#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCD3	5825	genome.wustl.edu	37	1	94980758	94980758	+	Splice_Site	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:94980758G>T	ENST00000370214.4	+	22	1926	c.1902G>T	c.(1900-1902)gaG>gaT	p.E634D	ABCD3_ENST00000394233.2_Splice_Site_p.E524D|ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000536817.1_Splice_Site_p.E561D|ABCD3_ENST00000454898.2_Splice_Site_p.E658D	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3	634	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.			VGITLFTVSHRKSLWKHHE -> GWHHSLHLCLIGNLFGNI MR (in Ref. 3; CAA58470). {ECO:0000305}.	ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AACATCATGAGGTTTGTATTT	0.299																																																	0													140.0	132.0	135.0					1																	94980758		2203	4299	6502	SO:0001630	splice_region_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.1902+1G>T	1.37:g.94980758G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	Missense_Mutation	SNP	pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_FA_transporter	p.E658D	ENST00000370214.4	37	c.1974	CCDS749.1	1	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666023	0.29604	.	.	ENSG00000117528	ENST00000394233;ENST00000454898;ENST00000536817;ENST00000370214	D;D;D;D	0.99706	-6.47;-6.47;-6.47;-6.47	5.92	5.92	0.95590	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.148719	0.64402	D	0.000012	D	0.96956	0.9006	N	0.16567	0.415	0.51012	D	0.999907	B;B;B	0.11235	0.004;0.001;0.001	B;B;B	0.14578	0.011;0.004;0.007	D	0.95414	0.8501	10	0.20519	T	0.43	-17.6173	12.0242	0.53360	0.0:0.129:0.7375:0.1335	.	658;524;634	E7EUE1;P28288-2;P28288	.;.;ABCD3_HUMAN	D	524;658;561;634	ENSP00000377780:E524D;ENSP00000403357:E658D;ENSP00000440692:E561D;ENSP00000359233:E634D	ENSP00000359233:E634D	E	+	3	2	ABCD3	94753346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.795000	0.55499	2.809000	0.96659	0.557000	0.71058	GAG	ABCD3	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter		0.299	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	G	NM_002858	Missense_Mutation	94980758	+1	no_errors	ENST00000454898	ensembl	human	known	70_37	missense	SNP	1.000	T
ACSF2	80221	genome.wustl.edu	37	17	48538695	48538695	+	Silent	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:48538695C>G	ENST00000300441.4	+	3	521	c.417C>G	c.(415-417)ctC>ctG	p.L139L	ACSF2_ENST00000504392.1_Intron|ACSF2_ENST00000427954.2_Silent_p.L164L|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000502667.1_Silent_p.L139L	NM_025149.4	NP_079425.3	Q96CM8	ACSF2_HUMAN	acyl-CoA synthetase family member 2	139					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ligase activity (GO:0016874)			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CATGGGTGCTCATGCAGTTGG	0.602																																																	0													53.0	43.0	46.0					17																	48538695		2203	4300	6503	SO:0001819	synonymous_variant	80221			AK024573, BC012053	CCDS11567.1, CCDS74103.1, CCDS74104.1, CCDS74105.1	17q21.33	2007-10-17			ENSG00000167107	ENSG00000167107		"""Acyl-CoA synthetase family"""	26101	protein-coding gene	gene with protein product		610465				17762044	Standard	NM_001288968		Approved	FLJ20920, ACSMW	uc002iqu.2	Q96CM8	OTTHUMG00000162128	ENST00000300441.4:c.417C>G	17.37:g.48538695C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFQ6|B4DHT5|B4DUF5|Q9H7G2	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.L139	ENST00000300441.4	37	c.417	CCDS11567.1	17																																																																																			ACSF2	-	pfam_AMP-dep_Synth/Lig		0.602	ACSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSF2	HGNC	protein_coding	OTTHUMT00000367423.3	C	NM_025149		48538695	+1	no_errors	ENST00000300441	ensembl	human	known	70_37	silent	SNP	0.997	G
ACSM5	54988	genome.wustl.edu	37	16	20451221	20451221	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr16:20451221C>A	ENST00000331849.4	+	13	1783	c.1636C>A	c.(1636-1638)Cca>Aca	p.P546T	CTD-2194A8.2_ENST00000574654.1_RNA|CTD-2194A8.2_ENST00000575772.1_RNA	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	546					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						GGTGACTGCTCCATACAAATA	0.537																																																	0													94.0	88.0	90.0					16																	20451221		2203	4299	6502	SO:0001583	missense	54988				CCDS10585.1	16p12.3	2007-10-17			ENSG00000183549	ENSG00000183549		"""Acyl-CoA synthetase family"""	26060	protein-coding gene	gene with protein product		614361				17762044	Standard	NM_017888		Approved	FLJ20581	uc002dhe.3	Q6NUN0	OTTHUMG00000131551	ENST00000331849.4:c.1636C>A	16.37:g.20451221C>A	ENSP00000327916:p.Pro546Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AV1|Q96CX8|Q9NWV3	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.P546T	ENST00000331849.4	37	c.1636	CCDS10585.1	16	.	.	.	.	.	.	.	.	.	.	C	18.20	3.571433	0.65765	.	.	ENSG00000183549	ENST00000331849	T	0.59638	0.25	5.01	5.01	0.66863	.	0.000000	0.56097	D	0.000035	T	0.79167	0.4400	M	0.85710	2.77	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	T	0.82963	-0.0196	10	0.87932	D	0	-14.9326	17.452	0.87594	0.0:1.0:0.0:0.0	.	546	Q6NUN0	ACSM5_HUMAN	T	546	ENSP00000327916:P546T	ENSP00000327916:P546T	P	+	1	0	ACSM5	20358722	1.000000	0.71417	0.723000	0.30687	0.446000	0.32137	6.419000	0.73345	2.487000	0.83934	0.655000	0.94253	CCA	ACSM5	-	NULL		0.537	ACSM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM5	HGNC	protein_coding	OTTHUMT00000254413.1	C	NM_017888		20451221	+1	no_errors	ENST00000331849	ensembl	human	known	70_37	missense	SNP	0.998	A
ACTL9	284382	genome.wustl.edu	37	19	8808989	8808989	+	Silent	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:8808989G>C	ENST00000324436.3	-	1	183	c.63C>G	c.(61-63)ggC>ggG	p.G21G		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	21						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TGGGGTTTGGGCCGGGCCTGG	0.662																																																	0													45.0	58.0	54.0					19																	8808989		2192	4288	6480	SO:0001819	synonymous_variant	284382				CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.63C>G	19.37:g.8808989G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K893|Q6X960	Silent	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.G21	ENST00000324436.3	37	c.63	CCDS12207.1	19																																																																																			ACTL9	-	NULL		0.662	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL9	HGNC	protein_coding	OTTHUMT00000459953.1	G	NM_178525		8808989	-1	no_errors	ENST00000324436	ensembl	human	known	70_37	silent	SNP	0.004	C
ADAM18	8749	genome.wustl.edu	37	8	39496008	39496008	+	Silent	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:39496008G>T	ENST00000265707.5	+	10	897	c.852G>T	c.(850-852)gtG>gtT	p.V284V	ADAM18_ENST00000541111.1_5'UTR|ADAM18_ENST00000379866.1_Silent_p.V260V	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	284	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.		V -> G (in a cutaneous metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:21618342}.		cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CTAAATATGTGGGAGCAACAT	0.289																																																	0													107.0	103.0	104.0					8																	39496008		2203	4295	6498	SO:0001819	synonymous_variant	8749			AJ133004	CCDS6113.1, CCDS55225.1	8p11.22	2008-08-07	2005-08-18		ENSG00000168619	ENSG00000168619		"""ADAM metallopeptidase domain containing"""	196	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 18"""			12200459	Standard	NM_014237		Approved	tMDCIII, ADAM27	uc003xni.3	Q9Y3Q7	OTTHUMG00000164040	ENST00000265707.5:c.852G>T	8.37:g.39496008G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Y0|Q0VAI4|Q6IRW9|Q6UXJ9	Silent	SNP	pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.V284	ENST00000265707.5	37	c.852	CCDS6113.1	8																																																																																			ADAM18	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B		0.289	ADAM18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM18	HGNC	protein_coding	OTTHUMT00000376916.1	G	NM_014237		39496008	+1	no_errors	ENST00000265707	ensembl	human	known	70_37	silent	SNP	0.318	T
ADCY4	196883	genome.wustl.edu	37	14	24792559	24792559	+	Silent	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:24792559G>A	ENST00000310677.4	-	18	2261	c.2148C>T	c.(2146-2148)atC>atT	p.I716I	ADCY4_ENST00000396747.3_Silent_p.I409I|ADCY4_ENST00000418030.2_Silent_p.I716I|ADCY4_ENST00000554068.2_Silent_p.I716I	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	716					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CTGGGACACTGATGAGAGGCA	0.557																																																	0													50.0	38.0	42.0					14																	24792559		2197	4264	6461	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.2148C>T	14.37:g.24792559G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I716	ENST00000310677.4	37	c.2148	CCDS9627.1	14																																																																																			ADCY4	-	NULL		0.557	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24792559	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	silent	SNP	0.991	A
ANKRD34A	284615	genome.wustl.edu	37	1	145473903	145473903	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:145473903C>G	ENST00000323397.4	+	4	1868	c.575C>G	c.(574-576)gCt>gGt	p.A192G	RP11-315I20.1_ENST00000600340.1_RNA	NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	192						cytoplasm (GO:0005737)				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGCAGACCGCTGGAGGAGGA	0.607																																																	0													61.0	65.0	64.0					1																	145473903		2203	4300	6503	SO:0001583	missense	284615			AK128050	CCDS72874.1	1q21.1	2013-01-10	2007-11-20	2007-11-20	ENSG00000181039	ENSG00000272031		"""Ankyrin repeat domain containing"""	27639	protein-coding gene	gene with protein product			"""ankyrin repeat domain 34"""	ANKRD34			Standard	NM_001039888		Approved		uc001enq.1	Q69YU3	OTTHUMG00000013740	ENST00000323397.4:c.575C>G	1.37:g.145473903C>G	ENSP00000314103:p.Ala192Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSU3	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.A192G	ENST00000323397.4	37	c.575	CCDS30829.1	1	.	.	.	.	.	.	.	.	.	.	C	13.08	2.130607	0.37630	.	.	ENSG00000181039	ENST00000323397	T	0.72615	-0.67	4.14	4.14	0.48551	.	0.655224	0.14347	N	0.325344	T	0.34077	0.0885	N	0.02011	-0.69	0.35810	D	0.823815	P	0.38711	0.643	B	0.41691	0.364	T	0.38693	-0.9649	10	0.40728	T	0.16	-7.3597	12.2657	0.54676	0.0:1.0:0.0:0.0	.	192	Q69YU3	AN34A_HUMAN	G	192	ENSP00000314103:A192G	ENSP00000314103:A192G	A	+	2	0	ANKRD34A	144185260	0.087000	0.21565	0.978000	0.43139	0.914000	0.54420	1.272000	0.33109	2.597000	0.87782	0.485000	0.47835	GCT	ANKRD34A	-	NULL		0.607	ANKRD34A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD34A	HGNC	protein_coding	OTTHUMT00000038512.1	C			145473903	+1	no_errors	ENST00000323397	ensembl	human	known	70_37	missense	SNP	0.994	G
APCDD1L	164284	genome.wustl.edu	37	20	57036492	57036492	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr20:57036492G>C	ENST00000371149.3	-	4	1090	c.860C>G	c.(859-861)tCg>tGg	p.S287W	APCDD1L_ENST00000491015.1_5'UTR|APCDD1L_ENST00000439429.1_Missense_Mutation_p.S298W	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	287						integral component of membrane (GO:0016021)				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CTCGCACCCCGAGCTGACCCA	0.687																																																	0													10.0	10.0	10.0					20																	57036492		2164	4254	6418	SO:0001583	missense	164284			AK074647	CCDS13467.1	20q13.32	2006-07-07			ENSG00000198768	ENSG00000198768			26892	protein-coding gene	gene with protein product							Standard	NM_153360		Approved	FLJ90166	uc002xze.1	Q8NCL9	OTTHUMG00000032845	ENST00000371149.3:c.860C>G	20.37:g.57036492G>C	ENSP00000360191:p.Ser287Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S298W	ENST00000371149.3	37	c.893	CCDS13467.1	20	.	.	.	.	.	.	.	.	.	.	G	9.477	1.097162	0.20552	.	.	ENSG00000198768	ENST00000371149;ENST00000439429	T;T	0.19105	2.17;2.17	4.44	2.01	0.26516	.	1.721060	0.02886	N	0.133503	T	0.30479	0.0766	L	0.39898	1.24	0.09310	N	1	D;D	0.69078	0.997;0.994	P;P	0.54238	0.746;0.666	T	0.14615	-1.0466	10	0.59425	D	0.04	-1.2958	6.7257	0.23355	0.1959:0.1501:0.654:0.0	.	298;287	F5H6V6;Q8NCL9	.;APCDL_HUMAN	W	287;298	ENSP00000360191:S287W;ENSP00000413261:S298W	ENSP00000360191:S287W	S	-	2	0	APCDD1L	56469898	0.009000	0.17119	0.002000	0.10522	0.011000	0.07611	1.772000	0.38552	0.830000	0.34757	0.563000	0.77884	TCG	APCDD1L	-	NULL		0.687	APCDD1L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APCDD1L	HGNC	protein_coding	OTTHUMT00000079881.2	G	NM_153360		57036492	-1	no_errors	ENST00000439429	ensembl	human	known	70_37	missense	SNP	0.000	C
ARHGAP29	9411	genome.wustl.edu	37	1	94654878	94654878	+	Missense_Mutation	SNP	T	T	G	rs369014370		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:94654878T>G	ENST00000260526.6	-	14	1652	c.1470A>C	c.(1468-1470)caA>caC	p.Q490H	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	490					positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCCTGAAGGTTGGGAACTAT	0.343																																																	0													72.0	72.0	72.0					1																	94654878		2202	4299	6501	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.1470A>C	1.37:g.94654878T>G	ENSP00000260526:p.Gln490His	Somatic		WXS	Illumina HiSeq	Phase_IV	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.Q490H	ENST00000260526.6	37	c.1470	CCDS748.1	1	.	.	.	.	.	.	.	.	.	.	T	12.47	1.948617	0.34377	.	.	ENSG00000137962	ENST00000260526	T	0.23348	1.91	5.54	-4.22	0.03800	.	0.912664	0.09023	N	0.859861	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.10450	0.001;0.005	T	0.41466	-0.9507	10	0.37606	T	0.19	0.06	3.2917	0.06952	0.1966:0.4721:0.1462:0.1851	.	490;490	F8VWZ8;Q52LW3	.;RHG29_HUMAN	H	490	ENSP00000260526:Q490H	ENSP00000260526:Q490H	Q	-	3	2	ARHGAP29	94427466	0.001000	0.12720	0.000000	0.03702	0.436000	0.31835	-0.554000	0.06006	-0.545000	0.06224	-0.263000	0.10527	CAA	ARHGAP29	-	NULL		0.343	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP29	HGNC	protein_coding	OTTHUMT00000029376.2	T	NM_004815		94654878	-1	no_errors	ENST00000260526	ensembl	human	known	70_37	missense	SNP	0.001	G
ARPP21	10777	genome.wustl.edu	37	3	35724351	35724351	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:35724351G>T	ENST00000187397.4	+	4	597	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ARPP21_ENST00000444190.1_Missense_Mutation_p.E47D|ARPP21_ENST00000427542.1_Missense_Mutation_p.E47D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E47D|ARPP21_ENST00000436702.1_Missense_Mutation_p.E47D|ARPP21_ENST00000474696.1_Missense_Mutation_p.E47D|ARPP21_ENST00000441454.1_Missense_Mutation_p.E47D|ARPP21_ENST00000428373.1_Missense_Mutation_p.E47D|ARPP21_ENST00000396482.2_Missense_Mutation_p.E47D|ARPP21_ENST00000432682.1_Missense_Mutation_p.E47D|ARPP21_ENST00000438071.1_Missense_Mutation_p.E47D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E47D|ARPP21_ENST00000412048.1_Missense_Mutation_p.E47D|ARPP21_ENST00000396481.2_Missense_Mutation_p.E47D|ARPP21_ENST00000458225.1_Missense_Mutation_p.E47D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	47					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						GGCGGCTGGAGGCTCAGAATC	0.333																																																	0													72.0	83.0	79.0					3																	35724351		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.141G>T	3.37:g.35724351G>T	ENSP00000187397:p.Glu47Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E47D	ENST00000187397.4	37	c.141	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592661	0.46214	.	.	ENSG00000172995	ENST00000450234;ENST00000428373;ENST00000458225;ENST00000337271;ENST00000444190;ENST00000449196;ENST00000187397;ENST00000452563;ENST00000438577;ENST00000427542;ENST00000474696;ENST00000412048;ENST00000396482;ENST00000432682;ENST00000432450;ENST00000413378;ENST00000417925;ENST00000396481;ENST00000441454;ENST00000436702;ENST00000438071	T;T;T;T;T;T;T	0.43688	0.94;1.94;1.94;1.94;1.94;0.94;1.94	6.02	-8.43	0.00953	.	0.693376	0.14002	N	0.348026	T	0.10680	0.0261	N	0.01352	-0.895	0.19575	N	0.999969	B;B;B;B	0.06786	0.0;0.001;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.38134	-0.9675	10	0.15952	T	0.53	-4.0006	9.492	0.38965	0.2547:0.0:0.6177:0.1276	.	47;47;47;47	Q9UBL0-3;A8K1F3;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	D	47	ENSP00000411644:E47D;ENSP00000414351:E47D;ENSP00000337792:E47D;ENSP00000405276:E47D;ENSP00000187397:E47D;ENSP00000390169:E47D;ENSP00000412326:E47D	ENSP00000187397:E47D	E	+	3	2	ARPP21	35699355	0.095000	0.21747	0.753000	0.31225	0.936000	0.57629	-0.661000	0.05311	-1.056000	0.03205	0.655000	0.94253	GAG	ARPP21	-	NULL		0.333	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35724351	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	0.758	T
ARPP21	10777	genome.wustl.edu	37	3	35835430	35835430	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:35835430G>T	ENST00000187397.4	+	20	2875	c.2419G>T	c.(2419-2421)Ggt>Tgt	p.G807C	ARPP21_ENST00000444190.1_Missense_Mutation_p.G788C|ARPP21_ENST00000417925.1_Missense_Mutation_p.G808C|ARPP21_ENST00000476052.1_3'UTR|ARPP21_ENST00000337271.5_Missense_Mutation_p.G788C|ARPP21_ENST00000458225.1_Missense_Mutation_p.G808C	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	807					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						GAGCAATGCTGGTTGGCAGGT	0.493																																																	0													71.0	63.0	66.0					3																	35835430		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.2419G>T	3.37:g.35835430G>T	ENSP00000187397:p.Gly807Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.G808C	ENST00000187397.4	37	c.2422	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.033205	0.75504	.	.	ENSG00000172995	ENST00000458225;ENST00000337271;ENST00000444190;ENST00000187397;ENST00000417925	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	6.17	6.17	0.99709	.	0.155479	0.45867	D	0.000321	T	0.63283	0.2498	L	0.51422	1.61	0.45867	D	0.998729	D;D;P;D	0.63046	0.965;0.992;0.942;0.965	P;D;P;P	0.63381	0.776;0.914;0.451;0.776	T	0.58787	-0.7575	10	0.49607	T	0.09	-10.7637	19.0599	0.93085	0.0:0.0:1.0:0.0	.	808;330;807;788	Q9UBL0-3;Q9UBL0-5;Q9UBL0;Q9UBL0-4	.;.;ARP21_HUMAN;.	C	808;788;788;807;808	ENSP00000414351:G808C;ENSP00000337792:G788C;ENSP00000405276:G788C;ENSP00000187397:G807C;ENSP00000412326:G808C	ENSP00000187397:G807C	G	+	1	0	ARPP21	35810434	1.000000	0.71417	0.902000	0.35471	0.906000	0.53458	4.990000	0.63876	2.941000	0.99782	0.655000	0.94253	GGT	ARPP21	-	NULL		0.493	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35835430	+1	no_errors	ENST00000417925	ensembl	human	known	70_37	missense	SNP	0.992	T
