036121	ENST00000358184.2:c.646T>C	1.37:g.206325421T>C	ENSP00000350911:p.Ser216Pro		Q5TZ01|Q5TZ02|Q9NY58|Q9UCE3|Q9UCE4	Missense_Mutation	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.S221P	ENST00000358184.2	37	c.661	CCDS1462.1	1	.	.	.	.	.	.	.	.	.	.	T	16.16	3.044963	0.55110	.	.	ENSG00000196188	ENST00000358184;ENST00000361052;ENST00000360218;ENST00000432969	T;T;T;T	0.71698	-0.59;-0.59;-0.38;-0.37	5.29	4.15	0.48705	.	0.000000	0.64402	D	0.000001	D	0.88388	0.6423	H	0.97587	4.035	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.70227	0.968;0.946;0.955	D	0.90569	0.4521	10	0.87932	D	0	.	11.3651	0.49666	0.136:0.0:0.0:0.864	.	141;216;216	B4DNU8;P14091-2;P14091-1	.;.;.	P	216;221;216;141	ENSP00000350911:S216P;ENSP00000354337:S221P;ENSP00000353350:S216P;ENSP00000394607:S141P	ENSP00000350911:S216P	S	+	1	0	CTSE	204492044	1.000000	0.71417	0.999000	0.59377	0.306000	0.27790	4.421000	0.59848	1.006000	0.39211	0.533000	0.62120	TCT	CTSE	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.478	CTSE-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTSE	HGNC	protein_coding	OTTHUMT00000087998.1	T	NM_001910		206325421	+1	no_errors	ENST00000361052	ensembl	human	known	70_37	missense	SNP	1.000	C
CXCR4	7852	genome.wustl.edu	37	2	136873458	136873458	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:136873458C>T	ENST00000241393.3	-	2	144	c.40G>A	c.(40-42)Gag>Aag	p.E14K	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000409817.1_Missense_Mutation_p.E18K	NM_003467.2	NP_003458.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	14	Important for chemokine binding, signaling and HIV-1 coreceptor activity.				activation of MAPK activity (GO:0000187)|ameboidal cell migration (GO:0001667)|apoptotic process (GO:0006915)|brain development (GO:0007420)|calcium-mediated signaling (GO:0019722)|cellular response to cytokine stimulus (GO:0071345)|chemokine-mediated signaling pathway (GO:0070098)|dendritic cell chemotaxis (GO:0002407)|entry into host cell (GO:0030260)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|inflammatory response (GO:0006954)|motor neuron axon guidance (GO:0008045)|myelin maintenance (GO:0043217)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|neutrophil activation (GO:0042119)|patterning of blood vessels (GO:0001569)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of oligodendrocyte differentiation (GO:0048714)|regulation of cell migration (GO:0030334)|regulation of chemotaxis (GO:0050920)|response to hypoxia (GO:0001666)|response to virus (GO:0009615)|T cell proliferation (GO:0042098)|viral process (GO:0016032)	cell leading edge (GO:0031252)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|G-protein coupled receptor activity (GO:0004930)|myosin light chain binding (GO:0032027)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)|virus receptor activity (GO:0001618)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)|Plerixafor(DB06809)	CCCATTTCCTCGGTGTAGTTA	0.393																																																	0													68.0	74.0	72.0					2																	136873458		2203	4300	6503	SO:0001583	missense	7852			AF005058	CCDS33295.1, CCDS46420.1	2q21	2014-09-17	2002-08-22		ENSG00000121966	ENSG00000121966		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : C-X-C motif"""	2561	protein-coding gene	gene with protein product		162643	"""chemokine (C-X-C motif), receptor 4 (fusin)"""			9599023, 9379028	Standard	NM_001008540		Approved	LESTR, NPY3R, HM89, NPYY3R, D2S201E, fusin, HSY3RR, NPYR, CD184	uc002tuz.3	P61073	OTTHUMG00000153583	ENST00000241393.3:c.40G>A	2.37:g.136873458C>T	ENSP00000241393:p.Glu14Lys		B2R5N0|O60835|P30991|P56438|Q53S69|Q9BXA0|Q9UKN2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CXCR4,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt	p.E18K	ENST00000241393.3	37	c.52	CCDS46420.1	2	.	.	.	.	.	.	.	.	.	.	C	16.59	3.165633	0.57476	.	.	ENSG00000121966	ENST00000409817;ENST00000241393	T;T	0.59772	0.24;0.24	5.88	5.88	0.94601	CXC chemokine receptor, type 4, N-terminal (1);	26.402500	0.00166	N	0.000000	T	0.47116	0.1428	L	0.27053	0.805	0.52501	D	0.999953	P;P	0.43519	0.676;0.809	B;B	0.31495	0.131;0.084	T	0.43343	-0.9397	10	0.33940	T	0.23	.	13.4253	0.61022	0.0:0.9285:0.0:0.0715	.	14;18	P61073;P61073-2	CXCR4_HUMAN;.	K	18;14	ENSP00000386884:E18K;ENSP00000241393:E14K	ENSP00000241393:E14K	E	-	1	0	CXCR4	136589928	0.997000	0.39634	0.928000	0.36995	0.919000	0.55068	4.369000	0.59511	2.789000	0.95967	0.655000	0.94253	GAG	CXCR4	-	pfam_Chemokine_CXCR4_N		0.393	CXCR4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CXCR4	HGNC	protein_coding	OTTHUMT00000331732.1	C			136873458	-1	no_errors	ENST00000409817	ensembl	human	known	70_37	missense	SNP	0.936	T
CYP2B7P	1556	genome.wustl.edu	37	19	41455118	41455118	+	RNA	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:41455118G>A	ENST00000597260.1	+	0	1098				CYP2B7P1_ENST00000599198.1_RNA																							CAACATACCAGATCTGCTTCC	0.577																																																	0																																												1556																															19.37:g.41455118G>A				RNA	SNP	-	NULL	ENST00000597260.1	37	NULL		19																																																																																			CYP2B7P1	-	-		0.577	AC092071.1-001	KNOWN	basic	sense_intronic	CYP2B7P1	HGNC	sense_intronic	OTTHUMT00000463563.1	G			41455118	+1	no_errors	ENST00000599198	ensembl	human	known	70_37	rna	SNP	0.753	A
DGCR6	8214	genome.wustl.edu	37	22	18899215	18899215	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr22:18899215G>A	ENST00000331444.6	+	0	828				DGCR6_ENST00000413981.1_3'UTR|DGCR6_ENST00000436645.1_3'UTR	NM_005675.4	NP_005666.2	Q14129	DGCR6_HUMAN	DiGeorge syndrome critical region gene 6						cell adhesion (GO:0007155)|organ morphogenesis (GO:0009887)	nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|upper_aerodigestive_tract(1)	3						ACAGGCAGCAGAAGTCTGGGC	0.642																																																	0													27.0	24.0	25.0					22																	18899215		2200	4294	6494	SO:0001624	3_prime_UTR_variant	8214			X96484	CCDS13753.1	22q11.21	2008-06-12			ENSG00000183628	ENSG00000183628			2846	protein-coding gene	gene with protein product		601279				8733130	Standard	NM_005675		Approved		uc002zoh.4	Q14129	OTTHUMG00000150162	ENST00000331444.6:c.*13G>A	22.37:g.18899215G>A			B2RCH5|D3DX15|G5E9J8|Q9BY28	RNA	SNP	-	NULL	ENST00000331444.6	37	NULL	CCDS13753.1	22																																																																																			DGCR6	-	-		0.642	DGCR6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR6	HGNC	protein_coding	OTTHUMT00000316631.2	G	NM_005675		18899215	+1	no_errors	ENST00000436645	ensembl	human	known	70_37	rna	SNP	0.000	A
DSP	1832	genome.wustl.edu	37	6	7583774	7583774	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:7583774C>T	ENST00000379802.3	+	24	6620	c.6279C>T	c.(6277-6279)atC>atT	p.I2093I	DSP_ENST00000418664.2_Silent_p.I1494I	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2093	4.5 X 38 AA tandem repeats (Domain A).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAAGCTATCACTGGTTTTG	0.453																																																	0													119.0	124.0	122.0					6																	7583774		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.6279C>T	6.37:g.7583774C>T			B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I2093	ENST00000379802.3	37	c.6279	CCDS4501.1	6																																																																																			DSP	-	smart_Plectin_repeat		0.453	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	C	NM_004415		7583774	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	silent	SNP	0.975	T
EDDM3B	64184	genome.wustl.edu	37	14	21238475	21238475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:21238475G>T	ENST00000326783.3	+	2	264	c.166G>T	c.(166-168)Gaa>Taa	p.E56*		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	56						extracellular region (GO:0005576)				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CCTCATGAGAGAAAATGAAGC	0.388																																																	0													110.0	106.0	107.0					14																	21238475		2203	4300	6503	SO:0001587	stop_gained	64184			X76386	CCDS9557.1	14q11.1	2010-03-19	2010-01-27	2010-01-27	ENSG00000181552	ENSG00000181552			19223	protein-coding gene	gene with protein product		611582	"""family with sequence similarity 12, member B (epididymal)"""	FAM12B		7514008	Standard	NM_022360		Approved	HE3-BETA	uc001vyd.3	P56851	OTTHUMG00000029583	ENST00000326783.3:c.166G>T	14.37:g.21238475G>T	ENSP00000314810:p.Glu56*		A0PK89	Nonsense_Mutation	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain	p.E56*	ENST00000326783.3	37	c.166	CCDS9557.1	14	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989763	0.74589	.	.	ENSG00000181552	ENST00000326783	.	.	.	4.05	2.16	0.27623	.	0.932944	0.08872	N	0.881480	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	5.3027	0.15788	0.1149:0.2083:0.6768:0.0	.	.	.	.	X	56	.	ENSP00000314810:E56X	E	+	1	0	EDDM3B	20308315	0.000000	0.05858	0.004000	0.12327	0.902000	0.53008	0.313000	0.19415	0.341000	0.23771	0.561000	0.74099	GAA	EDDM3B	-	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain		0.388	EDDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDDM3B	HGNC	protein_coding	OTTHUMT00000073745.2	G			21238475	+1	no_errors	ENST00000326783	ensembl	human	known	70_37	nonsense	SNP	0.002	T
EEF2	1938	genome.wustl.edu	37	19	3978083	3978083	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:3978083G>A	ENST00000309311.6	-	12	1889	c.1801C>T	c.(1801-1803)Cgg>Tgg	p.R601W		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	601					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|hematopoietic progenitor cell differentiation (GO:0002244)|positive regulation of gene expression (GO:0010628)|positive regulation of translation (GO:0045727)|translation (GO:0006412)|translational elongation (GO:0006414)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation activator activity (GO:0008494)|translation elongation factor activity (GO:0003746)			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGTACAGCCGGTTGTGCTTG	0.622																																					Colon(165;1804 1908 4071 6587 18799)												0													35.0	28.0	30.0					19																	3978083		2198	4296	6494	SO:0001583	missense	1938			Z11692	CCDS12117.1	19p13.3	2012-09-20			ENSG00000167658	ENSG00000167658			3214	protein-coding gene	gene with protein product	"""polypeptidyl-tRNA translocase"""	130610		EF2		2610926, 6427766	Standard	NM_001961		Approved	EEF-2	uc002lze.3	P13639		ENST00000309311.6:c.1801C>T	19.37:g.3978083G>A	ENSP00000307940:p.Arg601Trp		B2RMP5|D6W618|Q58J86	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom	p.R601W	ENST00000309311.6	37	c.1801	CCDS12117.1	19	.	.	.	.	.	.	.	.	.	.	G	21.9	4.214979	0.79352	.	.	ENSG00000167658	ENST00000309311	T	0.34667	1.35	5.61	1.83	0.25207	Ribosomal protein S5 domain 2-type fold (1);Ribosomal protein S5 domain 2-type fold, subgroup (1);	0.000000	0.85682	D	0.000000	T	0.75781	0.3896	H	0.99806	4.795	0.80722	D	1	D	0.89917	1.0	D	0.65573	0.936	D	0.87543	0.2460	10	0.87932	D	0	-35.1711	15.0648	0.71986	0.0:0.0:0.5735:0.4264	.	601	P13639	EF2_HUMAN	W	601	ENSP00000307940:R601W	ENSP00000307940:R601W	R	-	1	2	EEF2	3929083	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	2.967000	0.49216	0.667000	0.31107	0.491000	0.48974	CGG	EEF2	-	superfamily_Ribosomal_S5_D2-typ_fold		0.622	EEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF2	HGNC	protein_coding	OTTHUMT00000457615.2	G	NM_001961		3978083	-1	no_errors	ENST00000309311	ensembl	human	known	70_37	missense	SNP	1.000	A
EGR1	1958	genome.wustl.edu	37	5	137801471	137801471	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:137801471G>A	ENST00000239938.4	+	1	293	c.21G>A	c.(19-21)gaG>gaA	p.E7E		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	7					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCAAGGCCGAGATGCAGCTGA	0.657																																																	0													56.0	51.0	53.0					5																	137801471		2203	4300	6503	SO:0001819	synonymous_variant	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.21G>A	5.37:g.137801471G>A				Silent	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E7	ENST00000239938.4	37	c.21	CCDS4206.1	5																																																																																			EGR1	-	NULL		0.657	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	G	NM_001964		137801471	+1	no_errors	ENST00000239938	ensembl	human	known	70_37	silent	SNP	1.000	A
EHD1	10938	genome.wustl.edu	37	11	64622268	64622268	+	Missense_Mutation	SNP	G	G	T	rs199557517		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:64622268G>T	ENST00000320631.3	-	5	1396	c.1142C>A	c.(1141-1143)aCg>aAg	p.T381K	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Missense_Mutation_p.T381K	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	381					blood coagulation (GO:0007596)|cellular response to nerve growth factor stimulus (GO:1990090)|cholesterol homeostasis (GO:0042632)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|low-density lipoprotein particle clearance (GO:0034383)|neuron projection development (GO:0031175)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of myoblast fusion (GO:1901741)|protein homooligomerization (GO:0051260)	early endosome membrane (GO:0031901)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lipid particle (GO:0005811)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|recycling endosome membrane (GO:0055038)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTCATCCACCGTGTCCAGCAG	0.637																																																	0													224.0	211.0	215.0					11																	64622268		2201	4297	6498	SO:0001583	missense	10938			AF099011	CCDS8084.1, CCDS73315.1	11q13	2013-01-10			ENSG00000110047	ENSG00000110047		"""EF-hand domain containing"""	3242	protein-coding gene	gene with protein product	"""testilin"""	605888		PAST1		10395801, 10673336	Standard	NM_001282444		Approved	H-PAST, HPAST1, FLJ42622, FLJ44618	uc001obu.1	Q9H4M9	OTTHUMG00000066832	ENST00000320631.3:c.1142C>A	11.37:g.64622268G>T	ENSP00000320516:p.Thr381Lys		O14611|Q2M3Q4|Q9UNR3	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.T381K	ENST00000320631.3	37	c.1142	CCDS8084.1	11	.	.	.	.	.	.	.	.	.	.	G	13.60	2.286299	0.40494	.	.	ENSG00000110047	ENST00000320631;ENST00000359393;ENST00000541001;ENST00000421510	T;T;T	0.40476	2.36;2.36;1.03	4.32	4.32	0.51571	.	0.211530	0.49305	D	0.000146	T	0.23846	0.0577	N	0.10874	0.06	0.45852	D	0.998717	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.06481	-1.0824	10	0.17832	T	0.49	.	14.3322	0.66564	0.0:0.0:1.0:0.0	.	381;381	B2R5U3;Q9H4M9	.;EHD1_HUMAN	K	381;381;357;245	ENSP00000320516:T381K;ENSP00000352354:T381K;ENSP00000391429:T245K	ENSP00000320516:T381K	T	-	2	0	EHD1	64378844	1.000000	0.71417	0.988000	0.46212	0.989000	0.77384	6.216000	0.72212	2.263000	0.75096	0.561000	0.74099	ACG	EHD1	-	NULL		0.637	EHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHD1	HGNC	protein_coding	OTTHUMT00000143229.2	G	NM_006795		64622268	-1	no_errors	ENST00000320631	ensembl	human	known	70_37	missense	SNP	0.998	T
EHMT2	10919	genome.wustl.edu	37	6	31855591	31855591	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:31855591G>A	ENST00000375537.4	-	14	1899	c.1893C>T	c.(1891-1893)gcC>gcT	p.A631A	EHMT2_ENST00000375530.4_Silent_p.A597A|EHMT2_ENST00000395728.3_Silent_p.A688A|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.A654A	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	631					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CCTTTTCCAGGGCCTCCCGGC	0.662																																																	0													93.0	114.0	106.0					6																	31855591		1510	2706	4216	SO:0001819	synonymous_variant	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1893C>T	6.37:g.31855591G>A			B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Silent	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.A688	ENST00000375537.4	37	c.2064	CCDS4725.1	6																																																																																			EHMT2	-	NULL		0.662	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	G	NM_006709		31855591	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	silent	SNP	0.998	A
EHMT2	10919	genome.wustl.edu	37	6	31855658	31855658	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:31855658G>A	ENST00000375537.4	-	14	1832	c.1826C>T	c.(1825-1827)tCc>tTc	p.S609F	EHMT2_ENST00000375530.4_Missense_Mutation_p.S575F|EHMT2_ENST00000395728.3_Missense_Mutation_p.S666F|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.S632F	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	609					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGTCAGGGAGGGCCCTGA	0.682																																																	0													38.0	48.0	44.0					6																	31855658		1503	2701	4204	SO:0001583	missense	10919			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.1826C>T	6.37:g.31855658G>A	ENSP00000364687:p.Ser609Phe		B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.S666F	ENST00000375537.4	37	c.1997	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726979	0.69074	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.71817	-0.6;-0.5;-0.45;-0.59	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	T	0.57460	0.2055	L	0.38175	1.15	0.53005	D	0.999964	B;B;P;B	0.50819	0.031;0.045;0.939;0.01	B;B;P;B	0.45753	0.032;0.099;0.492;0.006	T	0.66044	-0.6021	10	0.87932	D	0	.	14.5681	0.68194	0.0:0.1472:0.8528:0.0	.	632;575;609;423	A2ABF8;Q96KQ7-2;Q96KQ7;Q59FM7	.;.;EHMT2_HUMAN;.	F	666;632;575;609;423	ENSP00000379078:S666F;ENSP00000364678:S632F;ENSP00000364680:S575F;ENSP00000364687:S609F	ENSP00000364678:S632F	S	-	2	0	EHMT2	31963637	0.993000	0.37304	0.855000	0.33649	0.832000	0.47134	2.945000	0.49043	2.615000	0.88500	0.555000	0.69702	TCC	EHMT2	-	NULL		0.682	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	G	NM_006709		31855658	-1	no_errors	ENST00000395728	ensembl	human	known	70_37	missense	SNP	0.978	A
LILRP2	79166	genome.wustl.edu	37	19	55220959	55220959	+	RNA	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:55220959G>T	ENST00000413439.1	+	0	948				AC098784.2_ENST00000583865.1_RNA					leukocyte immunoglobulin-like receptor pseudogene 2																		AGCTCTCCTGGATGCTGGACT	0.557																																					Ovarian(107;788 1543 20399 31552 46707)												0																																												0			AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55220959G>T				RNA	SNP	-	NULL	ENST00000413439.1	37	NULL		19																																																																																			AC006293.3	-	-		0.557	LILRP2-002	KNOWN	basic	processed_transcript	ENSG00000170858	Clone_based_vega_gene	pseudogene	OTTHUMT00000141240.2	G	NM_024317		55220959	+1	no_errors	ENST00000413439	ensembl	human	known	70_37	rna	SNP	0.000	T
ANKRD19P	138649	genome.wustl.edu	37	9	95646227	95646227	+	RNA	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:95646227C>T	ENST00000446878.1	+	0	0				ANKRD19P_ENST00000473204.1_RNA																							CTCCCAGTGTCCAGTAGGGCA	0.567																																																	0																																												0																															9.37:g.95646227C>T				RNA	SNP	-	NULL	ENST00000446878.1	37	NULL		9																																																																																			RP11-526D8.7	-	-		0.567	RP11-526D8.7-006	PUTATIVE	basic	processed_transcript	ENSG00000226668	Clone_based_vega_gene	pseudogene	OTTHUMT00000316907.1	C			95646227	+1	no_errors	ENST00000411450	ensembl	human	known	70_37	rna	SNP	0.021	T
OR14A2	388761	genome.wustl.edu	37	1	247886380	247886380	+	IGR	SNP	C	C	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:247886380C>G	ENST00000366485.1	-	0	945				RP11-634B7.5_ENST00000426444.1_RNA|RP11-634B7.4_ENST00000449298.1_RNA			Q96R54	O14A2_HUMAN	olfactory receptor, family 14, subfamily A, member 2							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										GGCACTGTATCACTGACAGAA	0.373																																																	0																																										SO:0001628	intergenic_variant	0			AB065620		1q44	2013-01-16	2008-04-02	2008-04-02	ENSG00000241128	ENSG00000241128		"""GPCR / Class A : Olfactory receptors"""	15024	other	unknown			"""olfactory receptor, family 5, subfamily AX, member 1 pseudogene"", ""olfactory receptor, family 5, subfamily AX, member 1"""	OR5AX1P, OR5AX1			Standard	NG_002409		Approved			Q96R54	OTTHUMG00000040207		1.37:g.247886380C>G				RNA	SNP	-	NULL	ENST00000366485.1	37	NULL		1																																																																																			RP11-634B7.5	-	-		0.373	OR14A2-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000239395	Clone_based_vega_gene	protein_coding	OTTHUMT00000096864.1	C	NG_002409		247886380	-1	no_errors	ENST00000426444	ensembl	human	known	70_37	rna	SNP	0.001	G
BIRC5	332	genome.wustl.edu	37	17	76212853	76212853	+	Missense_Mutation	SNP	G	G	C	rs77256336		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:76212853G>C	ENST00000350051.3	+	3	449	c.330G>C	c.(328-330)aaG>aaC	p.K110N	BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000589892.1_3'UTR|AC087645.1_ENST00000600484.1_Missense_Mutation_p.F248L|BIRC5_ENST00000301633.4_Missense_Mutation_p.K133N|BIRC5_ENST00000592734.1_Intron	NM_001168.2	NP_001159.2	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	110					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			AAAGAGCCAAGAACAAAATTG	0.398																																																	0													62.0	67.0	65.0					17																	76212853		2203	4300	6503	SO:0001583	missense	0			U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000350051.3:c.330G>C	17.37:g.76212853G>C	ENSP00000324180:p.Lys110Asn		A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Missense_Mutation	SNP	NULL	p.F248L	ENST00000350051.3	37	c.744	CCDS11755.1	17	.	.	.	.	.	.	.	.	.	.	G	17.33	3.362711	0.61403	.	.	ENSG00000089685	ENST00000301633;ENST00000350051;ENST00000432014	T;T	0.03920	3.76;3.76	5.7	3.47	0.39725	Baculoviral inhibition of apoptosis protein repeat (1);	0.525169	0.22458	N	0.059792	T	0.13500	0.0327	M	0.72894	2.215	0.80722	D	1	P;D;D;D	0.76494	0.842;0.997;0.991;0.999	P;D;D;D	0.66979	0.5;0.928;0.948;0.947	T	0.02417	-1.1162	10	0.51188	T	0.08	-0.4831	2.8668	0.05604	0.204:0.0:0.5446:0.2514	.	110;110;133;110	O15392-4;O15392;O15392-2;A3E0Z5	.;BIRC5_HUMAN;.;.	N	133;110;133	ENSP00000301633:K133N;ENSP00000324180:K110N	ENSP00000301633:K133N	K	+	3	2	BIRC5	73724448	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.462000	0.45049	1.360000	0.45960	0.455000	0.32223	AAG	AC087645.1	-	NULL		0.398	BIRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268310	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000437231.2	G	NM_001168		76212853	-1	no_errors	ENST00000600484	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM160B2	64760	genome.wustl.edu	37	8	21958969	21958969	+	Silent	SNP	C	C	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:21958969C>G	ENST00000289921.7	+	13	1681	c.1635C>G	c.(1633-1635)ccC>ccG	p.P545P		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	545										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						GCCTGGTCCCCGAGGAAGCCA	0.617																																																	0													45.0	51.0	49.0					8																	21958969		1999	4177	6176	SO:0001819	synonymous_variant	64760			AK025454	CCDS6021.2	8p21.3	2012-11-30	2008-06-05	2008-06-05	ENSG00000158863	ENSG00000158863			16492	protein-coding gene	gene with protein product			"""retinoic acid induced 16"""	RAI16		22971576, 15626329	Standard	XR_247128		Approved	FLJ21801	uc011kyx.2	Q86V87	OTTHUMG00000097088	ENST00000289921.7:c.1635C>G	8.37:g.21958969C>G			B2RDQ5|B3KNX1|Q2M211|Q71JB5|Q7L3J6|Q969T0|Q9H6W4	Silent	SNP	pfam_RetinoicA-induced_16-like	p.P545	ENST00000289921.7	37	c.1635	CCDS6021.2	8																																																																																			FAM160B2	-	NULL		0.617	FAM160B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM160B2	HGNC	protein_coding	OTTHUMT00000375334.2	C			21958969	+1	no_errors	ENST00000289921	ensembl	human	known	70_37	silent	SNP	0.032	G