ASB15	142685	genome.wustl.edu	37	7	123254659	123254659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:123254659G>T	ENST00000451558.1	+	6	624	c.103G>T	c.(103-105)Gaa>Taa	p.E35*	RP11-390E23.3_ENST00000422401.1_RNA|RP11-390E23.3_ENST00000440504.1_RNA|ASB15_ENST00000540573.1_Nonsense_Mutation_p.E35*|ASB15_ENST00000451215.1_Nonsense_Mutation_p.E35*|RP11-390E23.3_ENST00000418409.1_RNA|ASB15_ENST00000434204.1_Nonsense_Mutation_p.E35*|ASB15_ENST00000275699.3_Nonsense_Mutation_p.E35*			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	35					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						ACTTTGTCCTGAAAGGTAGTA	0.363																																																	0													155.0	158.0	157.0					7																	123254659		2203	4300	6503	SO:0001587	stop_gained	142685			AF403033	CCDS34742.1	7q31.31	2013-01-10	2011-01-25		ENSG00000146809	ENSG00000146809		"""Ankyrin repeat domain containing"""	19767	protein-coding gene	gene with protein product			"""ankyrin repeat and SOCS box-containing 15"""			12076535	Standard	XM_005250149		Approved	FLJ43370	uc003vkw.1	Q8WXK1	OTTHUMG00000157114	ENST00000451558.1:c.103G>T	7.37:g.123254659G>T	ENSP00000397655:p.Glu35*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCP3|Q3ZCP5|Q68D37	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.E35*	ENST00000451558.1	37	c.103	CCDS34742.1	7	.	.	.	.	.	.	.	.	.	.	G	23.1	4.379905	0.82682	.	.	ENSG00000146809	ENST00000451558;ENST00000434204;ENST00000437535;ENST00000451215;ENST00000540573;ENST00000447789;ENST00000275699	.	.	.	6.04	5.15	0.70609	.	0.431099	0.22390	N	0.060698	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07175	T	0.84	0.0241	13.5652	0.61813	0.0759:0.0:0.9241:0.0	.	.	.	.	X	35	.	ENSP00000275699:E35X	E	+	1	0	ASB15	123041895	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	3.750000	0.55157	1.537000	0.49254	0.563000	0.77884	GAA	ASB15	-	NULL		0.363	ASB15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB15	HGNC	protein_coding	OTTHUMT00000347493.1	G			123254659	+1	no_errors	ENST00000275699	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BRPF1	7862	genome.wustl.edu	37	3	9775982	9775982	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:9775982C>A	ENST00000457855.1	+	1	169	c.158C>A	c.(157-159)cCa>cAa	p.P53Q	BRPF1_ENST00000302054.3_Missense_Mutation_p.P53Q|BRPF1_ENST00000383829.2_Missense_Mutation_p.P53Q|BRPF1_ENST00000424362.1_Missense_Mutation_p.P53Q|BRPF1_ENST00000433861.2_Missense_Mutation_p.P53Q			P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	53					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCACCACCCCCACAACAAACT	0.572																																																	0													181.0	205.0	197.0					3																	9775982		2203	4300	6503	SO:0001583	missense	7862			M91585	CCDS2575.1, CCDS33692.1	3p26-p25	2008-07-18			ENSG00000156983	ENSG00000156983			14255	protein-coding gene	gene with protein product	"""peregrin"", ""bromodomain-containing protein, 140kD"""	602410				8946209, 7906940	Standard	NM_001003694		Approved	BR140	uc003bsf.3	P55201	OTTHUMG00000097033	ENST00000457855.1:c.158C>A	3.37:g.9775982C>A	ENSP00000410210:p.Pro53Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEZ6|Q7Z6E0|Q8TCM6|Q9UHI0	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain	p.P53Q	ENST00000457855.1	37	c.158	CCDS2575.1	3	.	.	.	.	.	.	.	.	.	.	C	12.07	1.828126	0.32329	.	.	ENSG00000156983	ENST00000433861;ENST00000424362;ENST00000383829;ENST00000302054;ENST00000420291;ENST00000426583;ENST00000457855	T;T;T;T;T;T	0.44881	2.33;2.32;3.71;2.31;0.91;2.31	5.62	5.62	0.85841	.	0.163836	0.53938	N	0.000048	T	0.30634	0.0771	N	0.21448	0.665	0.52501	D	0.999951	B;B;B;B	0.19583	0.037;0.006;0.01;0.005	B;B;B;B	0.23852	0.049;0.003;0.003;0.002	T	0.07290	-1.0780	10	0.27082	T	0.32	.	13.406	0.60913	0.1575:0.8425:0.0:0.0	.	53;53;53;53	P55201-4;P55201-3;P55201-2;P55201	.;.;.;BRPF1_HUMAN	Q	53	ENSP00000402485:P53Q;ENSP00000398863:P53Q;ENSP00000373340:P53Q;ENSP00000306297:P53Q;ENSP00000404235:P53Q;ENSP00000410210:P53Q	ENSP00000306297:P53Q	P	+	2	0	BRPF1	9750982	0.990000	0.36364	0.991000	0.47740	0.419000	0.31324	3.350000	0.52224	2.651000	0.90000	0.563000	0.77884	CCA	BRPF1	-	NULL		0.572	BRPF1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BRPF1	HGNC	protein_coding	OTTHUMT00000338485.1	C	NM_001003694		9775982	+1	no_errors	ENST00000383829	ensembl	human	known	70_37	missense	SNP	0.986	A
C17orf47	284083	genome.wustl.edu	37	17	56620839	56620839	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:56620839G>C	ENST00000321691.3	-	1	890	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|SEPT4_ENST00000412945.3_5'Flank|SEPT4_ENST00000457347.2_5'Flank	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	237										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGGGCTGTCTGATAGTCTGCA	0.478																																																	0													95.0	101.0	99.0					17																	56620839		2203	4300	6503	SO:0001583	missense	284083				CCDS32691.1	17q23.2	2012-10-11			ENSG00000181013	ENSG00000181013			26844	protein-coding gene	gene with protein product							Standard	NM_001038704		Approved	FLJ40121	uc002iwq.2	Q8NEP4	OTTHUMG00000179244	ENST00000321691.3:c.709C>G	17.37:g.56620839G>C	ENSP00000354874:p.Gln237Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N821	Missense_Mutation	SNP	NULL	p.Q237E	ENST00000321691.3	37	c.709	CCDS32691.1	17	.	.	.	.	.	.	.	.	.	.	G	7.130	0.579674	0.13686	.	.	ENSG00000181013	ENST00000321691	T	0.28666	1.6	4.93	2.86	0.33363	.	0.969053	0.08484	N	0.939009	T	0.14874	0.0359	N	0.08118	0	0.09310	N	1	B	0.27732	0.187	B	0.27500	0.08	T	0.33675	-0.9859	10	0.15499	T	0.54	-0.4789	6.5404	0.22377	0.0955:0.0:0.7256:0.1788	.	237	Q8NEP4	CQ047_HUMAN	E	237	ENSP00000354874:Q237E	ENSP00000354874:Q237E	Q	-	1	0	C17orf47	53975838	0.001000	0.12720	0.000000	0.03702	0.027000	0.11550	0.805000	0.27112	0.699000	0.31761	0.563000	0.77884	CAG	C17orf47	-	NULL		0.478	C17orf47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf47	HGNC	protein_coding	OTTHUMT00000445443.1	G	NM_001038704		56620839	-1	no_errors	ENST00000321691	ensembl	human	known	70_37	missense	SNP	0.001	C
C1R	715	genome.wustl.edu	37	12	7187784	7187785	+	IGR	INS	-	-	T	rs374614759		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:7187784_7187785insT	ENST00000542285.1	-	0	2112							P00736	C1R_HUMAN	complement component 1, r subcomponent						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GTTGTTTTTTGTTTTTTTTTTT	0.411																																																	0																																										SO:0001628	intergenic_variant	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149		12.37:g.7187795_7187795dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJQ8|Q68D77|Q8J012	RNA	INS	-	NULL	ENST00000542285.1	37	NULL		12																																																																																			C1R	-	-		0.411	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		-	NM_001733		7187785	-1	no_errors	ENST00000458061	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
C6orf141	135398	genome.wustl.edu	37	6	49518869	49518869	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:49518869G>C	ENST00000529246.2	+	1	757	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	C6orf141_ENST00000424426.1_3'UTR	NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	122										breast(1)|prostate(1)	2						TGCGGGTGGAGAGGACCACGG	0.627																																																	0													26.0	29.0	28.0					6																	49518869		692	1591	2283	SO:0001583	missense	135398			AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.364G>C	6.37:g.49518869G>C	ENSP00000434602:p.Glu122Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1H4|Q8N400|Q96NQ1	Missense_Mutation	SNP	NULL	p.E122Q	ENST00000529246.2	37	c.364	CCDS55018.1	6	.	.	.	.	.	.	.	.	.	.	G	9.644	1.139834	0.21205	.	.	ENSG00000197261	ENST00000529246	T	0.28666	1.6	5.07	1.03	0.20045	.	.	.	.	.	T	0.04182	0.0116	N	0.08118	0	0.09310	N	1	B	0.15930	0.015	B	0.14023	0.01	T	0.41016	-0.9532	9	0.33940	T	0.23	.	3.4121	0.07363	0.0947:0.3526:0.3936:0.1591	.	122	Q5SZD1	CF141_HUMAN	Q	122	ENSP00000434602:E122Q	ENSP00000431184:E122Q	E	+	1	0	C6orf141	49626828	0.023000	0.18921	0.001000	0.08648	0.004000	0.04260	0.640000	0.24705	0.201000	0.20466	0.491000	0.48974	GAG	C6orf141	-	NULL		0.627	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf141	HGNC	protein_coding	OTTHUMT00000390228.1	G	NM_153344		49518869	+1	no_errors	ENST00000371194	ensembl	human	known	70_37	missense	SNP	0.001	C
CACNA1B	774	genome.wustl.edu	37	9	140807695	140807695	+	Missense_Mutation	SNP	G	G	T	rs201900845		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:140807695G>T	ENST00000371372.1	+	4	739	c.594G>T	c.(592-594)agG>agT	p.R198S	CACNA1B_ENST00000371357.1_Missense_Mutation_p.R198S|CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R198S|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R198S|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R198S	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	198					calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GTGTGCTGAGGCCCCTGAAGC	0.567																																																	0													63.0	66.0	65.0					9																	140807695		2088	4217	6305	SO:0001583	missense	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.594G>T	9.37:g.140807695G>T	ENSP00000360423:p.Arg198Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQK5	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2	p.R198S	ENST00000371372.1	37	c.594	CCDS59522.1	9	.	.	.	.	.	.	.	.	.	.	G	13.59	2.283576	0.40394	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	D;D;D;D;D	0.99594	-6.25;-6.25;-6.25;-6.25;-6.25	4.49	2.48	0.30137	.	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	H	0.99949	5.025	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96952	0.9695	10	0.87932	D	0	.	8.7641	0.34692	0.2658:0.0:0.7342:0.0	.	198	B1AQK6	.	S	198	ENSP00000360423:R198S;ENSP00000277551:R198S;ENSP00000360414:R198S;ENSP00000360408:R198S;ENSP00000360406:R198S	ENSP00000277551:R198S	R	+	3	2	CACNA1B	139927516	1.000000	0.71417	0.993000	0.49108	0.821000	0.46438	0.923000	0.28757	1.105000	0.41606	-0.258000	0.10820	AGG	CACNA1B	-	pfam_Ion_trans_dom		0.567	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1B	HGNC	protein_coding	OTTHUMT00000055380.1	G	NM_000718		140807695	+1	no_errors	ENST00000371355	ensembl	human	known	70_37	missense	SNP	1.000	T
CARD11	84433	genome.wustl.edu	37	7	2979539	2979539	+	Missense_Mutation	SNP	C	C	G	rs531157179		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:2979539C>G	ENST00000396946.4	-	6	1111	c.708G>C	c.(706-708)ttG>ttC	p.L236F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	236					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CCATCTTATTCAACCGGTGCT	0.493			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	0													145.0	132.0	137.0					7																	2979539		2203	4300	6503	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.708G>C	7.37:g.2979539C>G	ENSP00000380150:p.Leu236Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD	p.L236F	ENST00000396946.4	37	c.708	CCDS5336.2	7	.	.	.	.	.	.	.	.	.	.	C	18.29	3.590390	0.66219	.	.	ENSG00000198286	ENST00000396946	T	0.37752	1.18	5.67	2.48	0.30137	.	0.078699	0.52532	D	0.000062	T	0.54208	0.1844	M	0.68317	2.08	0.43103	D	0.994793	D	0.89917	1.0	D	0.77557	0.99	T	0.54984	-0.8211	10	0.46703	T	0.11	-10.7888	11.9513	0.52956	0.0:0.7801:0.0:0.2199	.	236	Q9BXL7	CAR11_HUMAN	F	236	ENSP00000380150:L236F	ENSP00000380150:L236F	L	-	3	2	CARD11	2946065	1.000000	0.71417	0.913000	0.36048	0.995000	0.86356	1.836000	0.39191	0.777000	0.33496	0.579000	0.79373	TTG	CARD11	-	NULL		0.493	CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD11	HGNC	protein_coding	OTTHUMT00000059344.4	C	NM_032415		2979539	-1	no_errors	ENST00000396946	ensembl	human	known	70_37	missense	SNP	0.999	G
CCKBR	887	genome.wustl.edu	37	11	6291978	6291978	+	Silent	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:6291978C>T	ENST00000334619.2	+	4	949	c.756C>T	c.(754-756)gaC>gaT	p.D252D	CCKBR_ENST00000532715.1_Silent_p.D168D|CCKBR_ENST00000525462.1_Silent_p.D252D	NM_176875.3	NP_795344.1	P32239	GASR_HUMAN	cholecystokinin B receptor	252					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cholecystokinin signaling pathway (GO:0038188)|digestion (GO:0007586)|digestive tract development (GO:0048565)|feeding behavior (GO:0007631)|gastric acid secretion (GO:0001696)|gland development (GO:0048732)|metabolic process (GO:0008152)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|cholecystokinin receptor activity (GO:0004951)|gastrin receptor activity (GO:0015054)|phosphatidylinositol phospholipase C activity (GO:0004435)|type B gastrin/cholecystokinin receptor binding (GO:0031741)	p.D252D(2)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCGCTTTGACGGCGACAGTG	0.602																																																	2	Substitution - coding silent(2)	large_intestine(2)											111.0	86.0	94.0					11																	6291978		2201	4296	6497	SO:0001819	synonymous_variant	887			D13305	CCDS7761.1	11p15.4	2012-08-10			ENSG00000110148	ENSG00000110148		"""GPCR / Class A : Cholecystokinin receptors"""	1571	protein-coding gene	gene with protein product		118445				1280419	Standard	NM_176875		Approved		uc001mcp.3	P32239	OTTHUMG00000133380	ENST00000334619.2:c.756C>T	11.37:g.6291978C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7P9|O75824|Q16144|Q92492|Q96LC6|Q9NYK7|Q9UBV1	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.D252	ENST00000334619.2	37	c.756	CCDS7761.1	11																																																																																			CCKBR	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt		0.602	CCKBR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCKBR	HGNC	protein_coding	OTTHUMT00000257230.2	C	NM_176875		6291978	+1	no_errors	ENST00000525462	ensembl	human	known	70_37	silent	SNP	0.022	T
CD300A	11314	genome.wustl.edu	37	17	72469699	72469699	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:72469699G>T	ENST00000360141.3	+	2	353	c.65G>T	c.(64-66)aGg>aTg	p.R22M	CD300A_ENST00000392625.3_Intron|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	22	Ig-like V-type.				cell adhesion (GO:0007155)|immune system process (GO:0002376)|negative regulation of activation of JAK2 kinase activity (GO:1902569)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of B cell receptor signaling pathway (GO:0050859)|negative regulation of eosinophil activation (GO:1902567)|negative regulation of eosinophil migration (GO:2000417)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of mast cell activation involved in immune response (GO:0033007)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of neutrophil activation (GO:1902564)|negative regulation of NK T cell activation (GO:0051134)|negative regulation of phagocytosis, engulfment (GO:0060101)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|regulation of T cell receptor signaling pathway (GO:0050856)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylethanolamine binding (GO:0008429)|phosphatidylserine binding (GO:0001786)|signaling receptor activity (GO:0038023)			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						AGCAAATGCAGGACCGTGGCG	0.587																																																	0													66.0	71.0	69.0					17																	72469699		2203	4300	6503	SO:0001583	missense	11314			BC032352	CCDS32720.1, CCDS58590.1	17q25.2	2013-01-11	2006-03-28		ENSG00000167851	ENSG00000167851		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	19319	protein-coding gene	gene with protein product		606790	"""CD300a antigen"""			9701027, 10746781	Standard	NM_007261		Approved	Irp60, CMRF35H, CMRF-35-H9, IRC1, IRC2, IGSF12	uc002jkv.4	Q9UGN4	OTTHUMG00000067612	ENST00000360141.3:c.65G>T	17.37:g.72469699G>T	ENSP00000353259:p.Arg22Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MW96|O95100|Q9HD97|Q9P0F3|Q9UBK4|Q9UMS9|Q9UMT0	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.R22M	ENST00000360141.3	37	c.65	CCDS32720.1	17	.	.	.	.	.	.	.	.	.	.	G	8.950	0.967890	0.18659	.	.	ENSG00000167851	ENST00000360141	T	0.68624	-0.34	4.06	-8.12	0.01078	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	7.574060	0.00166	N	0.000002	T	0.51143	0.1657	L	0.42581	1.335	0.09310	N	0.999999	B	0.22851	0.076	B	0.19148	0.024	T	0.34204	-0.9838	10	0.54805	T	0.06	.	2.6733	0.05074	0.4931:0.2249:0.1682:0.1137	.	22	Q9UGN4	CLM8_HUMAN	M	22	ENSP00000353259:R22M	ENSP00000353259:R22M	R	+	2	0	CD300A	69981294	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.650000	0.01991	-1.792000	0.01259	-1.872000	0.00552	AGG	CD300A	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.587	CD300A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300A	HGNC	protein_coding	OTTHUMT00000145091.1	G	NM_007261		72469699	+1	no_errors	ENST00000360141	ensembl	human	known	70_37	missense	SNP	0.000	T
CELA2B	51032	genome.wustl.edu	37	1	15807647	15807647	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:15807647C>A	ENST00000375910.3	+	3	209	c.184C>A	c.(184-186)Ctg>Atg	p.L62M	CELA2B_ENST00000494280.1_3'UTR	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	62	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGAGGGTCCCTGATAGCCAA	0.612																																																	0													127.0	111.0	117.0					1																	15807647		2203	4300	6503	SO:0001583	missense	51032				CCDS30605.1	1p36.21	2009-07-09			ENSG00000215704	ENSG00000215704			29995	protein-coding gene	gene with protein product	"""pancreatic elastase IIB"""	609444				3646943, 16327289	Standard	NM_015849		Approved	RP11-265F14.2, ELA2B	uc001awl.3	P08218	OTTHUMG00000002259	ENST00000375910.3:c.184C>A	1.37:g.15807647C>A	ENSP00000365075:p.Leu62Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D16|Q6ISM5|Q96QV5	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.L62M	ENST00000375910.3	37	c.184	CCDS30605.1	1	.	.	.	.	.	.	.	.	.	.	C	15.09	2.731608	0.48939	.	.	ENSG00000215704	ENST00000375910;ENST00000375909;ENST00000422901	D;D	0.97430	-4.38;-3.19	4.0	3.07	0.35406	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.45867	U	0.000328	D	0.98544	0.9514	M	0.92077	3.27	0.35362	D	0.788332	D	0.89917	1.0	D	0.91635	0.999	D	0.99960	1.1701	10	0.87932	D	0	.	11.5534	0.50733	0.0:0.8171:0.1829:0.0	.	62	P08218	CEL2B_HUMAN	M	62;34;46	ENSP00000365075:L62M;ENSP00000399811:L46M	ENSP00000365074:L34M	L	+	1	2	CELA2B	15680234	0.999000	0.42202	0.995000	0.50966	0.585000	0.36419	2.123000	0.41996	1.003000	0.39130	-0.243000	0.11985	CTG	CELA2B	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A		0.612	CELA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELA2B	HGNC	protein_coding	OTTHUMT00000006448.1	C	NM_015849		15807647	+1	no_errors	ENST00000375910	ensembl	human	known	70_37	missense	SNP	1.000	A
CHM	1121	genome.wustl.edu	37	X	85211314	85211314	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:85211314A>G	ENST00000357749.2	-	8	1039	c.1010T>C	c.(1009-1011)gTc>gCc	p.V337A	CHM_ENST00000537751.1_Missense_Mutation_p.V189A|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	337					blood vessel development (GO:0001568)|protein geranylgeranylation (GO:0018344)|protein targeting to membrane (GO:0006612)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	cytosol (GO:0005829)|Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGAATGCATGACAATATATTG	0.358																																																	0													95.0	75.0	82.0					X																	85211314		2203	4300	6503	SO:0001583	missense	1121			X78121	CCDS14454.1, CCDS48139.1	Xq21.1-q21.3	2014-09-17			ENSG00000188419	ENSG00000188419			1940	protein-coding gene	gene with protein product		300390		TCD, DXS540		1373238	Standard	XM_006724615		Approved	REP-1	uc004eet.3	P24386	OTTHUMG00000021937	ENST00000357749.2:c.1010T>C	X.37:g.85211314A>G	ENSP00000350386:p.Val337Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4D2|O43732	Missense_Mutation	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.V337A	ENST00000357749.2	37	c.1010	CCDS14454.1	X	.	.	.	.	.	.	.	.	.	.	A	16.86	3.239596	0.58995	.	.	ENSG00000188419	ENST00000357749;ENST00000537751	D;D	0.87966	-2.32;-2.32	4.38	4.38	0.52667	.	0.280376	0.34853	N	0.003626	D	0.93588	0.7953	M	0.88105	2.93	0.49915	D	0.99983	P	0.48911	0.917	D	0.64595	0.927	D	0.94423	0.7642	10	0.72032	D	0.01	-9.1225	12.8489	0.57846	1.0:0.0:0.0:0.0	.	337	P24386	RAE1_HUMAN	A	337;189	ENSP00000350386:V337A;ENSP00000441728:V189A	ENSP00000350386:V337A	V	-	2	0	CHM	85097970	1.000000	0.71417	0.998000	0.56505	0.520000	0.34377	8.100000	0.89544	1.600000	0.50102	0.417000	0.27973	GTC	CHM	-	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk		0.358	CHM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHM	HGNC	protein_coding	OTTHUMT00000057396.3	A	NM_000390		85211314	-1	no_errors	ENST00000357749	ensembl	human	known	70_37	missense	SNP	1.000	G
CILP2	148113	genome.wustl.edu	37	19	19656052	19656052	+	Missense_Mutation	SNP	G	G	A	rs541483234		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:19656052G>A	ENST00000291495.5	+	8	2783	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	CILP2_ENST00000586018.1_Missense_Mutation_p.A906T	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	900						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTTCCGCTTCGCCAGGGTGGA	0.692																																																	0													32.0	28.0	29.0					19																	19656052		2200	4289	6489	SO:0001583	missense	148113			AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2698G>A	19.37:g.19656052G>A	ENSP00000291495:p.Ala900Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.A900T	ENST00000291495.5	37	c.2698	CCDS12405.1	19	.	.	.	.	.	.	.	.	.	.	G	14.73	2.622226	0.46840	.	.	ENSG00000160161	ENST00000291495	T	0.09911	2.93	5.5	-1.84	0.07809	.	0.238723	0.43579	D	0.000556	T	0.04907	0.0132	N	0.08118	0	0.24556	N	0.99399	B;B	0.34399	0.452;0.452	B;B	0.26969	0.058;0.075	T	0.28870	-1.0030	10	0.59425	D	0.04	-10.7293	15.2121	0.73235	0.0:0.0:0.2596:0.7404	.	900;900	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	T	900	ENSP00000291495:A900T	ENSP00000291495:A900T	A	+	1	0	CILP2	19517052	0.979000	0.34478	0.163000	0.22734	0.891000	0.51852	3.574000	0.53863	-0.129000	0.11620	-0.320000	0.08662	GCC	CILP2	-	NULL		0.692	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CILP2	HGNC	protein_coding	OTTHUMT00000459738.3	G	NM_153221		19656052	+1	no_errors	ENST00000291495	ensembl	human	known	70_37	missense	SNP	0.932	A
COL16A1	1307	genome.wustl.edu	37	1	32138051	32138051	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:32138051C>G	ENST00000373672.3	-	47	3587	c.3071G>C	c.(3070-3072)gGt>gCt	p.G1024A	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1024A	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1024	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCCCGGAGGACCAGGTAGGCC	0.597																																					Colon(143;498 1786 21362 25193 36625)												0													81.0	89.0	86.0					1																	32138051		2024	4172	6196	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3071G>C	1.37:g.32138051C>G	ENSP00000362776:p.Gly1024Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.G1024A	ENST00000373672.3	37	c.3071	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.179068	0.57692	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000458715	D;D;D	0.99329	-5.75;-5.75;-3.27	4.45	4.45	0.53987	.	0.000000	0.85682	D	0.000000	D	0.99501	0.9822	M	0.93939	3.475	0.42395	D	0.992545	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	D	0.98206	1.0470	10	0.87932	D	0	.	12.7965	0.57562	0.0:1.0:0.0:0.0	.	1024;1024	Q07092;Q07092-2	COGA1_HUMAN;.	A	1024;1024;229	ENSP00000362776:G1024A;ENSP00000271069:G1024A;ENSP00000411457:G229A	ENSP00000271069:G1024A	G	-	2	0	COL16A1	31910638	0.989000	0.36119	0.972000	0.41901	0.948000	0.59901	4.194000	0.58393	2.480000	0.83734	0.561000	0.74099	GGT	COL16A1	-	pfam_Collagen		0.597	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32138051	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	0.992	G
CTSV	1515	genome.wustl.edu	37	9	99798947	99798947	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:99798947G>A	ENST00000259470.5	-	5	728	c.479C>T	c.(478-480)tCa>tTa	p.S160L	CTSV_ENST00000479932.1_5'Flank|CTSV_ENST00000538255.1_Missense_Mutation_p.S160L	NM_001333.3	NP_001324.2	O60911	CATL2_HUMAN	cathepsin V	160					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|autophagic cell death (GO:0048102)|catagen (GO:0042637)|cellular response to starvation (GO:0009267)|decidualization (GO:0046697)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|multicellular organismal aging (GO:0010259)|negative regulation of keratinocyte proliferation (GO:0010839)|nerve development (GO:0021675)|protein autoprocessing (GO:0016540)|regulation of actin cytoskeleton reorganization (GO:2000249)|response to glucocorticoid (GO:0051384)|response to glucose (GO:0009749)|response to gonadotropin (GO:0034698)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)|neuron projection (GO:0043005)|nucleolus (GO:0005730)|perikaryon (GO:0043204)	aminopeptidase activity (GO:0004177)|cysteine-type carboxypeptidase activity (GO:0016807)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|peptide binding (GO:0042277)										CTCGCTCAGTGAGACAAGTTT	0.493																																																	0													117.0	109.0	112.0					9																	99798947		2203	4300	6503	SO:0001583	missense	1515			Y14734	CCDS6723.1	9q22.33	2013-06-27	2013-06-27	2013-06-27	ENSG00000136943	ENSG00000136943		"""Cathepsins"""	2538	protein-coding gene	gene with protein product		603308	"""cathepsin L2"""	CTSL2		9563472, 10029531	Standard	NM_001201575		Approved	CTSU	uc004awt.3	O60911	OTTHUMG00000020314	ENST00000259470.5:c.479C>T	9.37:g.99798947G>A	ENSP00000259470:p.Ser160Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60233|Q2TB86|Q5T1U0	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.S160L	ENST00000259470.5	37	c.479	CCDS6723.1	9	.	.	.	.	.	.	.	.	.	.	G	25.9	4.683314	0.88542	.	.	ENSG00000136943	ENST00000259470;ENST00000538255	T;T	0.26067	1.76;1.76	3.8	3.8	0.43715	Peptidase C1A, papain C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.52901	0.1763	M	0.85777	2.775	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72338	0.963;0.977	T	0.59595	-0.7425	9	.	.	.	.	13.9668	0.64213	0.0:0.0:1.0:0.0	.	160;160	B2R717;O60911	.;CATL2_HUMAN	L	160	ENSP00000259470:S160L;ENSP00000445052:S160L	.	S	-	2	0	CTSL2	98838768	1.000000	0.71417	0.732000	0.30844	0.927000	0.56198	7.163000	0.77524	2.444000	0.82710	0.555000	0.69702	TCA	CTSL2	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.493	CTSV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSL2	HGNC	protein_coding	OTTHUMT00000053301.2	G	NM_001333		99798947	-1	no_errors	ENST00000259470	ensembl	human	known	70_37	missense	SNP	1.000	A
CYP2U1	113612	genome.wustl.edu	37	4	108871578	108871578	+	Nonstop_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:108871578G>T	ENST00000332884.6	+	5	1909	c.1634G>T	c.(1633-1635)tGa>tTa	p.*545L	RP11-286E11.1_ENST00000513071.1_RNA|CYP2U1_ENST00000508453.1_Nonstop_Mutation_p.*336L	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	0					arachidonic acid metabolic process (GO:0019369)|cell death (GO:0008219)|omega-hydroxylase P450 pathway (GO:0097267)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		TCAAGGAGATGAAGAGCATCT	0.388																																																	0													54.0	54.0	54.0					4																	108871578		2203	4300	6503	SO:0001578	stop_lost	113612			BC012027	CCDS34047.1	4q25	2012-11-23			ENSG00000155016	ENSG00000155016		"""Cytochrome P450s"""	20582	protein-coding gene	gene with protein product	"""spastic paraplegia 49"""	610670				14975754, 14660610	Standard	XM_005262717		Approved	SPG49	uc003hyp.3	Q7Z449	OTTHUMG00000161084	ENST00000332884.6:c.1634G>T	4.37:g.108871578G>T	ENSP00000333212:p.*545Leuext*18	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMV7|Q96EQ6	Nonstop_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B,prints_Cyt_P450_E_grp-I_CYP2D-like	p.*545L	ENST00000332884.6	37	c.1634	CCDS34047.1	4	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316380	0.40996	.	.	ENSG00000155016	ENST00000332884;ENST00000424249;ENST00000508453	.	.	.	5.26	1.23	0.21249	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.4147	0.32664	0.4355:0.0:0.5645:0.0	.	.	.	.	L	545;502;336	.	.	X	+	2	2	CYP2U1	109091027	0.998000	0.40836	0.824000	0.32777	0.976000	0.68499	0.401000	0.20948	0.274000	0.22072	0.555000	0.69702	TGA	CYP2U1	-	NULL		0.388	CYP2U1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2U1	HGNC	protein_coding	OTTHUMT00000363691.2	G	NM_183075		108871578	+1	no_errors	ENST00000332884	ensembl	human	known	70_37	nonstop	SNP	0.977	T
CYP7A1	1581	genome.wustl.edu	37	8	59410991	59410991	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:59410991G>T	ENST00000301645.3	-	2	255	c.118C>A	c.(118-120)Cca>Aca	p.P40T		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	40					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CCCAGGTATGGAATTAATCCA	0.423									Neonatal Giant Cell Hepatitis																																								0													122.0	120.0	121.0					8																	59410991		2203	4300	6503	SO:0001583	missense	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.118C>A	8.37:g.59410991G>T	ENSP00000301645:p.Pro40Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	P78454|Q3MIL8|Q7KZ19	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.P40T	ENST00000301645.3	37	c.118	CCDS6171.1	8	.	.	.	.	.	.	.	.	.	.	G	28.4	4.915675	0.92178	.	.	ENSG00000167910	ENST00000301645	T	0.20069	2.1	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.56891	0.2016	M	0.89478	3.035	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.62742	-0.6790	10	0.87932	D	0	-16.2677	20.2704	0.98474	0.0:0.0:1.0:0.0	.	40	P22680	CP7A1_HUMAN	T	40	ENSP00000301645:P40T	ENSP00000301645:P40T	P	-	1	0	CYP7A1	59573545	1.000000	0.71417	0.989000	0.46669	0.945000	0.59286	9.869000	0.99810	2.793000	0.96121	0.591000	0.81541	CCA	CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV		0.423	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	G	NM_000780		59410991	-1	no_errors	ENST00000301645	ensembl	human	known	70_37	missense	SNP	1.000	T
DAP3	7818	genome.wustl.edu	37	1	155701224	155701224	+	Intron	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:155701224C>G	ENST00000368336.5	+	10	1027				MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Intron|DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Intron|DAP3_ENST00000343043.3_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CATATGATACCTCACACATTT	0.333																																																	0													111.0	106.0	108.0					1																	155701224		2203	4300	6503	SO:0001627	intron_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.903+18C>G	1.37:g.155701224C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.333	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	C	NM_004632		155701224	+1	no_errors	ENST00000497433	ensembl	human	known	70_37	rna	SNP	0.000	G
DHX34	9704	genome.wustl.edu	37	19	47880373	47880373	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:47880373G>C	ENST00000328771.4	+	13	2965	c.2616G>C	c.(2614-2616)atG>atC	p.M872I		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	872					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	membrane (GO:0016020)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGACAAGATGAGCAGCAAAC	0.622																																																	0													97.0	81.0	86.0					19																	47880373		2203	4300	6503	SO:0001583	missense	9704			D50924	CCDS12700.1	19q13.3	2003-06-13	2003-06-13	2003-06-13	ENSG00000134815	ENSG00000134815		"""DEAH-boxes"""	16719	protein-coding gene	gene with protein product		615475	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 34"""	DDX34		10708517, 8590280	Standard	NM_014681		Approved	KIAA0134	uc010xyn.2	Q14147	OTTHUMG00000149959	ENST00000328771.4:c.2616G>C	19.37:g.47880373G>C	ENSP00000331907:p.Met872Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DMY8	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.M872I	ENST00000328771.4	37	c.2616	CCDS12700.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.481|8.481	0.859702|0.859702	0.17178|0.17178	.|.	.|.	ENSG00000134815|ENSG00000134815	ENST00000328771|ENST00000257252	T|.	0.02421|.	4.3|.	3.43|3.43	3.43|3.43	0.39272|0.39272	Domain of unknown function DUF1605 (1);|.	0.641491|.	0.14207|.	N|.	0.334303|.	T|.	0.37320|.	0.0999|.	L|L	0.35414|0.35414	1.06|1.06	0.28367|0.28367	N|N	0.920178|0.920178	B|.	0.19331|.	0.035|.	B|.	0.17979|.	0.02|.	T|.	0.21655|.	-1.0239|.	10|.	0.37606|.	T|.	0.19|.	-33.5822|-33.5822	10.8892|10.8892	0.46986|0.46986	0.0:0.1932:0.8068:0.0|0.0:0.1932:0.8068:0.0	.|.	872|.	Q14147|.	DHX34_HUMAN|.	I|S	872|577	ENSP00000331907:M872I|.	ENSP00000331907:M872I|.	M|X	+|+	3|2	0|2	DHX34|DHX34	52572171|52572171	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.953000|0.953000	0.61014|0.61014	4.053000|4.053000	0.57427|0.57427	1.917000|1.917000	0.55516|0.55516	0.561000|0.561000	0.74099|0.74099	ATG|TGA	DHX34	-	pfam_DUF1605		0.622	DHX34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX34	HGNC	protein_coding	OTTHUMT00000314313.3	G	NM_014681		47880373	+1	no_errors	ENST00000328771	ensembl	human	known	70_37	missense	SNP	1.000	C
DKK2	27123	genome.wustl.edu	37	4	107956608	107956608	+	Silent	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:107956608A>G	ENST00000285311.3	-	1	846	c.141T>C	c.(139-141)ccT>ccC	p.P47P	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	47					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CGGCCTGACCAGGCGTCTCCC	0.602																																																	0													70.0	73.0	72.0					4																	107956608		2203	4300	6503	SO:0001819	synonymous_variant	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.141T>C	4.37:g.107956608A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE9|B2R6S7|Q9UIU3	Silent	SNP	pfam_Dickkopf_N,superfamily_Zn2-C6_fun-type_DNA-bd	p.P47	ENST00000285311.3	37	c.141	CCDS3675.1	4																																																																																			DKK2	-	NULL		0.602	DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DKK2	HGNC	protein_coding	OTTHUMT00000253959.4	A			107956608	-1	no_errors	ENST00000285311	ensembl	human	novel	70_37	silent	SNP	0.519	G
DLG5	9231	genome.wustl.edu	37	10	79569484	79569484	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr10:79569484C>G	ENST00000372391.2	-	24	4473	c.4468G>C	c.(4468-4470)Gcg>Ccg	p.A1490P	DLG5_ENST00000459739.1_5'UTR|DLG5_ENST00000372388.2_Missense_Mutation_p.A1150P	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1490					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCATCTCCCGCAATCCTTTCA	0.512																																																	0													124.0	124.0	124.0					10																	79569484		2203	4300	6503	SO:0001583	missense	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4468G>C	10.37:g.79569484C>G	ENSP00000361467:p.Ala1490Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Missense_Mutation	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.A1490P	ENST00000372391.2	37	c.4468	CCDS7353.2	10	.	.	.	.	.	.	.	.	.	.	C	3.664	-0.068920	0.07228	.	.	ENSG00000151208	ENST00000372391;ENST00000424842;ENST00000372388	T;T;T	0.05513	3.72;3.43;3.68	5.85	-1.69	0.08186	PDZ/DHR/GLGF (1);	0.457590	0.16256	N	0.222474	T	0.01661	0.0053	N	0.01576	-0.805	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.08055	0.0;0.003	T	0.44205	-0.9343	10	0.24483	T	0.36	.	2.5493	0.04744	0.2609:0.1661:0.4268:0.1463	.	1490;1150	Q8TDM6;Q8TDM6-2	DLG5_HUMAN;.	P	1490;451;1150	ENSP00000361467:A1490P;ENSP00000394797:A451P;ENSP00000361464:A1150P	ENSP00000361464:A1150P	A	-	1	0	DLG5	79239490	0.147000	0.22687	0.006000	0.13384	0.028000	0.11728	1.214000	0.32419	0.037000	0.15575	0.655000	0.94253	GCG	DLG5	-	superfamily_PDZ		0.512	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	C			79569484	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	missense	SNP	0.022	G
DOCK1	1793	genome.wustl.edu	37	10	129231692	129231692	+	Splice_Site	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr10:129231692G>C	ENST00000280333.6	+	48	5106	c.4997G>C	c.(4996-4998)gGg>gCg	p.G1666A		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1666					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GGCTCCGACGGGTGAGTCAAG	0.597																																																	0													51.0	55.0	54.0					10																	129231692		1980	4158	6138	SO:0001630	splice_region_variant	1793			D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.4997+1G>C	10.37:g.129231692G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Z5	Missense_Mutation	SNP	pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain	p.G1666A	ENST00000280333.6	37	c.4997		10	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114680	0.37339	.	.	ENSG00000150760	ENST00000280333	T	0.03663	3.85	5.01	4.08	0.47627	.	0.061334	0.64402	N	0.000004	T	0.06050	0.0157	M	0.65498	2.005	0.80722	D	1	P;B;P	0.47762	0.9;0.414;0.9	B;B;B	0.39876	0.312;0.105;0.312	T	0.49194	-0.8965	10	0.21014	T	0.42	.	15.3148	0.74065	0.0:0.1403:0.8597:0.0	.	1666;1732;1666	B2RUU3;A8MU08;Q14185	.;.;DOCK1_HUMAN	A	1666	ENSP00000280333:G1666A	ENSP00000280333:G1666A	G	+	2	0	DOCK1	129121682	1.000000	0.71417	1.000000	0.80357	0.464000	0.32679	7.011000	0.76359	1.300000	0.44818	0.655000	0.94253	GGG	DOCK1	-	NULL		0.597	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	DOCK1	HGNC	protein_coding	OTTHUMT00000050979.2	G	NM_001380	Missense_Mutation	129231692	+1	no_errors	ENST00000280333	ensembl	human	known	70_37	missense	SNP	1.000	C
DYRK3	8444	genome.wustl.edu	37	1	206810291	206810291	+	Intron	SNP	C	C	T	rs201492506		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:206810291C>T	ENST00000367109.2	+	2	245				RP11-343H5.6_ENST00000425161.1_RNA|DYRK3_ENST00000367106.1_5'UTR|DYRK3_ENST00000489878.1_3'UTR|DYRK3_ENST00000367108.3_5'UTR	NM_003582.2	NP_003573.2	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3						erythrocyte differentiation (GO:0030218)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CACCATCCACCAGAAAATGAA	0.373																																					Melanoma(164;427 2622 26826 51707)												0													102.0	104.0	104.0					1																	206810291		2203	4300	6503	SO:0001627	intron_variant	8444			Y12735	CCDS30999.1, CCDS31000.1	1q32	2008-07-18			ENSG00000143479	ENSG00000143479	2.7.12.1		3094	protein-coding gene	gene with protein product	"""regulatory erythroid kinase"", ""dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 5"", ""protein kinase Dyrk3"""	603497				9748265	Standard	NM_003582		Approved	RED, REDK, hYAK3-2	uc001hej.3	O43781	OTTHUMG00000036339	ENST00000367109.2:c.78-704C>T	1.37:g.206810291C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT79|Q7Z752|Q9HBY6|Q9HBY7	RNA	SNP	-	NULL	ENST00000367109.2	37	NULL	CCDS30999.1	1																																																																																			DYRK3	-	-		0.373	DYRK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYRK3	HGNC	protein_coding	OTTHUMT00000088458.1	C	NM_003582		206810291	+1	no_errors	ENST00000489878	ensembl	human	known	70_37	rna	SNP	0.040	T
EEF1DP3	196549	genome.wustl.edu	37	13	32527401	32527401	+	RNA	SNP	T	T	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr13:32527401T>C	ENST00000428783.1	+	0	1101							Q658K8	EF1DL_HUMAN	eukaryotic translation elongation factor 1 delta pseudogene 3								translation elongation factor activity (GO:0003746)										ATTCAGCGTGTGGTGGAGGAC	0.592																																																	0																																												196549					13q13.1	2012-10-23			ENSG00000229715	ENSG00000229715			30486	pseudogene	pseudogene						12477932	Standard	NR_027062		Approved		uc001utu.3	Q658K8	OTTHUMG00000016691		13.37:g.32527401T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AR3	RNA	SNP	-	NULL	ENST00000428783.1	37	NULL		13																																																																																			EEF1DP3	-	-		0.592	EEF1DP3-001	KNOWN	basic	processed_transcript	EEF1DP3	HGNC	pseudogene	OTTHUMT00000044400.2	T	NR_027062		32527401	+1	no_errors	ENST00000428783	ensembl	human	known	70_37	rna	SNP	1.000	C