FAM198B	51313	genome.wustl.edu	37	4	159092077	159092077	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:159092077G>A	ENST00000296530.8	-	2	1072	c.451C>T	c.(451-453)Cag>Tag	p.Q151*	FAM198B_ENST00000393807.5_Nonsense_Mutation_p.Q151*|FAM198B_ENST00000585682.1_Nonsense_Mutation_p.Q151*|RP11-597D13.9_ENST00000505532.1_RNA|RP11-597D13.9_ENST00000509463.1_RNA|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000592057.1_Nonsense_Mutation_p.Q151*|RP11-597D13.9_ENST00000514381.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	151						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TCCTGCGGCTGAAGGGATGGT	0.617																																																	0													61.0	61.0	61.0					4																	159092077		2203	4299	6502	SO:0001587	stop_gained	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.451C>T	4.37:g.159092077G>A	ENSP00000296530:p.Gln151*		Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Nonsense_Mutation	SNP	NULL	p.Q151*	ENST00000296530.8	37	c.451	CCDS3798.1	4	.	.	.	.	.	.	.	.	.	.	G	40	8.094467	0.98651	.	.	ENSG00000164125	ENST00000337222;ENST00000296530;ENST00000393807;ENST00000417442	.	.	.	4.74	3.87	0.44632	.	1.155160	0.06147	N	0.673538	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-31.272	11.9763	0.53094	0.0:0.0:0.6744:0.3256	.	.	.	.	X	151	.	ENSP00000296530:Q151X	Q	-	1	0	FAM198B	159311527	0.003000	0.15002	0.111000	0.21465	0.950000	0.60333	1.442000	0.35046	1.168000	0.42723	0.655000	0.94253	CAG	FAM198B	-	NULL		0.617	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	G	NM_001031700, NM_016613		159092077	-1	no_errors	ENST00000393807	ensembl	human	known	70_37	nonsense	SNP	0.012	A
GDF10	2662	genome.wustl.edu	37	10	48438679	48438679	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:48438679C>G	ENST00000224605.2	-	1	297	c.32G>C	c.(31-33)gGa>gCa	p.G11A		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	11					fat cell differentiation (GO:0045444)|growth (GO:0040007)|skeletal system development (GO:0001501)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular space (GO:0005615)	growth factor activity (GO:0008083)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGGCCCGGGTCCCGGGCTGGT	0.721																																																	0													6.0	9.0	8.0					10																	48438679		1741	3794	5535	SO:0001583	missense	2662			L42113	CCDS73117.1	10q11.22	2014-04-10			ENSG00000107623	ENSG00000266524		"""Endogenous ligands"""	4215	protein-coding gene	gene with protein product		601361				8679252	Standard	NM_004962		Approved	BMP-3b	uc001jfb.3	P55107	OTTHUMG00000188319	ENST00000224605.2:c.32G>C	10.37:g.48438679C>G	ENSP00000224605:p.Gly11Ala		Q5VSQ8|Q9UCX6	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10	p.G11A	ENST00000224605.2	37	c.32	CCDS7220.1	10	.	.	.	.	.	.	.	.	.	.	C	9.445	1.089096	0.20390	.	.	ENSG00000107623	ENST00000224605	T	0.74737	-0.87	3.2	-0.173	0.13322	.	0.716917	0.11471	N	0.560731	T	0.55625	0.1932	N	0.24115	0.695	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.46707	-0.9172	10	0.56958	D	0.05	.	4.9527	0.14023	0.0:0.44:0.4282:0.1317	.	11	P55107	BMP3B_HUMAN	A	11	ENSP00000224605:G11A	ENSP00000224605:G11A	G	-	2	0	GDF10	48058685	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.380000	0.07427	0.181000	0.19994	0.563000	0.77884	GGA	GDF10	-	pirsf_BMP3/GDF10		0.721	GDF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF10	HGNC	protein_coding	OTTHUMT00000047884.1	C	NM_004962		48438679	-1	no_errors	ENST00000224605	ensembl	human	known	70_37	missense	SNP	0.000	G
GOLGA5	9950	genome.wustl.edu	37	14	93264171	93264171	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:93264171C>T	ENST00000163416.2	+	2	645	c.389C>T	c.(388-390)tCa>tTa	p.S130L	GOLGA5_ENST00000355976.2_Missense_Mutation_p.S130L	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	130					Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		CTTAATAGTTCACAGAAGGAG	0.448			T	RET	papillary thyroid																																			Dom	yes		14	14q	9950	"""golgi autoantigen, golgin subfamily a, 5  (PTC5)"""		E	0													65.0	65.0	65.0					14																	93264171		2203	4300	6503	SO:0001583	missense	9950			AF085199	CCDS9905.1	14q32.12	2012-05-04	2010-02-12		ENSG00000066455	ENSG00000066455			4428	protein-coding gene	gene with protein product	"""golgi integral membrane protein 5"""	606918	"""golgi autoantigen, golgin subfamily a, 5"""			2734021, 9443391, 15004235	Standard	NM_005113		Approved	ret-II, golgin-84, rfg5, GOLIM5	uc001yaz.1	Q8TBA6	OTTHUMG00000171217	ENST00000163416.2:c.389C>T	14.37:g.93264171C>T	ENSP00000163416:p.Ser130Leu		C9JRU1|O95287|Q03962|Q2TS49|Q9UQQ7	Missense_Mutation	SNP	pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin	p.S130L	ENST00000163416.2	37	c.389	CCDS9905.1	14	.	.	.	.	.	.	.	.	.	.	C	29.3	4.997999	0.93227	.	.	ENSG00000066455	ENST00000163416;ENST00000355976	T;T	0.43294	0.96;0.95	5.65	5.65	0.86999	.	0.000000	0.43919	D	0.000514	T	0.61337	0.2339	M	0.67953	2.075	0.80722	D	1	D	0.65815	0.995	P	0.58721	0.844	T	0.60924	-0.7166	10	0.56958	D	0.05	-10.2435	20.0965	0.97849	0.0:1.0:0.0:0.0	.	130	Q8TBA6	GOGA5_HUMAN	L	130	ENSP00000163416:S130L;ENSP00000348252:S130L	ENSP00000163416:S130L	S	+	2	0	GOLGA5	92333924	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.765000	0.74965	2.824000	0.97209	0.655000	0.94253	TCA	GOLGA5	-	NULL		0.448	GOLGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA5	HGNC	protein_coding	OTTHUMT00000412365.1	C			93264171	+1	no_errors	ENST00000163416	ensembl	human	known	70_37	missense	SNP	1.000	T
GRAMD1C	54762	genome.wustl.edu	37	3	113659095	113659095	+	Missense_Mutation	SNP	C	C	G	rs138486935		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:113659095C>G	ENST00000358160.4	+	17	2303	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	GRAMD1C_ENST00000440446.2_Missense_Mutation_p.S399C|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.S437C|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.S333C|GRAMD1C_ENST00000479212.1_3'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	604						integral component of membrane (GO:0016021)				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						AGTTTAGCCTCTGATATGGTG	0.388																																																	0													110.0	115.0	113.0					3																	113659095		2203	4300	6503	SO:0001583	missense	54762				CCDS33826.1, CCDS54625.1	3q13.31	2005-11-02			ENSG00000178075	ENSG00000178075			25252	protein-coding gene	gene with protein product						12975309	Standard	NM_017577		Approved	DKFZp434C0328	uc003eaq.4	Q8IYS0	OTTHUMG00000159340	ENST00000358160.4:c.1811C>G	3.37:g.113659095C>G	ENSP00000350881:p.Ser604Cys		A8K9Y1|A8KA99|Q6AW94|Q6UWN1|Q8N6S0|Q9UF46	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.S604C	ENST00000358160.4	37	c.1811	CCDS33826.1	3	.	.	.	.	.	.	.	.	.	.	C	16.18	3.050930	0.55218	.	.	ENSG00000178075	ENST00000358160;ENST00000452134;ENST00000472026;ENST00000440446	T;T;T;T	0.47869	1.44;0.83;0.86;0.84	5.87	5.87	0.94306	.	0.376565	0.27379	N	0.019638	T	0.62466	0.2430	M	0.63428	1.95	0.30501	N	0.770391	D;D	0.76494	0.999;0.998	P;P	0.62560	0.904;0.818	T	0.65961	-0.6041	10	0.72032	D	0.01	.	13.0012	0.58676	0.0:0.9226:0.0:0.0774	.	437;604	E9PHT3;Q8IYS0	.;GRM1C_HUMAN	C	604;333;437;399	ENSP00000350881:S604C;ENSP00000399844:S333C;ENSP00000419132:S437C;ENSP00000408135:S399C	ENSP00000350881:S604C	S	+	2	0	GRAMD1C	115141785	1.000000	0.71417	0.652000	0.29579	0.215000	0.24574	4.365000	0.59486	2.785000	0.95823	0.650000	0.86243	TCT	GRAMD1C	-	NULL		0.388	GRAMD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD1C	HGNC	protein_coding	OTTHUMT00000354733.1	C	NM_017577		113659095	+1	no_errors	ENST00000358160	ensembl	human	known	70_37	missense	SNP	0.966	G
GRAMD2	196996	genome.wustl.edu	37	15	72457721	72457721	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr15:72457721C>T	ENST00000309731.7	-	8	587	c.574G>A	c.(574-576)Gaa>Aaa	p.E192K	GRAMD2_ENST00000564184.1_5'UTR	NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	192						integral component of membrane (GO:0016021)				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						CCTGAAAATTCTCTTACACTC	0.547																																																	0													105.0	106.0	105.0					15																	72457721		2199	4297	6496	SO:0001583	missense	196996			AK002016	CCDS32283.1	15q23	2006-11-29	2005-11-03	2005-11-03					27287	protein-coding gene	gene with protein product						12477932	Standard	NM_001012642		Approved		uc002atq.3	Q8IUY3		ENST00000309731.7:c.574G>A	15.37:g.72457721C>T	ENSP00000311657:p.Glu192Lys		B3KT68	Missense_Mutation	SNP	pfam_GRAM,smart_GRAM	p.E192K	ENST00000309731.7	37	c.574	CCDS32283.1	15	.	.	.	.	.	.	.	.	.	.	C	6.722	0.501939	0.12822	.	.	ENSG00000175318	ENST00000309731	T	0.33216	1.42	5.4	2.22	0.28083	.	0.277048	0.34879	N	0.003612	T	0.17152	0.0412	L	0.29908	0.895	0.37729	D	0.925218	B	0.09022	0.002	B	0.11329	0.006	T	0.12785	-1.0534	10	0.19590	T	0.45	.	4.3283	0.11051	0.0:0.5829:0.1818:0.2353	.	192	Q8IUY3	GRAM2_HUMAN	K	192	ENSP00000311657:E192K	ENSP00000311657:E192K	E	-	1	0	GRAMD2	70244775	1.000000	0.71417	0.208000	0.23602	0.194000	0.23727	1.098000	0.31000	0.117000	0.18138	-0.818000	0.03119	GAA	GRAMD2	-	NULL		0.547	GRAMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD2	HGNC	protein_coding	OTTHUMT00000420040.1	C	NM_001012642		72457721	-1	no_errors	ENST00000309731	ensembl	human	known	70_37	missense	SNP	0.997	T
GRPR	2925	genome.wustl.edu	37	X	16170721	16170721	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:16170721A>G	ENST00000380289.2	+	3	1506	c.1108A>G	c.(1108-1110)Acc>Gcc	p.T370A	RP11-431J24.2_ENST00000435789.1_RNA|RP11-431J24.2_ENST00000422438.1_RNA|RP11-431J24.2_ENST00000454712.2_RNA	NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	370					cell proliferation (GO:0008283)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cell proliferation (GO:0042127)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	bombesin receptor activity (GO:0004946)|G-protein coupled peptide receptor activity (GO:0008528)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCGTGGCCACCTTTAGCCT	0.537																																																	0													166.0	153.0	158.0					X																	16170721		2203	4300	6503	SO:0001583	missense	2925				CCDS14174.1	Xp22.2	2014-02-21			ENSG00000126010	ENSG00000126010		"""GPCR / Class A : Bombesin receptors"""	4609	protein-coding gene	gene with protein product	"""bombesin receptor 2"""	305670					Standard	NM_005314		Approved	BB2	uc004cxj.3	P30550	OTTHUMG00000021189	ENST00000380289.2:c.1108A>G	X.37:g.16170721A>G	ENSP00000369643:p.Thr370Ala		B2R910	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T370A	ENST00000380289.2	37	c.1108	CCDS14174.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.89|14.89	2.671470|2.671470	0.47781|0.47781	.|.	.|.	ENSG00000126010|ENSG00000126010	ENST00000535371|ENST00000380289	.|T	.|0.64803	.|-0.12	5.62|5.62	4.43|4.43	0.53597|0.53597	.|.	.|0.275542	.|0.34291	.|N	.|0.004096	T|T	0.57257|0.57257	0.2041|0.2041	M|M	0.65498|0.65498	2.005|2.005	0.33744|0.33744	D|D	0.619852|0.619852	.|B	.|0.15141	.|0.012	.|B	.|0.12837	.|0.008	T|T	0.60234|0.60234	-0.7303|-0.7303	6|10	0.36615|0.25751	T|T	0.2|0.34	-29.8486|-29.8486	10.1257|10.1257	0.42648|0.42648	0.9205:0.0:0.0795:0.0|0.9205:0.0:0.0795:0.0	.|.	.|370	.|P30550	.|GRPR_HUMAN	R|A	158|370	.|ENSP00000369643:T370A	ENSP00000442239:H158R|ENSP00000369643:T370A	H|T	+|+	2|1	0|0	GRPR|GRPR	16080642|16080642	0.999000|0.999000	0.42202|0.42202	0.996000|0.996000	0.52242|0.52242	0.957000|0.957000	0.61999|0.61999	4.080000|4.080000	0.57620|0.57620	0.740000|0.740000	0.32651|0.32651	0.486000|0.486000	0.48141|0.48141	CAC|ACC	GRPR	-	prints_Gastrin_pep_rcpt		0.537	GRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRPR	HGNC	protein_coding	OTTHUMT00000055901.1	A	NM_005314		16170721	+1	no_errors	ENST00000380289	ensembl	human	known	70_37	missense	SNP	1.000	G
GTDC1	79712	genome.wustl.edu	37	2	144969112	144969113	+	5'UTR	INS	-	-	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:144969112_144969113insG	ENST00000392869.2	-	0	98_99				GTDC1_ENST00000467352.1_5'UTR|GTDC1_ENST00000344850.4_5'UTR|GTDC1_ENST00000542155.1_5'UTR|GTDC1_ENST00000463875.2_Intron|GTDC1_ENST00000392867.3_5'UTR|GTDC1_ENST00000409298.1_5'UTR|GTDC1_ENST00000241391.5_5'UTR|GTDC1_ENST00000409214.1_5'UTR	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process (GO:0009058)		transferase activity, transferring glycosyl groups (GO:0016757)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CAAGATGAAAATGCGTTCTTCC	0.381																																																	0																																										SO:0001623	5_prime_UTR_variant	79712			AY281366	CCDS2185.1, CCDS33300.1, CCDS63029.1, CCDS74582.1, CCDS74583.1	2q22.3	2013-02-22			ENSG00000121964	ENSG00000121964		"""Glycosyltransferase group 1 domain containing"""	20887	protein-coding gene	gene with protein product	"""mannosyltransferase-like"""	610165				15068588, 21821951	Standard	NM_024659		Approved	FLJ11753, Hmat-Xa	uc010fnn.3	Q4AE62	OTTHUMG00000131835	ENST00000392869.2:c.-55->C	2.37:g.144969112_144969113insG			A8K5P2|D3DP81|Q53SM7|Q53TC5|Q6P7E7|Q6PJB6|Q6WKW6|Q9HAE5	RNA	INS	-	NULL	ENST00000392869.2	37	NULL	CCDS33300.1	2																																																																																			GTDC1	-	-		0.381	GTDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTDC1	HGNC	protein_coding	OTTHUMT00000254779.2	-	NM_024659		144969113	-1	no_errors	ENST00000467352	ensembl	human	known	70_37	rna	INS	0.990:0.988	G
HAX1	10456	genome.wustl.edu	37	1	154245995	154245995	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:154245995C>T	ENST00000328703.7	+	2	450	c.237C>T	c.(235-237)ttC>ttT	p.F79F	HAX1_ENST00000457918.2_Silent_p.F31F|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000483970.2_Silent_p.F79F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	79					cellular response to cytokine stimulus (GO:0071345)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin filament polymerization (GO:0030833)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein targeting to mitochondrion (GO:1903214)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|lamellipodium (GO:0030027)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|sarcoplasmic reticulum (GO:0016529)|transcription factor complex (GO:0005667)	interleukin-1 binding (GO:0019966)|protein N-terminus binding (GO:0047485)			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ACGATAACTTCGGCTTTGATG	0.542									Kostmann syndrome																																								0													104.0	95.0	98.0					1																	154245995		2203	4300	6503	SO:0001819	synonymous_variant	10456	Familial Cancer Database	Kostmann Infantile Agranulocytosis, Severe Congenital Neutropenia, Congenital Agranulocytosis	U68566	CCDS1064.1, CCDS44230.1	1q21.3	2014-09-17			ENSG00000143575	ENSG00000143575			16915	protein-coding gene	gene with protein product	"""HCLS1 (and PKD2) associated protein"""	605998				9058808, 10760273	Standard	NM_006118		Approved	HS1BP1, HCLSBP1	uc001fes.3	O00165	OTTHUMG00000035978	ENST00000328703.7:c.237C>T	1.37:g.154245995C>T			A8W4W9|A8W4X0|B4DUJ7|Q5VYD5|Q5VYD7|Q96AU4|Q9BS80	Silent	SNP	pirsf_HS1--assoc_X-1	p.F79	ENST00000328703.7	37	c.237	CCDS1064.1	1																																																																																			HAX1	-	pirsf_HS1--assoc_X-1		0.542	HAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAX1	HGNC	protein_coding	OTTHUMT00000087650.1	C	NM_006118		154245995	+1	no_errors	ENST00000483970	ensembl	human	known	70_37	silent	SNP	0.997	T
HELZ2	85441	genome.wustl.edu	37	20	62191301	62191301	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:62191301T>C	ENST00000467148.1	-	18	7874	c.7805A>G	c.(7804-7806)cAg>cGg	p.Q2602R	HELZ2_ENST00000427522.2_Missense_Mutation_p.Q2033R	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2602	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GAGCCCCTCCTGGGCCCGCGT	0.652																																																	0													53.0	54.0	54.0					20																	62191301		2203	4300	6503	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7805A>G	20.37:g.62191301T>C	ENSP00000417401:p.Gln2602Arg		Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.Q2602R	ENST00000467148.1	37	c.7805	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	T	13.59	2.283296	0.40394	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.91740	-2.9;-2.9	3.81	2.7	0.31948	.	0.353175	0.26673	N	0.023092	T	0.81206	0.4774	N	0.05608	-0.01	0.39110	D	0.961463	B;B	0.13594	0.008;0.007	B;B	0.23150	0.044;0.026	T	0.70930	-0.4738	10	0.36615	T	0.2	-17.9337	7.4977	0.27498	0.0:0.1016:0.0:0.8984	.	2602;2033	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	R	2033;2602	ENSP00000393257:Q2033R;ENSP00000417401:Q2602R	ENSP00000393257:Q2033R	Q	-	2	0	RP4-697K14.7	61661745	1.000000	0.71417	0.998000	0.56505	0.804000	0.45430	3.291000	0.51764	0.383000	0.24910	0.379000	0.24179	CAG	HELZ2	-	NULL		0.652	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	T	NM_001037335		62191301	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	1.000	C
HPCAL4	51440	genome.wustl.edu	37	1	40149741	40149741	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:40149741G>A	ENST00000372844.3	-	3	637	c.246C>T	c.(244-246)ttC>ttT	p.F82F		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	82	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TGAACTCCCGGAAGTCGATGG	0.647																																																	0													54.0	52.0	53.0					1																	40149741		2203	4300	6503	SO:0001819	synonymous_variant	51440			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.246C>T	1.37:g.40149741G>A			B2R5U2|D3DPU1|Q5TG97|Q8N611	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.F82	ENST00000372844.3	37	c.246	CCDS441.1	1																																																																																			HPCAL4	-	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.647	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	G	NM_016257		40149741	-1	no_errors	ENST00000372844	ensembl	human	known	70_37	silent	SNP	1.000	A
IGSF1	3547	genome.wustl.edu	37	X	130411002	130411002	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:130411002C>A	ENST00000361420.3	-	14	2598	c.2519G>T	c.(2518-2520)gGc>gTc	p.G840V	IGSF1_ENST00000370903.3_Missense_Mutation_p.G845V|IGSF1_ENST00000467244.1_5'UTR|IGSF1_ENST00000370910.1_Missense_Mutation_p.G831V|IGSF1_ENST00000370904.1_Missense_Mutation_p.G831V			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	840	Ig-like C2-type 8.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ATCACCAATGCCCACCGAAAT	0.507																																																	0													177.0	182.0	180.0					X																	130411002		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.2519G>T	X.37:g.130411002C>A	ENSP00000355010:p.Gly840Val		B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G845V	ENST00000361420.3	37	c.2534	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	C	14.12	2.440258	0.43326	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.12147	2.71;2.71;2.71;2.71	5.39	4.51	0.55191	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.413669	0.23063	N	0.052343	T	0.26521	0.0648	L	0.42686	1.345	0.53688	D	0.999977	P;D;D	0.89917	0.952;0.99;1.0	P;D;D	0.91635	0.748;0.952;0.999	T	0.00536	-1.1683	10	0.56958	D	0.05	.	9.4229	0.38561	0.0:0.8944:0.0:0.1056	.	831;284;840	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	V	831;840;831;845	ENSP00000359947:G831V;ENSP00000355010:G840V;ENSP00000359941:G831V;ENSP00000359940:G845V	ENSP00000355010:G840V	G	-	2	0	IGSF1	130238683	0.043000	0.20138	0.995000	0.50966	0.598000	0.36846	1.607000	0.36836	2.393000	0.81446	0.600000	0.82982	GGC	IGSF1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.507	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	C			130411002	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	missense	SNP	0.812	A
ITCH	83737	genome.wustl.edu	37	20	33077688	33077688	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:33077688G>C	ENST00000262650.6	+	23	2535	c.2399G>C	c.(2398-2400)cGt>cCt	p.R800P	ITCH_ENST00000535650.1_Missense_Mutation_p.R649P|ITCH_ENST00000374864.4_Missense_Mutation_p.R759P			Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	800	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of apoptotic process (GO:0043066)|negative regulation of defense response to virus (GO:0050687)|negative regulation of JNK cascade (GO:0046329)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cell growth (GO:0001558)|regulation of protein deubiquitination (GO:0090085)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	CXCR chemokine receptor binding (GO:0045236)|ligase activity (GO:0016874)|ribonucleoprotein complex binding (GO:0043021)|ubiquitin-protein transferase activity (GO:0004842)	p.R759H(1)		NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						GCCATCTACCGTCATTATGCA	0.343																																																	1	Substitution - Missense(1)	endometrium(1)											153.0	147.0	149.0					20																	33077688		2203	4300	6503	SO:0001583	missense	83737			AF095745	CCDS13234.1, CCDS58768.1, CCDS58769.1	20q11.22	2014-09-17	2012-02-23		ENSG00000078747	ENSG00000078747			13890	protein-coding gene	gene with protein product		606409	"""itchy (mouse homolog) E3 ubiquitin protein ligase"", ""itchy E3 ubiquitin protein ligase homolog (mouse)"""			11318614	Standard	NM_001257137		Approved	AIP4	uc010geu.2	Q96J02	OTTHUMG00000032300	ENST00000262650.6:c.2399G>C	20.37:g.33077688G>C	ENSP00000262650:p.Arg800Pro		A6NEW4|B4E234|E1P5P3|F5H217|O43584|Q5QP37|Q5TEL0|Q96F66|Q9BY75|Q9H451|Q9H4U5	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.R800P	ENST00000262650.6	37	c.2399	CCDS58768.1	20	.	.	.	.	.	.	.	.	.	.	G	30	5.055489	0.93793	.	.	ENSG00000078747	ENST00000374864;ENST00000535650;ENST00000262650	T;T;T	0.42513	0.97;0.97;0.97	5.72	5.72	0.89469	HECT (4);	0.000000	0.85682	D	0.000000	T	0.75133	0.3808	M	0.93550	3.43	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.81914	0.995;0.99;0.994	T	0.80979	-0.1140	10	0.87932	D	0	.	19.8252	0.96614	0.0:0.0:1.0:0.0	.	711;800;759	B4DN85;Q96J02;Q5QP37	.;ITCH_HUMAN;.	P	759;649;800	ENSP00000363998:R759P;ENSP00000445608:R649P;ENSP00000262650:R800P	ENSP00000262650:R800P	R	+	2	0	ITCH	32541349	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.789000	0.99068	2.859000	0.98148	0.591000	0.81541	CGT	ITCH	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.343	ITCH-002	KNOWN	basic|CCDS	protein_coding	ITCH	HGNC	protein_coding	OTTHUMT00000078783.2	G			33077688	+1	no_errors	ENST00000262650	ensembl	human	known	70_37	missense	SNP	1.000	C
ITIH6	347365	genome.wustl.edu	37	X	54823504	54823504	+	Missense_Mutation	SNP	C	C	T	rs141798202	byFrequency	TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:54823504C>T	ENST00000218436.6	-	2	157	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	43	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										CACCGTGGAGCGCATAGAATA	0.502																																																	0								C	HIS/ARG	0,3835		0,0,0,1632,571	125.0	96.0	106.0		128	-3.2	0.0	X	dbSNP_134	106	5,6723		0,2,3,2426,1869	yes	missense	ITIH5L	NM_198510.2	29	0,2,3,4058,2440	TT,TC,T,CC,C		0.0743,0.0,0.0473	benign	43/1314	54823504	5,10558	2203	4300	6503	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.128G>A	X.37:g.54823504C>T	ENSP00000218436:p.Arg43His		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.R43H	ENST00000218436.6	37	c.128	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	C	10.16	1.273231	0.23221	0.0	7.43E-4	ENSG00000102313	ENST00000218436	T	0.22539	1.95	4.39	-3.15	0.05233	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.435830	0.19010	N	0.125111	T	0.08492	0.0211	N	0.11201	0.11	0.09310	N	1	B	0.22851	0.076	B	0.22753	0.041	T	0.21621	-1.0240	10	0.28530	T	0.3	.	7.5571	0.27831	0.1062:0.4067:0.0:0.4871	.	43	Q6UXX5	ITH5L_HUMAN	H	43	ENSP00000218436:R43H	ENSP00000218436:R43H	R	-	2	0	ITIH5L	54840229	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.734000	0.04893	-1.198000	0.02669	-1.266000	0.01441	CGC	ITIH6	-	pfam_VIT,smart_VIT		0.502	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	C	NM_198510		54823504	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.000	T