EML3	256364	genome.wustl.edu	37	11	62376235	62376235	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:62376235C>G	ENST00000394773.2	-	8	1279	c.972G>C	c.(970-972)caG>caC	p.Q324H	EML3_ENST00000278845.4_Missense_Mutation_p.Q325H|EML3_ENST00000529309.1_Missense_Mutation_p.Q324H|EML3_ENST00000531557.1_Missense_Mutation_p.Q107H|EML3_ENST00000438258.1_5'Flank|RP11-831H9.3_ENST00000532626.1_RNA|EML3_ENST00000494176.2_Missense_Mutation_p.Q296H	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	324						cytoplasm (GO:0005737)|microtubule (GO:0005874)				biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CTCCAGCTGTCTGTCCCGAGG	0.522																																																	0													155.0	139.0	144.0					11																	62376235		2202	4299	6501	SO:0001583	missense	256364			AK093146	CCDS8023.2	11q12.3	2013-01-10			ENSG00000149499	ENSG00000149499		"""WD repeat domain containing"""	26666	protein-coding gene	gene with protein product						15225882, 14744259	Standard	NM_153265		Approved	FLJ35827, ELP95	uc001ntu.1	Q32P44	OTTHUMG00000149817	ENST00000394773.2:c.972G>C	11.37:g.62376235C>G	ENSP00000378254:p.Gln324His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQW7|Q8NA55	Missense_Mutation	SNP	pfam_HELP,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.Q324H	ENST00000394773.2	37	c.972	CCDS8023.2	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.026728|3.026728	0.54683|0.54683	.|.	.|.	ENSG00000149499|ENSG00000149499	ENST00000394776|ENST00000394773;ENST00000278845;ENST00000531557;ENST00000494176;ENST00000529309	.|T;T;T;T;T	.|0.42131	.|1.14;1.1;0.98;0.98;0.98	5.55|5.55	5.55|5.55	0.83447|0.83447	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.75443|0.75443	0.3850|0.3850	H|H	0.97962|0.97962	4.115|4.115	0.53005|0.53005	D|D	0.999963|0.999963	.|D;D;D;D;D	.|0.89917	.|0.999;1.0;1.0;0.998;1.0	.|D;D;D;D;D	.|0.97110	.|0.999;1.0;0.989;0.996;0.991	T|T	0.82737|0.82737	-0.0309|-0.0309	5|10	.|0.87932	.|D	.|0	-20.2581|-20.2581	10.4361|10.4361	0.44437|0.44437	0.0:0.9122:0.0:0.0878|0.0:0.9122:0.0:0.0878	.|.	.|324;324;107;325;296	.|Q32P44-2;Q32P44;G3V195;B7WPE2;G3V1D0	.|.;EMAL3_HUMAN;.;.;.	H|H	319|324;325;107;296;324	.|ENSP00000378254:Q324H;ENSP00000278845:Q325H;ENSP00000433417:Q107H;ENSP00000435064:Q296H;ENSP00000434513:Q324H	.|ENSP00000278845:Q325H	D|Q	-|-	1|3	0|2	EML3|EML3	62132811|62132811	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.475000|0.475000	0.33008|0.33008	2.988000|2.988000	0.49386|0.49386	2.618000|2.618000	0.88619|0.88619	0.655000|0.655000	0.94253|0.94253	GAC|CAG	EML3	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.522	EML3-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	EML3	HGNC	protein_coding	OTTHUMT00000313432.1	C	NM_153265		62376235	-1	no_errors	ENST00000529309	ensembl	human	known	70_37	missense	SNP	1.000	G
EMR2	30817	genome.wustl.edu	37	19	14884841	14884841	+	Missense_Mutation	SNP	G	G	T	rs41360944	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:14884841G>T	ENST00000315576.3	-	4	559	c.108C>A	c.(106-108)gaC>gaA	p.D36E	EMR2_ENST00000392964.3_5'Flank|EMR2_ENST00000392967.2_Missense_Mutation_p.D36E|EMR2_ENST00000353005.1_Missense_Mutation_p.D36E|EMR2_ENST00000599423.1_5'UTR|EMR2_ENST00000353876.1_Missense_Mutation_p.D36E|EMR2_ENST00000594294.1_Missense_Mutation_p.D36E|EMR2_ENST00000346057.1_Missense_Mutation_p.D36E|EMR2_ENST00000594076.1_Missense_Mutation_p.D36E|EMR2_ENST00000392965.3_Missense_Mutation_p.D36E|EMR2_ENST00000596991.2_Missense_Mutation_p.D36E|EMR2_ENST00000595839.1_Missense_Mutation_p.D36E|EMR2_ENST00000601345.1_Missense_Mutation_p.D36E	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	36	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CACACGAGGAGTCCTGAGGGC	0.587																																																	0													127.0	117.0	121.0					19																	14884841		2203	4300	6503	SO:0001583	missense	30817			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.108C>A	19.37:g.14884841G>T	ENSP00000319883:p.Asp36Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.D36E	ENST00000315576.3	37	c.108	CCDS32935.1	19	.	.	.	.	.	.	.	.	.	.	G	11.78	1.739838	0.30865	.	.	ENSG00000127507	ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005;ENST00000360222;ENST00000392965;ENST00000392962	T;T;T;T;T;T;T	0.78364	-0.85;-0.97;-0.39;0.45;1.1;-1.17;-1.06	3.87	-7.12	0.01537	.	.	.	.	.	T	0.49029	0.1533	N	0.08118	0	0.80722	P	0.0	B;B;B;B;B;B;B	0.15473	0.0;0.001;0.009;0.013;0.001;0.003;0.001	B;B;B;B;B;B;B	0.17979	0.0;0.01;0.005;0.02;0.016;0.005;0.006	T	0.36187	-0.9758	8	0.72032	D	0.01	.	0.1596	0.00102	0.2824:0.2656:0.1832:0.2688	.	36;36;36;36;36;36;36	E7ESD7;Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;Q9UHX3;Q9UHX3-2	.;.;.;.;.;EMR2_HUMAN;.	E	36	ENSP00000319883:D36E;ENSP00000376694:D36E;ENSP00000263380:D36E;ENSP00000319454:D36E;ENSP00000319838:D36E;ENSP00000376692:D36E;ENSP00000376689:D36E	ENSP00000319883:D36E	D	-	3	2	EMR2	14745841	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-2.021000	0.01440	-1.076000	0.03125	-0.507000	0.04495	GAC	EMR2	-	smart_EG-like_dom,prints_GPCR_2_CD97		0.587	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	G			14884841	-1	no_errors	ENST00000596991	ensembl	human	known	70_37	missense	SNP	0.000	T
RP11-24M17.5	0	genome.wustl.edu	37	15	76075301	76075301	+	RNA	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:76075301C>T	ENST00000395215.3	+	0	941				RN7SL319P_ENST00000480656.2_RNA																							GGCCTTGAGTCTCCTGAGCAA	0.567																																																	0																																												0																															15.37:g.76075301C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000395215.3	37	NULL		15																																																																																			RP11-24M17.5	-	-		0.567	RP11-24M17.5-001	KNOWN	basic	processed_transcript	ENSG00000187812	Clone_based_vega_gene	pseudogene	OTTHUMT00000420501.1	C			76075301	+1	no_errors	ENST00000395215	ensembl	human	known	70_37	rna	SNP	0.961	T
SH2D6	284948	genome.wustl.edu	37	2	85661740	85661741	+	5'Flank	INS	-	-	A	rs536360058|rs532727235	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:85661740_85661741insA	ENST00000340326.2	+	0	0				SH2D6_ENST00000389938.2_Intron|SH2D6_ENST00000481426.2_Intron|Y_RNA_ENST00000384478.1_RNA	NM_198482.1	NP_940884.1	Q7Z4S9	SH2D6_HUMAN	SH2 domain containing 6											central_nervous_system(1)|lung(2)	3						tgactagacttAAAAAAAAAAA	0.475																																																	0																																										SO:0001631	upstream_gene_variant	0			AF450483	CCDS1976.1	2p11.2	2013-02-14			ENSG00000152292	ENSG00000152292		"""SH2 domain containing"""	30439	protein-coding gene	gene with protein product						12477932	Standard	NM_198482		Approved	FLJ35993	uc002spq.3	Q7Z4S9	OTTHUMG00000130176		2.37:g.85661751_85661751dupA	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND14|Q6R306	RNA	INS	-	NULL	ENST00000340326.2	37	NULL	CCDS1976.1	2																																																																																			Y_RNA	-	-		0.475	SH2D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000207207	RFAM	protein_coding	OTTHUMT00000252493.2	-	NM_198482		85661741	+1	no_errors	ENST00000384478	ensembl	human	novel	70_37	rna	INS	0.003:0.006	A
RP11-764K9.1	0	genome.wustl.edu	37	9	68400591	68400591	+	lincRNA	SNP	C	C	T	rs78537534		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:68400591C>T	ENST00000417843.2	-	0	1228																											ctcttggccccgaggaagggg	0.448																																																	0																																												0																															9.37:g.68400591C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-		0.448	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	C			68400591	-1	no_errors	ENST00000417843	ensembl	human	known	70_37	rna	SNP	0.026	T
AFF3	3899	genome.wustl.edu	37	2	100722591	100722591	+	Intron	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:100722591G>C	ENST00000317233.4	-	2	92				AFF3_ENST00000356421.2_5'Flank|AFF3_ENST00000409236.2_5'Flank|AFF3_ENST00000409579.1_5'Flank|AC092667.2_ENST00000434301.1_RNA	NM_002285.2	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GATCGGATTTGAGAATGCTCA	0.423																																																	0																																										SO:0001627	intron_variant	0			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000317233.4:c.144-546C>G	2.37:g.100722591G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	RNA	SNP	-	NULL	ENST00000317233.4	37	NULL	CCDS42723.1	2																																																																																			AC092667.2	-	-		0.423	AFF3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000230393	Clone_based_vega_gene	protein_coding		G	NM_002285		100722591	+1	no_errors	ENST00000434301	ensembl	human	known	70_37	rna	SNP	0.003	C
BNIP3P41	101059988	genome.wustl.edu	37	4	49846	49846	+	RNA	SNP	C	C	T	rs4970287	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:49846C>T	ENST00000596885.1	-	0	4																											ACTCCTGGAGCTGCTCTATCT	0.423																																																	0																																												0																															4.37:g.49846C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000596885.1	37	NULL		4																																																																																			Z95704.4	-	-		0.423	Z95704.4-002	KNOWN	basic	processed_transcript	ENSG00000248302	Clone_based_vega_gene	pseudogene	OTTHUMT00000462162.1	C			49846	-1	no_errors	ENST00000596885	ensembl	human	known	70_37	rna	SNP	0.985	T
AC004158.3	0	genome.wustl.edu	37	16	72460517	72460517	+	lincRNA	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr16:72460517G>T	ENST00000564508.1	+	0	671				AC004158.2_ENST00000561611.2_lincRNA																							GAAAACCTCAGGGAAAGATGC	0.443																																																	0																																												0																															16.37:g.72460517G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000564508.1	37	NULL		16																																																																																			AC004158.2	-	-		0.443	AC004158.3-001	KNOWN	basic	lincRNA	ENSG00000261008	Clone_based_vega_gene	lincRNA	OTTHUMT00000423200.1	G			72460517	-1	no_errors	ENST00000561611	ensembl	human	known	70_37	rna	SNP	1.000	T
TBC1D3P3	653017	genome.wustl.edu	37	17	20450493	20450493	+	lincRNA	SNP	C	C	T	rs688722		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:20450493C>T	ENST00000591705.1	+	0	1810																											ccgaaggcttcgtgtgtgact	0.498																																																	0																																												0																															17.37:g.20450493C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000591705.1	37	NULL		17																																																																																			RP11-434D2.3	-	-		0.498	RP11-434D2.3-001	KNOWN	basic	lincRNA	ENSG00000267075	Clone_based_vega_gene	lincRNA	OTTHUMT00000441761.2	C			20450493	+1	no_errors	ENST00000591705	ensembl	human	known	70_37	rna	SNP	0.132	T
ERLIN2	11160	genome.wustl.edu	37	8	37597898	37597898	+	Silent	SNP	G	G	T	rs112575270	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:37597898G>T	ENST00000276461.5	+	3	190	c.123G>T	c.(121-123)ctG>ctT	p.L41L	ERLIN2_ENST00000519638.1_Silent_p.L41L|ERLIN2_ENST00000518586.1_Silent_p.L41L|ERLIN2_ENST00000335171.6_Silent_p.L41L|ERLIN2_ENST00000397228.2_Silent_p.L41L|ERLIN2_ENST00000523107.1_Silent_p.L41L|RP11-863K10.7_ENST00000330539.1_5'Flank|ERLIN2_ENST00000523887.1_Silent_p.L41L	NM_007175.6	NP_009106.1	O94905	ERLN2_HUMAN	ER lipid raft associated 2	41					cell death (GO:0008219)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)				NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTGCCCTGCTGACTTCGACCA	0.527																																																	0													211.0	191.0	198.0					8																	37597898		2203	4300	6503	SO:0001819	synonymous_variant	11160			AY358108	CCDS6095.1, CCDS34879.1	8p11.2	2012-11-23	2007-01-26	2007-01-26	ENSG00000147475	ENSG00000147475			1356	protein-coding gene	gene with protein product		611605	"""chromosome 8 open reading frame 2"", ""SPFH domain family, member 2"""	C8orf2, SPFH2, Erlin-2		10449903, 15897872, 16835267	Standard	NM_007175		Approved	NET32, SPG18	uc003xke.4	O94905	OTTHUMG00000164005	ENST00000276461.5:c.123G>T	8.37:g.37597898G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLQ1|A8K5S9|B4DM38|D3DSW0|Q6NW21|Q86VS6|Q86W49	Silent	SNP	pfam_Band_7,smart_Band_7	p.L41	ENST00000276461.5	37	c.123	CCDS6095.1	8																																																																																			ERLIN2	-	pfam_Band_7,smart_Band_7		0.527	ERLIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLIN2	HGNC	protein_coding	OTTHUMT00000376712.2	G	NM_007175		37597898	+1	no_errors	ENST00000276461	ensembl	human	known	70_37	silent	SNP	1.000	T
FLYWCH2	114984	genome.wustl.edu	37	16	2948899	2948899	+	Intron	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr16:2948899G>A	ENST00000396958.3	+	4	702				FLYWCH2_ENST00000293981.6_Intron|FLYWCH2_ENST00000572786.1_3'UTR	NM_001142500.1|NM_138439.2	NP_001135972.1|NP_612448.1	Q96CP2	FWCH2_HUMAN	FLYWCH family member 2								poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|lung(3)|ovary(1)|skin(1)	6						CAGCGTCCCTGAGTGGCAGTC	0.587																																																	0																																										SO:0001627	intron_variant	114984			BC014089	CCDS10482.1	16p13.3	2014-02-12	2007-06-21		ENSG00000162076	ENSG00000162076			25178	protein-coding gene	gene with protein product						12477932	Standard	NM_138439		Approved		uc010uwk.2	Q96CP2	OTTHUMG00000128962	ENST00000396958.3:c.323-151G>A	16.37:g.2948899G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000396958.3	37	NULL	CCDS10482.1	16																																																																																			FLYWCH2	-	-		0.587	FLYWCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLYWCH2	HGNC	protein_coding	OTTHUMT00000250944.1	G	NM_138439		2948899	+1	no_errors	ENST00000572786	ensembl	human	putative	70_37	rna	SNP	0.000	A
FMNL1	752	genome.wustl.edu	37	17	43322670	43322670	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:43322670G>C	ENST00000331495.3	+	22	3115	c.2779G>C	c.(2779-2781)Gag>Cag	p.E927Q	CTD-2020K17.4_ENST00000589518.1_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.E927Q|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|CTD-2020K17.4_ENST00000591361.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|FMNL1_ENST00000587489.1_Missense_Mutation_p.E505Q|MAP3K14-AS1_ENST00000585346.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	927	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GCGAGGCCTAGAGTTGACACA	0.617																																					GBM(164;1247 1997 8702 11086 51972)												0													103.0	98.0	99.0					17																	43322670		2203	4300	6503	SO:0001583	missense	752			AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2779G>C	17.37:g.43322670G>C	ENSP00000329219:p.Glu927Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E927Q	ENST00000331495.3	37	c.2779	CCDS11497.1	17	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451410	0.84209	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17854	2.25;2.25	4.18	4.18	0.49190	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.34948	0.0915	M	0.66378	2.025	0.80722	D	1	D	0.55385	0.971	P	0.62089	0.898	T	0.05370	-1.0889	10	0.20519	T	0.43	.	15.5655	0.76287	0.0:0.0:1.0:0.0	.	927	O95466	FMNL_HUMAN	Q	927;927;582	ENSP00000327442:E927Q;ENSP00000329219:E927Q	ENSP00000327442:E927Q	E	+	1	0	FMNL1	40678453	1.000000	0.71417	0.989000	0.46669	0.624000	0.37722	9.546000	0.98097	2.330000	0.79161	0.289000	0.19496	GAG	FMNL1	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.617	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL1	HGNC	protein_coding	OTTHUMT00000450198.1	G	NM_005892		43322670	+1	no_errors	ENST00000328118	ensembl	human	known	70_37	missense	SNP	1.000	C
FUCA2	2519	genome.wustl.edu	37	6	143825236	143825236	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:143825236G>T	ENST00000002165.6	-	3	621	c.566C>A	c.(565-567)cCg>cAg	p.P189Q	RP1-20N2.6_ENST00000591189.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA|FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	189					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AAGGAAGAGCGGATGAAACCA	0.448																																																	0													105.0	97.0	100.0					6																	143825236		2203	4300	6503	SO:0001583	missense	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.566C>A	6.37:g.143825236G>T	ENSP00000002165:p.Pro189Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Missense_Mutation	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.P189Q	ENST00000002165.6	37	c.566	CCDS5200.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329764	0.81690	.	.	ENSG00000001036	ENST00000002165	T	0.60672	0.17	5.72	4.85	0.62838	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.77329	0.4114	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.83898	0.0288	10	0.59425	D	0.04	-16.1524	16.2119	0.82168	0.0:0.0:0.866:0.134	.	189	Q9BTY2	FUCO2_HUMAN	Q	189	ENSP00000002165:P189Q	ENSP00000002165:P189Q	P	-	2	0	FUCA2	143866929	1.000000	0.71417	0.820000	0.32676	0.895000	0.52256	7.654000	0.83653	1.394000	0.46624	0.650000	0.86243	CCG	FUCA2	-	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub		0.448	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	G	NM_032020		143825236	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	missense	SNP	0.999	T
GAA	2548	genome.wustl.edu	37	17	78086486	78086486	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:78086486G>T	ENST00000302262.3	+	13	2083	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*	GAA_ENST00000390015.3_Nonsense_Mutation_p.E622*	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	622					cardiac muscle contraction (GO:0060048)|diaphragm contraction (GO:0002086)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|heart morphogenesis (GO:0003007)|locomotory behavior (GO:0007626)|lysosome organization (GO:0007040)|maltose metabolic process (GO:0000023)|muscle cell cellular homeostasis (GO:0046716)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|regulation of the force of heart contraction (GO:0002026)|sucrose metabolic process (GO:0005985)|tissue development (GO:0009888)|vacuolar sequestering (GO:0043181)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|maltose alpha-glucosidase activity (GO:0032450)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)|Miglitol(DB00491)	GAGCTCCTGGGAGCAGCTCGC	0.692																																																	0													15.0	16.0	15.0					17																	78086486		2197	4295	6492	SO:0001587	stop_gained	2548				CCDS32760.1	17q25.2-q25.3	2014-09-17	2008-08-01				3.2.1.20		4065	protein-coding gene	gene with protein product	"""Pompe disease"", ""glycogen storage disease type II"""	606800					Standard	NM_000152		Approved		uc002jxq.3	P10253		ENST00000302262.3:c.1864G>T	17.37:g.78086486G>T	ENSP00000305692:p.Glu622*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q09GN4|Q14351|Q16302|Q8IWE7	Nonsense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.E622*	ENST00000302262.3	37	c.1864	CCDS32760.1	17	.	.	.	.	.	.	.	.	.	.	G	38	7.095939	0.98059	.	.	ENSG00000171298	ENST00000302262;ENST00000390015	.	.	.	4.97	4.97	0.65823	.	0.104424	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-35.0846	16.9643	0.86281	0.0:0.0:1.0:0.0	.	.	.	.	X	622	.	ENSP00000305692:E622X	E	+	1	0	GAA	75701081	1.000000	0.71417	1.000000	0.80357	0.194000	0.23727	3.935000	0.56560	2.270000	0.75569	0.561000	0.74099	GAG	GAA	-	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF		0.692	GAA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GAA	HGNC	protein_coding	OTTHUMT00000437441.1	G			78086486	+1	no_errors	ENST00000302262	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GCKR	2646	genome.wustl.edu	37	2	27731095	27731095	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:27731095G>C	ENST00000264717.2	+	16	1462	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q	GCKR_ENST00000424318.2_Missense_Mutation_p.E277Q	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	467	SIS 2. {ECO:0000255|PROSITE- ProRule:PRU00797}.				carbohydrate metabolic process (GO:0005975)|cellular glucose homeostasis (GO:0001678)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|negative regulation of glucokinase activity (GO:0033132)|positive regulation of glucokinase activity (GO:0033133)|protein import into nucleus, translocation (GO:0000060)|regulation of glucose transport (GO:0010827)|response to fructose (GO:0009750)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|triglyceride homeostasis (GO:0070328)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	carbohydrate binding (GO:0030246)|enzyme inhibitor activity (GO:0004857)|fructose-6-phosphate binding (GO:0070095)			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					GCTTTTCTTTGAATATGAAGG	0.493																																																	0													111.0	110.0	110.0					2																	27731095		2203	4300	6503	SO:0001583	missense	2646			Z48475	CCDS1757.1	2p23	2008-05-21	2004-05-20		ENSG00000084734	ENSG00000084734			4196	protein-coding gene	gene with protein product		600842	"""glucokinase (hexokinase 4) regulatory protein"""			9570959, 8662230	Standard	NM_001486		Approved		uc002rky.3	Q14397	OTTHUMG00000128426	ENST00000264717.2:c.1399G>C	2.37:g.27731095G>C	ENSP00000264717:p.Glu467Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C2|B4DPQ2|Q53RY6|Q99522	Missense_Mutation	SNP	NULL	p.E467Q	ENST00000264717.2	37	c.1399	CCDS1757.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	4.042|4.042	0.005447|0.005447	0.07866|0.07866	.|.	.|.	ENSG00000084734|ENSG00000084734	ENST00000264717;ENST00000424318|ENST00000411584	D;D|.	0.83755|.	-1.76;-1.76|.	3.81|3.81	1.99|1.99	0.26369|0.26369	Sugar isomerase (SIS) (1);|.	1.034630|.	0.07611|.	N|.	0.925325|.	T|T	0.32734|0.32734	0.0839|0.0839	L|L	0.36672|0.36672	1.1|1.1	0.23243|0.23243	N|N	0.998057|0.998057	B;B;B|.	0.26258|.	0.144;0.091;0.145|.	B;B;B|.	0.31812|.	0.136;0.048;0.048|.	T|T	0.21895|0.21895	-1.0232|-1.0232	10|5	0.54805|.	T|.	0.06|.	-2.3419|-2.3419	6.0241|6.0241	0.19646|0.19646	0.2435:0.0:0.7565:0.0|0.2435:0.0:0.7565:0.0	.|.	277;465;467|.	F5H1P6;A8K731;Q14397|.	.;.;GCKR_HUMAN|.	Q|F	467;277|167	ENSP00000264717:E467Q;ENSP00000409109:E277Q|.	ENSP00000264717:E467Q|.	E|L	+|+	1|3	0|2	GCKR|GCKR	27584599|27584599	0.988000|0.988000	0.35896|0.35896	0.888000|0.888000	0.34837|0.34837	0.352000|0.352000	0.29268|0.29268	2.783000|2.783000	0.47766|0.47766	0.384000|0.384000	0.24942|0.24942	-0.136000|-0.136000	0.14681|0.14681	GAA|TTG	GCKR	-	NULL		0.493	GCKR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCKR	HGNC	protein_coding	OTTHUMT00000250214.1	G	NM_001486		27731095	+1	no_errors	ENST00000264717	ensembl	human	known	70_37	missense	SNP	0.977	C