KAT6A	7994	genome.wustl.edu	37	8	41789766	41789766	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:41789766C>T	ENST00000396930.3	-	18	6515	c.5972G>A	c.(5971-5973)gGc>gAc	p.G1991D	KAT6A_ENST00000406337.1_Missense_Mutation_p.G1991D|KAT6A_ENST00000265713.2_Missense_Mutation_p.G1991D	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1991					aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										CTTGGGCACGCCAGCAGCGTT	0.463																																																	0													124.0	107.0	113.0					8																	41789766		2203	4300	6503	SO:0001583	missense	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.5972G>A	8.37:g.41789766C>T	ENSP00000380136:p.Gly1991Asp		Q76L81	Missense_Mutation	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.G1991D	ENST00000396930.3	37	c.5972	CCDS6124.1	8	.	.	.	.	.	.	.	.	.	.	C	10.53	1.375636	0.24857	.	.	ENSG00000083168	ENST00000265713;ENST00000406337;ENST00000396930	T;T;T	0.78816	-1.21;-1.21;-1.21	5.93	5.93	0.95920	.	0.073144	0.56097	D	0.000022	T	0.82093	0.4962	L	0.34521	1.04	0.80722	D	1	D	0.76494	0.999	D	0.68353	0.957	T	0.82536	-0.0408	10	0.56958	D	0.05	-17.1619	15.7904	0.78357	0.0:0.8646:0.1354:0.0	.	1991	Q92794	KAT6A_HUMAN	D	1991	ENSP00000265713:G1991D;ENSP00000385888:G1991D;ENSP00000380136:G1991D	ENSP00000265713:G1991D	G	-	2	0	KAT6A	41908923	1.000000	0.71417	0.954000	0.39281	0.566000	0.35808	5.384000	0.66225	2.808000	0.96608	0.655000	0.94253	GGC	KAT6A	-	NULL		0.463	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	C	NM_006766		41789766	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	missense	SNP	0.998	T
KCNH6	81033	genome.wustl.edu	37	17	61611639	61611639	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:61611639C>T	ENST00000583023.1	+	5	1079	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	KCNH6_ENST00000581784.1_Silent_p.F356F|KCNH6_ENST00000314672.5_Silent_p.F356F|KCNH6_ENST00000580652.1_Silent_p.F356F|KCNH6_ENST00000456941.2_Silent_p.F356F	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	356					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	CCATCCCTTTCGACCTCCTGA	0.622																																																	0													124.0	95.0	105.0					17																	61611639		2203	4300	6503	SO:0001819	synonymous_variant	81033			AF311913	CCDS11638.1, CCDS11639.1, CCDS62290.1	17q23.3	2012-07-05				ENSG00000173826		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18862	protein-coding gene	gene with protein product		608168				16382104	Standard	NM_030779		Approved	Kv11.2, erg2, HERG2	uc002jay.3	Q9H252		ENST00000583023.1:c.1068C>T	17.37:g.61611639C>T			Q9BRD7	Silent	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom	p.F356	ENST00000583023.1	37	c.1068	CCDS11638.1	17																																																																																			KCNH6	-	pfam_Ion_trans_dom		0.622	KCNH6-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNH6	HGNC	protein_coding	OTTHUMT00000443853.1	C	NM_030779		61611639	+1	no_errors	ENST00000583023	ensembl	human	known	70_37	silent	SNP	0.502	T
KHDRBS1	10657	genome.wustl.edu	37	1	32508537	32508537	+	3'UTR	DEL	A	A	-			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:32508537delA	ENST00000327300.7	+	0	1811				KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1			KH domain containing, RNA binding, signal transduction associated 1											endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GAAGTTGAGTAAAAAAAAAAA	0.254																																					Ovarian(173;401 1982 12359 31110 42403)												0																																										SO:0001624	3_prime_UTR_variant	10657			U78971	CCDS350.1, CCDS60067.1	1p32	2008-07-18			ENSG00000121774	ENSG00000121774			18116	protein-coding gene	gene with protein product	"""GAP-associated tyrosine phosphoprotein p62 (Sam68)"""	602489				1374686, 10564820	Standard	NM_006559		Approved	Sam68, p62, FLJ34027	uc001bub.4	Q07666	OTTHUMG00000003921	ENST00000327300.7:c.*312A>-	1.37:g.32508537delA				RNA	DEL	-	NULL	ENST00000327300.7	37	NULL	CCDS350.1	1																																																																																			KHDRBS1	-	-		0.254	KHDRBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDRBS1	HGNC	protein_coding	OTTHUMT00000011199.4	A	NM_006559		32508537	+1	no_errors	ENST00000307714	ensembl	human	known	70_37	rna	DEL	0.903	-
KCNT2	343450	genome.wustl.edu	37	1	196342292	196342292	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:196342292G>T	ENST00000294725.9	-	14	2296	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	KCNT2_ENST00000367433.5_Missense_Mutation_p.L461M|KCNT2_ENST00000367431.4_Missense_Mutation_p.L461M|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.L461M|KCNT2_ENST00000451324.2_Missense_Mutation_p.L72M			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	461	RCK N-terminal.				potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTATGAACCAGTAGTGTAATA	0.289																																																	0													89.0	88.0	88.0					1																	196342292		2203	4293	6496	SO:0001583	missense	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1381C>A	1.37:g.196342292G>T	ENSP00000294725:p.Leu461Met		Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.L461M	ENST00000294725.9	37	c.1381	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	G	18.68	3.675961	0.67928	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.74	4.73	0.59995	Potassium channel, calcium-activated, BK, alpha subunit (1);	0.000000	0.49916	D	0.000138	D	0.82472	0.5044	M	0.79123	2.44	0.53005	D	0.999968	D;D;P;D	0.69078	0.997;0.989;0.764;0.997	D;D;P;D	0.78314	0.991;0.935;0.665;0.991	D	0.83929	0.0305	10	0.87932	D	0	-10.2299	11.6042	0.51022	0.1172:0.0:0.8828:0.0	.	461;461;461;461	A9LNM6;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	M	461;461;282;72;461	ENSP00000356403:L461M;ENSP00000356401:L461M;ENSP00000405474:L72M;ENSP00000294725:L461M	ENSP00000294725:L461M	L	-	1	2	KCNT2	194608915	0.997000	0.39634	1.000000	0.80357	0.997000	0.91878	2.238000	0.43070	2.728000	0.93425	0.650000	0.86243	CTG	KCNT2	-	pfam_K_chnl_Ca-activ_BK_asu		0.289	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	G	NM_198503		196342292	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	missense	SNP	0.999	T
KL	9365	genome.wustl.edu	37	13	33629357	33629357	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:33629357G>A	ENST00000380099.3	+	3	1512	c.1504G>A	c.(1504-1506)Gag>Aag	p.E502K	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Missense_Mutation_p.E195K	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	502	Glycosyl hydrolase-1 1.				acute inflammatory response (GO:0002526)|aging (GO:0007568)|calcium ion homeostasis (GO:0055074)|carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|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)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of bone mineralization (GO:0030501)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-glucosidase activity (GO:0008422)|beta-glucuronidase activity (GO:0004566)|fibroblast growth factor binding (GO:0017134)|signal transducer activity (GO:0004871)|vitamin D binding (GO:0005499)			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AAAGCTGATAGAGAAAAATGG	0.443																																																	0													142.0	131.0	135.0					13																	33629357		2203	4300	6503	SO:0001583	missense	9365			AB005142	CCDS9347.1	13q12	2008-02-05			ENSG00000133116	ENSG00000133116			6344	protein-coding gene	gene with protein product		604824				9464267	Standard	NM_004795		Approved		uc001uus.3	Q9UEF7	OTTHUMG00000017408	ENST00000380099.3:c.1504G>A	13.37:g.33629357G>A	ENSP00000369442:p.Glu502Lys		Q5VZ95|Q96KV5|Q96KW5|Q9UEI9|Q9Y4F0	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.E502K	ENST00000380099.3	37	c.1504	CCDS9347.1	13	.	.	.	.	.	.	.	.	.	.	G	12.83	2.054491	0.36277	.	.	ENSG00000133116	ENST00000426690;ENST00000380099	T;T	0.31769	1.48;1.59	6.03	6.03	0.97812	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.100408	0.64402	D	0.000002	T	0.15565	0.0375	N	0.08118	0	0.48975	D	0.999731	B;B	0.17852	0.024;0.012	B;B	0.25140	0.058;0.027	T	0.08166	-1.0735	10	0.02654	T	1	-38.5025	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	502;195	Q9UEF7;B3KUJ4	KLOT_HUMAN;.	K	195;502	ENSP00000399513:E195K;ENSP00000369442:E502K	ENSP00000369442:E502K	E	+	1	0	KL	32527357	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.306000	0.59117	2.861000	0.98227	0.655000	0.94253	GAG	KL	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.443	KL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KL	HGNC	protein_coding	OTTHUMT00000045987.1	G			33629357	+1	no_errors	ENST00000380099	ensembl	human	known	70_37	missense	SNP	1.000	A
LETM1	3954	genome.wustl.edu	37	4	1824729	1824729	+	Missense_Mutation	SNP	G	G	A	rs141023040		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:1824729G>A	ENST00000302787.2	-	9	1758	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	488					cristae formation (GO:0042407)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			ACCTCCGAGCGCTTCTGCAGC	0.682																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	52.0	49.0	50.0		1462	1.3	0.0	4	dbSNP_134	50	0,8600		0,0,4300	no	missense	LETM1	NM_012318.2	180	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	possibly-damaging	488/740	1824729	1,13005	2203	4300	6503	SO:0001583	missense	3954			AF061025	CCDS3355.1	4p16.3	2013-01-10			ENSG00000168924	ENSG00000168924		"""EF-hand domain containing"""	6556	protein-coding gene	gene with protein product	"""Mdm38 homolog (yeast)"""	604407				10486213	Standard	NM_012318		Approved		uc003gdv.3	O95202	OTTHUMG00000121149	ENST00000302787.2:c.1462C>T	4.37:g.1824729G>A	ENSP00000305653:p.Arg488Cys		B4DED2|Q9UF65	Missense_Mutation	SNP	pfam_LETM1,pfscan_EF_HAND_2	p.R488C	ENST00000302787.2	37	c.1462	CCDS3355.1	4	.	.	.	.	.	.	.	.	.	.	G	12.28	1.891622	0.33442	2.27E-4	0.0	ENSG00000168924	ENST00000302787	.	.	.	4.48	1.33	0.21861	.	1.557430	0.04116	N	0.315529	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	1	P	0.48640	0.913	B	0.32289	0.143	T	0.29912	-0.9996	9	0.56958	D	0.05	0.0361	7.4101	0.27014	0.0:0.3745:0.3886:0.2368	.	488	O95202	LETM1_HUMAN	C	488	.	ENSP00000305653:R488C	R	-	1	0	LETM1	1794527	0.021000	0.18746	0.001000	0.08648	0.130000	0.20726	0.795000	0.26972	0.423000	0.26033	0.491000	0.48974	CGC	LETM1	-	NULL		0.682	LETM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LETM1	HGNC	protein_coding	OTTHUMT00000241634.1	G			1824729	-1	no_errors	ENST00000302787	ensembl	human	known	70_37	missense	SNP	0.000	A
LGALS12	85329	genome.wustl.edu	37	11	63277954	63277954	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:63277954G>A	ENST00000394618.3	+	5	869	c.578G>A	c.(577-579)aGa>aAa	p.R193K	LGALS12_ENST00000425950.2_Missense_Mutation_p.R132K|LGALS12_ENST00000415491.2_Missense_Mutation_p.R132K|LGALS12_ENST00000255684.5_Missense_Mutation_p.R193K|LGALS12_ENST00000340246.5_Missense_Mutation_p.R194K	NM_001142535.1|NM_033101.3	NP_001136007.1|NP_149092.2	Q96DT0	LEG12_HUMAN	lectin, galactoside-binding, soluble, 12	193					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						GAGGGCAGCAGAGAGTACCCA	0.557																																																	0													116.0	94.0	101.0					11																	63277954		2201	4298	6499	SO:0001583	missense	85329			AF222695	CCDS8045.1, CCDS44633.1, CCDS44634.1, CCDS44635.1, CCDS53648.1	11q13	2011-08-04	2008-07-25		ENSG00000133317	ENSG00000133317		"""Lectins, galactoside-binding"""	15788	protein-coding gene	gene with protein product	"""galectin 12"""	606096				11283015, 11435439	Standard	NM_033101		Approved	GRIP1	uc001nxc.2	Q96DT0	OTTHUMG00000167807	ENST00000394618.3:c.578G>A	11.37:g.63277954G>A	ENSP00000378116:p.Arg193Lys		B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD	p.R194K	ENST00000394618.3	37	c.581	CCDS8045.1	11	.	.	.	.	.	.	.	.	.	.	G	2.016	-0.425972	0.04701	.	.	ENSG00000133317	ENST00000255684;ENST00000394618;ENST00000340246;ENST00000415491;ENST00000425950	T;T;T;T;T	0.07444	3.49;3.63;3.64;3.39;3.19	5.5	-5.04	0.02964	.	0.991339	0.08207	N	0.981292	T	0.02418	0.0074	N	0.05383	-0.06	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.001;0.0	T	0.44390	-0.9331	10	0.05351	T	0.99	-2.1934	1.7526	0.02975	0.4331:0.185:0.2603:0.1216	.	153;194;193;193	Q9NZ03;G5E970;Q96DT0-3;Q96DT0	.;.;.;LEG12_HUMAN	K	193;193;194;132;132	ENSP00000255684:R193K;ENSP00000378116:R193K;ENSP00000339374:R194K;ENSP00000394659:R132K;ENSP00000399093:R132K	ENSP00000255684:R193K	R	+	2	0	LGALS12	63034530	0.041000	0.20044	0.051000	0.19133	0.752000	0.42762	-0.208000	0.09371	-0.527000	0.06374	0.511000	0.50034	AGA	LGALS12	-	NULL		0.557	LGALS12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LGALS12	HGNC	protein_coding	OTTHUMT00000396378.1	G	NM_033101		63277954	+1	no_errors	ENST00000340246	ensembl	human	known	70_37	missense	SNP	0.005	A
LIN9	286826	genome.wustl.edu	37	1	226438593	226438593	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:226438593T>A	ENST00000328205.5	-	11	1659	c.1114A>T	c.(1114-1116)Aaa>Taa	p.K372*	LIN9_ENST00000481685.1_Nonsense_Mutation_p.K337*|LIN9_ENST00000366801.1_Nonsense_Mutation_p.K321*	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	356					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGTTCCTTTTTAATCATGAGA	0.264																																					Ovarian(197;1696 2974 11248 14117)												0													68.0	70.0	70.0					1																	226438593		2188	4291	6479	SO:0001587	stop_gained	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1114A>T	1.37:g.226438593T>A	ENSP00000329102:p.Lys372*		Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Nonsense_Mutation	SNP	pfam_DIRP	p.K372*	ENST00000328205.5	37	c.1114	CCDS1553.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	36|36	5.973342|5.973342	0.97162|0.97162	.|.	.|.	ENSG00000183814|ENSG00000183814	ENST00000366807|ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.|.	.|.	.|.	5.69|5.69	5.69|5.69	0.88448|0.88448	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.02654	.|T	.|1	.|.	15.6045|15.6045	0.76652|0.76652	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|.	.|.	.|.	.|X	-1|332;372;427;321;337	.|.	.|ENSP00000329102:K372X	.|K	-|-	.|1	.|0	LIN9|LIN9	224505216|224505216	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	6.642000|6.642000	0.74329|0.74329	2.171000|2.171000	0.68590|0.68590	0.528000|0.528000	0.53228|0.53228	.|AAA	LIN9	-	NULL		0.264	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	T	NM_173083		226438593	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LINC01410	103352539	genome.wustl.edu	37	9	66466650	66466650	+	lincRNA	SNP	G	G	C	rs1133399	byFrequency	TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:66466650G>C	ENST00000424345.1	+	0	1283																											gctaataaaggactccttaat	0.478																																																	0																																												100996870																															9.37:g.66466650G>C				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.478	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	G			66466650	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.105	C
LRPPRC	10128	genome.wustl.edu	37	2	44161914	44161914	+	Missense_Mutation	SNP	C	C	T	rs372127413		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:44161914C>T	ENST00000260665.7	-	24	2665	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	870					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGATCAGTCTCGCCTTTCTCT	0.358																																																	0													123.0	118.0	120.0					2																	44161914		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.2608G>A	2.37:g.44161914C>T	ENSP00000260665:p.Glu870Lys		A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E870K	ENST00000260665.7	37	c.2608	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	C	15.98	2.992939	0.54041	.	.	ENSG00000138095	ENST00000465633;ENST00000260665	T	0.56941	0.43	5.93	5.03	0.67393	.	0.054722	0.64402	D	0.000001	T	0.37999	0.1024	L	0.36672	1.1	0.80722	D	1	B;B	0.25312	0.021;0.123	B;B	0.15484	0.011;0.013	T	0.16660	-1.0395	10	0.11182	T	0.66	-7.0443	11.2064	0.48771	0.0:0.8461:0.0:0.1539	.	770;870	F5H4J6;P42704	.;LPPRC_HUMAN	K	770;870	ENSP00000260665:E870K	ENSP00000260665:E870K	E	-	1	0	LRPPRC	44015418	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	1.767000	0.38501	1.452000	0.47756	0.591000	0.81541	GAG	LRPPRC	-	NULL		0.358	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	C	NM_133259		44161914	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	1.000	T
MACC1	346389	genome.wustl.edu	37	7	20198840	20198840	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr7:20198840G>A	ENST00000400331.5	-	5	1452	c.1144C>T	c.(1144-1146)Ccc>Tcc	p.P382S	MACC1_ENST00000589011.1_Missense_Mutation_p.P382S|MACC1_ENST00000332878.4_Missense_Mutation_p.P382S	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	382					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GTAAAACTGGGATGGATATAT	0.393																																																	0													52.0	49.0	50.0					7																	20198840		2203	4300	6503	SO:0001583	missense	346389				CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1144C>T	7.37:g.20198840G>A	ENSP00000383185:p.Pro382Ser		A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	pfam_SH3_2,superfamily_DEATH-like	p.P382S	ENST00000400331.5	37	c.1144	CCDS5369.1	7	.	.	.	.	.	.	.	.	.	.	G	16.53	3.148522	0.57151	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.12569	2.67;2.67	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.42539	0.1207	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.23154	-1.0196	10	0.62326	D	0.03	-10.1509	19.8711	0.96851	0.0:0.0:1.0:0.0	.	382	Q6ZN28	MACC1_HUMAN	S	382	ENSP00000383185:P382S;ENSP00000328410:P382S	ENSP00000328410:P382S	P	-	1	0	MACC1	20165365	1.000000	0.71417	0.998000	0.56505	0.411000	0.31082	9.869000	0.99810	2.689000	0.91719	0.591000	0.81541	CCC	MACC1	-	NULL		0.393	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MACC1	HGNC	protein_coding	OTTHUMT00000250202.5	G	NM_182762		20198840	-1	no_errors	ENST00000332878	ensembl	human	known	70_37	missense	SNP	1.000	A
MADD	8567	genome.wustl.edu	37	11	47331143	47331143	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:47331143T>A	ENST00000311027.5	+	28	4303	c.4138T>A	c.(4138-4140)Tcc>Acc	p.S1380T	MADD_ENST00000395344.3_Missense_Mutation_p.S1274T|MADD_ENST00000402799.1_Missense_Mutation_p.S1278T|MADD_ENST00000406482.1_Missense_Mutation_p.S1278T|MADD_ENST00000342922.4_Missense_Mutation_p.S1321T|MADD_ENST00000405573.2_Missense_Mutation_p.S190T|MADD_ENST00000349238.3_Missense_Mutation_p.S1341T|MADD_ENST00000402192.2_Missense_Mutation_p.S1320T|MADD_ENST00000407859.3_Missense_Mutation_p.S1298T|MADD_ENST00000395336.3_Missense_Mutation_p.S1380T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CAACCTCATCTCCTACATGCT	0.512																																																	0													152.0	133.0	139.0					11																	47331143		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4138T>A	11.37:g.47331143T>A	ENSP00000310933:p.Ser1380Thr			Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.S1380T	ENST00000311027.5	37	c.4138	CCDS7930.1	11	.	.	.	.	.	.	.	.	.	.	T	17.93	3.509620	0.64522	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.47177	3.47;3.34;3.35;3.47;3.46;3.34;3.34;3.47;3.47;0.85	5.05	5.05	0.67936	.	0.056267	0.64402	D	0.000001	T	0.34019	0.0883	N	0.14661	0.345	0.43936	D	0.996598	P;B;B;B;B;B;B;B;B;B;B	0.39601	0.68;0.224;0.267;0.391;0.386;0.332;0.332;0.256;0.386;0.271;0.256	B;B;B;B;B;B;B;B;B;B;B	0.41412	0.356;0.08;0.08;0.287;0.167;0.167;0.108;0.234;0.234;0.15;0.234	T	0.32981	-0.9886	10	0.87932	D	0	-15.8773	10.6126	0.45432	0.0:0.0:0.3035:0.6965	.	190;1274;1274;1380;1278;1278;1278;1341;1298;1380;1321	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	T	1321;1278;1278;1278;1341;1380;1298;1274;1380;1320;190	ENSP00000343902:S1321T;ENSP00000385585:S1278T;ENSP00000384435:S1278T;ENSP00000304505:S1341T;ENSP00000310933:S1380T;ENSP00000384204:S1298T;ENSP00000378753:S1274T;ENSP00000378745:S1380T;ENSP00000384287:S1320T;ENSP00000384483:S190T	ENSP00000310933:S1380T	S	+	1	0	MADD	47287719	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.531000	0.67148	1.886000	0.54624	0.460000	0.39030	TCC	MADD	-	NULL		0.512	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	T			47331143	+1	no_errors	ENST00000311027	ensembl	human	known	70_37	missense	SNP	1.000	A
MAGEF1	64110	genome.wustl.edu	37	3	184429564	184429564	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:184429564C>T	ENST00000317897.3	-	1	272	c.46G>A	c.(46-48)Gag>Aag	p.E16K		NM_022149.4	NP_071432.2	Q9HAY2	MAGF1_HUMAN	melanoma antigen family F, 1	16						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(143;4.61e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;5.64e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.56e-22)			TTCTCCCCCTCGGCCTGCGGG	0.721																																																	0													8.0	10.0	9.0					3																	184429564		2067	4044	6111	SO:0001583	missense	64110			AF295378	CCDS3269.1	3q13	2008-02-05			ENSG00000177383	ENSG00000177383			29639	protein-coding gene	gene with protein product		609267				11313144	Standard	NM_022149		Approved		uc003fpa.3	Q9HAY2	OTTHUMG00000156712	ENST00000317897.3:c.46G>A	3.37:g.184429564C>T	ENSP00000315064:p.Glu16Lys		Q9H215	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E16K	ENST00000317897.3	37	c.46	CCDS3269.1	3	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620355	0.66787	.	.	ENSG00000177383	ENST00000317897	T	0.05996	3.36	3.6	1.64	0.23874	.	4.302770	0.00481	N	0.000139	T	0.05227	0.0139	L	0.29908	0.895	0.09310	N	1	B	0.16802	0.019	B	0.08055	0.003	T	0.39035	-0.9633	10	0.08599	T	0.76	.	4.5364	0.12037	0.0:0.6411:0.2206:0.1382	.	16	Q9HAY2	MAGF1_HUMAN	K	16	ENSP00000315064:E16K	ENSP00000315064:E16K	E	-	1	0	MAGEF1	185912258	0.001000	0.12720	0.029000	0.17559	0.680000	0.39746	0.700000	0.25601	0.435000	0.26365	-0.345000	0.07892	GAG	MAGEF1	-	NULL		0.721	MAGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEF1	HGNC	protein_coding	OTTHUMT00000345417.1	C	NM_022149		184429564	-1	no_errors	ENST00000317897	ensembl	human	known	70_37	missense	SNP	0.032	T
MALAT1	378938	genome.wustl.edu	37	11	65266481	65266481	+	lincRNA	SNP	C	C	T	rs376520805	byFrequency	TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:65266481C>T	ENST00000534336.1	+	0	1249				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GAGTTGTTCTCCGTCTATAAA	0.537													C|||	3	0.000599042	0.0008	0.0	5008	,	,		15343	0.001		0.001	False		,,,				2504	0.0																0													140.0	140.0	140.0					11																	65266481		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65266481C>T				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.537	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	C	NR_002819		65266481	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	SNP	0.000	T
MALAT1	378938	genome.wustl.edu	37	11	65268480	65268480	+	lincRNA	DEL	T	T	-	rs72004824|rs117197658	byFrequency	TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:65268480delT	ENST00000534336.1	+	0	3248				AP000769.7_ENST00000602344.1_lincRNA	NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGTTTGTGGGTTTTTTTTTTT	0.368																																																	0													83.0	101.0	95.0					11																	65268480		874	1988	2862			378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65268480delT				RNA	DEL	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.368	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	T	NR_002819		65268480	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	DEL	0.000	-