GALNT14	79623	genome.wustl.edu	37	2	31147626	31147626	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:31147626C>A	ENST00000349752.5	-	12	1854	c.1215G>T	c.(1213-1215)gaG>gaT	p.E405D	GALNT14_ENST00000486564.1_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.E372D|GALNT14_ENST00000420311.2_Missense_Mutation_p.E370D|GALNT14_ENST00000406653.1_Missense_Mutation_p.E385D|GALNT14_ENST00000324589.5_Missense_Mutation_p.E410D	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	405					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGTAGATATTCTCCAGGTACC	0.537																																																	0													95.0	83.0	87.0					2																	31147626		2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.1215G>T	2.37:g.31147626C>A	ENSP00000288988:p.Glu405Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E405D	ENST00000349752.5	37	c.1215	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	c	11.28	1.592009	0.28357	.	.	ENSG00000158089	ENST00000349752;ENST00000324589;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5;0.5	4.83	0.105	0.14535	Ricin B-related lectin (1);	0.108202	0.64402	D	0.000009	T	0.30854	0.0778	L	0.27053	0.805	0.50813	D	0.99989	B;B;B;B;B	0.09022	0.0;0.002;0.0;0.0;0.0	B;B;B;B;B	0.11329	0.001;0.006;0.001;0.001;0.0	T	0.06625	-1.0816	10	0.15952	T	0.53	.	6.1175	0.20134	0.123:0.5717:0.0:0.3053	.	370;372;410;405;385	F5H263;Q96FL9-2;Q96FL9-3;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	D	405;410;385;372;370;372	ENSP00000288988:E405D;ENSP00000314500:E410D;ENSP00000385435:E385D;ENSP00000348497:E372D;ENSP00000415514:E370D;ENSP00000406399:E372D	ENSP00000314500:E410D	E	-	3	2	GALNT14	31001130	0.624000	0.27102	0.958000	0.39756	0.805000	0.45488	-0.131000	0.10482	-0.305000	0.08831	-0.692000	0.03713	GAG	GALNT14	-	superfamily_Ricin_B_lectin		0.537	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	C	NM_024572		31147626	-1	no_errors	ENST00000349752	ensembl	human	known	70_37	missense	SNP	0.898	A
GFPT2	9945	genome.wustl.edu	37	5	179744046	179744046	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:179744046G>A	ENST00000253778.8	-	11	1140	c.971C>T	c.(970-972)gCg>gTg	p.A324V	GFPT2_ENST00000520165.1_5'UTR	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	324					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glutamine metabolic process (GO:0006541)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-N-acetylglucosamine biosynthetic process (GO:0006048)	cytosol (GO:0005829)	carbohydrate binding (GO:0030246)|glutamine-fructose-6-phosphate transaminase (isomerizing) activity (GO:0004360)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CTGCATAAACGCACTGAAGTT	0.393																																																	0													134.0	125.0	128.0					5																	179744046		1848	4095	5943	SO:0001583	missense	9945			AB016789	CCDS43411.1	5q	2008-07-18			ENSG00000131459	ENSG00000131459			4242	protein-coding gene	gene with protein product	"""glutamine: fructose-6-phosphate aminotransferase 2"""	603865				10198162	Standard	NM_005110		Approved	GFAT2	uc003mlw.1	O94808	OTTHUMG00000163442	ENST00000253778.8:c.971C>T	5.37:g.179744046G>A	ENSP00000253778:p.Ala324Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XM2|Q9BWS4	Missense_Mutation	SNP	pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans	p.A324V	ENST00000253778.8	37	c.971	CCDS43411.1	5	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212281	0.79240	.	.	ENSG00000131459	ENST00000253778	T	0.71461	-0.57	5.89	5.89	0.94794	.	0.047038	0.85682	D	0.000000	T	0.64516	0.2605	L	0.47716	1.5	0.80722	D	1	P	0.34462	0.454	B	0.26969	0.075	T	0.61232	-0.7104	9	.	.	.	-27.483	20.2566	0.98424	0.0:0.0:1.0:0.0	.	324	O94808	GFPT2_HUMAN	V	324	ENSP00000253778:A324V	.	A	-	2	0	GFPT2	179676652	1.000000	0.71417	0.432000	0.26747	0.850000	0.48378	7.890000	0.87313	2.793000	0.96121	0.561000	0.74099	GCG	GFPT2	-	tigrfam_GlmS_trans		0.393	GFPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFPT2	HGNC	protein_coding	OTTHUMT00000373444.4	G	NM_005110		179744046	-1	no_errors	ENST00000253778	ensembl	human	known	70_37	missense	SNP	0.989	A
GRK1	6011	genome.wustl.edu	37	13	114325861	114325861	+	Missense_Mutation	SNP	C	C	T	rs369158147		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr13:114325861C>T	ENST00000335678.6	+	3	1107	c.875C>T	c.(874-876)cCg>cTg	p.P292L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	292	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			TTCCCGGAGCCGCGCGCCCTC	0.607																																																	0									LEU/PRO	0,4066		0,0,2033	46.0	52.0	50.0		875	3.6	0.2	13		50	2,8368		0,2,4183	no	missense	GRK1	NM_002929.2	98	0,2,6216	TT,TC,CC		0.0239,0.0,0.0161	possibly-damaging	292/564	114325861	2,12434	2033	4185	6218	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.875C>T	13.37:g.114325861C>T	ENSP00000334876:p.Pro292Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.P292L	ENST00000335678.6	37	c.875		13	.	.	.	.	.	.	.	.	.	.	c	7.998	0.754723	0.15778	0.0	2.39E-4	ENSG00000185974	ENST00000335678	T	0.64618	-0.11	4.43	3.58	0.41010	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.171853	0.52532	D	0.000074	T	0.38904	0.1058	.	.	.	0.45914	D	0.998755	P	0.47604	0.898	B	0.27796	0.083	T	0.29852	-0.9998	9	0.45353	T	0.12	-9.1647	5.5837	0.17264	0.1957:0.7004:0.0:0.1039	.	292	Q15835	RK_HUMAN	L	292	ENSP00000334876:P292L	ENSP00000334876:P292L	P	+	2	0	GRK1	113373862	0.300000	0.24435	0.168000	0.22838	0.039000	0.13416	2.513000	0.45494	0.962000	0.38057	0.506000	0.49869	CCG	GRK1	-	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		0.607	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	C	NM_002929		114325861	+1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	0.904	T
GRM6	2916	genome.wustl.edu	37	5	178418866	178418866	+	Splice_Site	SNP	A	A	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:178418866A>C	ENST00000517717.1	-	3	760		c.e3+1		RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Splice_Site			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CCCCCAGCTCACCAGCCTCTC	0.627																																																	0													49.0	45.0	46.0					5																	178418866		2203	4300	6503	SO:0001630	splice_region_variant	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.721+1T>G	5.37:g.178418866A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e2+2	ENST00000517717.1	37	c.721+2	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	A	18.83	3.707591	0.68615	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	.	.	.	5.48	5.48	0.80851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.8421	0.63446	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	GRM6	178351472	1.000000	0.71417	1.000000	0.80357	0.729000	0.41735	7.216000	0.77974	2.217000	0.71921	0.533000	0.62120	.	GRM6	-	-		0.627	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	A		Intron	178418866	-1	no_errors	ENST00000231188	ensembl	human	known	70_37	splice_site	SNP	1.000	C
GSN	2934	genome.wustl.edu	37	9	124079435	124079435	+	Silent	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:124079435G>C	ENST00000373818.4	+	7	1047	c.978G>C	c.(976-978)ctG>ctC	p.L326L	GSN_ENST00000394353.2_Silent_p.L286L|GSN_ENST00000436847.1_Silent_p.L286L|GSN_ENST00000373807.1_Silent_p.L57L|GSN_ENST00000341272.2_Silent_p.L275L|GSN_ENST00000373823.3_Silent_p.L275L|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373808.2_Silent_p.L275L|GSN_ENST00000449733.1_Silent_p.L275L|GSN_ENST00000412819.1_Silent_p.L275L|GSN_ENST00000545652.1_Silent_p.L283L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	326					actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						AGGGGGCCCTGAAGTCAGAGG	0.577																																																	0													140.0	135.0	137.0					9																	124079435		2203	4300	6503	SO:0001819	synonymous_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.978G>C	9.37:g.124079435G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.L326	ENST00000373818.4	37	c.978	CCDS6828.1	9																																																																																			GSN	-	pfam_Gelsolin_dom,smart_Gelsolin		0.577	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	G	NM_000177		124079435	+1	no_errors	ENST00000373818	ensembl	human	known	70_37	silent	SNP	1.000	C
GUCY1A2	2977	genome.wustl.edu	37	11	106680942	106680942	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:106680942G>T	ENST00000526355.2	-	5	1937	c.1469C>A	c.(1468-1470)aCa>aAa	p.T490K	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.T511K|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.T490K	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	490					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	AAGATCCACTGTCTTCTTTTT	0.443																																																	0													122.0	125.0	124.0					11																	106680942		2201	4298	6499	SO:0001583	missense	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1469C>A	11.37:g.106680942G>T	ENSP00000431245:p.Thr490Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C4|B7ZLT5	Missense_Mutation	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.T490K	ENST00000526355.2	37	c.1469	CCDS8335.1	11	.	.	.	.	.	.	.	.	.	.	G	25.4	4.634990	0.87760	.	.	ENSG00000152402	ENST00000526355;ENST00000282249;ENST00000347596	D;D;D	0.90069	-2.61;-2.61;-2.61	5.47	5.47	0.80525	Haem NO binding associated (1);Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.46442	U	0.000290	D	0.95918	0.8671	M	0.92317	3.295	0.80722	D	1	D;D;D	0.89917	0.994;1.0;0.994	D;D;D	0.80764	0.963;0.994;0.963	D	0.96698	0.9516	10	0.87932	D	0	.	18.315	0.90217	0.0:0.0:1.0:0.0	.	511;490;490	B7ZLT5;P33402-2;P33402	.;.;GCYA2_HUMAN	K	490;490;511	ENSP00000431245:T490K;ENSP00000282249:T490K;ENSP00000344874:T511K	ENSP00000282249:T490K	T	-	2	0	GUCY1A2	106186152	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.561000	0.86390	0.650000	0.86243	ACA	GUCY1A2	-	pfam_Haem_no_assoc-bd,smart_A/G_cyclase		0.443	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	G			106680942	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	missense	SNP	1.000	T
IFNA10	3446	genome.wustl.edu	37	9	21206637	21206637	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:21206637G>C	ENST00000357374.2	-	1	505	c.460C>G	c.(460-462)Cta>Gta	p.L154V		NM_002171.1	NP_002162.1	P01566	IFN10_HUMAN	interferon, alpha 10	154					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|type I interferon receptor binding (GO:0005132)			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCTCTATTAGATAAAGAGTG	0.448																																																	0													250.0	254.0	253.0					9																	21206637		2203	4300	6503	SO:0001583	missense	3446				CCDS6499.1	9p22	2010-08-24			ENSG00000186803	ENSG00000186803		"""Interferons"""	5418	protein-coding gene	gene with protein product		147577				1385305	Standard	NM_002171		Approved	IFN-alphaC	uc003zoq.1	P01566	OTTHUMG00000019658	ENST00000357374.2:c.460C>G	9.37:g.21206637G>C	ENSP00000369566:p.Leu154Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VV13	Missense_Mutation	SNP	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta	p.L154V	ENST00000357374.2	37	c.460	CCDS6499.1	9	.	.	.	.	.	.	.	.	.	.	-	13.08	2.131215	0.37630	.	.	ENSG00000186803	ENST00000357374	T	0.37411	1.2	3.75	2.82	0.32997	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.64402	D	0.000004	T	0.67562	0.2906	H	0.96518	3.835	0.09310	N	1	D	0.76494	0.999	D	0.97110	1.0	T	0.60816	-0.7188	10	0.87932	D	0	.	9.306	0.37876	0.1154:0.0:0.8846:0.0	.	154	P01566	IFN10_HUMAN	V	154	ENSP00000369566:L154V	ENSP00000369566:L154V	L	-	1	2	IFNA10	21196637	0.501000	0.26099	0.019000	0.16419	0.015000	0.08874	1.680000	0.37607	1.806000	0.52798	0.499000	0.49734	CTA	IFNA10	-	pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta		0.448	IFNA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFNA10	HGNC	protein_coding	OTTHUMT00000051887.1	G	NM_002171		21206637	-1	no_errors	ENST00000357374	ensembl	human	known	70_37	missense	SNP	0.043	C
IGSF22	283284	genome.wustl.edu	37	11	18733675	18733675	+	Silent	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:18733675C>G	ENST00000513874.1	-	15	2491	c.2352G>C	c.(2350-2352)gtG>gtC	p.V784V	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	783	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						GTGGGTCACTCACACCTTCTG	0.537																																																	0													165.0	133.0	143.0					11																	18733675		692	1591	2283	SO:0001819	synonymous_variant	283284			AK095113	CCDS41625.1, CCDS41625.2	11p15.1	2014-06-06			ENSG00000179057	ENSG00000179057		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26750	protein-coding gene	gene with protein product							Standard	NM_173588		Approved	FLJ37794	uc009yht.2	Q8N9C0	OTTHUMG00000160502	ENST00000513874.1:c.2352G>C	11.37:g.18733675C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNA0|D6RGV7	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V784	ENST00000513874.1	37	c.2352	CCDS41625.2	11																																																																																			IGSF22	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.537	IGSF22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF22	HGNC	protein_coding	OTTHUMT00000360850.2	C	NM_173588		18733675	-1	no_errors	ENST00000513874	ensembl	human	known	70_37	silent	SNP	0.099	G
IL5	3567	genome.wustl.edu	37	5	131879168	131879168	+	Start_Codon_SNP	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:131879168C>A	ENST00000231454.1	-	1	46	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5	1					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of eosinophil differentiation (GO:0045645)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of podosome assembly (GO:0071803)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	interleukin-5 receptor binding (GO:0005137)			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	GAAGCATCCTCATGGCTCTGA	0.458											OREG0003462	type=REGULATORY REGION|Gene=IL5|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													141.0	131.0	134.0					5																	131879168		2203	4300	6503	SO:0001582	initiator_codon_variant	3567			X04688	CCDS4156.1	5q23-q31	2014-04-04	2014-04-04		ENSG00000113525	ENSG00000113525		"""Interleukins and interleukin receptors"""	6016	protein-coding gene	gene with protein product	"""interleukin-5"", ""T-cell replacing factor"", ""B cell differentiation factor I"", ""eosinophil differentiation factor"", ""colony-stimulating factor, eosinophil"""	147850	"""interleukin 5 (colony-stimulating factor, eosinophil)"""			3498940	Standard	NM_000879		Approved	IL-5, EDF, TRF	uc003kxe.1	P05113	OTTHUMG00000059496	ENST00000231454.1:c.3G>T	5.37:g.131879168C>A	ENSP00000231454:p.Met1Ile	Somatic	1591	WXS	Illumina HiSeq	Phase_IV	Q13840	Missense_Mutation	SNP	pfam_Interleukin_5,superfamily_4_helix_cytokine-like_core,prints_Interleukin_5	p.M1I	ENST00000231454.1	37	c.3	CCDS4156.1	5	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201259	0.22121	.	.	ENSG00000113525	ENST00000231454	.	.	.	5.8	4.92	0.64577	.	0.873151	0.10085	N	0.717902	T	0.42494	0.1205	.	.	.	0.18873	N	0.999982	B	0.17465	0.022	B	0.12837	0.008	T	0.39375	-0.9617	8	0.87932	D	0	-3.8452	12.943	0.58357	0.0:0.8376:0.1624:0.0	.	1	P05113	IL5_HUMAN	I	1	.	ENSP00000231454:M1I	M	-	3	0	IL5	131907067	0.818000	0.29161	0.387000	0.26183	0.018000	0.09664	0.885000	0.28227	1.439000	0.47511	0.650000	0.86243	ATG	IL5	-	NULL		0.458	IL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL5	HGNC	protein_coding	OTTHUMT00000132339.1	C	NM_000879	Missense_Mutation	131879168	-1	no_errors	ENST00000231454	ensembl	human	known	70_37	missense	SNP	0.698	A
INHBB	3625	genome.wustl.edu	37	2	121107209	121107209	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:121107209A>G	ENST00000295228.3	+	2	1029	c.983A>G	c.(982-984)tAc>tGc	p.Y328C		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	328					activin receptor signaling pathway (GO:0032924)|cell differentiation (GO:0030154)|cellular response to insulin stimulus (GO:0032869)|cellular response to leptin stimulus (GO:0044320)|cellular response to starvation (GO:0009267)|defense response (GO:0006952)|fat cell differentiation (GO:0045444)|growth (GO:0040007)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of hepatocyte growth factor biosynthetic process (GO:0048178)|negative regulation of insulin secretion (GO:0046676)|oocyte development (GO:0048599)|ovarian follicle development (GO:0001541)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|response to mechanical stimulus (GO:0009612)	extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	cytokine activity (GO:0005125)|hormone activity (GO:0005179)|host cell surface receptor binding (GO:0046789)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				ACCGGCTACTACGGGAACTAC	0.617																																																	0													70.0	68.0	69.0					2																	121107209		2203	4300	6503	SO:0001583	missense	3625				CCDS2132.1	2q14.2	2014-01-30	2007-07-30		ENSG00000163083	ENSG00000163083		"""Endogenous ligands"""	6067	protein-coding gene	gene with protein product		147390	"""inhibin, beta B (activin AB beta polypeptide)"""			3345731	Standard	NM_002193		Approved		uc002tmn.2	P09529	OTTHUMG00000131437	ENST00000295228.3:c.983A>G	2.37:g.121107209A>G	ENSP00000295228:p.Tyr328Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53T31|Q8N1D3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu	p.Y328C	ENST00000295228.3	37	c.983	CCDS2132.1	2	.	.	.	.	.	.	.	.	.	.	A	8.907	0.957829	0.18507	.	.	ENSG00000163083	ENST00000295228	D	0.83914	-1.78	4.69	3.51	0.40186	Transforming growth factor beta, conserved site (1);Transforming growth factor-beta, C-terminal (3);	0.142736	0.48286	D	0.000186	D	0.84401	0.5464	L	0.39245	1.2	0.41587	D	0.988778	D	0.62365	0.991	D	0.64506	0.926	D	0.84018	0.0352	10	0.66056	D	0.02	-22.5242	8.7203	0.34436	0.6978:0.0:0.0:0.3022	.	328	P09529	INHBB_HUMAN	C	328	ENSP00000295228:Y328C	ENSP00000295228:Y328C	Y	+	2	0	INHBB	120823679	0.998000	0.40836	0.980000	0.43619	0.037000	0.13140	3.807000	0.55591	0.907000	0.36646	-0.490000	0.04691	TAC	INHBB	-	pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu		0.617	INHBB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBB	HGNC	protein_coding	OTTHUMT00000254234.1	A			121107209	+1	no_errors	ENST00000295228	ensembl	human	known	70_37	missense	SNP	0.963	G
IPO11	51194	genome.wustl.edu	37	5	61786023	61786023	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:61786023C>G	ENST00000325324.6	+	15	1608	c.1439C>G	c.(1438-1440)cCa>cGa	p.P480R	IPO11_ENST00000409296.3_Missense_Mutation_p.P520R|KIF2A_ENST00000509663.2_Intron	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	480					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CAGCTTCTTCCAGAATTACAA	0.294																																																	0													86.0	90.0	89.0					5																	61786023		2202	4299	6501	SO:0001583	missense	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1439C>G	5.37:g.61786023C>G	ENSP00000316651:p.Pro480Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Missense_Mutation	SNP	pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.P520R	ENST00000325324.6	37	c.1559	CCDS34167.1	5	.	.	.	.	.	.	.	.	.	.	C	8.818	0.936939	0.18206	.	.	ENSG00000086200	ENST00000325324;ENST00000409296;ENST00000540553	T;T	0.54279	0.58;0.58	4.87	4.87	0.63330	Armadillo-like helical (1);Armadillo-type fold (1);	0.113759	0.56097	D	0.000026	T	0.35508	0.0934	N	0.12746	0.255	0.80722	D	1	B;B	0.12013	0.005;0.002	B;B	0.15052	0.012;0.003	T	0.15464	-1.0436	10	0.41790	T	0.15	.	14.0368	0.64649	0.0:0.8487:0.1513:0.0	.	520;480	Q9UI26-2;Q9UI26	.;IPO11_HUMAN	R	480;520;50	ENSP00000316651:P480R;ENSP00000386992:P520R	ENSP00000316651:P480R	P	+	2	0	IPO11	61821780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.695000	0.61767	2.403000	0.81681	0.650000	0.86243	CCA	IPO11	-	superfamily_ARM-type_fold		0.294	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO11	HGNC	protein_coding	OTTHUMT00000335062.1	C	NM_016338		61786023	+1	no_errors	ENST00000409296	ensembl	human	known	70_37	missense	SNP	1.000	G
IPPK	64768	genome.wustl.edu	37	9	95418824	95418824	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:95418824C>T	ENST00000287996.3	-	3	415	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	47					inositol phosphate metabolic process (GO:0043647)|inositol phosphorylation (GO:0052746)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|inositol pentakisphosphate 2-kinase activity (GO:0035299)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						TGAAATATCTCTTCCGAGGTC	0.478																																																	0													112.0	108.0	109.0					9																	95418824		2203	4300	6503	SO:0001583	missense	64768			AK023225	CCDS6699.1	9q22.31	2010-12-02	2005-10-20	2005-10-20	ENSG00000127080	ENSG00000127080			14645	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 12"""	C9orf12		12084730	Standard	NM_022755		Approved	INSP5K2, FLJ13163, IP5K, IPK1	uc004asl.1	Q9H8X2	OTTHUMG00000020231	ENST00000287996.3:c.139G>A	9.37:g.95418824C>T	ENSP00000287996:p.Glu47Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9F7|Q9H7V8	Missense_Mutation	SNP	pfam_Ins_P5_2-kin	p.E47K	ENST00000287996.3	37	c.139	CCDS6699.1	9	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155192	0.57259	.	.	ENSG00000127080	ENST00000287996	T	0.32515	1.45	4.98	4.98	0.66077	.	0.057273	0.64402	D	0.000002	T	0.35068	0.0919	L	0.41415	1.275	0.80722	D	1	P	0.48503	0.911	P	0.49752	0.621	T	0.02371	-1.1169	10	0.19147	T	0.46	-26.6434	17.4039	0.87468	0.0:1.0:0.0:0.0	.	47	Q9H8X2	IPPK_HUMAN	K	47	ENSP00000287996:E47K	ENSP00000287996:E47K	E	-	1	0	IPPK	94458645	1.000000	0.71417	0.999000	0.59377	0.258000	0.26162	3.008000	0.49544	2.481000	0.83766	0.305000	0.20034	GAG	IPPK	-	pfam_Ins_P5_2-kin		0.478	IPPK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPPK	HGNC	protein_coding	OTTHUMT00000053101.1	C	NM_022755		95418824	-1	no_errors	ENST00000287996	ensembl	human	known	70_37	missense	SNP	1.000	T
ITGA4	3676	genome.wustl.edu	37	2	182346369	182346369	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:182346369G>T	ENST00000397033.2	+	7	1229	c.799G>T	c.(799-801)Gaa>Taa	p.E267*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	267					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GCATACTACCGAAGTAGTCGG	0.373																																																	0													68.0	62.0	64.0					2																	182346369		1811	4073	5884	SO:0001587	stop_gained	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.799G>T	2.37:g.182346369G>T	ENSP00000380227:p.Glu267*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG4|Q7Z4L6	Nonsense_Mutation	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.E267*	ENST00000397033.2	37	c.799	CCDS42788.1	2	.	.	.	.	.	.	.	.	.	.	G	28.8	4.948435	0.92593	.	.	ENSG00000115232	ENST00000425522;ENST00000397033;ENST00000233573	.	.	.	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.479	0.95002	0.0:0.0:1.0:0.0	.	.	.	.	X	267	.	ENSP00000233573:E267X	E	+	1	0	ITGA4	182054614	1.000000	0.71417	0.939000	0.37840	0.010000	0.07245	6.915000	0.75770	2.589000	0.87451	0.591000	0.81541	GAA	ITGA4	-	smart_Int_alpha_beta-p,prints_Integrin_alpha		0.373	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	G			182346369	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	nonsense	SNP	0.999	T
JAKMIP1	152789	genome.wustl.edu	37	4	6042435	6042435	+	Silent	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:6042435G>A	ENST00000409021.3	-	18	2555	c.2106C>T	c.(2104-2106)ttC>ttT	p.F702F	JAKMIP1_ENST00000409371.3_Silent_p.F517F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	44					cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGCCTGCTGAACAGGTCCT	0.567																																																	0													32.0	36.0	34.0					4																	6042435		2076	4229	6305	SO:0001819	synonymous_variant	152789			AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000409021.3:c.2106C>T	4.37:g.6042435G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Silent	SNP	NULL	p.F702	ENST00000409021.3	37	c.2106	CCDS47005.1	4																																																																																			JAKMIP1	-	NULL		0.567	JAKMIP1-003	KNOWN	basic|CCDS	protein_coding	JAKMIP1	HGNC	protein_coding	OTTHUMT00000329747.1	G	NM_144720		6042435	-1	no_errors	ENST00000409021	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNK2	3776	genome.wustl.edu	37	1	215342651	215342651	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:215342651G>T	ENST00000444842.2	+	4	735	c.585G>T	c.(583-585)caG>caT	p.Q195H	KCNK2_ENST00000391895.2_Missense_Mutation_p.Q191H|KCNK2_ENST00000391894.2_Missense_Mutation_p.Q180H	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	195					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	ttggagatcagctaggcacca	0.378																																																	0													115.0	116.0	116.0					1																	215342651		2203	4300	6503	SO:0001583	missense	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.585G>T	1.37:g.215342651G>T	ENSP00000394033:p.Gln195His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK	p.Q195H	ENST00000444842.2	37	c.585	CCDS41467.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.17|12.17	1.857678|1.857678	0.32791|0.32791	.|.	.|.	ENSG00000082482|ENSG00000082482	ENST00000391895;ENST00000391894;ENST00000444842|ENST00000366948	T;T;T|.	0.29917|.	1.55;1.55;1.55|.	6.16|6.16	1.33|1.33	0.21861|0.21861	Ion transport 2 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.37945|0.37945	0.1022|0.1022	N|N	0.11131|0.11131	0.1|0.1	0.52501|0.52501	D|D	0.999955|0.999955	B;B;B|.	0.10296|.	0.0;0.003;0.003|.	B;B;B|.	0.16722|.	0.003;0.008;0.016|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|6	0.36615|0.72032	T|D	0.2|0.01	.|.	10.1191|10.1191	0.42609|0.42609	0.6775:0.0:0.3225:0.0|0.6775:0.0:0.3225:0.0	.|.	180;195;191|.	O95069-2;O95069;O95069-3|.	.;KCNK2_HUMAN;.|.	H|I	191;180;195|152	ENSP00000375765:Q191H;ENSP00000375764:Q180H;ENSP00000394033:Q195H|.	ENSP00000375764:Q180H|ENSP00000355915:S152I	Q|S	+|+	3|2	2|0	KCNK2|KCNK2	213409274|213409274	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	2.455000|2.455000	0.44988|0.44988	-0.022000|-0.022000	0.13986|0.13986	-0.295000|-0.295000	0.09555|0.09555	CAG|AGC	KCNK2	-	pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK		0.378	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK2	HGNC	protein_coding	OTTHUMT00000089856.2	G	NM_014217		215342651	+1	no_errors	ENST00000444842	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3CA	5290	genome.wustl.edu	37	3	178957772	178957772	+	3'UTR	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:178957772C>T	ENST00000263967.3	+	0	8984				KCNMB3_ENST00000486944.1_5'UTR|KCNMB3_ENST00000497599.1_3'UTR|RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha						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)			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)	GAAGTTTGGCCTGTGACTGCA	0.348		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"""	0													175.0	138.0	149.0					3																	178957772		692	1591	2283	SO:0001624	3_prime_UTR_variant	27094				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.*5620C>T	3.37:g.178957772C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CW1|Q99762	RNA	SNP	-	NULL	ENST00000263967.3	37	NULL	CCDS43171.1	3																																																																																			KCNMB3	-	-		0.348	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KCNMB3	HGNC	protein_coding	OTTHUMT00000348409.2	C			178957772	-1	no_errors	ENST00000486944	ensembl	human	putative	70_37	rna	SNP	1.000	T
KIAA1551	55196	genome.wustl.edu	37	12	32135838	32135838	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:32135838G>A	ENST00000312561.4	+	4	2363	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	KIAA1551_ENST00000535596.1_Intron	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	650																	AACTCCTTTTGCAGTGGACAA	0.418																																																	0													67.0	64.0	65.0					12																	32135838		2203	4299	6502	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.1949G>A	12.37:g.32135838G>A	ENSP00000310338:p.Cys650Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.C650Y	ENST00000312561.4	37	c.1949	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	12.03	1.816193	0.32145	.	.	ENSG00000174718	ENST00000312561;ENST00000381054	T;T	0.06608	3.99;3.28	4.7	1.15	0.20763	.	1.015890	0.07898	N	0.972257	T	0.08044	0.0201	L	0.29908	0.895	0.09310	N	1	P	0.50066	0.931	P	0.52309	0.695	T	0.37197	-0.9716	9	.	.	.	.	3.5219	0.07745	0.1064:0.1556:0.554:0.184	.	650	Q9HCM1	CL035_HUMAN	Y	650	ENSP00000310338:C650Y;ENSP00000370442:C650Y	.	C	+	2	0	C12orf35	32027105	0.000000	0.05858	0.070000	0.20053	0.014000	0.08584	-0.563000	0.05943	0.878000	0.35920	0.563000	0.77884	TGC	KIAA1551	-	NULL		0.418	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32135838	+1	no_errors	ENST00000312561	ensembl	human	known	70_37	missense	SNP	0.000	A
KLHL15	80311	genome.wustl.edu	37	X	24006341	24006341	+	Silent	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:24006341G>A	ENST00000328046.8	-	4	1767	c.1512C>T	c.(1510-1512)ttC>ttT	p.F504F		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	504					protein ubiquitination (GO:0016567)					autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CCTGAGATTCGAAAGAGGCCC	0.468																																																	0													145.0	134.0	138.0					X																	24006341		2203	4300	6503	SO:0001819	synonymous_variant	80311			AB051464	CCDS35217.1	Xp22.1-p21	2013-01-30	2013-01-30		ENSG00000174010	ENSG00000174010		"""Kelch-like"", ""BTB/POZ domain containing"""	29347	protein-coding gene	gene with protein product			"""kelch-like 15 (Drosophila)"""			11214970, 14702039	Standard	NM_030624		Approved	KIAA1677	uc004dba.4	Q96M94	OTTHUMG00000021261	ENST00000328046.8:c.1512C>T	X.37:g.24006341G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MN3|Q8NDA3|Q96BM6|Q9C0I6	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F504	ENST00000328046.8	37	c.1512	CCDS35217.1	X																																																																																			KLHL15	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.468	KLHL15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL15	HGNC	protein_coding	OTTHUMT00000056078.1	G	XM_040383		24006341	-1	no_errors	ENST00000328046	ensembl	human	known	70_37	silent	SNP	1.000	A
L1CAM	3897	genome.wustl.edu	37	X	153133907	153133907	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:153133907G>C	ENST00000370060.1	-	14	1742	c.1553C>G	c.(1552-1554)aCt>aGt	p.T518S	L1CAM_ENST00000370055.1_Missense_Mutation_p.T513S|L1CAM_ENST00000370057.3_Missense_Mutation_p.T518S|L1CAM_ENST00000361981.3_Missense_Mutation_p.T513S|L1CAM_ENST00000361699.4_Missense_Mutation_p.T518S|L1CAM_ENST00000538883.1_Missense_Mutation_p.T520S|L1CAM_ENST00000543994.1_Missense_Mutation_p.T520S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	518	Ig-like C2-type 6.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTGATCTGAGTTGCATCTGA	0.607																																																	0													106.0	111.0	109.0					X																	153133907		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.1553C>G	X.37:g.153133907G>C	ENSP00000359077:p.Thr518Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.T520S	ENST00000370060.1	37	c.1559	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	18.84	3.709009	0.68615	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699	T;T;T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05;-1.05;-1.05	5.62	5.62	0.85841	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000005	D	0.88142	0.6357	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.995;0.988;0.997	D	0.89487	0.3754	10	0.87932	D	0	.	15.9807	0.80108	0.0:0.0:1.0:0.0	.	513;518;518	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	S	518;520;518;520;513;513;518	ENSP00000359077:T518S;ENSP00000438430:T520S;ENSP00000359074:T518S;ENSP00000439645:T520S;ENSP00000354712:T513S;ENSP00000359072:T513S;ENSP00000355380:T518S	ENSP00000355380:T518S	T	-	2	0	L1CAM	152787101	1.000000	0.71417	0.996000	0.52242	0.396000	0.30629	7.392000	0.79840	2.374000	0.81015	0.529000	0.55759	ACT	L1CAM	-	pfscan_Ig-like		0.607	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153133907	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	0.998	C
LHFPL5	222662	genome.wustl.edu	37	6	35773528	35773528	+	Silent	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:35773528G>C	ENST00000373853.1	+	1	459	c.81G>C	c.(79-81)gtG>gtC	p.V27V	LHFPL5_ENST00000360215.1_Silent_p.V27V			Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5	27					auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						CCGTGGGCGTGATGTGGGGTA	0.612																																																	0													196.0	171.0	180.0					6																	35773528		2203	4300	6503	SO:0001819	synonymous_variant	222662			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000373853.1:c.81G>C	6.37:g.35773528G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX66	Silent	SNP	pfam_Lipome_HGMIC_fus_partner-like	p.V27	ENST00000373853.1	37	c.81	CCDS4812.1	6																																																																																			LHFPL5	-	pfam_Lipome_HGMIC_fus_partner-like		0.612	LHFPL5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding	OTTHUMT00000040323.1	G	NM_182548		35773528	+1	no_errors	ENST00000360215	ensembl	human	known	70_37	silent	SNP	1.000	C
LATS1	9113	genome.wustl.edu	37	6	149997435	149997435	+	Silent	SNP	A	A	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:149997435A>C	ENST00000543571.1	-	7	3391	c.2844T>G	c.(2842-2844)ccT>ccG	p.P948P	LATS1_ENST00000253339.5_Silent_p.P948P|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		CCAAGAAAGGAGGTTGTCCCA	0.338																																																	0													149.0	130.0	136.0					6																	149997435		2203	4300	6503	SO:0001819	synonymous_variant	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.2844T>G	6.37:g.149997435A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.P948	ENST00000543571.1	37	c.2844	CCDS34551.1	6																																																																																			LATS1	-	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		0.338	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	A	NM_004690		149997435	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	silent	SNP	1.000	C
LMTK3	114783	genome.wustl.edu	37	19	48994757	48994757	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:48994757C>T	ENST00000600059.1	-	13	4359	c.4132G>A	c.(4132-4134)Gag>Aag	p.E1378K	LMTK3_ENST00000270238.3_Missense_Mutation_p.E1407K			Q96Q04	LMTK3_HUMAN	lemur tyrosine kinase 3	1378	Pro-rich.				negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTGTCCCCCTCGGGGGGGGCC	0.657																																																	0													6.0	7.0	6.0					19																	48994757		1731	3887	5618	SO:0001583	missense	114783			AB067470	CCDS46136.1	19q13.33	2014-06-12				ENSG00000142235			19295	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 101"""						Standard	NM_001080434		Approved	KIAA1883, LMR3, TYKLM3, PPP1R101	uc002pjk.3	Q96Q04		ENST00000600059.1:c.4132G>A	19.37:g.48994757C>T	ENSP00000472020:p.Glu1378Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0U1	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1407K	ENST00000600059.1	37	c.4219		19	.	.	.	.	.	.	.	.	.	.	C	19.73	3.882231	0.72294	.	.	ENSG00000142235	ENST00000270238	T	0.76448	-1.02	3.49	3.49	0.39957	.	0.338535	0.23250	N	0.050256	T	0.78246	0.4253	N	0.24115	0.695	0.32638	N	0.521077	D	0.76494	0.999	D	0.68621	0.959	T	0.80944	-0.1156	10	0.41790	T	0.15	.	12.9082	0.58164	0.0:1.0:0.0:0.0	.	1378	Q96Q04	LMTK3_HUMAN	K	1407	ENSP00000270238:E1407K	ENSP00000270238:E1407K	E	-	1	0	LMTK3	53686569	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.823000	0.55715	1.977000	0.57605	0.424000	0.28305	GAG	LMTK3	-	NULL		0.657	LMTK3-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	LMTK3	HGNC	protein_coding	OTTHUMT00000466137.1	C	NM_052895		48994757	-1	no_errors	ENST00000270238	ensembl	human	known	70_37	missense	SNP	1.000	T
LOC285556	285556	genome.wustl.edu	37	4	100573672	100573672	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:100573672A>G	ENST00000511828.1	-	1	2133	c.2134T>C	c.(2134-2136)Tct>Cct	p.S712P																								TTGGTCTGAGACTTCTTGGAC	0.617																																																	0																																										SO:0001583	missense	285556																														ENST00000511828.1:c.2134T>C	4.37:g.100573672A>G	ENSP00000427555:p.Ser712Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S712P	ENST00000511828.1	37	c.2134		4	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792653	0.50102	.	.	ENSG00000248713	ENST00000511828	T	0.19669	2.13	4.66	3.46	0.39613	.	.	.	.	.	T	0.22589	0.0545	L	0.29908	0.895	.	.	.	.	.	.	.	.	.	T	0.32851	-0.9891	6	0.72032	D	0.01	.	11.2111	0.48799	0.846:0.154:0.0:0.0	.	.	.	.	P	712	ENSP00000427555:S712P	ENSP00000427555:S712P	S	-	1	0	RP11-766F14.2	100792695	0.998000	0.40836	1.000000	0.80357	0.992000	0.81027	1.232000	0.32636	0.789000	0.33779	0.533000	0.62120	TCT	RP11-766F14.2	-	NULL		0.617	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	A			100573672	-1	no_errors	ENST00000511828	ensembl	human	putative	70_37	missense	SNP	1.000	G
LPIN2	9663	genome.wustl.edu	37	18	2951060	2951060	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr18:2951060C>T	ENST00000261596.4	-	4	821	c.583G>A	c.(583-585)Gca>Aca	p.A195T	RP11-737O24.2_ENST00000581488.1_RNA|RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	195					cellular lipid metabolic process (GO:0044255)|dephosphorylation (GO:0016311)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|nucleus (GO:0005634)	phosphatidate phosphatase activity (GO:0008195)|transcription coactivator activity (GO:0003713)			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TACCGTGCTGCCTGGGCCCCC	0.532																																																	0													134.0	116.0	122.0					18																	2951060		2203	4300	6503	SO:0001583	missense	9663			D87436	CCDS11829.1	18p	2014-09-17			ENSG00000101577	ENSG00000101577			14450	protein-coding gene	gene with protein product		605519				11138012, 9039502	Standard	NM_014646		Approved	KIAA0249	uc002klo.3	Q92539	OTTHUMG00000131508	ENST00000261596.4:c.583G>A	18.37:g.2951060C>T	ENSP00000261596:p.Ala195Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD25|D3DUH3	Missense_Mutation	SNP	pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2	p.A195T	ENST00000261596.4	37	c.583	CCDS11829.1	18	.	.	.	.	.	.	.	.	.	.	C	5.355	0.250864	0.10130	.	.	ENSG00000101577	ENST00000261596;ENST00000455369	T	0.80214	-1.35	5.92	-1.21	0.09524	.	0.877676	0.10150	N	0.709700	T	0.62672	0.2447	L	0.33485	1.01	0.24583	N	0.993869	B	0.02656	0.0	B	0.04013	0.001	T	0.42258	-0.9462	10	0.13470	T	0.59	.	2.6544	0.05008	0.3263:0.3724:0.2076:0.0936	.	195	Q92539	LPIN2_HUMAN	T	195	ENSP00000261596:A195T	ENSP00000261596:A195T	A	-	1	0	LPIN2	2941060	0.000000	0.05858	0.969000	0.41365	0.021000	0.10359	-0.044000	0.12023	-0.022000	0.13986	-0.274000	0.10170	GCA	LPIN2	-	NULL		0.532	LPIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPIN2	HGNC	protein_coding	OTTHUMT00000254363.2	C	NM_014646		2951060	-1	no_errors	ENST00000261596	ensembl	human	known	70_37	missense	SNP	0.760	T