MAN2A1	4124	genome.wustl.edu	37	5	109117292	109117292	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:109117292C>T	ENST00000261483.4	+	9	2622	c.1570C>T	c.(1570-1572)Cat>Tat	p.H524Y		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	524					cellular protein metabolic process (GO:0044267)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|mannose metabolic process (GO:0006013)|mitochondrion organization (GO:0007005)|N-glycan processing (GO:0006491)|positive regulation of neurogenesis (GO:0050769)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|respiratory gaseous exchange (GO:0007585)|retina morphogenesis in camera-type eye (GO:0060042)|vacuole organization (GO:0007033)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|hydrolase activity, hydrolyzing N-glycosyl compounds (GO:0016799)|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity (GO:0004572)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		CATGGAATCTCATTTAAGGTA	0.313																																																	0													79.0	79.0	79.0					5																	109117292		2202	4300	6502	SO:0001583	missense	4124				CCDS34209.1	5q21.3	2013-09-20			ENSG00000112893	ENSG00000112893	3.2.1.114		6824	protein-coding gene	gene with protein product	"""golgi integral membrane protein 7"""	154582		MANA2		1757461, 15004235	Standard	NM_002372		Approved	GOLIM7	uc003kou.1	Q16706	OTTHUMG00000162834	ENST00000261483.4:c.1570C>T	5.37:g.109117292C>T	ENSP00000261483:p.His524Tyr		Q16767	Missense_Mutation	SNP	pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom	p.H524Y	ENST00000261483.4	37	c.1570	CCDS34209.1	5	.	.	.	.	.	.	.	.	.	.	C	8.343	0.829046	0.16749	.	.	ENSG00000112893	ENST00000261483	T	0.73469	-0.75	6.06	4.08	0.47627	Glycoside hydrolase, family 38, central domain (2);	0.750787	0.13511	N	0.382521	T	0.51244	0.1663	N	0.10685	0.025	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.30416	-0.9979	10	0.12766	T	0.61	-8.5235	9.5459	0.39279	0.0:0.7332:0.0:0.2668	.	524	Q16706	MA2A1_HUMAN	Y	524	ENSP00000261483:H524Y	ENSP00000261483:H524Y	H	+	1	0	MAN2A1	109145191	0.796000	0.28864	0.024000	0.17045	0.687000	0.40016	1.629000	0.37071	1.584000	0.49913	0.650000	0.86243	CAT	MAN2A1	-	pfam_Glyco_hydro_38_cen_dom,smart_Glyco_hydro_38_cen_dom		0.313	MAN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN2A1	HGNC	protein_coding	OTTHUMT00000370680.1	C			109117292	+1	no_errors	ENST00000261483	ensembl	human	known	70_37	missense	SNP	0.067	T
MAPK1	5594	genome.wustl.edu	37	22	22160227	22160227	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr22:22160227C>T	ENST00000215832.6	-	3	592	c.404G>A	c.(403-405)aGa>aAa	p.R135K	MAPK1_ENST00000398822.3_Missense_Mutation_p.R135K|MAPK1_ENST00000544786.1_Missense_Mutation_p.R135K	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	135	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|caveolin-mediated endocytosis (GO:0072584)|cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to granulocyte macrophage colony-stimulating factor stimulus (GO:0097011)|chemotaxis (GO:0006935)|cytosine metabolic process (GO:0019858)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|labyrinthine layer blood vessel development (GO:0060716)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mammary gland epithelial cell proliferation (GO:0033598)|MAPK cascade (GO:0000165)|MAPK import into nucleus (GO:0000189)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell differentiation (GO:0045596)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|Ras protein signal transduction (GO:0007265)|regulation of cytoskeleton organization (GO:0051493)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of protein stability (GO:0031647)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of stress-activated MAPK cascade (GO:0032872)|response to epidermal growth factor (GO:0070849)|response to estrogen (GO:0043627)|response to exogenous dsRNA (GO:0043330)|response to stress (GO:0006950)|response to toxic substance (GO:0009636)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|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, DNA-templated (GO:0006351)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|microtubule cytoskeleton (GO:0015630)|mitochondrion (GO:0005739)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|protein complex (GO:0043234)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MAP kinase activity (GO:0004707)|phosphatase binding (GO:0019902)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)|Isoprenaline(DB01064)	TTTTAACCCTCTGAGGATCTG	0.448																																																	0													203.0	187.0	193.0					22																	22160227		2203	4300	6503	SO:0001583	missense	5594			M84489	CCDS13795.1	22q11.2	2014-09-17			ENSG00000100030	ENSG00000100030	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6871	protein-coding gene	gene with protein product		176948		PRKM2, PRKM1			Standard	NM_138957		Approved	ERK, ERK2, p41mapk, MAPK2	uc002zvn.3	P28482	OTTHUMG00000030508	ENST00000215832.6:c.404G>A	22.37:g.22160227C>T	ENSP00000215832:p.Arg135Lys		A8CZ64	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,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4	p.R135K	ENST00000215832.6	37	c.404	CCDS13795.1	22	.	.	.	.	.	.	.	.	.	.	C	36	5.599358	0.96614	.	.	ENSG00000100030	ENST00000215832;ENST00000415911;ENST00000398822;ENST00000544786	T;T;T	0.64991	-0.13;-0.13;-0.13	4.77	4.77	0.60923	Serine/threonine-protein kinase-like domain (1);MAP kinase, conserved site (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.67496	0.2899	N	0.16602	0.42	0.80722	D	1	D;D	0.76494	0.993;0.999	D;D	0.80764	0.95;0.994	T	0.73594	-0.3933	10	0.87932	D	0	-2.875	18.343	0.90312	0.0:1.0:0.0:0.0	.	135;135	A8CZ64;P28482	.;MK01_HUMAN	K	135;123;135;135	ENSP00000215832:R135K;ENSP00000381803:R135K;ENSP00000440842:R135K	ENSP00000215832:R135K	R	-	2	0	MAPK1	20490227	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.563000	0.82314	2.637000	0.89404	0.650000	0.86243	AGA	MAPK1	-	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		0.448	MAPK1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MAPK1	HGNC	protein_coding	OTTHUMT00000075396.2	C			22160227	-1	no_errors	ENST00000215832	ensembl	human	known	70_37	missense	SNP	1.000	T
MAST4	375449	genome.wustl.edu	37	5	66459794	66459794	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:66459794C>T	ENST00000403625.2	+	29	5082	c.4787C>T	c.(4786-4788)gCg>gTg	p.A1596V	MAST4_ENST00000403666.1_Missense_Mutation_p.A1407V|MAST4_ENST00000261569.7_Missense_Mutation_p.A1402V|MAST4_ENST00000404260.3_Missense_Mutation_p.A1599V|MAST4_ENST00000405643.1_Missense_Mutation_p.A1417V	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1599						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATGCAGGAGGCGCCACCGCTG	0.567																																																	0													20.0	22.0	21.0					5																	66459794		1987	4149	6136	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.4787C>T	5.37:g.66459794C>T	ENSP00000385727:p.Ala1596Val		A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.A1599V	ENST00000403625.2	37	c.4796	CCDS54861.1	5	.	.	.	.	.	.	.	.	.	.	C	13.01	2.110075	0.37242	.	.	ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569	T;T;T;T;T	0.65178	-0.11;-0.11;-0.14;-0.13;-0.11	4.95	2.09	0.27110	.	1.277870	0.05259	N	0.515431	T	0.52075	0.1712	L	0.40543	1.245	0.09310	N	1	B;B	0.24426	0.103;0.052	B;B	0.18263	0.009;0.021	T	0.31668	-0.9935	10	0.28530	T	0.3	0.2689	7.4204	0.27069	0.0:0.4573:0.3934:0.1493	.	1599;1407	O15021;O15021-3	MAST4_HUMAN;.	V	1599;1596;1407;1417;1417;1402	ENSP00000385048:A1599V;ENSP00000385727:A1596V;ENSP00000384313:A1407V;ENSP00000384099:A1417V;ENSP00000261569:A1402V	ENSP00000261569:A1402V	A	+	2	0	MAST4	66495550	0.007000	0.16637	0.000000	0.03702	0.009000	0.06853	1.182000	0.32029	0.231000	0.21079	-0.305000	0.09177	GCG	MAST4	-	NULL		0.567	MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	MAST4	HGNC	protein_coding	OTTHUMT00000326324.2	C			66459794	+1	no_errors	ENST00000404260	ensembl	human	known	70_37	missense	SNP	0.001	T
MED1	5469	genome.wustl.edu	37	17	37571589	37571589	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:37571589G>A	ENST00000394287.3	-	15	1506	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	MED1_ENST00000300651.6_Missense_Mutation_p.S434F			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)			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)		AAGCCCAGGAGAATCTAAAAG	0.478										HNSCC(31;0.082)																											Pancreas(21;279 768 2492 4877 24026)												0													44.0	39.0	41.0					17																	37571589		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.1301C>T	17.37:g.37571589G>A	ENSP00000377828:p.Ser434Phe		B4DZN2|D3DNC3|D3DNC4|E9PEE4|Q2MD36|Q7Z4T3|Q96F09	Missense_Mutation	SNP	pfam_Mediator_Med1_met/fun	p.S434F	ENST00000394287.3	37	c.1301		17	.	.	.	.	.	.	.	.	.	.	G	13.54	2.266939	0.40095	.	.	ENSG00000125686	ENST00000394287;ENST00000300651	T	0.33865	1.39	5.7	3.66	0.41972	.	.	.	.	.	T	0.19846	0.0477	N	0.12182	0.205	0.39632	D	0.970198	P;B	0.44195	0.828;0.178	B;B	0.38880	0.284;0.074	T	0.02743	-1.1116	9	0.09590	T	0.72	-1.6198	15.9081	0.79447	0.0:0.3836:0.6164:0.0	.	434;434	Q15648;Q15648-3	MED1_HUMAN;.	F	434	ENSP00000300651:S434F	ENSP00000300651:S434F	S	-	2	0	MED1	34825115	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.730000	0.55006	0.739000	0.32628	0.644000	0.83932	TCT	MED1	-	NULL		0.478	MED1-002	PUTATIVE	basic|exp_conf	protein_coding	MED1	HGNC	protein_coding	OTTHUMT00000256944.1	G	NM_004774		37571589	-1	no_errors	ENST00000300651	ensembl	human	known	70_37	missense	SNP	1.000	A
MLPH	79083	genome.wustl.edu	37	2	238427252	238427252	+	Silent	SNP	C	C	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:238427252C>A	ENST00000264605.3	+	5	810	c.516C>A	c.(514-516)ggC>ggA	p.G172G	MLPH_ENST00000410032.1_Silent_p.G172G|MLPH_ENST00000409373.1_Silent_p.G172G|MLPH_ENST00000338530.4_Silent_p.G172G|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Silent_p.G172G	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	172			G -> D (in dbSNP:rs3751107).		melanocyte differentiation (GO:0030318)|melanosome localization (GO:0032400)|protein targeting (GO:0006605)	cortical actin cytoskeleton (GO:0030864)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|microtubule plus-end (GO:0035371)|stress fiber (GO:0001725)	metal ion binding (GO:0046872)			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GAGAACCTGGCTCAGAGGCCC	0.582																																																	0													66.0	72.0	70.0					2																	238427252		2203	4300	6503	SO:0001819	synonymous_variant	79083			AY358857	CCDS2518.1, CCDS42836.1, CCDS63172.1, CCDS63173.1	2q37.2	2014-09-17			ENSG00000115648	ENSG00000115648			29643	protein-coding gene	gene with protein product		606526				11980908, 11504925	Standard	NM_024101		Approved	l1Rk3, l(1)-3Rk, Slac-2a, ln, exophilin-3	uc002vwt.3	Q9BV36	OTTHUMG00000133298	ENST00000264605.3:c.516C>A	2.37:g.238427252C>A			B3KSS2|B4DKW7|G5E9G5|Q9HA71	Silent	SNP	pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain	p.G172	ENST00000264605.3	37	c.516	CCDS2518.1	2																																																																																			MLPH	-	NULL		0.582	MLPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLPH	HGNC	protein_coding	OTTHUMT00000257083.2	C	NM_024101		238427252	+1	no_errors	ENST00000264605	ensembl	human	known	70_37	silent	SNP	0.001	A
MYEOV2	150678	genome.wustl.edu	37	2	241066089	241066089	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:241066089G>C	ENST00000307266.3	-	5	649	c.650C>G	c.(649-651)tCa>tGa	p.S217*		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		AGTAGAAACTGATATTGTGCT	0.468																																																	0													222.0	176.0	192.0					2																	241066089		2203	4300	6503	SO:0001587	stop_gained	150678			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.650C>G	2.37:g.241066089G>C	ENSP00000304147:p.Ser217*		Q8N110	Nonsense_Mutation	SNP	NULL	p.S217*	ENST00000307266.3	37	c.650	CCDS2532.1	2	.	.	.	.	.	.	.	.	.	.	G	7.087	0.571461	0.13623	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.13	1.13	0.20643	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	5.6353	0.17534	0.0:0.0:1.0:0.0	.	.	.	.	X	217	.	ENSP00000304147:S217X	S	-	2	0	MYEOV2	240714762	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	0.064000	0.14437	0.925000	0.37094	0.543000	0.68304	TCA	MYEOV2	-	NULL		0.468	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	MYEOV2	HGNC	protein_coding	OTTHUMT00000257182.2	G	NM_138336		241066089	-1	no_errors	ENST00000307266	ensembl	human	known	70_37	nonsense	SNP	0.001	C
MYEOV2	150678	genome.wustl.edu	37	2	241066249	241066249	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:241066249G>A	ENST00000307266.3	-	5	489	c.490C>T	c.(490-492)Ccg>Tcg	p.P164S		NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		CCACACAGCGGATGTTCTCTG	0.532																																																	0													236.0	243.0	241.0					2																	241066249		2203	4300	6503	SO:0001583	missense	150678			AF453951	CCDS2532.1, CCDS63183.1	2q37.3	2008-02-05			ENSG00000172428	ENSG00000172428			21314	protein-coding gene	gene with protein product							Standard	NM_138336		Approved		uc002vyu.1	Q8WXC6	OTTHUMG00000133352	ENST00000307266.3:c.490C>T	2.37:g.241066249G>A	ENSP00000304147:p.Pro164Ser		Q8N110	Missense_Mutation	SNP	NULL	p.P164S	ENST00000307266.3	37	c.490	CCDS2532.1	2	.	.	.	.	.	.	.	.	.	.	G	3.463	-0.109502	0.06924	.	.	ENSG00000172428	ENST00000307266	.	.	.	1.67	-1.12	0.09808	.	.	.	.	.	T	0.26304	0.0642	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.27971	-1.0058	7	0.87932	D	0	.	2.3544	0.04292	0.4942:0.3049:0.2009:0.0	.	164	Q8WXC6-1	.	S	164	.	ENSP00000304147:P164S	P	-	1	0	MYEOV2	240714922	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.649000	0.05384	-0.268000	0.09312	-0.483000	0.04790	CCG	MYEOV2	-	NULL		0.532	MYEOV2-001	KNOWN	basic|CCDS	protein_coding	MYEOV2	HGNC	protein_coding	OTTHUMT00000257182.2	G	NM_138336		241066249	-1	no_errors	ENST00000307266	ensembl	human	known	70_37	missense	SNP	0.000	A
NDUFB11	54539	genome.wustl.edu	37	X	47001822	47001822	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:47001822C>T	ENST00000377811.3	-	3	1180	c.356G>A	c.(355-357)cGc>cAc	p.R119H	NDUFB11_ENST00000276062.8_Missense_Mutation_p.R129H|RBM10_ENST00000329236.7_5'Flank|RBM10_ENST00000345781.6_5'Flank|RBM10_ENST00000377604.3_5'Flank	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	119					cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGCTTCGCGGCGGGACCACTC	0.547																																					Ovarian(77;454 1296 7908 21551 37072)												0													87.0	67.0	74.0					X																	47001822		2203	4300	6503	SO:0001583	missense	54539			AF044213	CCDS14273.1, CCDS48100.1	Xp11.3	2011-07-04			ENSG00000147123	ENSG00000147123		"""Mitochondrial respiratory chain complex / Complex I"""	20372	protein-coding gene	gene with protein product	"""complex I NP17.3 subunit"""	300403				10544803, 12381726	Standard	NM_019056		Approved	ESSS, NP17.3, Np15	uc004dhc.3	Q9NX14	OTTHUMG00000021433	ENST00000377811.3:c.356G>A	X.37:g.47001822C>T	ENSP00000367042:p.Arg119His		Q5JRR3|Q5JRR4|Q6IAB6|Q8WZ96|Q9BXX9	Missense_Mutation	SNP	pfam_NADH_UbQ_OxRdtase_ESSS_su	p.R129H	ENST00000377811.3	37	c.386	CCDS48100.1	X	.	.	.	.	.	.	.	.	.	.	c	14.36	2.513185	0.44660	.	.	ENSG00000147123	ENST00000377811;ENST00000447793;ENST00000276062	.	.	.	4.07	4.07	0.47477	.	0.126528	0.51477	D	0.000099	T	0.50905	0.1643	M	0.67953	2.075	0.42842	D	0.994053	P;P	0.35821	0.518;0.523	B;B	0.29524	0.076;0.103	T	0.59658	-0.7413	9	0.59425	D	0.04	-3.1044	10.6963	0.45901	0.0:1.0:0.0:0.0	.	119;129	Q9NX14;Q9NX14-2	NDUBB_HUMAN;.	H	119;123;129	.	ENSP00000276062:R129H	R	-	2	0	NDUFB11	46886766	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	5.140000	0.64807	2.286000	0.76751	0.523000	0.50628	CGC	NDUFB11	-	pfam_NADH_UbQ_OxRdtase_ESSS_su		0.547	NDUFB11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFB11	HGNC	protein_coding	OTTHUMT00000056382.1	C	NM_019056		47001822	-1	no_errors	ENST00000276062	ensembl	human	known	70_37	missense	SNP	1.000	T
NEIL3	55247	genome.wustl.edu	37	4	178274720	178274720	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:178274720C>T	ENST00000264596.3	+	8	1416	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	433					base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|nucleotide-excision repair (GO:0006289)	nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA binding (GO:0003690)|single-stranded DNA binding (GO:0003697)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAGCACCCCTCCAAGAAGACA	0.353								Base excision repair (BER), DNA glycosylases																																									0													83.0	81.0	81.0					4																	178274720		2203	4300	6503	SO:0001583	missense	55247			AB079071	CCDS3828.1	4q34	2014-02-18			ENSG00000109674	ENSG00000109674			24573	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 3"""	608934				12713815, 12509226	Standard	NM_018248		Approved	FLJ10858, hFPG2, FPG2, hNEI3, ZGRF3	uc003iut.2	Q8TAT5	OTTHUMG00000160722	ENST00000264596.3:c.1298C>T	4.37:g.178274720C>T	ENSP00000264596:p.Ser433Phe		Q2PPJ3|Q8NG51|Q9NV95	Missense_Mutation	SNP	pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat	p.S433F	ENST00000264596.3	37	c.1298	CCDS3828.1	4	.	.	.	.	.	.	.	.	.	.	C	13.97	2.394690	0.42512	.	.	ENSG00000109674	ENST00000264596	T	0.04654	3.58	5.09	4.25	0.50352	.	0.344395	0.32328	N	0.006254	T	0.12092	0.0294	M	0.66939	2.045	0.35325	D	0.785095	D	0.60160	0.987	P	0.53809	0.735	T	0.10405	-1.0631	10	0.72032	D	0.01	-7.1803	9.6428	0.39850	0.0:0.832:0.0:0.168	.	433	Q8TAT5	NEIL3_HUMAN	F	433	ENSP00000264596:S433F	ENSP00000264596:S433F	S	+	2	0	NEIL3	178511714	0.819000	0.29175	0.150000	0.22450	0.329000	0.28539	1.239000	0.32719	1.387000	0.46486	0.557000	0.71058	TCC	NEIL3	-	NULL		0.353	NEIL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL3	HGNC	protein_coding	OTTHUMT00000361914.1	C	NM_018248		178274720	+1	no_errors	ENST00000264596	ensembl	human	known	70_37	missense	SNP	0.899	T
NXF5	55998	genome.wustl.edu	37	X	101095805	101095805	+	Silent	SNP	T	T	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:101095805T>C	ENST00000361708.2	-	9	902	c.543A>G	c.(541-543)acA>acG	p.T181T	NXF5_ENST00000473265.2_Silent_p.T181T|NXF5_ENST00000537026.1_Silent_p.T181T			Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	181					mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						GAGCCTTCTCTGTAATGTCAG	0.473																																																	0													63.0	55.0	58.0					X																	101095805		2202	4297	6499	SO:0001819	synonymous_variant	55998			AJ277654	CCDS14491.1, CCDS14491.2	Xq22	2008-07-28			ENSG00000126952	ENSG00000126952			8075	protein-coding gene	gene with protein product		300319				11566096	Standard	NM_032946		Approved		uc011mrk.1	Q9H1B4	OTTHUMG00000022042	ENST00000361708.2:c.543A>G	X.37:g.101095805T>C			A2RRM0|B1AV82|B1AV83|B1AV84|B1AV85|Q9H1B0|Q9H1B1|Q9H1B2|Q9H1B3	Splice_Site	SNP	-	e7-2	ENST00000361708.2	37	c.481-2		X																																																																																			NXF5	-	-		0.473	NXF5-201	KNOWN	basic	protein_coding	NXF5	HGNC	protein_coding		T			101095805	-1	no_errors	ENST00000493509	ensembl	human	known	70_37	splice_site	SNP	0.522	C
NSDHL	50814	genome.wustl.edu	37	X	152034375	152034375	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:152034375G>A	ENST00000370274.3	+	6	750	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	186					cholesterol biosynthetic process (GO:0006695)|hair follicle development (GO:0001942)|labyrinthine layer blood vessel development (GO:0060716)|small molecule metabolic process (GO:0044281)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lipid particle (GO:0005811)	3-beta-hydroxy-delta5-steroid dehydrogenase activity (GO:0003854)|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity (GO:0047012)			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCTGGGCGCCAACGATCC	0.582																																																	0													102.0	94.0	96.0					X																	152034375		2203	4300	6503	SO:0001583	missense	50814			X96621	CCDS14717.1	Xq28	2011-09-14			ENSG00000147383	ENSG00000147383	1.1.1.170	"""Short chain dehydrogenase/reductase superfamily / Extended SDR fold"""	13398	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 31E, member 1"""	300275				10710235, 12837764, 19027726	Standard	NM_015922		Approved	XAP104, H105e3, SDR31E1	uc004fgs.1	Q15738	OTTHUMG00000024185	ENST00000370274.3:c.556G>A	X.37:g.152034375G>A	ENSP00000359297:p.Ala186Thr		D3DWT6|O00344	Missense_Mutation	SNP	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_Polysac_CapD-like,pfam_NmrA	p.A186T	ENST00000370274.3	37	c.556	CCDS14717.1	X	.	.	.	.	.	.	.	.	.	.	G	16.13	3.034511	0.54896	.	.	ENSG00000147383	ENST00000370274;ENST00000440023;ENST00000432467	D;D;D	0.89196	-2.48;-2.48;-2.48	5.78	3.98	0.46160	3-beta hydroxysteroid dehydrogenase/isomerase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.94755	0.8307	M	0.91972	3.26	0.58432	D	0.999997	D	0.89917	1.0	D	0.78314	0.991	D	0.93785	0.7087	10	0.59425	D	0.04	0.0387	10.0707	0.42330	0.0:0.1457:0.6996:0.1547	.	186	Q15738	NSDHL_HUMAN	T	186	ENSP00000359297:A186T;ENSP00000391854:A186T;ENSP00000396266:A186T	ENSP00000359297:A186T	A	+	1	0	NSDHL	151785031	1.000000	0.71417	0.060000	0.19600	0.126000	0.20510	7.817000	0.86213	0.571000	0.29365	0.529000	0.55759	GCC	NSDHL	-	pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd		0.582	NSDHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSDHL	HGNC	protein_coding	OTTHUMT00000060927.1	G	NM_015922		152034375	+1	no_errors	ENST00000370274	ensembl	human	known	70_37	missense	SNP	0.983	A
OR8J3	81168	genome.wustl.edu	37	11	55904545	55904545	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:55904545G>A	ENST00000301529.1	-	1	649	c.650C>T	c.(649-651)tCt>tTt	p.S217F		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	217						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ATTGAAATAAGATACTAGAAC	0.363																																																	0													90.0	92.0	91.0					11																	55904545		2201	4296	6497	SO:0001583	missense	81168				CCDS31520.1	11q12.2	2012-08-09			ENSG00000167822	ENSG00000167822		"""GPCR / Class A : Olfactory receptors"""	15312	protein-coding gene	gene with protein product							Standard	NM_001004064		Approved		uc010riz.2	Q8NGG0	OTTHUMG00000166834	ENST00000301529.1:c.650C>T	11.37:g.55904545G>A	ENSP00000301529:p.Ser217Phe		Q6IFB6|Q96RC2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S217F	ENST00000301529.1	37	c.650	CCDS31520.1	11	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578915	0.46006	.	.	ENSG00000167822	ENST00000301529	T	0.42513	0.97	3.27	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000006	T	0.68430	0.3000	H	0.95079	3.62	0.21782	N	0.999542	P	0.38455	0.632	P	0.51016	0.656	T	0.67035	-0.5772	10	0.87932	D	0	.	14.473	0.67529	0.0:0.0:1.0:0.0	.	217	Q8NGG0	OR8J3_HUMAN	F	217	ENSP00000301529:S217F	ENSP00000301529:S217F	S	-	2	0	OR8J3	55661121	1.000000	0.71417	0.818000	0.32626	0.757000	0.42996	5.728000	0.68531	1.553000	0.49476	0.297000	0.19635	TCT	OR8J3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.363	OR8J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8J3	HGNC	protein_coding	OTTHUMT00000391542.1	G	NM_001004064		55904545	-1	no_errors	ENST00000301529	ensembl	human	known	70_37	missense	SNP	0.527	A
OR8K5	219453	genome.wustl.edu	37	11	55927085	55927085	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:55927085C>G	ENST00000313447.1	-	1	708	c.709G>C	c.(709-711)Gct>Cct	p.A237P		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	237						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A237T(1)		large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				GTGGAGAAAGCCTTTTTCCTG	0.408																																																	1	Substitution - Missense(1)	lung(1)											85.0	80.0	82.0					11																	55927085		2201	4296	6497	SO:0001583	missense	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.709G>C	11.37:g.55927085C>G	ENSP00000323853:p.Ala237Pro		Q6IFB5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A237P	ENST00000313447.1	37	c.709	CCDS31521.1	11	.	.	.	.	.	.	.	.	.	.	c	14.32	2.500187	0.44455	.	.	ENSG00000181752	ENST00000313447	T	0.00363	7.83	3.98	3.06	0.35304	GPCR, rhodopsin-like superfamily (1);	0.351885	0.24431	N	0.038600	T	0.01592	0.0051	H	0.99454	4.575	0.32250	N	0.571499	D	0.69078	0.997	D	0.67231	0.95	T	0.02766	-1.1113	10	0.87932	D	0	.	11.6173	0.51096	0.1805:0.8195:0.0:0.0	.	237	Q8NH50	OR8K5_HUMAN	P	237	ENSP00000323853:A237P	ENSP00000323853:A237P	A	-	1	0	OR8K5	55683661	0.994000	0.37717	0.954000	0.39281	0.155000	0.21991	3.064000	0.49986	1.019000	0.39547	-0.377000	0.06932	GCT	OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.408	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55927085	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	missense	SNP	1.000	G
OR5M1	390168	genome.wustl.edu	37	11	56380697	56380697	+	Silent	SNP	G	G	A	rs371477399		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:56380697G>A	ENST00000526538.1	-	1	281	c.282C>T	c.(280-282)taC>taT	p.Y94Y		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						AGCATCCAGCGTAGGAGATGG	0.448																																																	0								G		1,3861		0,1,1930	152.0	141.0	144.0		282	-0.3	1.0	11		144	3,8267		0,3,4132	no	coding-synonymous	OR5M1	NM_001004740.1		0,4,6062	AA,AG,GG		0.0363,0.0259,0.033		94/316	56380697	4,12128	1931	4135	6066	SO:0001819	synonymous_variant	390168			AB065742	CCDS53631.1	11q11	2012-08-09				ENSG00000255012		"""GPCR / Class A : Olfactory receptors"""	8352	protein-coding gene	gene with protein product							Standard	NM_001004740		Approved	OST050	uc001nja.1	Q8NGP8		ENST00000526538.1:c.282C>T	11.37:g.56380697G>A			Q6IF60|Q96RB6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y94	ENST00000526538.1	37	c.282	CCDS53631.1	11																																																																																			OR5M1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.448	OR5M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M1	HGNC	protein_coding	OTTHUMT00000391610.1	G	NM_001004740		56380697	-1	no_errors	ENST00000526538	ensembl	human	known	70_37	silent	SNP	0.015	A
OR10G8	219869	genome.wustl.edu	37	11	123901075	123901075	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:123901075G>T	ENST00000431524.1	+	1	779	c.746G>T	c.(745-747)tGc>tTc	p.C249F		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GTGGTCCTTTGCTTCTTTGGC	0.552																																																	0													143.0	124.0	130.0					11																	123901075		2201	4297	6498	SO:0001583	missense	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.746G>T	11.37:g.123901075G>T	ENSP00000389072:p.Cys249Phe		B2RNJ3|Q6IEV2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.C249F	ENST00000431524.1	37	c.746	CCDS31704.1	11	.	.	.	.	.	.	.	.	.	.	G	4.238	0.043153	0.08196	.	.	ENSG00000234560	ENST00000431524	T	0.00051	8.81	2.91	2.91	0.33838	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46758	D	0.000278	T	0.00109	0.0003	N	0.01352	-0.895	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63143	-0.6703	10	0.54805	T	0.06	.	7.0321	0.24972	0.0:0.1866:0.6227:0.1907	.	249	Q8NGN5	O10G8_HUMAN	F	249	ENSP00000389072:C249F	ENSP00000389072:C249F	C	+	2	0	OR10G8	123406285	0.333000	0.24731	0.985000	0.45067	0.105000	0.19272	1.973000	0.40550	1.611000	0.50210	0.557000	0.71058	TGC	OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	G	NM_001004464		123901075	+1	no_errors	ENST00000431524	ensembl	human	known	70_37	missense	SNP	0.001	T
PARP4	143	genome.wustl.edu	37	13	25021323	25021323	+	Splice_Site	SNP	A	A	G	rs73172125		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:25021323A>G	ENST00000381989.3	-	26	3221	c.3116T>C	c.(3115-3117)aTa>aCa	p.I1039T		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1039	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell death (GO:0008219)|cellular protein modification process (GO:0006464)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|inflammatory response (GO:0006954)|protein ADP-ribosylation (GO:0006471)|response to drug (GO:0042493)|transport (GO:0006810)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.I1039T(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TTGGTCTTCTATCTATTTATA	0.408																																																	2	Substitution - Missense(2)	prostate(1)|stomach(1)											40.0	41.0	41.0					13																	25021323		2203	4300	6503	SO:0001630	splice_region_variant	143			AF057160	CCDS9307.1	13q11	2010-09-29	2004-08-20	2004-08-26	ENSG00000102699	ENSG00000102699		"""Poly (ADP-ribose) polymerases"""	271	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 5C"""	607519	"""ADP-ribosyltransferase (NAD+; poly (ADP-ribose) polymerase)-like 1"""	ADPRTL1		10644454	Standard	NM_006437		Approved	VAULT3, p193, VPARP, VWA5C	uc001upl.3	Q9UKK3	OTTHUMG00000016582	ENST00000381989.3:c.3115-1T>C	13.37:g.25021323A>G			O75903|Q14682|Q5QNZ9|Q9H1M6	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom	p.I1039T	ENST00000381989.3	37	c.3116	CCDS9307.1	13	.	.	.	.	.	.	.	.	.	.	A	17.08	3.297585	0.60086	.	.	ENSG00000102699	ENST00000381989	T	0.23147	1.92	4.69	4.69	0.59074	von Willebrand factor, type A (2);	0.215738	0.48767	D	0.000175	T	0.42177	0.1191	M	0.79475	2.455	0.40246	D	0.978015	P	0.45348	0.856	P	0.51055	0.657	T	0.48222	-0.9054	10	0.72032	D	0.01	-21.476	12.4624	0.55738	1.0:0.0:0.0:0.0	.	1039	Q9UKK3	PARP4_HUMAN	T	1039	ENSP00000371419:I1039T	ENSP00000371419:I1039T	I	-	2	0	PARP4	23919323	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	4.226000	0.58606	2.105000	0.64084	0.514000	0.50259	ATA	PARP4	-	pfam_VWF_A,pfscan_VWF_A		0.408	PARP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP4	HGNC	protein_coding	OTTHUMT00000044189.1	A	NM_006437	Missense_Mutation	25021323	-1	no_errors	ENST00000381989	ensembl	human	known	70_37	missense	SNP	1.000	G
PBX2P1	5088	genome.wustl.edu	37	3	142897268	142897269	+	RNA	INS	-	-	TTGT	rs71140428|rs150105838		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:142897268_142897269insTTGT	ENST00000560287.1	+	0	2142_2143									pre-B-cell leukemia homeobox 2 pseudogene 1																		GGGGAAGTAGCTTGtttttttt	0.322																																																	0																																												5088					3q24	2014-03-25	2007-01-30	2007-01-30	ENSG00000244171	ENSG00000244171		"""Homeoboxes / TALE class"""	8635	pseudogene	pseudogene			"""pre-B-cell leukemia transcription factor pseudogene 1"""	PBX2, PBXP1		1682799	Standard	NG_002434		Approved				OTTHUMG00000159350		3.37:g.142897269_142897272dupTTGT				RNA	INS	-	NULL	ENST00000560287.1	37	NULL		3																																																																																			PBX2P1	-	-		0.322	PBX2P1-002	KNOWN	basic	processed_transcript	PBX2P1	HGNC	pseudogene	OTTHUMT00000417717.1	-	NG_002434		142897269	+1	no_errors	ENST00000560287	ensembl	human	known	70_37	rna	INS	0.430:0.352	TTGT
PCDHA2	56146	genome.wustl.edu	37	5	140176967	140176967	+	Intron	SNP	T	T	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:140176967T>C	ENST00000526136.1	+	1	2388				PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Silent_p.S806S|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018905.2	NP_061728.1	Q9Y5H9	PCDA2_HUMAN	protocadherin alpha 2						cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAATTCTAAAATTGTTC	0.328																																																	0													22.0	25.0	24.0					5																	140176967		2198	4299	6497	SO:0001627	intron_variant	56146			AF152480	CCDS54914.1, CCDS64269.1	5q31	2010-11-26				ENSG00000204969		"""Cadherins / Protocadherins : Clustered"""	8668	other	complex locus constituent	"""KIAA0345-like 12"""	606308				10380929	Standard	NM_018905		Approved			Q9Y5H9		ENST00000526136.1:c.2388+30T>C	5.37:g.140176967T>C			O75287|Q9BTV3	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S806	ENST00000526136.1	37	c.2418	CCDS54914.1	5																																																																																			PCDHA2	-	NULL		0.328	PCDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA2	HGNC	protein_coding	OTTHUMT00000372877.3	T	NM_018905		140176967	+1	no_errors	ENST00000378132	ensembl	human	known	70_37	silent	SNP	0.029	C
PCDHA3	56145	genome.wustl.edu	37	5	140182480	140182480	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:140182480G>A	ENST00000522353.2	+	1	1698	c.1698G>A	c.(1696-1698)ctG>ctA	p.L566L	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Silent_p.L566L|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	566					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCACTGCTGATGCCTCGGG	0.692																																																	0													88.0	88.0	88.0					5																	140182480		2203	4298	6501	SO:0001819	synonymous_variant	56145			AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.1698G>A	5.37:g.140182480G>A			O75286	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L566	ENST00000522353.2	37	c.1698	CCDS54915.1	5																																																																																			PCDHA3	-	superfamily_Cadherin-like		0.692	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA3	HGNC	protein_coding	OTTHUMT00000372848.2	G	NM_018906		140182480	+1	no_errors	ENST00000522353	ensembl	human	known	70_37	silent	SNP	0.993	A
PDLIM1	9124	genome.wustl.edu	37	10	97050682	97050682	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:97050682G>A	ENST00000329399.6	-	0	99				PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1						regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGCGCGGCTGTGGCGGGCGA	0.736																																																	0													11.0	15.0	13.0					10																	97050682		2192	4287	6479	SO:0001623	5_prime_UTR_variant	9124			U90878	CCDS7441.1	10q23.1	2008-07-29	2008-07-29		ENSG00000107438	ENSG00000107438			2067	protein-coding gene	gene with protein product	"""carboxyl terminal LIM domain protein 1"", ""elfin"""	605900	"""PDZ and LIM domain 1 (elfin)"""	CLIM1		10861853	Standard	NM_020992		Approved	CLP-36, hCLIM1, CLP36	uc001kkh.4	O00151	OTTHUMG00000018810	ENST00000329399.6:c.-10C>T	10.37:g.97050682G>A			B2RBS6|Q5VZH5|Q9BPZ9	RNA	SNP	-	NULL	ENST00000329399.6	37	NULL	CCDS7441.1	10																																																																																			PDLIM1	-	-		0.736	PDLIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM1	HGNC	protein_coding	OTTHUMT00000049508.1	G			97050682	-1	no_errors	ENST00000477757	ensembl	human	known	70_37	rna	SNP	0.000	A
PICALM	8301	genome.wustl.edu	37	11	85779764	85779764	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr11:85779764G>A	ENST00000393346.3	-	1	207	c.59C>T	c.(58-60)tCt>tTt	p.S20F	PICALM_ENST00000356360.5_Missense_Mutation_p.S20F|PICALM_ENST00000528398.1_Intron|PICALM_ENST00000526033.1_Missense_Mutation_p.S20F|PICALM_ENST00000532317.1_Missense_Mutation_p.S20F|PICALM_ENST00000528411.1_5'UTR			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	20	ENTH. {ECO:0000255|PROSITE- ProRule:PRU00243}.				axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGATACGGCAGAGCCGGTGAC	0.652			T	"""MLLT10, MLL"""	"""TALL, AML, """																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0													82.0	69.0	73.0					11																	85779764		2203	4299	6502	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.59C>T	11.37:g.85779764G>A	ENSP00000377015:p.Ser20Phe		B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.S20F	ENST00000393346.3	37	c.59	CCDS8272.1	11	.	.	.	.	.	.	.	.	.	.	G	15.69	2.906900	0.52333	.	.	ENSG00000073921	ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000356360	T;T;T;T	0.17854	2.27;2.25;2.26;2.25	4.72	3.79	0.43588	ENTH/VHS (2);Epsin-like, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.43033	0.1229	M	0.87900	2.915	0.80722	D	1	D;P;P	0.53312	0.959;0.692;0.624	P;P;P	0.60236	0.871;0.581;0.58	T	0.52697	-0.8541	9	.	.	.	-4.605	14.4762	0.67548	0.0:0.0:0.8518:0.1482	.	20;20;20	F8VPG7;Q13492;Q13492-3	.;PICAL_HUMAN;.	F	20	ENSP00000436958:S20F;ENSP00000433846:S20F;ENSP00000377015:S20F;ENSP00000348718:S20F	.	S	-	2	0	PICALM	85457412	1.000000	0.71417	0.928000	0.36995	0.020000	0.10135	8.952000	0.93031	1.310000	0.45006	0.557000	0.71058	TCT	PICALM	-	pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N		0.652	PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PICALM	HGNC	protein_coding	OTTHUMT00000392224.1	G	NM_007166		85779764	-1	no_errors	ENST00000393346	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	rs104886003		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> A (in CWS5 and HCC; also found in a glioblastoma multiforme sample). {ECO:0000269|PubMed:15608678, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:23246288}.|E -> G (in KERSEB; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:17673550}.|E -> K (in MCAP, KERSEB, CRC and BC; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	899	Substitution - Missense(899)	breast(308)|large_intestine(286)|urinary_tract(97)|lung(44)|endometrium(37)|ovary(25)|stomach(17)|upper_aerodigestive_tract(16)|skin(14)|central_nervous_system(13)|cervix(13)|thyroid(7)|oesophagus(7)|penis(4)|kidney(3)|soft_tissue(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|NS(1)|pituitary(1)											61.0	60.0	60.0					3																	178936091		1813	4072	5885	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1633G>A	3.37:g.178936091G>A	ENSP00000263967:p.Glu545Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E545K	ENST00000263967.3	37	c.1633	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.703347	0.96812	.	.	ENSG00000121879	ENST00000263967	T	0.63255	-0.03	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.73822	0.3636	L	0.51914	1.62	0.80722	D	1	D	0.62365	0.991	D	0.62955	0.909	T	0.68872	-0.5294	10	0.32370	T	0.25	-25.7963	20.0024	0.97423	0.0:0.0:1.0:0.0	.	545	P42336	PK3CA_HUMAN	K	545	ENSP00000263967:E545K	ENSP00000263967:E545K	E	+	1	0	PIK3CA	180418785	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAG	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.353	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936091	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PLB1	151056	genome.wustl.edu	37	2	28812907	28812908	+	In_Frame_Ins	INS	-	-	TTT			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:28812907_28812908insTTT	ENST00000327757.5	+	29	2096_2097	c.2052_2053insTTT	c.(2053-2055)ttt>TTTttt	p.685_685F>FF	PLB1_ENST00000329020.6_In_Frame_Ins_p.373_373F>FF|PLB1_ENST00000422425.2_In_Frame_Ins_p.674_674F>FF	NM_153021.4	NP_694566.4	Q6P1J6	PLB1_HUMAN	phospholipase B1	685	4 X 308-326 AA approximate repeats.				glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTCGTCATAAGTTTGAAAACAA	0.52																																																	0																																										SO:0001652	inframe_insertion	151056				CCDS33168.1, CCDS54340.1	2p23.3	2014-03-14			ENSG00000163803	ENSG00000163803	3.1.1.4, 3.1.1.5		30041	protein-coding gene	gene with protein product		610179				12150957	Standard	NM_153021		Approved	PLB, FLJ30866	uc002rmb.2	Q6P1J6	OTTHUMG00000152014	ENST00000327757.5:c.2053_2055dupTTT	2.37:g.28812908_28812910dupTTT	ENSP00000330442:p.Phe685dup		A8KAX2|Q53S03|Q8IUP7|Q96DP9	In_Frame_Ins	INS	pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type	p.674in_frame_insF	ENST00000327757.5	37	c.2019_2020	CCDS33168.1	2																																																																																			PLB1	-	NULL		0.520	PLB1-012	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PLB1	HGNC	protein_coding	OTTHUMT00000353348.2	-			28812908	+1	no_errors	ENST00000422425	ensembl	human	known	70_37	in_frame_ins	INS	0.053:0.857	TTT
POGK	57645	genome.wustl.edu	37	1	166810229	166810229	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:166810229G>A	ENST00000367875.1	+	2	396	c.36G>A	c.(34-36)ctG>ctA	p.L12L	POGK_ENST00000367876.4_Silent_p.L12L|POGK_ENST00000537173.1_5'UTR|POGK_ENST00000536514.1_5'UTR			Q9P215	POGK_HUMAN	pogo transposable element with KRAB domain	12					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	22						ATTTGAGCCTGAAAGAAGAGG	0.512																																					GBM(76;192 1530 30153 48742)												0													109.0	115.0	113.0					1																	166810229		2203	4300	6503	SO:0001819	synonymous_variant	57645			AB040946	CCDS1254.1	1q23.2	2013-01-08			ENSG00000143157	ENSG00000143157		"""-"""	18800	protein-coding gene	gene with protein product	"""KRAB box domain containing 2"""						Standard	NM_017542		Approved	KIAA15131, LST003, BASS2, KRBOX2	uc001gdt.1	Q9P215	OTTHUMG00000034325	ENST00000367875.1:c.36G>A	1.37:g.166810229G>A			Q5TIJ1|Q8TE07	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.L12	ENST00000367875.1	37	c.36	CCDS1254.1	1																																																																																			POGK	-	NULL		0.512	POGK-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	POGK	HGNC	protein_coding	OTTHUMT00000082888.1	G	NM_017542		166810229	+1	no_errors	ENST00000367875	ensembl	human	known	70_37	silent	SNP	1.000	A
POT1	25913	genome.wustl.edu	37	7	124503594	124503594	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr7:124503594G>A	ENST00000357628.3	-	8	954	c.356C>T	c.(355-357)tCa>tTa	p.S119L	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	119					DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						ATACTTGCTTGAAGTGCGAGG	0.423																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0													138.0	130.0	133.0					7																	124503594		2203	4299	6502	SO:0001583	missense	25913			AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.356C>T	7.37:g.124503594G>A	ENSP00000350249:p.Ser119Leu		O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd	p.S119L	ENST00000357628.3	37	c.356	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	G	19.36	3.813118	0.70912	.	.	ENSG00000128513	ENST00000357628;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T	0.54071	0.59	5.44	5.44	0.79542	Nucleic acid-binding, OB-fold-like (1);Telomere end binding protein (2);Nucleic acid-binding, OB-fold (1);	0.129541	0.53938	D	0.000055	T	0.50326	0.1609	L	0.51422	1.61	0.80722	D	1	B	0.16802	0.019	B	0.15052	0.012	T	0.42085	-0.9472	10	0.38643	T	0.18	.	18.2686	0.90060	0.0:0.0:1.0:0.0	.	119	Q9NUX5	POTE1_HUMAN	L	119;119;119;119;118	ENSP00000350249:S119L	ENSP00000265391:S118L	S	-	2	0	POT1	124290830	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.611000	0.82962	2.543000	0.85770	0.650000	0.86243	TCA	POT1	-	pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd		0.423	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	HGNC	protein_coding	OTTHUMT00000347861.1	G			124503594	-1	no_errors	ENST00000357628	ensembl	human	known	70_37	missense	SNP	1.000	A
POTEF	728378	genome.wustl.edu	37	2	130877823	130877823	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:130877823G>C	ENST00000409914.2	-	3	665	c.266C>G	c.(265-267)tCt>tGt	p.S89C	POTEF_ENST00000361163.4_Missense_Mutation_p.S89C|POTEF_ENST00000360967.5_Missense_Mutation_p.S89C|POTEF_ENST00000357462.5_Missense_Mutation_p.S89C	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	89					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTTCATAGCAGAGTCGTCGTG	0.617																																																	0													93.0	119.0	110.0					2																	130877823		2203	4294	6497	SO:0001583	missense	728378			EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.266C>G	2.37:g.130877823G>C	ENSP00000386786:p.Ser89Cys		A6NC34	Missense_Mutation	SNP	pfam_Actin-like,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-like	p.S89C	ENST00000409914.2	37	c.266	CCDS46409.1	2	.	.	.	.	.	.	.	.	.	.	.	8.751	0.921295	0.17982	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78816	-1.21;-1.21;1.62;1.27	0.62	-0.589	0.11683	.	.	.	.	.	T	0.77883	0.4197	L	0.61218	1.895	0.09310	N	1	D	0.62365	0.991	P	0.52710	0.707	T	0.67209	-0.5728	8	0.87932	D	0	.	.	.	.	.	89	A5A3E0	POTEF_HUMAN	C	89	ENSP00000350052:S89C;ENSP00000386786:S89C;ENSP00000354232:S89C;ENSP00000355012:S89C	ENSP00000350052:S89C	S	-	2	0	POTEF	130594293	0.001000	0.12720	0.003000	0.11579	0.016000	0.09150	-0.132000	0.10467	-0.285000	0.09089	0.164000	0.16699	TCT	POTEF	-	NULL		0.617	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEF	HGNC	protein_coding	OTTHUMT00000331889.2	G	NM_001099771		130877823	-1	no_errors	ENST00000357462	ensembl	human	known	70_37	missense	SNP	0.005	C
PRIMA1	145270	genome.wustl.edu	37	14	94245521	94245521	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:94245521C>T	ENST00000393140.1	-	3	332		c.e3+1		PRIMA1_ENST00000393143.1_Splice_Site|PRIMA1_ENST00000316227.3_Splice_Site	NM_178013.3	NP_821092.1	Q86XR5	PRIMA_HUMAN	proline rich membrane anchor 1						establishment of localization in cell (GO:0051649)|neurotransmitter catabolic process (GO:0042135)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|synapse (GO:0045202)				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		CCATTACTTACCTggggcgga	0.647																																																	0													14.0	15.0	15.0					14																	94245521		2175	4253	6428	SO:0001630	splice_region_variant	145270				CCDS9912.1	14q32.13	2008-08-29			ENSG00000175785	ENSG00000175785			18319	protein-coding gene	gene with protein product	"""membrane anchor of acetylcholinesterase"""	613851				11804574	Standard	NM_178013		Approved	PRIMA	uc001ybw.1	Q86XR5	OTTHUMG00000141313	ENST00000393140.1:c.229+1G>A	14.37:g.94245521C>T			Q86XR6	Splice_Site	SNP	-	e2+1	ENST00000393140.1	37	c.229+1	CCDS9912.1	14	.	.	.	.	.	.	.	.	.	.	c	15.80	2.941362	0.53079	.	.	ENSG00000175785	ENST00000393140;ENST00000393143;ENST00000316227	.	.	.	4.63	4.63	0.57726	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0054	0.58701	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRIMA1	93315274	1.000000	0.71417	0.997000	0.53966	0.702000	0.40608	3.737000	0.55060	2.140000	0.66376	0.556000	0.70494	.	PRIMA1	-	-		0.647	PRIMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRIMA1	HGNC	protein_coding	OTTHUMT00000280658.1	C	NM_178013	Intron	94245521	-1	no_errors	ENST00000393140	ensembl	human	known	70_37	splice_site	SNP	1.000	T
PWP2	5822	genome.wustl.edu	37	21	45539369	45539369	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr21:45539369G>A	ENST00000291576.7	+	10	1280	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	385					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		CTCGCCCGACGGACAGTACAT	0.647																																																	0													34.0	22.0	26.0					21																	45539369		2193	4288	6481	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.1153G>A	21.37:g.45539369G>A	ENSP00000291576:p.Gly385Arg		B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.G385R	ENST00000291576.7	37	c.1153	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	19.42	3.823533	0.71143	.	.	ENSG00000241945	ENST00000291576	T	0.11169	2.8	4.77	4.77	0.60923	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (2);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.39600	0.1084	M	0.87381	2.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.43653	-0.9378	10	0.87932	D	0	-14.5679	16.8446	0.85977	0.0:0.0:1.0:0.0	.	385	Q15269	PWP2_HUMAN	R	385	ENSP00000291576:G385R	ENSP00000291576:G385R	G	+	1	0	PWP2	44363797	1.000000	0.71417	0.999000	0.59377	0.264000	0.26372	8.657000	0.91106	2.586000	0.87340	0.561000	0.74099	GGA	PWP2	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.647	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	G	NM_005049		45539369	+1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	1.000	A
RABGAP1L	9910	genome.wustl.edu	37	1	174945277	174945277	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:174945277G>A	ENST00000367688.3	+	3	392	c.213G>A	c.(211-213)gaG>gaA	p.E71E	RABGAP1L_ENST00000392064.2_Silent_p.E126E|RABGAP1L_ENST00000367687.1_Silent_p.E195E|RABGAP1L_ENST00000489615.1_Silent_p.E188E|RABGAP1L_ENST00000347255.2_Silent_p.E196E|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000325589.5_Silent_p.E176E	NM_001243764.1	NP_001230693.1	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	71										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GGCTGGTGGAGACTGAAGAGG	0.433																																																	0																																										SO:0001819	synonymous_variant	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367688.3:c.213G>A	1.37:g.174945277G>A			B7ZAA4	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.E196	ENST00000367688.3	37	c.588	CCDS55662.1	1																																																																																			RABGAP1L	-	NULL		0.433	RABGAP1L-015	PUTATIVE	basic|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084573.2	G	NM_001243765		174945277	+1	no_errors	ENST00000347255	ensembl	human	known	70_37	silent	SNP	1.000	A