MAP3K19	80122	genome.wustl.edu	37	2	135756518	135756518	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:135756518G>A	ENST00000375845.3	-	5	394	c.364C>T	c.(364-366)Cat>Tat	p.H122Y	MAP3K19_ENST00000375844.3_Missense_Mutation_p.H122Y|MAP3K19_ENST00000392917.3_Missense_Mutation_p.H122Y|MAP3K19_ENST00000358371.4_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.H139Y|MAP3K19_ENST00000392918.3_Missense_Mutation_p.H122Y|MAP3K19_ENST00000315513.3_5'UTR	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	122							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCATTTGGATGAGAAACTGCA	0.438																																																	0													99.0	98.0	98.0					2																	135756518		2203	4300	6503	SO:0001583	missense	80122			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.364C>T	2.37:g.135756518G>A	ENSP00000365005:p.His122Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.H122Y	ENST00000375845.3	37	c.364	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	13.27	2.187181	0.38609	.	.	ENSG00000176601	ENST00000375845;ENST00000375844;ENST00000392918;ENST00000392917;ENST00000392915;ENST00000425952	T;T;T;T;T	0.70986	-0.45;-0.48;-0.53;-0.45;1.93	5.26	4.38	0.52667	.	0.400583	0.18328	N	0.144596	T	0.52419	0.1733	L	0.36672	1.1	0.58432	D	0.999999	B;B;B;B;B;B	0.30664	0.002;0.066;0.011;0.034;0.011;0.289	B;B;B;B;B;B	0.25614	0.007;0.033;0.023;0.033;0.023;0.062	T	0.47649	-0.9101	10	0.02654	T	1	.	9.67	0.40006	0.093:0.0:0.9069:0.0	.	122;122;122;139;122;122	B7ZMH9;Q56UN5-2;Q56UN5-4;A8MWG7;Q56UN5-5;Q56UN5	.;.;.;.;.;YSK4_HUMAN	Y	122;122;122;122;139;94	ENSP00000365005:H122Y;ENSP00000365004:H122Y;ENSP00000376650:H122Y;ENSP00000376649:H122Y;ENSP00000376647:H139Y	ENSP00000365004:H122Y	H	-	1	0	YSK4	135472988	0.999000	0.42202	0.224000	0.23877	0.034000	0.12701	1.821000	0.39041	1.461000	0.47929	0.655000	0.94253	CAT	MAP3K19	-	NULL		0.438	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	G	NM_025052		135756518	-1	no_errors	ENST00000375845	ensembl	human	known	70_37	missense	SNP	0.658	A
MED20	9477	genome.wustl.edu	37	6	41874892	41874892	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:41874892G>T	ENST00000265350.4	-	4	637	c.557C>A	c.(556-558)cCa>cAa	p.P186Q	MED20_ENST00000409312.1_3'UTR|MED20_ENST00000467535.1_5'UTR	NM_004275.3	NP_004266.2	Q9H944	MED20_HUMAN	mediator complex subunit 20	186					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA-directed RNA polymerase activity (GO:0003899)|RNA polymerase II transcription cofactor activity (GO:0001104)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)|pancreas(1)	5	Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000367)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GGTATCTGCTGGGCCGTAGAC	0.567																																																	0													105.0	91.0	96.0					6																	41874892		2203	4300	6503	SO:0001583	missense	9477			AF097725	CCDS4862.1	6p21.1	2008-02-05	2007-07-30	2007-07-30	ENSG00000124641	ENSG00000124641			16840	protein-coding gene	gene with protein product		612915	"""Trf (TATA binding protein-related factor)-proximal homolog (Drosophila)"""	TRFP		9933582, 15175163	Standard	NM_004275		Approved	DKFZp586D2223, PRO0213	uc011dui.3	Q9H944	OTTHUMG00000014689	ENST00000265350.4:c.557C>A	6.37:g.41874892G>T	ENSP00000265350:p.Pro186Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DE08|O95821|Q5T8J4|Q9Y429	Missense_Mutation	SNP	pfam_Mediator_Med20	p.P186Q	ENST00000265350.4	37	c.557	CCDS4862.1	6	.	.	.	.	.	.	.	.	.	.	G	34	5.338302	0.95783	.	.	ENSG00000124641	ENST00000265350	.	.	.	5.93	5.93	0.95920	.	0.050443	0.85682	D	0.000000	D	0.82504	0.5051	M	0.84846	2.72	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.83109	-0.0124	9	0.59425	D	0.04	-9.6308	19.9359	0.97142	0.0:0.0:1.0:0.0	.	186	Q9H944	MED20_HUMAN	Q	186	.	ENSP00000265350:P186Q	P	-	2	0	MED20	41982870	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.894000	0.87336	2.814000	0.96858	0.655000	0.94253	CCA	MED20	-	pfam_Mediator_Med20		0.567	MED20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED20	HGNC	protein_coding	OTTHUMT00000040539.1	G	NM_004275		41874892	-1	no_errors	ENST00000265350	ensembl	human	known	70_37	missense	SNP	1.000	T
MEGF11	84465	genome.wustl.edu	37	15	66223260	66223260	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:66223260A>G	ENST00000409699.2	-	11	1481	c.1309T>C	c.(1309-1311)Tgt>Cgt	p.C437R	MEGF11_ENST00000395625.2_Missense_Mutation_p.C362R|MEGF11_ENST00000422354.1_Missense_Mutation_p.C437R|MEGF11_ENST00000395614.1_5'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.C362R|MEGF11_ENST00000360698.4_Missense_Mutation_p.C437R			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	437					homotypic cell-cell adhesion (GO:0034109)|retina layer formation (GO:0010842)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						CCTGCTGCACAGGAAACGGCA	0.557																																																	0													81.0	57.0	65.0					15																	66223260		2201	4299	6500	SO:0001583	missense	84465			AB058677	CCDS10213.2	15q22.31	2006-03-31			ENSG00000157890	ENSG00000157890			29635	protein-coding gene	gene with protein product		612454				11347906	Standard	NM_032445		Approved	KIAA1781, DKFZp434L121	uc002apm.2	A6BM72	OTTHUMG00000133175	ENST00000409699.2:c.1309T>C	15.37:g.66223260A>G	ENSP00000386908:p.Cys437Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17R86|Q6UXS5|Q8ND91|Q96KG6	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_EMI_domain	p.C437R	ENST00000409699.2	37	c.1309	CCDS10213.2	15	.	.	.	.	.	.	.	.	.	.	A	16.43	3.120429	0.56613	.	.	ENSG00000157890	ENST00000409699;ENST00000288745;ENST00000422354;ENST00000395625;ENST00000360698;ENST00000455812	T;T;T;T;T;T	0.72835	-0.69;-0.69;-0.69;-0.69;-0.69;-0.69	5.13	5.13	0.70059	EGF-like, laminin (1);EGF-like region, conserved site (1);	0.000000	0.45867	U	0.000325	D	0.91676	0.7369	H	0.99800	4.79	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95363	0.8457	10	0.87932	D	0	.	14.961	0.71156	1.0:0.0:0.0:0.0	.	437;362	A6BM72;A6BM72-2	MEG11_HUMAN;.	R	437;362;437;362;437;141	ENSP00000386908:C437R;ENSP00000288745:C362R;ENSP00000414475:C437R;ENSP00000378987:C362R;ENSP00000353919:C437R;ENSP00000401400:C141R	ENSP00000288745:C362R	C	-	1	0	MEGF11	64010314	1.000000	0.71417	0.992000	0.48379	0.280000	0.26924	8.827000	0.92041	1.927000	0.55829	0.459000	0.35465	TGT	MEGF11	-	pfam_EGF_laminin,smart_EGF_laminin		0.557	MEGF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF11	HGNC	protein_coding	OTTHUMT00000329307.2	A	NM_032445		66223260	-1	no_errors	ENST00000409699	ensembl	human	known	70_37	missense	SNP	1.000	G
MGAM	8972	genome.wustl.edu	37	7	141708379	141708379	+	Silent	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:141708379C>A	ENST00000549489.2	+	3	296	c.201C>A	c.(199-201)acC>acA	p.T67T	MGAM_ENST00000475668.2_Silent_p.T67T	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	67	Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAACTGGTACCACACATGCTA	0.483																																																	0													83.0	79.0	80.0					7																	141708379		1866	4103	5969	SO:0001819	synonymous_variant	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.201C>A	7.37:g.141708379C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.T67	ENST00000549489.2	37	c.201	CCDS47727.1	7																																																																																			MGAM	-	NULL		0.483	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	C			141708379	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	silent	SNP	0.000	A
MTPAP	55149	genome.wustl.edu	37	10	30615518	30615518	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr10:30615518G>A	ENST00000263063.4	-	5	870	c.827C>T	c.(826-828)tCa>tTa	p.S276L	MTPAP_ENST00000358107.4_Missense_Mutation_p.S406L|MTPAP_ENST00000488290.1_5'UTR	NM_018109.3	NP_060579.3	Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	276					cell death (GO:0008219)|histone mRNA catabolic process (GO:0071044)|mRNA polyadenylation (GO:0006378)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)|protein homodimerization activity (GO:0042803)|UTP binding (GO:0002134)			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AATTCTTTCTGAAGGAACATT	0.368																																																	0													91.0	100.0	97.0					10																	30615518		2203	4300	6503	SO:0001583	missense	55149			AL122121	CCDS7165.1	10p12.1	2014-01-30	2009-01-12	2009-01-12	ENSG00000107951	ENSG00000107951			25532	protein-coding gene	gene with protein product	"""TUTase1"""	613669	"""PAP associated domain containing 1"""	PAPD1		12239557, 15769737, 15547249	Standard	NM_018109		Approved	FLJ10486, mtPAP, SPAX4	uc001iva.4	Q9NVV4	OTTHUMG00000017895	ENST00000263063.4:c.827C>T	10.37:g.30615518G>A	ENSP00000263063:p.Ser276Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRX0|Q659E3|Q6P7E5|Q9HA74	Missense_Mutation	SNP	pfam_PAP_assoc	p.S406L	ENST00000263063.4	37	c.1217	CCDS7165.1	10	.	.	.	.	.	.	.	.	.	.	G	28.8	4.949776	0.92660	.	.	ENSG00000107951	ENST00000358107;ENST00000263063;ENST00000417581	T;T;T	0.41065	3.03;3.03;1.01	5.18	5.18	0.71444	.	0.072936	0.56097	D	0.000023	T	0.63698	0.2533	M	0.69185	2.1	0.80722	D	1	D;P	0.71674	0.998;0.902	D;P	0.70716	0.97;0.714	T	0.62891	-0.6758	10	0.45353	T	0.12	-14.2753	19.0645	0.93104	0.0:0.0:1.0:0.0	.	406;276	Q9NVV4-2;Q9NVV4	.;PAPD1_HUMAN	L	406;276;211	ENSP00000350820:S406L;ENSP00000263063:S276L;ENSP00000404392:S211L	ENSP00000263063:S276L	S	-	2	0	MTPAP	30655524	1.000000	0.71417	0.986000	0.45419	0.893000	0.52053	9.597000	0.98273	2.577000	0.86979	0.467000	0.42956	TCA	MTPAP	-	NULL		0.368	MTPAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTPAP	HGNC	protein_coding	OTTHUMT00000047426.2	G	NM_018109		30615518	-1	no_errors	ENST00000358107	ensembl	human	known	70_37	missense	SNP	1.000	A
LINC01317	104355287	genome.wustl.edu	37	2	33952432	33952432	+	lincRNA	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:33952432G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							CCGCCAGGACGAAGCAGAGGG	0.637																																																	0																																												151325																															2.37:g.33952432G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-		0.637	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	G			33952432	-1	no_errors	ENST00000474610	ensembl	human	known	70_37	rna	SNP	1.000	A
NEK7	140609	genome.wustl.edu	37	1	198231733	198231733	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:198231733G>T	ENST00000367385.4	+	4	569	c.227G>T	c.(226-228)cGt>cTt	p.R76L	NEK7_ENST00000538004.1_Missense_Mutation_p.R76L	NM_133494.2	NP_598001.1	Q8TDX7	NEK7_HUMAN	NIMA-related kinase 7	76	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokinesis (GO:0000910)|protein phosphorylation (GO:0006468)|regulation of mitotic cell cycle (GO:0007346)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						GCCAAAGCACGTGCTGATTGC	0.279																																																	0													137.0	144.0	142.0					1																	198231733		2203	4291	6494	SO:0001583	missense	140609			AB062450	CCDS1394.1	1q31.3	2012-11-15	2012-11-15		ENSG00000151414	ENSG00000151414			13386	protein-coding gene	gene with protein product		606848	"""NIMA (never in mitosis gene a)-related kinase 7"""			11701951	Standard	NM_133494		Approved		uc001gun.4	Q8TDX7	OTTHUMG00000035658	ENST00000367385.4:c.227G>T	1.37:g.198231733G>T	ENSP00000356355:p.Arg76Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGT8	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_Ser-Thr/Tyr_kinase_cat_dom	p.R76L	ENST00000367385.4	37	c.227	CCDS1394.1	1	.	.	.	.	.	.	.	.	.	.	G	31	5.058305	0.93846	.	.	ENSG00000151414	ENST00000367385;ENST00000538004;ENST00000391974	T;T;T	0.66280	-0.2;-0.2;3.23	5.76	4.84	0.62591	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	N	0.20401	0.57	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	T	0.72250	-0.4348	10	0.87932	D	0	.	14.6527	0.68808	0.0706:0.0:0.9294:0.0	.	76	Q8TDX7	NEK7_HUMAN	L	76	ENSP00000356355:R76L;ENSP00000444621:R76L;ENSP00000375835:R76L	ENSP00000356355:R76L	R	+	2	0	NEK7	196498356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.198000	0.94994	1.439000	0.47511	0.650000	0.86243	CGT	NEK7	-	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		0.279	NEK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK7	HGNC	protein_coding	OTTHUMT00000086550.2	G	NM_133494		198231733	+1	no_errors	ENST00000367385	ensembl	human	known	70_37	missense	SNP	1.000	T
NFKB1	4790	genome.wustl.edu	37	4	103501695	103501695	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:103501695C>A	ENST00000505458.1	+	9	1008	c.731C>A	c.(730-732)gCc>gAc	p.A244D	NFKB1_ENST00000600343.1_Missense_Mutation_p.A64D|NFKB1_ENST00000226574.4_Missense_Mutation_p.A245D|NFKB1_ENST00000510638.1_3'UTR|NFKB1_ENST00000394820.4_Missense_Mutation_p.A244D			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	244	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|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 from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	TGAACAGAAGCCCCCAATGCA	0.433																																																	0													97.0	96.0	96.0					4																	103501695		2203	4300	6503	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.731C>A	4.37:g.103501695C>A	ENSP00000424790:p.Ala244Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	pfam_RHD,pfam_Ankyrin_rpt,pfam_Death,superfamily_p53-like_TF_DNA-bd,superfamily_Ankyrin_rpt-contain_dom,superfamily_Ig_E-set,superfamily_DEATH-like,smart_IPT_TIG_rcpt,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_RHD,prints_NF_Rel_dor,prints_Ankyrin_rpt	p.A245D	ENST00000505458.1	37	c.734	CCDS54783.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.282571	0.95489	.	.	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.43688	0.95;0.94;0.94;1.34	5.5	5.5	0.81552	Rel homology (1);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.70500	0.3231	M	0.85710	2.77	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.969	D;D;P	0.91635	0.997;0.999;0.738	T	0.75246	-0.3385	10	0.87932	D	0	.	19.4314	0.94768	0.0:1.0:0.0:0.0	.	64;244;245	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	D	245;244;244;38	ENSP00000226574:A245D;ENSP00000378297:A244D;ENSP00000424790:A244D;ENSP00000424815:A38D	ENSP00000226574:A245D	A	+	2	0	NFKB1	103720733	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.571000	0.82399	2.588000	0.87417	0.650000	0.86243	GCC	NFKB1	-	superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor		0.433	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	C			103501695	+1	no_errors	ENST00000226574	ensembl	human	known	70_37	missense	SNP	1.000	A
NLRX1	79671	genome.wustl.edu	37	11	119045734	119045734	+	Silent	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:119045734G>C	ENST00000409109.1	+	6	2009	c.1422G>C	c.(1420-1422)ctG>ctC	p.L474L	NLRX1_ENST00000409991.1_Silent_p.L474L|NLRX1_ENST00000409265.4_Silent_p.L474L|NLRX1_ENST00000292199.2_Silent_p.L474L|NLRX1_ENST00000525863.1_Silent_p.L474L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	474	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGGATGCCCTGAGGTTTTTCC	0.597																																																	0													77.0	76.0	76.0					11																	119045734		2200	4295	6495	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1422G>C	11.37:g.119045734G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.L474	ENST00000409109.1	37	c.1422	CCDS8416.1	11																																																																																			NLRX1	-	NULL		0.597	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	G	NM_170722		119045734	+1	no_errors	ENST00000292199	ensembl	human	known	70_37	silent	SNP	0.988	C
NNMT	4837	genome.wustl.edu	37	11	114183193	114183193	+	Silent	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:114183193C>A	ENST00000535401.1	+	5	1053	c.789C>A	c.(787-789)ccC>ccA	p.P263P	NNMT_ENST00000542647.1_Silent_p.P68P|NNMT_ENST00000545255.1_Silent_p.P68P|NNMT_ENST00000299964.3_Silent_p.P263P|NNMT_ENST00000541754.1_Silent_p.P68P|RP11-64D24.2_ENST00000544925.1_RNA			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	263					methylation (GO:0032259)|organ regeneration (GO:0031100)|response to drug (GO:0042493)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	nicotinamide N-methyltransferase activity (GO:0008112)			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TGAGCAGACCCCTGTGATGCC	0.478																																																	0													91.0	85.0	87.0					11																	114183193		2201	4296	6497	SO:0001819	synonymous_variant	4837			U08021	CCDS8368.1	11q23.1	2007-08-15					2.1.1.1		7861	protein-coding gene	gene with protein product		600008				8575745	Standard	NM_006169		Approved		uc001pos.1	P40261		ENST00000535401.1:c.789C>A	11.37:g.114183193C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_NNMT_TEMT_trans,pirsf_NNMT_TEMT_trans	p.P263	ENST00000535401.1	37	c.789	CCDS8368.1	11																																																																																			NNMT	-	NULL		0.478	NNMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNMT	HGNC	protein_coding	OTTHUMT00000398951.1	C	NM_006169		114183193	+1	no_errors	ENST00000299964	ensembl	human	known	70_37	silent	SNP	0.029	A
NLRX1	79671	genome.wustl.edu	37	11	119050694	119050694	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:119050694C>T	ENST00000409109.1	+	7	2551	c.1964C>T	c.(1963-1965)gCc>gTc	p.A655V	NLRX1_ENST00000409991.1_Missense_Mutation_p.A655V|NLRX1_ENST00000409265.4_Missense_Mutation_p.A655V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A655V|NLRX1_ENST00000525863.1_Missense_Mutation_p.A655V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	655	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGGAGAATGCCCAGGCCATC	0.592																																																	0													29.0	31.0	30.0					11																	119050694		2200	4294	6494	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.1964C>T	11.37:g.119050694C>T	ENSP00000387334:p.Ala655Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.A655V	ENST00000409109.1	37	c.1964	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	18.25	3.582319	0.65992	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.70869	-0.42;-0.42;-0.52;-0.42;-0.52	5.33	5.33	0.75918	.	0.149175	0.47093	D	0.000253	T	0.66277	0.2773	N	0.24115	0.695	0.44652	D	0.997636	P;P	0.51351	0.944;0.819	P;B	0.48270	0.572;0.254	T	0.66340	-0.5948	10	0.35671	T	0.21	.	19.0214	0.92917	0.0:1.0:0.0:0.0	.	655;655	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	V	655	ENSP00000386851:A655V;ENSP00000292199:A655V;ENSP00000386858:A655V;ENSP00000387334:A655V;ENSP00000433442:A655V	ENSP00000292199:A655V	A	+	2	0	NLRX1	118555904	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.164000	0.77533	2.503000	0.84419	0.561000	0.74099	GCC	NLRX1	-	NULL		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119050694	+1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	1.000	T
NOVA1	4857	genome.wustl.edu	37	14	27018905	27018905	+	5'UTR	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:27018905G>C	ENST00000267422.7	-	0	362				NOVA1_ENST00000465357.2_Intron|NOVA1_ENST00000539517.2_Intron|NOVA1_ENST00000551754.1_Intron|NOVA1_ENST00000547619.1_Intron|NOVA1_ENST00000574031.1_Intron|NOVA1_ENST00000344429.5_Intron			P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1						locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AGTACTCCTAGTCAGTTTCAC	0.433																																																	0																																										SO:0001623	5_prime_UTR_variant	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000267422.7:c.-106C>G	14.37:g.27018905G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfscan_KH_dom_type_1	p.D121E	ENST00000267422.7	37	c.363		14																																																																																			NOVA1	-	NULL		0.433	NOVA1-201	KNOWN	basic	protein_coding	NOVA1	HGNC	protein_coding		G	NM_006491		27018905	-1	no_errors	ENST00000483536	ensembl	human	known	70_37	missense	SNP	1.000	C