RAP1GDS1	5910	genome.wustl.edu	37	4	99264323	99264323	+	Missense_Mutation	SNP	G	G	A	rs377518587		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:99264323G>A	ENST00000408927.3	+	3	259	c.146G>A	c.(145-147)gGa>gAa	p.G49E	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.G50E|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.G50E|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.G49E|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.G50E|RAP1GDS1_ENST00000512857.1_3'UTR|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.G50E	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	49					myosin filament assembly (GO:0031034)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of Rho GTPase activity (GO:0032321)|vascular smooth muscle contraction (GO:0014829)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAAGCAAGTGGAATACTTCAG	0.378			T	NUP98	T-ALL																																			Dom	yes		4	4q21-q25	5910	"""RAP1, GTP-GDP dissociation stimulator 1"""		L	0								G	GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY,GLU/GLY	0,3700		0,0,1850	85.0	84.0	85.0		149,146,149,146,149,149	5.8	1.0	4		85	1,8169		0,1,4084	no	missense,missense,missense,missense,missense,missense	RAP1GDS1	NM_001100426.1,NM_001100427.1,NM_001100428.1,NM_001100429.1,NM_001100430.1,NM_021159.4	98,98,98,98,98,98	0,1,5934	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	50/609,49/608,50/560,49/559,50/517,50/608	99264323	1,11869	1850	4085	5935	SO:0001583	missense	5910				CCDS43253.1, CCDS43254.1, CCDS47105.1, CCDS47106.1, CCDS47107.1, CCDS47108.1	4q23-q25	2013-02-14			ENSG00000138698	ENSG00000138698		"""Armadillo repeat containing"""	9859	protein-coding gene	gene with protein product		179502				8262526, 17951244	Standard	NM_001100426		Approved	SmgGDS	uc003htw.4	P52306	OTTHUMG00000160987	ENST00000408927.3:c.146G>A	4.37:g.99264323G>A	ENSP00000386153:p.Gly49Glu		E9PH06|G5E9P9|Q499L7|Q4KMV2|Q4QQI8|Q9BUW9|Q9BUX6|Q9NYM2|Q9NZA8	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.G50E	ENST00000408927.3	37	c.149	CCDS43253.1	4	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790356	0.90367	0.0	1.22E-4	ENSG00000138698	ENST00000380158;ENST00000264572;ENST00000408927;ENST00000514122;ENST00000453712;ENST00000511212;ENST00000408900;ENST00000339360	T;T;T;T;T;T;T;T	0.72615	0.42;1.47;-0.67;1.21;-0.65;0.22;0.42;-0.62	5.78	5.78	0.91487	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.83096	0.5180	L	0.58101	1.795	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;0.999;0.997;0.999;1.0;0.987;1.0	D	0.83505	0.0077	10	0.72032	D	0.01	-16.43	20.0044	0.97430	0.0:0.0:1.0:0.0	.	50;49;50;49;50;50;49	E9PH06;P52306-2;Q499L7;P52306;Q4QQI8;G5E9P9;B3KNU0	.;.;.;GDS1_HUMAN;.;.;.	E	50;50;49;49;50;50;49;50	ENSP00000369503:G50E;ENSP00000264572:G50E;ENSP00000386153:G49E;ENSP00000424324:G49E;ENSP00000407157:G50E;ENSP00000421599:G50E;ENSP00000386223:G49E;ENSP00000340454:G50E	ENSP00000264572:G50E	G	+	2	0	RAP1GDS1	99483346	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.263000	0.95617	2.714000	0.92807	0.650000	0.86243	GGA	RAP1GDS1	-	superfamily_ARM-type_fold		0.378	RAP1GDS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RAP1GDS1	HGNC	protein_coding	OTTHUMT00000363273.2	G	NM_001100426		99264323	+1	no_errors	ENST00000339360	ensembl	human	known	70_37	missense	SNP	1.000	A
RBL1	5933	genome.wustl.edu	37	20	35717489	35717489	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:35717489C>T	ENST00000373664.3	-	2	259	c.193G>A	c.(193-195)Gtt>Att	p.V65I	RBL1_ENST00000344359.3_Missense_Mutation_p.V65I	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1	65					chromatin modification (GO:0016568)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell cycle (GO:0051726)|regulation of lipid kinase activity (GO:0043550)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CGGCATGCAACATATAATGAA	0.378																																																	0													99.0	85.0	90.0					20																	35717489		2203	4300	6503	SO:0001583	missense	5933			L14812	CCDS13289.1, CCDS13290.1	20q11.23	2014-03-11	2014-03-11		ENSG00000080839	ENSG00000080839			9893	protein-coding gene	gene with protein product		116957				1833063	Standard	NM_183404		Approved	p107, cp107, PRB1	uc002xgi.3	P28749	OTTHUMG00000032406	ENST00000373664.3:c.193G>A	20.37:g.35717489C>T	ENSP00000362768:p.Val65Ile		A8K2W5|Q4VXA0|Q8N5K6|Q9H1L5|Q9H1M1	Missense_Mutation	SNP	pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,pfam_Rb_C,superfamily_Cyclin-like,smart_Cyclin-like	p.V65I	ENST00000373664.3	37	c.193	CCDS13289.1	20	.	.	.	.	.	.	.	.	.	.	C	33	5.275391	0.95459	.	.	ENSG00000080839	ENST00000373664;ENST00000344359	D;D	0.93906	-3.08;-3.31	5.22	5.22	0.72569	.	0.268167	0.36628	N	0.002489	D	0.94621	0.8266	L	0.59436	1.845	0.34845	D	0.741118	P;D	0.54964	0.897;0.969	B;P	0.55011	0.44;0.766	D	0.95476	0.8556	10	0.33940	T	0.23	-4.6466	18.5708	0.91135	0.0:1.0:0.0:0.0	.	65;65	P28749-2;P28749	.;RBL1_HUMAN	I	65	ENSP00000362768:V65I;ENSP00000343646:V65I	ENSP00000343646:V65I	V	-	1	0	RBL1	35150903	1.000000	0.71417	0.992000	0.48379	0.961000	0.63080	4.051000	0.57412	2.716000	0.92895	0.655000	0.94253	GTT	RBL1	-	NULL		0.378	RBL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBL1	HGNC	protein_coding	OTTHUMT00000079067.2	C	NM_002895		35717489	-1	no_errors	ENST00000373664	ensembl	human	known	70_37	missense	SNP	1.000	T
REG1A	5967	genome.wustl.edu	37	2	79348029	79348029	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:79348029G>A	ENST00000233735.1	+	2	145	c.42G>A	c.(40-42)ctG>ctA	p.L14L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	14					positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TCTCCTGCCTGATGTTTCTGT	0.458																																																	0													120.0	100.0	107.0					2																	79348029		2203	4300	6503	SO:0001819	synonymous_variant	5967				CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.42G>A	2.37:g.79348029G>A			P11379|Q4ZG28	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.L14	ENST00000233735.1	37	c.42	CCDS1964.1	2																																																																																			REG1A	-	NULL		0.458	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REG1A	HGNC	protein_coding	OTTHUMT00000252289.1	G	NM_002909		79348029	+1	no_errors	ENST00000233735	ensembl	human	known	70_37	silent	SNP	0.117	A
REPS1	85021	genome.wustl.edu	37	6	139229911	139229911	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:139229911G>A	ENST00000450536.2	-	18	2684	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	REPS1_ENST00000367663.4_Nonsense_Mutation_p.R677*|REPS1_ENST00000258062.5_Nonsense_Mutation_p.R703*|REPS1_ENST00000415951.2_Nonsense_Mutation_p.R645*|REPS1_ENST00000409812.2_Nonsense_Mutation_p.R613*			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	704	Interaction with RALBP1. {ECO:0000250}.				receptor-mediated endocytosis (GO:0006898)	coated pit (GO:0005905)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|SH3 domain binding (GO:0017124)	p.R651*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		AATCTTCTTCGAACAGGTTTA	0.378																																																	1	Substitution - Nonsense(1)	large_intestine(1)											164.0	148.0	154.0					6																	139229911		2203	4300	6503	SO:0001587	stop_gained	85021				CCDS5193.2, CCDS47488.1, CCDS69212.1, CCDS69213.1	6q24.1	2013-01-10			ENSG00000135597	ENSG00000135597		"""EF-hand domain containing"""	15578	protein-coding gene	gene with protein product		614825					Standard	XM_005267177		Approved		uc011edr.2	Q96D71	OTTHUMG00000015685	ENST00000450536.2:c.2110C>T	6.37:g.139229911G>A	ENSP00000392065:p.Arg704*		B7ZBZ8|B7ZBZ9|B7ZC00|J3KP76|Q5JWJ5|Q5JWJ6|Q5JWJ7|Q8NDR7|Q8WU62|Q9BXY9	Nonsense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.R704*	ENST00000450536.2	37	c.2110		6	.	.	.	.	.	.	.	.	.	.	G	37	6.449137	0.97577	.	.	ENSG00000135597	ENST00000450536;ENST00000367663;ENST00000529597;ENST00000409812;ENST00000258062;ENST00000415951;ENST00000367668	.	.	.	5.35	2.57	0.30868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-10.3038	8.537	0.33368	0.0679:0.0:0.5428:0.3893	.	.	.	.	X	704;677;662;613;703;645;652	.	ENSP00000258062:R703X	R	-	1	2	REPS1	139271604	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	3.200000	0.51051	0.373000	0.24621	-0.291000	0.09656	CGA	REPS1	-	NULL		0.378	REPS1-001	KNOWN	basic|appris_candidate_longest	protein_coding	REPS1	HGNC	protein_coding	OTTHUMT00000042447.3	G			139229911	-1	no_errors	ENST00000450536	ensembl	human	known	70_37	nonsense	SNP	0.965	A
RNF213	57674	genome.wustl.edu	37	17	78321462	78321462	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:78321462C>T	ENST00000582970.1	+	29	9470	c.9327C>T	c.(9325-9327)taC>taT	p.Y3109Y	RNF213_ENST00000508628.2_Silent_p.Y3158Y|RNF213_ENST00000336301.6_Silent_p.Y1182Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3109					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)			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)			AGAACCTCTACGAGAGCCTCT	0.552																																																	0													88.0	87.0	87.0					17																	78321462		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.9327C>T	17.37:g.78321462C>T			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.Y3109	ENST00000582970.1	37	c.9327	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.552	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78321462	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.721	T
RPGR	6103	genome.wustl.edu	37	X	38146592	38146592	+	Silent	SNP	T	T	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:38146592T>G	ENST00000339363.3	-	14	2442	c.2275A>C	c.(2275-2277)Agg>Cgg	p.R759R	RPGR_ENST00000309513.3_Intron|RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|RPGR_ENST00000338898.3_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000378505.2_Intron			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	759	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						ATCAATTTCCTGCCATACCGT	0.398																																																	0																																										SO:0001819	synonymous_variant	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2275A>C	X.37:g.38146592T>G			B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Silent	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.R759	ENST00000339363.3	37	c.2275		X																																																																																			RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.398	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		T	NM_000328		38146592	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	silent	SNP	0.069	G
PARP2	10038	genome.wustl.edu	37	14	20811642	20811642	+	5'Flank	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:20811642C>T	ENST00000250416.5	+	0	0				RPPH1_ENST00000554988.1_RNA|PARP2_ENST00000429687.3_5'Flank|PARP2_ENST00000527915.1_5'Flank|RP11-203M5.2_ENST00000528210.1_RNA	NM_001042618.1|NM_005484.3	NP_001036083.1|NP_005475.2	Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2						base-excision repair (GO:0006284)|DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway (GO:0097191)|protein ADP-ribosylation (GO:0006471)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|NAD+ ADP-ribosyltransferase activity (GO:0003950)			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGGTGATTTCCCAGAACACA	0.532								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA																																									0																																										SO:0001631	upstream_gene_variant	85495			AF085734	CCDS41910.1, CCDS45077.1	14q11.2-q12	2010-02-16	2008-07-28	2004-08-26	ENSG00000129484	ENSG00000129484		"""Poly (ADP-ribose) polymerases"""	272	protein-coding gene	gene with protein product		607725	"""ADP-ribosyltransferase (NAD+; poly(ADP-ribose) polymerase)-like 2"", ""poly (ADP-ribose) polymerase family, member 2"""	ADPRTL2		10329013, 18353725	Standard	NM_005484		Approved		uc001vxc.3	Q9UGN5	OTTHUMG00000166106		14.37:g.20811642C>T	Exception_encountered		Q8TEU4|Q9NUV2|Q9UMR4|Q9Y6C8	RNA	SNP	-	NULL	ENST00000250416.5	37	NULL	CCDS41910.1	14																																																																																			RPPH1	-	-		0.532	PARP2-002	KNOWN	basic|CCDS	protein_coding	RPPH1	Clone_based_vega_gene	protein_coding	OTTHUMT00000387847.2	C			20811642	-1	no_errors	ENST00000554988	ensembl	human	known	70_37	rna	SNP	0.992	T
RRBP1	6238	genome.wustl.edu	37	20	17606199	17606199	+	Silent	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr20:17606199G>T	ENST00000377813.1	-	12	3315	c.3012C>A	c.(3010-3012)atC>atA	p.I1004I	RRBP1_ENST00000246043.4_Silent_p.I1004I|RRBP1_ENST00000377807.2_Silent_p.I571I|RRBP1_ENST00000470422.1_5'Flank|RRBP1_ENST00000455029.2_Silent_p.I345I|RRBP1_ENST00000360807.4_Silent_p.I571I			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1004					osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CCCTGAGCTCGATGGCCTCCT	0.652																																																	0													156.0	120.0	132.0					20																	17606199		2203	4300	6503	SO:0001819	synonymous_variant	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.3012C>A	20.37:g.17606199G>T			A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Silent	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.I1004	ENST00000377813.1	37	c.3012		20																																																																																			RRBP1	-	NULL		0.652	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17606199	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	silent	SNP	0.000	T
RRM2B	50484	genome.wustl.edu	37	8	103226329	103226329	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:103226329C>T	ENST00000251810.3	-	7	985	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Missense_Mutation_p.E36K|RRM2B_ENST00000395912.2_Missense_Mutation_p.E196K	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	248					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	ACCCTTTCTTCTGAAGGCTTA	0.373								Modulation of nucleotide pools																																									0													113.0	104.0	107.0					8																	103226329		2203	4300	6503	SO:0001583	missense	50484			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.742G>A	8.37:g.103226329C>T	ENSP00000251810:p.Glu248Lys		B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	pfam_RNR_small,superfamily_Ferritin/RNR-like	p.E248K	ENST00000251810.3	37	c.742	CCDS34932.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.53|17.53	3.412166|3.412166	0.62511|0.62511	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000251810;ENST00000535248;ENST00000519317;ENST00000395912|ENST00000522368	D;D;D|.	0.97279|.	-4.32;-4.32;-4.32|.	5.48|5.48	5.48|5.48	0.80851|0.80851	Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);|.	0.100333|.	0.64402|.	D|.	0.000002|.	T|T	0.53465|0.53465	0.1798|0.1798	N|N	0.17474|0.17474	0.49|0.49	0.80722|0.80722	D|D	1|1	B;B;B|.	0.02656|.	0.0;0.0;0.0|.	B;B;B|.	0.12837|.	0.008;0.001;0.002|.	T|T	0.46911|0.46911	-0.9157|-0.9157	10|5	0.15499|.	T|.	0.54|.	.|.	19.7152|19.7152	0.96115|0.96115	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	36;196;248|.	Q7LG56-3;Q7LG56-2;Q7LG56|.	.;.;RIR2B_HUMAN|.	K|K	248;194;36;196|304	ENSP00000251810:E248K;ENSP00000430641:E36K;ENSP00000379248:E196K|.	ENSP00000251810:E248K|.	E|R	-|-	1|2	0|0	RRM2B|RRM2B	103295505|103295505	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.997000|0.997000	0.91878|0.91878	5.987000|5.987000	0.70571|0.70571	2.733000|2.733000	0.93635|0.93635	0.591000|0.591000	0.81541|0.81541	GAA|AGA	RRM2B	-	pfam_RNR_small,superfamily_Ferritin/RNR-like		0.373	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRM2B	HGNC	protein_coding	OTTHUMT00000380191.3	C			103226329	-1	no_errors	ENST00000251810	ensembl	human	known	70_37	missense	SNP	1.000	T
RXRB	6257	genome.wustl.edu	37	6	33162460	33162460	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:33162460C>T	ENST00000374680.3	-	10	1812	c.1601G>A	c.(1600-1602)tGa>tAa	p.*534*	COL11A2_ENST00000374708.4_5'Flank|COL11A2_ENST00000374712.1_5'Flank|COL11A2_ENST00000361917.1_5'Flank|COL11A2_ENST00000341947.2_5'Flank|COL11A2_ENST00000395194.1_5'Flank|COL11A2_ENST00000357486.1_5'Flank|COL11A2_ENST00000395197.1_5'Flank|RXRB_ENST00000374685.4_Silent_p.*538*|COL11A2_ENST00000374714.1_5'Flank|COL11A2_ENST00000374713.1_5'Flank|RXRB_ENST00000544186.1_Silent_p.*348*	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	0					cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	GGTCTGAGCTCAGGCCAGTTG	0.562																																																	0													67.0	62.0	64.0					6																	33162460		1510	2709	4219	SO:0001819	synonymous_variant	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1601G>A	6.37:g.33162460C>T			P28703|Q59G65|Q5JP92|Q5STQ1	Silent	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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.*534	ENST00000374680.3	37	c.1601	CCDS4768.1	6																																																																																			RXRB	-	NULL		0.562	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	C	NM_021976		33162460	-1	no_errors	ENST00000374680	ensembl	human	known	70_37	silent	SNP	1.000	T
RXRB	6257	genome.wustl.edu	37	6	33164323	33164323	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr6:33164323C>T	ENST00000374680.3	-	5	1092	c.881G>A	c.(880-882)gGa>gAa	p.G294E	RXRB_ENST00000413614.2_Missense_Mutation_p.G198E|RXRB_ENST00000374685.4_Missense_Mutation_p.G294E|RXRB_ENST00000544186.1_Missense_Mutation_p.G104E	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	294	Hinge.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	CTCGGGGGCTCCCCCAGCCCC	0.632																																																	0													57.0	73.0	67.0					6																	33164323		1510	2706	4216	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.881G>A	6.37:g.33164323C>T	ENSP00000363812:p.Gly294Glu		P28703|Q59G65|Q5JP92|Q5STQ1	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_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.G294E	ENST00000374680.3	37	c.881	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072071	0.55646	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186;ENST00000413614	T;T;T;D	0.92099	-0.42;-0.42;-0.42;-2.97	4.97	4.97	0.65823	Nuclear hormone receptor, ligand-binding (1);	0.330809	0.31323	N	0.007850	D	0.91600	0.7346	L	0.56199	1.76	0.39989	D	0.975013	D;D;P;B;P;P;D;P	0.62365	0.991;0.988;0.645;0.034;0.685;0.872;0.965;0.872	P;P;B;B;B;P;P;P	0.58013	0.831;0.643;0.265;0.01;0.191;0.501;0.468;0.501	D	0.91663	0.5344	10	0.52906	T	0.07	.	11.4564	0.50185	0.0:0.8185:0.1815:0.0	.	198;294;177;104;294;294;334;294	B7Z3E4;B7Z6J2;B7Z6X3;E9PK95;Q5STQ1;Q5STP9;Q59G65;P28702	.;.;.;.;.;.;.;RXRB_HUMAN	E	294;294;104;198	ENSP00000363817:G294E;ENSP00000363812:G294E;ENSP00000439222:G104E;ENSP00000415561:G198E	ENSP00000363812:G294E	G	-	2	0	RXRB	33272301	0.011000	0.17503	1.000000	0.80357	0.996000	0.88848	0.238000	0.18004	2.577000	0.86979	0.549000	0.68633	GGA	RXRB	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.632	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	C	NM_021976		33164323	-1	no_errors	ENST00000374680	ensembl	human	known	70_37	missense	SNP	1.000	T
SGTA	6449	genome.wustl.edu	37	19	2767201	2767201	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:2767201C>T	ENST00000221566.2	-	4	386	c.225G>A	c.(223-225)ctG>ctA	p.L75L		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	75					viral process (GO:0016032)	cytoplasm (GO:0005737)				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGGCTCCTCAGGTCCTGCG	0.672																																																	0													58.0	52.0	54.0					19																	2767201		2198	4300	6498	SO:0001819	synonymous_variant	6449			AJ223828	CCDS12094.1	19p13	2013-01-10	2003-11-24	2003-11-26		ENSG00000104969		"""Tetratricopeptide (TTC) repeat domain containing"""	10819	protein-coding gene	gene with protein product		603419	"""small glutamine-rich tetratricopeptide repeat (TPR)-containing"""	SGT		9740675, 12735788	Standard	NM_003021		Approved		uc002lwi.1	O43765		ENST00000221566.2:c.225G>A	19.37:g.2767201C>T			D6W610|Q6FIA9|Q9BTZ9	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L75	ENST00000221566.2	37	c.225	CCDS12094.1	19																																																																																			SGTA	-	NULL		0.672	SGTA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGTA	HGNC	protein_coding	OTTHUMT00000451448.2	C	NM_003021		2767201	-1	no_errors	ENST00000221566	ensembl	human	known	70_37	silent	SNP	0.038	T
SLC22A4	6583	genome.wustl.edu	37	5	131676382	131676382	+	Silent	SNP	G	G	A	rs146182196		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr5:131676382G>A	ENST00000200652.3	+	9	1743	c.1569G>A	c.(1567-1569)caG>caA	p.Q523Q	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	523					body fluid secretion (GO:0007589)|carnitine metabolic process (GO:0009437)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cation transmembrane transport (GO:0098655)|organic cation transport (GO:0015695)|quaternary ammonium group transport (GO:0015697)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|carnitine transmembrane transporter activity (GO:0015226)|cation:cation antiporter activity (GO:0015491)|nucleotide binding (GO:0000166)|PDZ domain binding (GO:0030165)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)|symporter activity (GO:0015293)			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Amiloride(DB00594)|Aminohippurate(DB00345)|Benzylpenicillin(DB01053)|Choline(DB00122)|Cimetidine(DB00501)|Clonidine(DB00575)|Desipramine(DB01151)|Guanidine(DB00536)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|L-Arginine(DB00125)|L-Carnitine(DB00583)|L-Lysine(DB00123)|Levofloxacin(DB01137)|Mepyramine(DB06691)|Nicotine(DB00184)|Ofloxacin(DB01165)|Procainamide(DB01035)|Quinidine(DB00908)|Quinine(DB00468)|Spermine(DB00127)|Testosterone(DB00624)|Tiotropium(DB01409)|Verapamil(DB00661)	AGCAGATGCAGAAAGTGAAAT	0.403																																																	0								G		2,4404	4.2+/-10.8	0,2,2201	147.0	142.0	144.0		1569	3.3	1.0	5	dbSNP_134	144	0,8600		0,0,4300	no	coding-synonymous	SLC22A4	NM_003059.2		0,2,6501	AA,AG,GG		0.0,0.0454,0.0154		523/552	131676382	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	6583			AB007448	CCDS4153.1	5q23.3	2013-07-18	2013-07-18		ENSG00000197208	ENSG00000197208		"""Solute carriers"""	10968	protein-coding gene	gene with protein product		604190	"""solute carrier family 22 (organic cation/ergothioneine transporter), member 4"""			9426230, 15795384	Standard	NM_003059		Approved	OCTN1, MGC34546	uc003kwq.3	Q9H015	OTTHUMG00000059648	ENST00000200652.3:c.1569G>A	5.37:g.131676382G>A			O14546	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.Q523	ENST00000200652.3	37	c.1569	CCDS4153.1	5																																																																																			SLC22A4	-	NULL		0.403	SLC22A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A4	HGNC	protein_coding	OTTHUMT00000132661.1	G	NM_003059		131676382	+1	no_errors	ENST00000200652	ensembl	human	known	70_37	silent	SNP	0.999	A
SLC25A12	8604	genome.wustl.edu	37	2	172690498	172690498	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:172690498G>T	ENST00000422440.2	-	8	857	c.820C>A	c.(820-822)Ctt>Att	p.L274I	SLC25A12_ENST00000392592.4_Missense_Mutation_p.L167I	NM_003705.4	NP_003696.2	O75746	CMC1_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 12	274					aspartate transport (GO:0015810)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|L-glutamate transport (GO:0015813)|malate-aspartate shuttle (GO:0043490)|response to calcium ion (GO:0051592)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|upper_aerodigestive_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.216)		L-Aspartic Acid(DB00128)	AAGTCTGCAAGCTGATATAGA	0.338																																																	0													85.0	92.0	90.0					2																	172690498		2203	4298	6501	SO:0001583	missense	8604			Y14494	CCDS33327.1	2q24	2013-05-22	2012-03-29		ENSG00000115840	ENSG00000115840		"""Solute carriers"", ""EF-hand domain containing"""	10982	protein-coding gene	gene with protein product		603667	"""solute carrier family 25 (mitochondrial carrier, Aralar), member 12"""			9722566, 10702666, 11566871	Standard	NM_003705		Approved	Aralar	uc002uhh.3	O75746	OTTHUMG00000134290	ENST00000422440.2:c.820C>A	2.37:g.172690498G>T	ENSP00000388658:p.Leu274Ile		B3KR64|Q96AM8	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.L274I	ENST00000422440.2	37	c.820	CCDS33327.1	2	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916245	0.73098	.	.	ENSG00000115840	ENST00000422440;ENST00000392592	T;T	0.80909	-1.43;-1.41	5.31	5.31	0.75309	.	0.116047	0.64402	D	0.000020	D	0.86264	0.5891	M	0.88704	2.975	0.80722	D	1	P;P	0.50156	0.932;0.932	P;P	0.45037	0.467;0.467	D	0.88757	0.3254	10	0.54805	T	0.06	-16.4458	18.9409	0.92605	0.0:0.0:1.0:0.0	.	167;274	B3KR64;O75746	.;CMC1_HUMAN	I	274;167	ENSP00000388658:L274I;ENSP00000376371:L167I	ENSP00000376371:L167I	L	-	1	0	SLC25A12	172398744	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.866000	0.87056	2.635000	0.89317	0.650000	0.86243	CTT	SLC25A12	-	NULL		0.338	SLC25A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A12	HGNC	protein_coding	OTTHUMT00000259010.2	G	NM_003705		172690498	-1	no_errors	ENST00000422440	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC35G5	83650	genome.wustl.edu	37	8	11189300	11189300	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr8:11189300G>T	ENST00000382435.4	+	1	904	c.685G>T	c.(685-687)Gtg>Ttg	p.V229L		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	229						integral component of membrane (GO:0016021)											ATCTGGCTTGGTGGGGCTGCT	0.627																																																	0													33.0	49.0	43.0					8																	11189300		2199	4286	6485	SO:0001583	missense	83650			AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.685G>T	8.37:g.11189300G>T	ENSP00000371872:p.Val229Leu		A2RRL6	Missense_Mutation	SNP	pfam_DMT	p.V229L	ENST00000382435.4	37	c.685	CCDS5980.1	8	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739361	0.30774	.	.	ENSG00000177710	ENST00000382435	T	0.50001	0.76	.	.	.	.	0.000000	0.40064	N	0.001189	T	0.49355	0.1552	L	0.51422	1.61	0.29937	N	0.821437	D	0.69078	0.997	D	0.79108	0.992	T	0.51252	-0.8729	9	0.06625	T	0.88	-5.5045	5.8679	0.18786	8.0E-4:0.0:0.9992:0.0	.	229	Q96KT7	S35G5_HUMAN	L	229	ENSP00000371872:V229L	ENSP00000371872:V229L	V	+	1	0	SLC35G5	11226710	0.523000	0.26274	0.270000	0.24601	0.272000	0.26649	0.080000	0.14802	0.088000	0.17205	0.089000	0.15464	GTG	SLC35G5	-	pfam_DMT		0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35G5	HGNC	protein_coding	OTTHUMT00000207313.2	G	NM_054028		11189300	+1	no_errors	ENST00000382435	ensembl	human	known	70_37	missense	SNP	0.938	T
SLC7A6	9057	genome.wustl.edu	37	16	68328701	68328701	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr16:68328701C>T	ENST00000566454.1	+	9	1385	c.1116C>T	c.(1114-1116)ttC>ttT	p.F372F	SLC7A6_ENST00000219343.6_Silent_p.F372F	NM_001076785.2	NP_001070253.1			solute carrier family 7 (amino acid transporter light chain, y+L system), member 6											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.0948)		CTTTACTGTTCAATGTAAGCT	0.512																																																	0													179.0	158.0	165.0					16																	68328701		2198	4300	6498	SO:0001819	synonymous_variant	9057			D87432	CCDS32470.1	16q22.1	2013-07-15	2011-07-12		ENSG00000103064	ENSG00000103064		"""Solute carriers"""	11064	protein-coding gene	gene with protein product		605641				9878049	Standard	NM_001076785		Approved	y+LAT-2, KIAA0245, LAT3, LAT-2	uc002evu.2	Q92536	OTTHUMG00000176544	ENST00000566454.1:c.1116C>T	16.37:g.68328701C>T				Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.F372	ENST00000566454.1	37	c.1116	CCDS32470.1	16																																																																																			SLC7A6	-	pfam_AA-permease_dom,pirsf_AA/rel_permease1		0.512	SLC7A6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC7A6	HGNC	protein_coding	OTTHUMT00000432466.1	C	NM_003983		68328701	+1	no_errors	ENST00000219343	ensembl	human	known	70_37	silent	SNP	1.000	T
SMAD4	4089	genome.wustl.edu	37	18	48593411	48593411	+	Nonsense_Mutation	SNP	C	C	T	rs80338964		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr18:48593411C>T	ENST00000342988.3	+	10	1700	c.1162C>T	c.(1162-1164)Cag>Tag	p.Q388*	SMAD4_ENST00000398417.2_Nonsense_Mutation_p.Q388*|SMAD4_ENST00000588745.1_Nonsense_Mutation_p.Q292*	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	388	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(2)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		CAAAGGTGTGCAGTTGGAATG	0.388																																																	38	Whole gene deletion(36)|Unknown(2)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|oesophagus(1)	GRCh37	CM004255	SMAD4	M	rs80338964						206.0	169.0	182.0					18																	48593411		2203	4300	6503	SO:0001587	stop_gained	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.1162C>T	18.37:g.48593411C>T	ENSP00000341551:p.Gln388*		A8K405	Nonsense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.Q388*	ENST00000342988.3	37	c.1162	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	C	43	10.108435	0.99338	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	18.5072	0.90901	0.0:1.0:0.0:0.0	.	.	.	.	X	388	.	ENSP00000341551:Q388X	Q	+	1	0	SMAD4	46847409	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.735000	0.84939	2.662000	0.90505	0.563000	0.77884	CAG	SMAD4	-	pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type		0.388	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	C	NM_005359		48593411	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SMARCAL1	50485	genome.wustl.edu	37	2	217279674	217279674	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:217279674G>A	ENST00000357276.4	+	3	577	c.247G>A	c.(247-249)Gac>Aac	p.D83N	AC098820.2_ENST00000457694.1_RNA|SMARCAL1_ENST00000358207.5_Missense_Mutation_p.D83N	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	83					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|DNA metabolic process (GO:0006259)|DNA strand renaturation (GO:0000733)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|replication fork processing (GO:0031297)	nucleus (GO:0005634)|site of double-strand break (GO:0035861)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		ATCTAATGCTGACCAAAGACC	0.483									Schimke Immuno-Osseous Dysplasia																																								0													67.0	70.0	69.0					2																	217279674		2203	4300	6503	SO:0001583	missense	50485	Familial Cancer Database	SIOD	AF210833	CCDS2403.1	2q35	2014-09-17			ENSG00000138375	ENSG00000138375			11102	protein-coding gene	gene with protein product	"""HepA-related protein"", ""ATP-driven annealing helicase"""	606622				10713074, 10857751, 18974355	Standard	NM_014140		Approved	HHARP, HARP	uc002vgd.4	Q9NZC9	OTTHUMG00000133055	ENST00000357276.4:c.247G>A	2.37:g.217279674G>A	ENSP00000349823:p.Asp83Asn		A6NEH0|Q53R00|Q96AY1|Q9NXQ5|Q9UFH3|Q9UI93	Missense_Mutation	SNP	pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D83N	ENST00000357276.4	37	c.247	CCDS2403.1	2	.	.	.	.	.	.	.	.	.	.	G	13.13	2.145446	0.37825	.	.	ENSG00000138375	ENST00000430374;ENST00000357276;ENST00000444508;ENST00000358207;ENST00000434435	T;T;T;T;T	0.26067	1.76;1.76;1.76;1.76;1.76	4.75	1.97	0.26223	.	0.820054	0.10944	N	0.616843	T	0.16428	0.0395	L	0.32530	0.975	0.09310	N	1	B	0.31125	0.309	B	0.22386	0.039	T	0.19224	-1.0312	10	0.54805	T	0.06	-4.8712	5.4503	0.16560	0.2517:0.1488:0.5995:0.0	.	83	Q9NZC9	SMAL1_HUMAN	N	83	ENSP00000405077:D83N;ENSP00000349823:D83N;ENSP00000398969:D83N;ENSP00000350940:D83N;ENSP00000402967:D83N	ENSP00000349823:D83N	D	+	1	0	SMARCAL1	216987919	0.344000	0.24827	0.322000	0.25334	0.638000	0.38207	1.192000	0.32150	0.236000	0.21180	0.563000	0.77884	GAC	SMARCAL1	-	NULL		0.483	SMARCAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMARCAL1	HGNC	protein_coding	OTTHUMT00000256671.2	G			217279674	+1	no_errors	ENST00000357276	ensembl	human	known	70_37	missense	SNP	0.011	A
SOCS4	122809	genome.wustl.edu	37	14	55510091	55510091	+	Missense_Mutation	SNP	G	G	A	rs368652531		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr14:55510091G>A	ENST00000395472.2	+	2	664	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	SOCS4_ENST00000555846.1_Missense_Mutation_p.R111Q|SOCS4_ENST00000339298.2_Missense_Mutation_p.R111Q	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	111					intracellular signal transduction (GO:0035556)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein ubiquitination (GO:0016567)|regulation of growth (GO:0040008)					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGTAGTAGTCGGCACTCTTCA	0.428																																																	0								G	GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	77.0	79.0	79.0		332,332	5.5	1.0	14		79	0,8598		0,0,4299	no	missense,missense	SOCS4	NM_080867.2,NM_199421.1	43,43	0,1,6501	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	111/441,111/441	55510091	1,13003	2203	4299	6502	SO:0001583	missense	122809			AF424815	CCDS9722.1	14q22.1	2013-02-14	2004-02-25	2004-02-27	ENSG00000180008	ENSG00000180008		"""Suppressors of cytokine signaling"", ""SH2 domain containing"""	19392	protein-coding gene	gene with protein product			"""suppressor of cytokine signaling 7"""	SOCS7		12076535, 10500304	Standard	NM_080867		Approved		uc001xbp.3	Q8WXH5	OTTHUMG00000140311	ENST00000395472.2:c.332G>A	14.37:g.55510091G>A	ENSP00000378855:p.Arg111Gln			Missense_Mutation	SNP	pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2	p.R111Q	ENST00000395472.2	37	c.332	CCDS9722.1	14	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425257	0.43020	2.27E-4	0.0	ENSG00000180008	ENST00000395472;ENST00000555846;ENST00000339298	T;T;T	0.30448	1.53;1.53;1.53	5.52	5.52	0.82312	.	0.180736	0.37906	N	0.001883	T	0.47248	0.1435	L	0.44542	1.39	0.44289	D	0.997157	D	0.76494	0.999	D	0.64144	0.922	T	0.16453	-1.0402	10	0.32370	T	0.25	-13.5262	19.4425	0.94827	0.0:0.0:1.0:0.0	.	111	Q8WXH5	SOCS4_HUMAN	Q	111	ENSP00000378855:R111Q;ENSP00000452522:R111Q;ENSP00000341327:R111Q	ENSP00000341327:R111Q	R	+	2	0	SOCS4	54579844	1.000000	0.71417	0.994000	0.49952	0.980000	0.70556	7.231000	0.78106	2.594000	0.87642	0.655000	0.94253	CGG	SOCS4	-	pfam_SOCS		0.428	SOCS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOCS4	HGNC	protein_coding	OTTHUMT00000276910.1	G			55510091	+1	no_errors	ENST00000339298	ensembl	human	known	70_37	missense	SNP	0.994	A
SPATA32	124783	genome.wustl.edu	37	17	43332973	43332973	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:43332973G>A	ENST00000331780.4	-	4	671	c.576C>T	c.(574-576)ctC>ctT	p.L192L	MAP3K14-AS1_ENST00000591263.1_RNA|SPATA32_ENST00000543122.1_Silent_p.L171L|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32	192					spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											TGGCCTCCCGGAGCGGGGATC	0.642																																																	0													80.0	69.0	73.0					17																	43332973		2203	4300	6503	SO:0001819	synonymous_variant	124783			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363	ENST00000331780.4:c.576C>T	17.37:g.43332973G>A			Q7Z4U1|Q8N6V6	Silent	SNP	NULL	p.L192	ENST00000331780.4	37	c.576	CCDS32669.1	17																																																																																			SPATA32	-	NULL		0.642	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA32	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43332973	-1	no_errors	ENST00000331780	ensembl	human	known	70_37	silent	SNP	0.000	A
SPHKAP	80309	genome.wustl.edu	37	2	228882421	228882421	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:228882421G>A	ENST00000392056.3	-	7	3195	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.T1050M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1050						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AGAGAACTCCGTTAGGTTCAT	0.542																																																	0													78.0	75.0	76.0					2																	228882421		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3149C>T	2.37:g.228882421G>A	ENSP00000375909:p.Thr1050Met		Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.T1050M	ENST00000392056.3	37	c.3149	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	12.27	1.886442	0.33348	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.15718	2.4;2.41	6.08	5.19	0.71726	.	0.299534	0.41605	D	0.000860	T	0.30166	0.0756	L	0.27053	0.805	0.09310	N	0.999999	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.78314	0.964;0.826;0.991	T	0.14117	-1.0484	10	0.87932	D	0	.	15.7626	0.78096	0.0:0.0:0.8626:0.1374	.	81;1050;1050	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1050	ENSP00000375909:T1050M;ENSP00000339886:T1050M	ENSP00000339886:T1050M	T	-	2	0	SPHKAP	228590665	1.000000	0.71417	0.003000	0.11579	0.077000	0.17291	7.181000	0.77682	1.549000	0.49425	0.655000	0.94253	ACG	SPHKAP	-	NULL		0.542	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228882421	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.101	A
SYTL4	94121	genome.wustl.edu	37	X	99931137	99931137	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:99931137G>A	ENST00000372989.1	-	19	2235	c.1904C>T	c.(1903-1905)tCg>tTg	p.S635L	SYTL4_ENST00000455616.1_Missense_Mutation_p.S635L|SYTL4_ENST00000263033.5_Missense_Mutation_p.S635L|RP11-524D16__A.3_ENST00000568809.1_RNA|SYTL4_ENST00000276141.6_Missense_Mutation_p.S635L|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.S637L	NM_080737.2	NP_542775.2	Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	635					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|multivesicular body sorting pathway (GO:0071985)|negative regulation of insulin secretion (GO:0046676)|positive regulation of exocytosis (GO:0045921)|positive regulation of protein secretion (GO:0050714)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endosome (GO:0005768)|extrinsic component of membrane (GO:0019898)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|synaptic vesicle (GO:0008021)	neurexin family protein binding (GO:0042043)|phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	TTCCCCAGTCGAGTCCATCCA	0.577													G|||	1	0.000264901	0.0	0.0	3775	,	,		12358	0.001		0.0	False		,,,				2504	0.0																0													126.0	95.0	105.0					X																	99931137		2203	4300	6503	SO:0001583	missense	94121				CCDS14472.1	Xq21.33	2008-07-31	2008-07-31		ENSG00000102362	ENSG00000102362			15588	protein-coding gene	gene with protein product	"""granuphilin-a"", ""exophilin-2"""	300723					Standard	NM_080737		Approved		uc010nnc.3	Q96C24	OTTHUMG00000022004	ENST00000372989.1:c.1904C>T	X.37:g.99931137G>A	ENSP00000362080:p.Ser635Leu		Q5H9J3|Q5JPG8|Q8N9P4|Q9H4R0|Q9H4R1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,prints_Synaptotagmin	p.S637L	ENST00000372989.1	37	c.1910	CCDS14472.1	X	.	.	.	.	.	.	.	.	.	.	G	34	5.366539	0.95900	.	.	ENSG00000102362	ENST00000372989;ENST00000455616;ENST00000454200;ENST00000276141;ENST00000263033	T;T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57;-0.57	5.77	5.77	0.91146	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.86385	0.5920	M	0.84511	2.7	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.87208	0.2245	9	.	.	.	-8.1968	19.0061	0.92851	0.0:0.0:1.0:0.0	.	635	Q96C24	SYTL4_HUMAN	L	635;635;637;635;635	ENSP00000362080:S635L;ENSP00000390252:S635L;ENSP00000403556:S637L;ENSP00000276141:S635L;ENSP00000263033:S635L	.	S	-	2	0	SYTL4	99817793	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.437000	0.82529	0.538000	0.68166	TCG	SYTL4	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.577	SYTL4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL4	HGNC	protein_coding	OTTHUMT00000057488.1	G	NM_080737		99931137	-1	no_errors	ENST00000454200	ensembl	human	known	70_37	missense	SNP	1.000	A
SSR4	6748	genome.wustl.edu	37	X	153061914	153061914	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:153061914C>T	ENST00000320857.3	+	3	1177	c.93C>T	c.(91-93)atC>atT	p.I31I	IDH3G_ENST00000370093.1_5'Flank|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000427365.2_5'Flank|SSR4_ENST00000370087.1_Silent_p.I31I|SSR4_ENST00000370085.3_Silent_p.I31I|IDH3G_ENST00000370092.3_5'Flank|SSR4_ENST00000460616.1_3'UTR|SSR4_ENST00000370086.3_Silent_p.I31I|IDH3G_ENST00000217901.5_5'Flank	NM_001204526.1	NP_001191455.1	P51571	SSRD_HUMAN	signal sequence receptor, delta	31					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|Sec61 translocon complex (GO:0005784)				central_nervous_system(1)|endometrium(1)|lung(2)	4	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCAGATCACCCCTTCCT	0.607																																																	0													142.0	101.0	115.0					X																	153061914		2203	4300	6503	SO:0001819	synonymous_variant	6748			BC032351	CCDS14731.1	Xq28	2011-08-31	2011-08-31		ENSG00000180879	ENSG00000180879			11326	protein-coding gene	gene with protein product	"""translocon-associated protein delta"""	300090				9286695	Standard	NM_001204526		Approved	TRAPD	uc022chw.1	P51571	OTTHUMG00000024212	ENST00000320857.3:c.93C>T	X.37:g.153061914C>T			A8K378|Q53XY1	Silent	SNP	pfam_TRAP-delta	p.I31	ENST00000320857.3	37	c.93	CCDS14731.1	X																																																																																			SSR4	-	pfam_TRAP-delta		0.607	SSR4-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SSR4	HGNC	protein_coding	OTTHUMT00000061029.1	C	NM_006280		153061914	+1	no_errors	ENST00000320857	ensembl	human	known	70_37	silent	SNP	1.000	T
TARBP1	6894	genome.wustl.edu	37	1	234565269	234565269	+	Missense_Mutation	SNP	C	C	G	rs563481719		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:234565269C>G	ENST00000040877.1	-	16	2763	c.2764G>C	c.(2764-2766)Gtt>Ctt	p.V922L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	922					regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA processing (GO:0006396)	nucleus (GO:0005634)	RNA binding (GO:0003723)|RNA methyltransferase activity (GO:0008173)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGCATCTGAACGGCAGGTAGA	0.428																																																	0													99.0	101.0	100.0					1																	234565269		2203	4300	6503	SO:0001583	missense	6894				CCDS1601.1	1q42.2	2012-06-12	2007-06-26		ENSG00000059588	ENSG00000059588			11568	protein-coding gene	gene with protein product	"""tRNA methyltransferase 3 homolog (S. cerevisiae)"""	605052	"""Tar (HIV-1) RNA binding protein 1"""			1936997	Standard	NM_005646		Approved	TRP-185, TRM3	uc001hwd.3	Q13395	OTTHUMG00000037947	ENST00000040877.1:c.2764G>C	1.37:g.234565269C>G	ENSP00000040877:p.Val922Leu		Q9H581	Missense_Mutation	SNP	pfam_SpoU_MeTrfase,superfamily_ARM-type_fold	p.V922L	ENST00000040877.1	37	c.2764	CCDS1601.1	1	.	.	.	.	.	.	.	.	.	.	C	7.881	0.730186	0.15507	.	.	ENSG00000059588	ENST00000040877	T	0.05199	3.48	5.58	1.55	0.23275	.	0.834930	0.10553	N	0.661256	T	0.05731	0.0150	L	0.51422	1.61	0.09310	N	1	B	0.15930	0.015	B	0.10450	0.005	T	0.47341	-0.9125	10	0.18276	T	0.48	-14.2886	2.7532	0.05286	0.1285:0.5432:0.1243:0.204	.	922	Q13395	TARB1_HUMAN	L	922	ENSP00000040877:V922L	ENSP00000040877:V922L	V	-	1	0	TARBP1	232631892	0.000000	0.05858	0.002000	0.10522	0.021000	0.10359	-0.863000	0.04259	0.098000	0.17522	0.655000	0.94253	GTT	TARBP1	-	NULL		0.428	TARBP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	TARBP1	HGNC	protein_coding	OTTHUMT00000092616.1	C	NM_005646		234565269	-1	no_errors	ENST00000040877	ensembl	human	known	70_37	missense	SNP	0.000	G
THSD7B	80731	genome.wustl.edu	37	2	138414450	138414450	+	Missense_Mutation	SNP	G	G	A	rs565075278		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:138414450G>A	ENST00000409968.1	+	23	4368	c.4190G>A	c.(4189-4191)cGc>cAc	p.R1397H	THSD7B_ENST00000272643.3_Missense_Mutation_p.R1400H|THSD7B_ENST00000413152.2_Missense_Mutation_p.R1369H|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	1399	TSP type-1 18. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ACTGTGGGCCGCCAGTCTAGA	0.473													G|||	1	0.000199681	0.0	0.0	5008	,	,		18162	0.0		0.0	False		,,,				2504	0.001																0													76.0	78.0	77.0					2																	138414450		1901	4110	6011	SO:0001583	missense	80731					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.4190G>A	2.37:g.138414450G>A	ENSP00000387145:p.Arg1397His			Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.R1400H	ENST00000409968.1	37	c.4199		2	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127326	0.37533	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.52295	0.67;0.67;0.67	6.17	3.42	0.39159	.	0.148840	0.64402	N	0.000006	T	0.29028	0.0721	L	0.31294	0.92	0.80722	D	1	P	0.46142	0.873	B	0.36464	0.225	T	0.04191	-1.0970	10	0.14656	T	0.56	.	10.8535	0.46784	0.1999:0.0:0.8001:0.0	.	1369	C9JKN6	.	H	1397;1400;1369	ENSP00000387145:R1397H;ENSP00000272643:R1400H;ENSP00000413841:R1369H	ENSP00000272643:R1400H	R	+	2	0	THSD7B	138130920	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	3.203000	0.51075	0.938000	0.37419	0.655000	0.94253	CGC	THSD7B	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.473	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	G	XM_046570.9		138414450	+1	no_errors	ENST00000272643	ensembl	human	known	70_37	missense	SNP	1.000	A
TM4SF5	9032	genome.wustl.edu	37	17	4686189	4686189	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:4686189G>C	ENST00000270560.3	+	4	467	c.436G>C	c.(436-438)Gag>Cag	p.E146Q		NM_003963.2	NP_003954.2	O14894	T4S5_HUMAN	transmembrane 4 L six family member 5	146						integral component of plasma membrane (GO:0005887)				large_intestine(2)|lung(3)|ovary(1)	6						GGATCGGTGCGAGGCGCCCCC	0.667																																																	0													58.0	58.0	58.0					17																	4686189		2203	4300	6503	SO:0001583	missense	9032			AF027204	CCDS11054.1	17p13.3	2007-01-06	2005-03-21		ENSG00000142484	ENSG00000142484			11857	protein-coding gene	gene with protein product		604657	"""transmembrane 4 superfamily member 5"""			9479038	Standard	NM_003963		Approved		uc002fyw.1	O14894	OTTHUMG00000090776	ENST00000270560.3:c.436G>C	17.37:g.4686189G>C	ENSP00000270560:p.Glu146Gln		Q17RW9|Q6IB79	Missense_Mutation	SNP	pfam_L6_membrane	p.E146Q	ENST00000270560.3	37	c.436	CCDS11054.1	17	.	.	.	.	.	.	.	.	.	.	G	7.672	0.687229	0.14973	.	.	ENSG00000142484	ENST00000270560	T	0.32272	1.46	5.71	-7.38	0.01407	.	1.403430	0.03826	N	0.268292	T	0.14313	0.0346	N	0.20881	0.62	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.18681	-1.0329	10	0.11485	T	0.65	-4.0388	3.7856	0.08698	0.2628:0.3771:0.2733:0.0868	.	146	O14894	T4S5_HUMAN	Q	146	ENSP00000270560:E146Q	ENSP00000270560:E146Q	E	+	1	0	TM4SF5	4632936	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.841000	0.04359	-0.783000	0.04534	-0.740000	0.03531	GAG	TM4SF5	-	pfam_L6_membrane		0.667	TM4SF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TM4SF5	HGNC	protein_coding	OTTHUMT00000207558.2	G			4686189	+1	no_errors	ENST00000270560	ensembl	human	known	70_37	missense	SNP	0.000	C
TMCO4	255104	genome.wustl.edu	37	1	20009173	20009173	+	3'UTR	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:20009173C>T	ENST00000294543.6	-	0	2506				TMCO4_ENST00000375122.2_3'UTR|TMCO4_ENST00000489814.1_5'UTR|TMCO4_ENST00000375127.1_Silent_p.E564E	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4							integral component of membrane (GO:0016021)				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCAGAGAGCCCTCGGGACCTC	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	255104				CCDS198.1	1p36.13	2008-02-05			ENSG00000162542	ENSG00000162542			27393	protein-coding gene	gene with protein product							Standard	NM_181719		Approved	DKFZp686C23231	uc001bcn.3	Q5TGY1	OTTHUMG00000002697	ENST00000294543.6:c.*360G>A	1.37:g.20009173C>T			Q5TGY2|Q6MZN5|Q7Z6K6|Q9UQP4|Q9Y3K1	Silent	SNP	pfam_DUF726,pfam_DUF900_hydrolase	p.E564	ENST00000294543.6	37	c.1692	CCDS198.1	1																																																																																			TMCO4	-	NULL		0.577	TMCO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO4	HGNC	protein_coding	OTTHUMT00000007658.1	C	NM_181719		20009173	-1	no_errors	ENST00000375127	ensembl	human	known	70_37	silent	SNP	0.000	T
TREX2	11219	genome.wustl.edu	37	X	152710753	152710753	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chrX:152710753C>T	ENST00000334497.2	-	11	1406	c.265G>A	c.(265-267)Gac>Aac	p.D89N	HAUS7_ENST00000484394.1_5'Flank|TREX2_ENST00000402951.1_Missense_Mutation_p.D89N|TREX2_ENST00000414588.1_Missense_Mutation_p.D88N|TREX2_ENST00000330912.2_Missense_Mutation_p.D46N|TREX2_ENST00000370232.1_Missense_Mutation_p.D89N|TREX2_ENST00000370231.2_Missense_Mutation_p.D46N|TREX2_ENST00000338525.2_Missense_Mutation_p.D46N|TREX2_ENST00000393862.2_Missense_Mutation_p.D46N			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	89					DNA catabolic process, exonucleolytic (GO:0000738)|DNA metabolic process (GO:0006259)|DNA repair (GO:0006281)	nucleus (GO:0005634)	3'-5'-exodeoxyribonuclease activity (GO:0008296)|exodeoxyribonuclease III activity (GO:0008853)|magnesium ion binding (GO:0000287)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGACTCGTCGTGCTCCGGG	0.657								Editing and processing nucleases					C|||	1	0.000264901	0.0008	0.0	3775	,	,		11613	0.0		0.0	False		,,,				2504	0.0																0													39.0	41.0	41.0					X																	152710753		2203	4299	6502	SO:0001583	missense	11219			AF151107	CCDS35437.1	Xq28	2012-05-08			ENSG00000183479	ENSG00000183479			12270	protein-coding gene	gene with protein product		300370				10391904	Standard	NM_080701		Approved		uc011myp.2	Q9BQ50	OTTHUMG00000159319	ENST00000334497.2:c.265G>A	X.37:g.152710753C>T	ENSP00000334993:p.Asp89Asn		Q45F08|Q9UN77	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.D89N	ENST00000334497.2	37	c.265		X	.	.	.	.	.	.	.	.	.	.	C	3.215	-0.160732	0.06502	.	.	ENSG00000183479	ENST00000393862;ENST00000330912;ENST00000338525;ENST00000334497;ENST00000370232;ENST00000402951;ENST00000414588;ENST00000370231	T;T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.04	4.18	0.49190	Exonuclease (1);Exonuclease, RNase T/DNA polymerase III (1);Ribonuclease H-like (1);	0.000000	0.49305	U	0.000159	T	0.21962	0.0529	N	0.12746	0.255	0.09310	N	1	B;B	0.27380	0.038;0.177	B;B	0.15870	0.007;0.014	T	0.12243	-1.0555	10	0.24483	T	0.36	-7.3428	10.2962	0.43625	0.0:0.9006:0.0:0.0994	.	88;89	Q06S70;Q9BQ50	.;TREX2_HUMAN	N	46;46;46;89;89;89;88;46	ENSP00000377442:D46N;ENSP00000333441:D46N;ENSP00000345218:D46N;ENSP00000334993:D89N;ENSP00000359252:D89N;ENSP00000386078:D89N;ENSP00000401692:D88N;ENSP00000359251:D46N	ENSP00000333441:D46N	D	-	1	0	TREX2	152363947	0.001000	0.12720	0.002000	0.10522	0.001000	0.01503	0.451000	0.21779	0.915000	0.36847	0.529000	0.55759	GAC	TREX2	-	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease		0.657	TREX2-001	KNOWN	alternative_5_UTR|basic	protein_coding	TREX2	HGNC	protein_coding	OTTHUMT00000060966.1	C	NM_080701		152710753	-1	no_errors	ENST00000334497	ensembl	human	known	70_37	missense	SNP	0.008	T
TRIM46	80128	genome.wustl.edu	37	1	155148617	155148617	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr1:155148617C>T	ENST00000334634.4	+	3	579	c.579C>T	c.(577-579)ttC>ttT	p.F193F	KRTCAP2_ENST00000295682.4_5'Flank|TRIM46_ENST00000543729.1_Silent_p.F200F|TRIM46_ENST00000545012.1_Silent_p.F67F|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000368383.3_Silent_p.F193F|TRIM46_ENST00000392451.2_Silent_p.F193F|KRTCAP2_ENST00000490672.1_5'Flank|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368385.4_Silent_p.F193F|TRIM46_ENST00000368382.1_Silent_p.F170F	NM_001256601.1|NM_001282378.1	NP_001243530.1|NP_001269307.1	Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	193						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCGCCACCTTCTGCAATGAGT	0.637																																																	0													75.0	71.0	72.0					1																	155148617		2203	4300	6503	SO:0001819	synonymous_variant	80128				CCDS1097.1, CCDS58033.1, CCDS60285.1, CCDS72932.1, CCDS72931.1	1q22	2013-01-09	2011-01-25		ENSG00000163462	ENSG00000163462		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19019	protein-coding gene	gene with protein product		600986	"""tripartite motif-containing 46"""				Standard	NM_025058		Approved	FLJ23229, TRIFIC	uc001fhs.2	Q7Z4K8	OTTHUMG00000035680	ENST00000334634.4:c.579C>T	1.37:g.155148617C>T			A0AVI6|B1AVQ4|Q5VT60|Q5VT62|Q6NT17|Q6NT41|Q6ZRL7|Q9H5P2	Silent	SNP	pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.F193	ENST00000334634.4	37	c.579	CCDS1097.1	1																																																																																			TRIM46	-	NULL		0.637	TRIM46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM46	HGNC	protein_coding	OTTHUMT00000086728.1	C	NM_025058		155148617	+1	no_errors	ENST00000334634	ensembl	human	known	70_37	silent	SNP	1.000	T
TUBGCP5	114791	genome.wustl.edu	37	15	22867488	22867488	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr15:22867488T>G	ENST00000283645.4	+	19	2694	c.2564T>G	c.(2563-2565)cTt>cGt	p.L855R	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.L855R	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	855					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AAACCACGACTTAAAGAAGGC	0.433																																																	0													142.0	125.0	131.0					15																	22867488		2203	4300	6503	SO:0001583	missense	114791			AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2564T>G	15.37:g.22867488T>G	ENSP00000283645:p.Leu855Arg		E9PB12|Q6IQ52|Q96PY8	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.L855R	ENST00000283645.4	37	c.2564	CCDS10008.1	15	.	.	.	.	.	.	.	.	.	.	T	5.054	0.195714	0.09599	.	.	ENSG00000153575	ENST00000283645;ENST00000453949	T;T	0.27720	1.65;1.65	4.85	-5.37	0.02681	.	1.784700	0.02427	N	0.083160	T	0.17195	0.0413	L	0.27053	0.805	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.12372	-1.0550	10	0.15066	T	0.55	0.4691	4.4844	0.11783	0.1013:0.4378:0.2065:0.2544	.	855;855	Q96RT8;E9PB12	GCP5_HUMAN;.	R	855	ENSP00000283645:L855R;ENSP00000409217:L855R	ENSP00000283645:L855R	L	+	2	0	TUBGCP5	20418929	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.871000	0.01640	-0.905000	0.03871	-0.993000	0.02533	CTT	TUBGCP5	-	pfam_Spc97_Spc98		0.433	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP5	HGNC	protein_coding	OTTHUMT00000250998.2	T	NM_052903		22867488	+1	no_errors	ENST00000283645	ensembl	human	known	70_37	missense	SNP	0.000	G
UBE2E1	7324	genome.wustl.edu	37	3	23852950	23852950	+	Splice_Site	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr3:23852950G>A	ENST00000306627.3	+	3	371		c.e3-1		UBE2E1_ENST00000475680.1_Splice_Site|UBE2E1_ENST00000346855.3_Intron|UBE2E1_ENST00000424381.1_Splice_Site|UBE2E1_ENST00000467766.1_Splice_Site	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cytokine-mediated signaling pathway (GO:0019221)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|ISG15-protein conjugation (GO:0032020)|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 K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ATP binding (GO:0005524)|ISG15 ligase activity (GO:0042296)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(2)|large_intestine(4)	7						TCCCACTCCAGAATTCAGAAG	0.458																																																	0													135.0	130.0	132.0					3																	23852950		2203	4300	6503	SO:0001630	splice_region_variant	7324			X92963	CCDS2638.1, CCDS2639.1, CCDS56244.1	3p24.2	2011-05-19	2011-05-19		ENSG00000170142	ENSG00000170142		"""Ubiquitin-conjugating enzymes E2"""	12477	protein-coding gene	gene with protein product		602916	"""ubiquitin-conjugating enzyme E2E 1 (homologous to yeast UBC4/5)"", ""ubiquitin-conjugating enzyme E2E 1 (UBC4/5 homolog, yeast)"""			8576257	Standard	NM_003341		Approved	UbcH6	uc003cch.3	P51965	OTTHUMG00000130483	ENST00000306627.3:c.153-1G>A	3.37:g.23852950G>A			B2RBX4|C9J8K2|K4DI90	Splice_Site	SNP	-	e2-1	ENST00000306627.3	37	c.153-1	CCDS2638.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.77|17.77	3.472154|3.472154	0.63737|0.63737	.|.	.|.	ENSG00000170142|ENSG00000170142	ENST00000306627;ENST00000442670;ENST00000424381|ENST00000452012	.|T	.|0.67523	.|-0.27	4.81|4.81	4.81|4.81	0.61882|0.61882	.|.	.|.	.|.	.|.	.|.	.|T	.|0.80696	.|0.4672	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|D	.|0.84036	.|0.0362	.|6	.|0.87932	.|D	.|0	.|.	17.8904|17.8904	0.88870|0.88870	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	.|K	-1|1	.|ENSP00000393088:R1K	.|ENSP00000393088:R1K	.|R	+|+	.|2	.|0	UBE2E1|UBE2E1	23827954|23827954	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.726000|0.726000	0.41606|0.41606	9.128000|9.128000	0.94424|0.94424	2.215000|2.215000	0.71742|0.71742	0.462000|0.462000	0.41574|0.41574	.|AGA	UBE2E1	-	-		0.458	UBE2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2E1	HGNC	protein_coding	OTTHUMT00000252882.2	G	NM_003341	Intron	23852950	+1	no_errors	ENST00000306627	ensembl	human	known	70_37	splice_site	SNP	1.000	A
UGT2B15	7366	genome.wustl.edu	37	4	69519864	69519864	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr4:69519864C>T	ENST00000338206.5	-	5	1213	c.1204G>A	c.(1204-1206)Gat>Aat	p.D402N		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	402					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	GCAATGTTATCATGTTGATCC	0.453																																																	0													158.0	154.0	155.0					4																	69519864		2203	4293	6496	SO:0001583	missense	7366			AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.1204G>A	4.37:g.69519864C>T	ENSP00000341045:p.Asp402Asn		A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.D402N	ENST00000338206.5	37	c.1204	CCDS3524.1	4	.	.	.	.	.	.	.	.	.	.	c	13.84	2.356051	0.41700	.	.	ENSG00000196620	ENST00000338206	T	0.63913	-0.07	2.57	2.57	0.30868	.	0.068286	0.56097	U	0.000036	T	0.79616	0.4476	M	0.90483	3.12	0.33756	D	0.621268	D	0.65815	0.995	D	0.69479	0.964	D	0.86547	0.1832	10	0.87932	D	0	.	10.831	0.46661	0.0:1.0:0.0:0.0	.	402	P54855	UDB15_HUMAN	N	402	ENSP00000341045:D402N	ENSP00000341045:D402N	D	-	1	0	UGT2B15	69202459	0.999000	0.42202	0.069000	0.20011	0.013000	0.08279	4.190000	0.58365	1.421000	0.47157	0.455000	0.32223	GAT	UGT2B15	-	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C		0.453	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B15	HGNC	protein_coding	OTTHUMT00000365172.1	C	NM_001076		69519864	-1	no_errors	ENST00000338206	ensembl	human	known	70_37	missense	SNP	1.000	T
USP43	124739	genome.wustl.edu	37	17	9632113	9632113	+	Missense_Mutation	SNP	G	G	A	rs371675908		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr17:9632113G>A	ENST00000285199.7	+	15	3274	c.3178G>A	c.(3178-3180)Gag>Aag	p.E1060K	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.E1055K	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	1060					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CAGCCGGCTCGAGAGGGATGT	0.687																																																	0								G	LYS/GLU	0,3778		0,0,1889	17.0	20.0	19.0		3178	4.1	1.0	17		19	3,8225		0,3,4111	no	missense	USP43	NM_153210.3	56	0,3,6000	AA,AG,GG		0.0365,0.0,0.025	possibly-damaging	1060/1124	9632113	3,12003	1889	4114	6003	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.3178G>A	17.37:g.9632113G>A	ENSP00000285199:p.Glu1060Lys		A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.E1060K	ENST00000285199.7	37	c.3178	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	G	15.20	2.763809	0.49574	0.0	3.65E-4	ENSG00000154914	ENST00000285199	T	0.10763	2.84	5.09	4.11	0.48088	.	10.193600	0.00166	N	0.000002	T	0.30541	0.0768	L	0.57536	1.79	0.21105	N	0.999786	D;D;D;D	0.76494	0.996;0.998;0.992;0.999	P;P;P;P	0.61201	0.565;0.748;0.484;0.885	T	0.11372	-1.0590	10	0.41790	T	0.15	-19.1762	11.3959	0.49841	0.0:0.182:0.818:0.0	.	1055;749;1060;572	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	K	1060	ENSP00000285199:E1060K	ENSP00000285199:E1060K	E	+	1	0	USP43	9572838	0.979000	0.34478	0.971000	0.41717	0.245000	0.25701	1.892000	0.39748	1.347000	0.45714	0.655000	0.94253	GAG	USP43	-	NULL		0.687	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	G	NM_153210		9632113	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	0.440	A
VLDLR	7436	genome.wustl.edu	37	9	2643293	2643293	+	Silent	SNP	C	C	T	rs148012674		TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:2643293C>T	ENST00000382100.3	+	5	938	c.582C>T	c.(580-582)ggC>ggT	p.G194G	VLDLR_ENST00000382099.2_Silent_p.G194G|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	194	LDL-receptor class A 5. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CAACCTGTGGCGCCCATGAGT	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		20175	0.0		0.001	False		,,,				2504	0.0																0								C	,	1,4405	2.1+/-5.4	0,1,2202	87.0	75.0	79.0		582,582	-7.8	0.0	9	dbSNP_134	79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VLDLR	NM_001018056.1,NM_003383.3	,	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	,	194/846,194/874	2643293	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.582C>T	9.37:g.2643293C>T			B2RMZ7|D3DRH6|Q5VVF6	Silent	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.G194	ENST00000382100.3	37	c.582	CCDS6446.1	9																																																																																			VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.597	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	C	NM_003383		2643293	+1	no_errors	ENST00000382100	ensembl	human	known	70_37	silent	SNP	0.000	T
WASF3	10810	genome.wustl.edu	37	13	27250824	27250824	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr13:27250824G>A	ENST00000335327.5	+	7	857	c.679G>A	c.(679-681)Gga>Aga	p.G227R	WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	227					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGTGTACCATGGAGCGTCTTC	0.512																																																	0													174.0	163.0	166.0					13																	27250824		2203	4300	6503	SO:0001583	missense	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.679G>A	13.37:g.27250824G>A	ENSP00000335055:p.Gly227Arg		O94974|Q86VQ2	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.G227R	ENST00000335327.5	37	c.679	CCDS9318.1	13	.	.	.	.	.	.	.	.	.	.	G	26.0	4.697577	0.88830	.	.	ENSG00000132970	ENST00000335327	T	0.47528	0.84	5.77	5.77	0.91146	.	0.145914	0.64402	D	0.000007	T	0.62245	0.2412	M	0.75264	2.295	0.80722	D	1	P	0.48834	0.916	P	0.50537	0.643	T	0.62789	-0.6780	10	0.48119	T	0.1	-22.5296	19.9634	0.97258	0.0:0.0:1.0:0.0	.	227	Q9UPY6	WASF3_HUMAN	R	227	ENSP00000335055:G227R	ENSP00000335055:G227R	G	+	1	0	WASF3	26148824	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.363000	0.97131	2.726000	0.93360	0.591000	0.81541	GGA	WASF3	-	NULL		0.512	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF3	HGNC	protein_coding	OTTHUMT00000044258.1	G			27250824	+1	no_errors	ENST00000335327	ensembl	human	known	70_37	missense	SNP	1.000	A
WNK1	65125	genome.wustl.edu	37	12	970314	970314	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr12:970314G>A	ENST00000315939.6	+	7	2399	c.1756G>A	c.(1756-1758)Gag>Aag	p.E586K	WNK1_ENST00000537687.1_Missense_Mutation_p.E586K|WNK1_ENST00000535572.1_Missense_Mutation_p.E586K|WNK1_ENST00000530271.2_Missense_Mutation_p.E586K|WNK1_ENST00000340908.4_Missense_Mutation_p.E179K	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	586					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AAAGCAGGAAGAGAGCAGTCT	0.478																																					Colon(19;451 567 6672 12618 28860)												0													104.0	97.0	99.0					12																	970314		2203	4300	6503	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.1756G>A	12.37:g.970314G>A	ENSP00000313059:p.Glu586Lys		A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E586K	ENST00000315939.6	37	c.1756	CCDS8506.1	12	.	.	.	.	.	.	.	.	.	.	G	19.25	3.791480	0.70452	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000340908	T;T;T;T;T	0.15834	2.39;2.39;2.39;2.39;2.39	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000003	T	0.38904	0.1058	M	0.71581	2.175	0.33124	D	0.542195	P;P;P	0.51653	0.947;0.947;0.913	P;P;P	0.58077	0.832;0.832;0.684	T	0.37314	-0.9711	10	0.33141	T	0.24	-13.7709	19.774	0.96385	0.0:0.0:1.0:0.0	.	586;586;586	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	K	586;586;586;33;586;179	ENSP00000441972:E586K;ENSP00000313059:E586K;ENSP00000444465:E586K;ENSP00000433548:E586K;ENSP00000341292:E179K	ENSP00000252477:E33K	E	+	1	0	WNK1	840575	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.213000	0.77950	2.679000	0.91253	0.591000	0.81541	GAG	WNK1	-	NULL		0.478	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK1	HGNC	protein_coding	OTTHUMT00000206683.1	G	NM_018979		970314	+1	no_errors	ENST00000530271	ensembl	human	known	70_37	missense	SNP	1.000	A
ZEB2	9839	genome.wustl.edu	37	2	145157705	145157705	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr2:145157705G>T	ENST00000558170.2	-	8	2233	c.1049C>A	c.(1048-1050)aCg>aAg	p.T350K	ZEB2_ENST00000539609.3_Missense_Mutation_p.T326K|ZEB2_ENST00000409487.3_Missense_Mutation_p.T350K|ZEB2_ENST00000303660.4_Missense_Mutation_p.T350K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	350					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)	p.T350M(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGAAGAACCCGTCTTGATATT	0.393																																					Melanoma(33;1235 1264 5755 16332)												1	Substitution - Missense(1)	endometrium(1)											65.0	65.0	65.0					2																	145157705		2203	4300	6503	SO:0001583	missense	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.1049C>A	2.37:g.145157705G>T	ENSP00000454157:p.Thr350Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.T350K	ENST00000558170.2	37	c.1049	CCDS2186.1	2	.	.	.	.	.	.	.	.	.	.	G	17.68	3.448535	0.63178	.	.	ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861	T;T;T;T;T	0.14391	2.52;2.51;2.51;2.62;2.62	5.64	5.64	0.86602	.	0.094045	0.64402	D	0.000001	T	0.20659	0.0497	N	0.11064	0.09	0.80722	D	1	P;D;P;D	0.63046	0.767;0.961;0.798;0.992	P;P;B;P	0.62491	0.544;0.67;0.319;0.903	T	0.17410	-1.0370	10	0.87932	D	0	-8.6853	19.7156	0.96119	0.0:0.0:1.0:0.0	.	326;215;349;350	F5H814;Q53TD9;A0JP08;O60315	.;.;.;ZEB2_HUMAN	K	345;326;350;350;350;350	ENSP00000443792:T326K;ENSP00000302501:T350K;ENSP00000386854:T350K;ENSP00000395496:T350K;ENSP00000376601:T350K	ENSP00000302501:T350K	T	-	2	0	ZEB2	144874175	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.658000	0.90341	0.655000	0.94253	ACG	ZEB2	-	NULL		0.393	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	G	NM_014795		145157705	-1	no_errors	ENST00000303660	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF112	7771	genome.wustl.edu	37	19	44832470	44832470	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:44832470G>A	ENST00000337401.4	-	5	1946	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	ZNF112_ENST00000354340.4_Missense_Mutation_p.R614W|ZNF112_ENST00000536500.1_Missense_Mutation_p.R637W	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	620					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.R614W(1)									TGTGAACTCCGACTGAAGCCC	0.473																																																	1	Substitution - Missense(1)	large_intestine(1)											141.0	137.0	138.0					19																	44832470		2203	4300	6503	SO:0001583	missense	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.1858C>T	19.37:g.44832470G>A	ENSP00000337081:p.Arg620Trp		A4FU53|Q9HCA7	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.R637W	ENST00000337401.4	37	c.1909	CCDS54276.1	19	.	.	.	.	.	.	.	.	.	.	G	17.22	3.335464	0.60853	.	.	ENSG00000062370	ENST00000337401;ENST00000412927;ENST00000354340;ENST00000536500;ENST00000253426	T;T;T	0.08008	3.14;5.4;3.14	5.0	3.95	0.45737	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.31370	N	0.007774	T	0.23886	0.0578	M	0.68593	2.085	0.30726	N	0.747708	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.988;0.993	T	0.05053	-1.0909	10	0.36615	T	0.2	-19.8544	11.9024	0.52690	0.0:0.0:0.6836:0.3164	.	619;637;620	B4DYT4;F5GWS7;Q9UJU3	.;.;ZF112_HUMAN	W	620;620;614;637;619	ENSP00000337081:R620W;ENSP00000346305:R614W;ENSP00000441990:R637W	ENSP00000253426:R619W	R	-	1	2	ZNF285	49524310	0.000000	0.05858	1.000000	0.80357	0.996000	0.88848	-0.202000	0.09451	1.217000	0.43442	-0.182000	0.12963	CGG	ZFP112	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.473	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFP112	HGNC	protein_coding	OTTHUMT00000460744.1	G	NM_013380		44832470	-1	no_errors	ENST00000536500	ensembl	human	known	70_37	missense	SNP	0.999	A
ZMIZ1	57178	genome.wustl.edu	37	10	81070929	81070929	+	Silent	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr10:81070929G>A	ENST00000334512.5	+	24	3656	c.3084G>A	c.(3082-3084)gaG>gaA	p.E1028E	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	1028					artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ACATGCCGGAGCCTTCGCTGG	0.677																																																	0													60.0	65.0	63.0					10																	81070929		2203	4300	6503	SO:0001819	synonymous_variant	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.3084G>A	10.37:g.81070929G>A			Q5JSH9|Q7Z7E6	Silent	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.E1028	ENST00000334512.5	37	c.3084	CCDS7357.1	10																																																																																			ZMIZ1	-	NULL		0.677	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	G	NM_020338		81070929	+1	no_errors	ENST00000334512	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF236	7776	genome.wustl.edu	37	18	74637258	74637258	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr18:74637258G>A	ENST00000253159.8	+	22	3967	c.3769G>A	c.(3769-3771)Gag>Aag	p.E1257K	ZNF236_ENST00000320610.9_Missense_Mutation_p.E1259K	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1257					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCCGCATTGCGAGCTGCGTTT	0.537																																																	0													55.0	58.0	57.0					18																	74637258		2026	4185	6211	SO:0001583	missense	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.3769G>A	18.37:g.74637258G>A	ENSP00000253159:p.Glu1257Lys		B2RTX9|Q9UL37	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1257K	ENST00000253159.8	37	c.3769	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009506	0.93346	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.60548	0.18;0.18	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.154131	0.48767	D	0.000173	T	0.43545	0.1252	N	0.17248	0.465	0.44908	D	0.997922	P	0.46142	0.873	B	0.38880	0.284	T	0.44251	-0.9340	10	0.37606	T	0.19	.	18.8734	0.92325	0.0:0.0:1.0:0.0	.	1257	Q9UL36	ZN236_HUMAN	K	1257	ENSP00000253159:E1257K;ENSP00000444524:E1257K	ENSP00000253159:E1257K	E	+	1	0	ZNF236	72766246	1.000000	0.71417	0.996000	0.52242	0.832000	0.47134	9.451000	0.97610	2.450000	0.82876	0.650000	0.86243	GAG	ZNF236	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.537	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74637258	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF462	58499	genome.wustl.edu	37	9	109691647	109691647	+	Silent	SNP	C	C	T			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr9:109691647C>T	ENST00000277225.5	+	3	5743	c.5454C>T	c.(5452-5454)ccC>ccT	p.P1818P	ZNF462_ENST00000441147.2_Silent_p.P663P|ZNF462_ENST00000457913.1_Silent_p.P1818P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1818					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATGAGAAGCCCACACTGATGG	0.542																																																	0													88.0	85.0	86.0					9																	109691647		2203	4300	6503	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5454C>T	9.37:g.109691647C>T			Q5T0T4|Q8N408	Silent	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1818	ENST00000277225.5	37	c.5454	CCDS35096.1	9																																																																																			ZNF462	-	NULL		0.542	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	C	NM_021224		109691647	+1	no_errors	ENST00000457913	ensembl	human	known	70_37	silent	SNP	0.014	T
ZNF791	163049	genome.wustl.edu	37	19	12739121	12739121	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HT-01A-61D-A21Q-09	TCGA-EA-A3HT-10A-01D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	8d78b37c-09aa-4aad-be4f-d6c128242f4f	434e2876-17fb-431e-b7c8-265f9d172e31	g.chr19:12739121C>G	ENST00000343325.4	+	4	940	c.778C>G	c.(778-780)Cta>Gta	p.L260V	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000540038.1_Missense_Mutation_p.L151V|ZNF791_ENST00000458122.3_Missense_Mutation_p.L228V|AC010422.1_ENST00000408416.1_RNA|ZNF791_ENST00000446165.1_3'UTR	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	260					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CACAAGTGTTCTAACACACAT	0.388																																																	0													64.0	53.0	56.0					19																	12739121		2203	4300	6503	SO:0001583	missense	163049			AK074877	CCDS12273.1	19p13.2-p13.13	2013-01-08			ENSG00000173875	ENSG00000173875		"""Zinc fingers, C2H2-type"", ""-"""	26895	protein-coding gene	gene with protein product							Standard	NM_153358		Approved	FLJ90396	uc002mua.2	Q3KP31	OTTHUMG00000156426	ENST00000343325.4:c.778C>G	19.37:g.12739121C>G	ENSP00000342974:p.Leu260Val		B7Z586|Q8NC99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L260V	ENST00000343325.4	37	c.778	CCDS12273.1	19	.	.	.	.	.	.	.	.	.	.	C	1.531	-0.544278	0.04024	.	.	ENSG00000173875	ENST00000343325;ENST00000393303;ENST00000458122;ENST00000540038	T;T;T	0.07327	3.2;3.2;3.2	1.83	-1.4	0.08968	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03871	0.0109	N	0.05124	-0.11	0.09310	N	1	B	0.30068	0.267	B	0.35971	0.215	T	0.47983	-0.9074	9	0.24483	T	0.36	.	4.8431	0.13500	0.2298:0.5416:0.2285:0.0	.	260	Q3KP31	ZN791_HUMAN	V	260;242;228;151	ENSP00000342974:L260V;ENSP00000441761:L228V;ENSP00000441038:L151V	ENSP00000342974:L260V	L	+	1	2	ZNF791	12600121	0.001000	0.12720	0.113000	0.21522	0.964000	0.63967	0.469000	0.22067	0.053000	0.16036	0.491000	0.48974	CTA	ZNF791	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF791-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF791	HGNC	protein_coding	OTTHUMT00000344140.1	C	NM_153358		12739121	+1	no_errors	ENST00000343325	ensembl	human	known	70_37	missense	SNP	0.000	G