NPIPA1	9284	genome.wustl.edu	37	16	15024568	15024568	+	3'UTR	SNP	A	A	G	rs62038514		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr16:15024568A>G	ENST00000472413.1	+	0	3033							Q9UND3	NPIA1_HUMAN	nuclear pore complex interacting protein family, member A1						mRNA transport (GO:0051028)|protein transport (GO:0015031)	nuclear pore (GO:0005643)											CGCCTTCGGCACCAGCCTCTT	0.682																																																	0																																										SO:0001624	3_prime_UTR_variant	9284			AC002045	CCDS10557.1	16p13.11	2013-06-11	2013-06-11	2013-06-11	ENSG00000183426	ENSG00000183426			7909	protein-coding gene	gene with protein product		606406	"""nuclear pore complex interacting protein"""	NPIP		11586358, 18055785	Standard	NM_006985		Approved	morpheus	uc002dcy.4	Q9UND3	OTTHUMG00000090663	ENST00000472413.1:c.*3030A>G	16.37:g.15024568A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O15102	RNA	SNP	-	NULL	ENST00000472413.1	37	NULL		16																																																																																			NPIP	-	-		0.682	NPIPA1-002	KNOWN	basic|readthrough_transcript	processed_transcript	NPIP	HGNC	protein_coding	OTTHUMT00000207327.1	A	NM_006985		15024568	+1	no_errors	ENST00000472413	ensembl	human	known	70_37	rna	SNP	1.000	G
OR5M8	219484	genome.wustl.edu	37	11	56258761	56258761	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:56258761A>G	ENST00000327216.2	-	1	110	c.86T>C	c.(85-87)cTg>cCg	p.L29P		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	29						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GGCCAGAAACAGCGTGAAGAG	0.512																																																	0													99.0	102.0	101.0					11																	56258761		2201	4296	6497	SO:0001583	missense	219484			AB065744	CCDS31533.1	11q11	2012-08-09			ENSG00000181371	ENSG00000181371		"""GPCR / Class A : Olfactory receptors"""	14846	protein-coding gene	gene with protein product							Standard	NM_001005282		Approved		uc001nix.1	Q8NGP6	OTTHUMG00000166877	ENST00000327216.2:c.86T>C	11.37:g.56258761A>G	ENSP00000323354:p.Leu29Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNM5|Q6IEW3|Q96RB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L29P	ENST00000327216.2	37	c.86	CCDS31533.1	11	.	.	.	.	.	.	.	.	.	.	A	18.83	3.706954	0.68615	.	.	ENSG00000181371	ENST00000327216	T	0.17691	2.26	4.13	4.13	0.48395	.	0.000000	0.27151	U	0.020682	T	0.31949	0.0813	M	0.69463	2.115	0.27160	N	0.96119	D	0.55605	0.972	P	0.55871	0.786	T	0.09975	-1.0650	10	0.87932	D	0	-5.0028	11.5418	0.50672	1.0:0.0:0.0:0.0	.	29	Q8NGP6	OR5M8_HUMAN	P	29	ENSP00000323354:L29P	ENSP00000323354:L29P	L	-	2	0	OR5M8	56015337	0.134000	0.22483	0.064000	0.19789	0.051000	0.14879	4.058000	0.57463	1.658000	0.50742	0.440000	0.28878	CTG	OR5M8	-	prints_GPCR_Rhodpsn		0.512	OR5M8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M8	HGNC	protein_coding	OTTHUMT00000391641.1	A	NM_001005282		56258761	-1	no_errors	ENST00000327216	ensembl	human	known	70_37	missense	SNP	0.062	G
NXF1	10482	genome.wustl.edu	37	11	62567871	62567871	+	Silent	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:62567871G>T	ENST00000532297.1	-	11	1623	c.994C>A	c.(994-996)Cga>Aga	p.R332R	NXF1_ENST00000531709.2_Silent_p.R332R|NXF1_ENST00000531131.1_Silent_p.R195R|NXF1_ENST00000294172.2_Silent_p.R332R|NXF1_ENST00000439713.2_Silent_p.R332R			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	332					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTGGTCTCGGAAGGTGTCA	0.567																																																	0													161.0	112.0	129.0					11																	62567871		2201	4299	6500	SO:0001819	synonymous_variant	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.994C>A	11.37:g.62567871G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E269|Q99799|Q9UQL2	Silent	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.R332	ENST00000532297.1	37	c.994	CCDS8037.1	11																																																																																			NXF1	-	NULL		0.567	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	G	NM_006362		62567871	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	silent	SNP	0.998	T
OS9	10956	genome.wustl.edu	37	12	58088581	58088581	+	Missense_Mutation	SNP	T	T	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:58088581T>A	ENST00000315970.7	+	2	252	c.211T>A	c.(211-213)Tat>Aat	p.Y71N	OS9_ENST00000413095.2_Missense_Mutation_p.Y71N|OS9_ENST00000552285.1_Missense_Mutation_p.Y71N|OS9_ENST00000389146.6_Missense_Mutation_p.Y71N|OS9_ENST00000257966.8_Missense_Mutation_p.Y71N|OS9_ENST00000389142.5_Missense_Mutation_p.Y71N|OS9_ENST00000551035.1_Missense_Mutation_p.Y71N|RP11-571M6.7_ENST00000549477.1_RNA|OS9_ENST00000435406.2_Missense_Mutation_p.Y71N|OS9_ENST00000439210.2_Intron	NM_001017958.2|NM_006812.3	NP_001017958.1|NP_006803.1	Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin	71					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein retention in ER lumen (GO:0006621)|protein targeting (GO:0006605)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum lumen (GO:0005788)|Hrd1p ubiquitin ligase complex (GO:0000836)	carbohydrate binding (GO:0030246)|glycoprotein binding (GO:0001948)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CAAACAGCGCTATGAGTGTCG	0.557																																																	0													100.0	87.0	92.0					12																	58088581		2203	4300	6503	SO:0001583	missense	10956			AB002806	CCDS31843.1, CCDS31844.1, CCDS31845.1, CCDS31846.1, CCDS58246.1, CCDS58247.1, CCDS58248.1, CCDS58249.1	12q13	2009-08-26	2009-08-26						16994	protein-coding gene	gene with protein product	"""endoplasmic reticulum lectin 2"", ""erlectin 2"""	609677				8634085, 9498564, 19346256, 18264092	Standard	NM_006812		Approved	OS-9, ERLEC2	uc001spj.3	Q13438	OTTHUMG00000170284	ENST00000315970.7:c.211T>A	12.37:g.58088581T>A	ENSP00000318165:p.Tyr71Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDD1|A6NFR7|A6NLB2|A8K5Q9|B4DE28|B4DPX1|B4E1I6|E7ENT8|E7EW91|F8VUH2|G3XA88|O00579|Q6IBL2|Q8IZ58|Q9BW99	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.Y71N	ENST00000315970.7	37	c.211	CCDS31843.1	12	.	.	.	.	.	.	.	.	.	.	T	21.4	4.140052	0.77775	.	.	ENSG00000135506	ENST00000552285;ENST00000315970;ENST00000547079;ENST00000389146;ENST00000413095;ENST00000551035;ENST00000257966;ENST00000435406;ENST00000550372;ENST00000389142	T;T;T;T;T;T;T;T;T	0.63744	0.55;0.55;-0.06;0.52;0.37;0.89;0.56;0.87;0.49	4.88	4.88	0.63580	.	0.126644	0.56097	D	0.000036	T	0.69663	0.3136	L	0.34521	1.04	0.80722	D	1	D;D;P;P;P;P;B	0.89917	1.0;0.999;0.948;0.651;0.914;0.942;0.44	D;D;P;B;P;P;B	0.91635	0.999;0.996;0.861;0.273;0.729;0.526;0.147	T	0.73350	-0.4010	10	0.87932	D	0	.	13.6134	0.62092	0.0:0.0:0.0:1.0	.	71;71;71;71;71;71;71	F8VUH2;B4E321;G3XA88;E9PEY5;Q9BW99;A6NLB2;Q13438	.;.;.;.;.;.;OS9_HUMAN	N	71	ENSP00000450010:Y71N;ENSP00000318165:Y71N;ENSP00000447031:Y71N;ENSP00000373798:Y71N;ENSP00000413112:Y71N;ENSP00000447866:Y71N;ENSP00000257966:Y71N;ENSP00000389632:Y71N;ENSP00000373794:Y71N	ENSP00000257966:Y71N	Y	+	1	0	OS9	56374848	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	6.491000	0.73649	2.051000	0.60960	0.260000	0.18958	TAT	OS9	-	NULL		0.557	OS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OS9	HGNC	protein_coding	OTTHUMT00000408344.1	T	NM_006812		58088581	+1	no_errors	ENST00000315970	ensembl	human	known	70_37	missense	SNP	1.000	A
PADI1	29943	genome.wustl.edu	37	1	17548870	17548870	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:17548870A>G	ENST00000375471.4	+	2	270	c.178A>G	c.(178-180)Aaa>Gaa	p.K60E		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	60					protein citrullination (GO:0018101)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	CACACGTGTGAAAGAGCCCAT	0.547																																					Esophageal Squamous(80;414 1257 4580 27746 50832)												0													136.0	127.0	130.0					1																	17548870		2203	4300	6503	SO:0001583	missense	29943			AB033768	CCDS178.1	1p36.13	2008-07-18			ENSG00000142623	ENSG00000142623	3.5.3.15	"""Peptidyl arginine deiminases"""	18367	protein-coding gene	gene with protein product	"""peptidylarginine deiminase type I"", ""protein-arginine deiminase type-1"", ""hPAD-colony 10"""	607934				12416996	Standard	NM_013358		Approved	HPAD10, PDI1, PDI, PAD1	uc001bah.1	Q9ULC6	OTTHUMG00000002294	ENST00000375471.4:c.178A>G	1.37:g.17548870A>G	ENSP00000364620:p.Lys60Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4K6|Q70SX6	Missense_Mutation	SNP	pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub	p.K60E	ENST00000375471.4	37	c.178	CCDS178.1	1	.	.	.	.	.	.	.	.	.	.	a	0.339	-0.951428	0.02285	.	.	ENSG00000142623	ENST00000375471	T	0.08282	3.11	3.87	-0.109	0.13584	Cupredoxin (1);Protein-arginine deiminase (PAD) N-terminal (1);	1.303520	0.05874	U	0.625233	T	0.05547	0.0146	L	0.27053	0.805	0.25768	N	0.984872	B	0.16396	0.017	B	0.17433	0.018	T	0.45264	-0.9273	10	0.15499	T	0.54	1.069	3.3067	0.07002	0.5385:0.2102:0.2513:0.0	.	60	Q9ULC6	PADI1_HUMAN	E	60	ENSP00000364620:K60E	ENSP00000364620:K60E	K	+	1	0	PADI1	17421457	0.075000	0.21258	0.090000	0.20809	0.018000	0.09664	0.095000	0.15127	-0.227000	0.09884	0.255000	0.18592	AAA	PADI1	-	pfam_PAD_N,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub		0.547	PADI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PADI1	HGNC	protein_coding	OTTHUMT00000006621.1	A	NM_013358		17548870	+1	no_errors	ENST00000375471	ensembl	human	known	70_37	missense	SNP	0.256	G
PARD3B	117583	genome.wustl.edu	37	2	206036980	206036980	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr2:206036980G>T	ENST00000406610.2	+	12	1873	c.1666G>T	c.(1666-1668)Gaa>Taa	p.E556*	PARD3B_ENST00000349953.3_Nonsense_Mutation_p.E556*|PARD3B_ENST00000462231.1_Nonsense_Mutation_p.E556*|PARD3B_ENST00000351153.1_Nonsense_Mutation_p.E556*|PARD3B_ENST00000358768.2_Nonsense_Mutation_p.E494*	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	556	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AGTTAATGGGGAATCTCTTTT	0.443																																																	0													138.0	131.0	133.0					2																	206036980		1925	4140	6065	SO:0001587	stop_gained	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.1666G>T	2.37:g.206036980G>T	ENSP00000385848:p.Glu556*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Nonsense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E556*	ENST00000406610.2	37	c.1666		2	.	.	.	.	.	.	.	.	.	.	G	38	7.079289	0.98048	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	.	19.733	0.96192	0.0:0.0:1.0:0.0	.	.	.	.	X	556;494;556;556	.	ENSP00000340280:E556X	E	+	1	0	PARD3B	205745225	1.000000	0.71417	1.000000	0.80357	0.841000	0.47740	9.476000	0.97823	2.665000	0.90641	0.585000	0.79938	GAA	PARD3B	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.443	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206036980	+1	no_errors	ENST00000406610	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PCDHGA8	9708	genome.wustl.edu	37	5	140772400	140772400	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:140772400G>A	ENST00000398604.2	+	1	20	c.20G>A	c.(19-21)cGc>cAc	p.R7H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	7					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACAGAGTCGCCCCAGACGC	0.552																																																	0													12.0	15.0	14.0					5																	140772400		2087	4244	6331	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.20G>A	5.37:g.140772400G>A	ENSP00000381605:p.Arg7His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R7H	ENST00000398604.2	37	c.20	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	9.118	1.008141	0.19199	.	.	ENSG00000253767	ENST00000398604	T	0.48522	0.81	4.87	-8.68	0.00859	.	.	.	.	.	T	0.31575	0.0801	L	0.56124	1.755	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.10450	0.002;0.005	T	0.28004	-1.0057	9	0.13470	T	0.59	.	6.6638	0.23029	0.1655:0.0:0.4282:0.4063	.	7;7	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	H	7	ENSP00000381605:R7H	ENSP00000381605:R7H	R	+	2	0	PCDHGA8	140752584	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.348000	0.01094	-1.046000	0.03246	-0.857000	0.03018	CGC	PCDHGA8	-	NULL		0.552	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	G	NM_032088		140772400	+1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	0.000	A
PLXNA1	5361	genome.wustl.edu	37	3	126723998	126723998	+	Silent	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:126723998C>T	ENST00000393409.2	+	6	1809	c.1809C>T	c.(1807-1809)ttC>ttT	p.F603F	PLXNA1_ENST00000251772.4_Silent_p.F580F	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	603					axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCGAGGACTTCACGGAATCTG	0.677																																																	0													55.0	44.0	48.0					3																	126723998		2200	4298	6498	SO:0001819	synonymous_variant	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1809C>T	3.37:g.126723998C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.F603	ENST00000393409.2	37	c.1809	CCDS33847.2	3																																																																																			PLXNA1	-	NULL		0.677	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	C	NM_032242		126723998	+1	no_errors	ENST00000393409	ensembl	human	known	70_37	silent	SNP	0.998	T
PIK3CA	5290	genome.wustl.edu	37	3	178927432	178927432	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:178927432G>A	ENST00000263967.3	+	7	1352	c.1195G>A	c.(1195-1197)Gct>Act	p.A399T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	399	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				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)			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)	TCTTCCTCGTGCTGCTCGACT	0.338		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"""	0													208.0	197.0	200.0					3																	178927432		1872	4110	5982	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.1195G>A	3.37:g.178927432G>A	ENSP00000263967:p.Ala399Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	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.A399T	ENST00000263967.3	37	c.1195	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.039077	0.75617	.	.	ENSG00000121879	ENST00000263967	T	0.69926	-0.44	5.16	5.16	0.70880	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.054669	0.64402	D	0.000001	T	0.55705	0.1937	N	0.24115	0.695	0.80722	D	1	B	0.28178	0.202	B	0.31390	0.129	T	0.51293	-0.8724	10	0.19147	T	0.46	-3.8168	18.6468	0.91413	0.0:0.0:1.0:0.0	.	399	P42336	PK3CA_HUMAN	T	399	ENSP00000263967:A399T	ENSP00000263967:A399T	A	+	1	0	PIK3CA	180410126	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.163000	0.71880	2.423000	0.82170	0.467000	0.42956	GCT	PIK3CA	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.338	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178927432	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PMP2	5375	genome.wustl.edu	37	8	82357088	82357088	+	Missense_Mutation	SNP	T	T	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:82357088T>A	ENST00000256103.2	-	2	346	c.210A>T	c.(208-210)gaA>gaT	p.E70D	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Intron	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	70					membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	cholesterol binding (GO:0015485)|fatty acid binding (GO:0005504)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TTTCTTCAAATTCCTGGCCTA	0.393																																																	0													131.0	129.0	130.0					8																	82357088		2203	4300	6503	SO:0001583	missense	5375			X62167	CCDS6229.1	8q21.3-q22.1	2013-03-01			ENSG00000147588	ENSG00000147588		"""Fatty acid binding protein family"""	9117	protein-coding gene	gene with protein product		170715				1720307, 8288226	Standard	NM_002677		Approved	MP2, FABP8, M-FABP	uc003ycb.1	P02689	OTTHUMG00000164600	ENST00000256103.2:c.210A>T	8.37:g.82357088T>A	ENSP00000256103:p.Glu70Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHL4	Missense_Mutation	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd	p.E70D	ENST00000256103.2	37	c.210	CCDS6229.1	8	.	.	.	.	.	.	.	.	.	.	T	23.2	4.383356	0.82792	.	.	ENSG00000147588	ENST00000256103	T	0.58060	0.36	5.68	0.801	0.18679	Calycin-like (1);Cytosolic fatty-acid binding (1);Lipocalin/cytosolic fatty-acid binding protein domain (1);Calycin (1);	0.198791	0.51477	D	0.000084	T	0.70701	0.3254	H	0.96048	3.76	0.80722	D	1	P	0.36378	0.55	P	0.47299	0.543	T	0.73119	-0.4083	10	0.72032	D	0.01	.	9.5163	0.39106	0.0:0.4821:0.0:0.5179	.	70	P02689	MYP2_HUMAN	D	70	ENSP00000256103:E70D	ENSP00000256103:E70D	E	-	3	2	PMP2	82519643	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.931000	0.28871	0.119000	0.18210	0.477000	0.44152	GAA	PMP2	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd		0.393	PMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMP2	HGNC	protein_coding	OTTHUMT00000379365.1	T	NM_002677		82357088	-1	no_errors	ENST00000256103	ensembl	human	known	70_37	missense	SNP	1.000	A
POLG	5428	genome.wustl.edu	37	15	89864364	89864364	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:89864364C>A	ENST00000268124.5	-	17	3059	c.2726G>T	c.(2725-2727)gGc>gTc	p.G909V	POLG_ENST00000442287.2_Missense_Mutation_p.G909V	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	909					aging (GO:0007568)|base-excision repair, gap-filling (GO:0006287)|cell death (GO:0008219)|DNA metabolic process (GO:0006259)|DNA-dependent DNA replication (GO:0006261)|mitochondrial DNA replication (GO:0006264)	extracellular vesicular exosome (GO:0070062)|gamma DNA polymerase complex (GO:0005760)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|exonuclease activity (GO:0004527)|protease binding (GO:0002020)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			ACCATGCATGCCGGCAAAGTG	0.587								DNA polymerases (catalytic subunits)																													Colon(73;648 1203 11348 18386 27782)												0													74.0	82.0	79.0					15																	89864364		2200	4299	6499	SO:0001583	missense	5428			X98093	CCDS10350.1	15q24	2014-09-17			ENSG00000140521	ENSG00000140521		"""DNA polymerases"""	9179	protein-coding gene	gene with protein product		174763				9465903	Standard	NM_002693		Approved	POLG1, POLGA	uc002bnr.4	P54098	OTTHUMG00000149646	ENST00000268124.5:c.2726G>T	15.37:g.89864364C>A	ENSP00000268124:p.Gly909Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFM2|Q92515	Missense_Mutation	SNP	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt	p.G909V	ENST00000268124.5	37	c.2726	CCDS10350.1	15	.	.	.	.	.	.	.	.	.	.	C	25.3	4.627217	0.87560	.	.	ENSG00000140521	ENST00000268124;ENST00000442287	D;D	0.96522	-4.04;-4.04	5.24	5.24	0.73138	DNA-directed DNA polymerase, family A, palm domain (2);	0.104921	0.64402	D	0.000004	D	0.98018	0.9347	M	0.82716	2.605	0.80722	D	1	D	0.56968	0.978	D	0.63283	0.913	D	0.98701	1.0700	10	0.66056	D	0.02	-25.4374	18.8187	0.92088	0.0:1.0:0.0:0.0	.	909	P54098	DPOG1_HUMAN	V	909	ENSP00000268124:G909V;ENSP00000399851:G909V	ENSP00000268124:G909V	G	-	2	0	POLG	87665368	1.000000	0.71417	0.996000	0.52242	0.991000	0.79684	7.476000	0.81055	2.448000	0.82819	0.655000	0.94253	GGC	POLG	-	pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom		0.587	POLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLG	HGNC	protein_coding	OTTHUMT00000312854.2	C	NM_002693		89864364	-1	no_errors	ENST00000268124	ensembl	human	known	70_37	missense	SNP	1.000	A
POLR1D	51082	genome.wustl.edu	37	13	28240167	28240167	+	3'UTR	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr13:28240167G>A	ENST00000399697.3	+	0	564				POLR1D_ENST00000465887.1_3'UTR	NM_001206559.1|NM_152705.2	NP_001193488.1|NP_689918.1	Q9Y2S0	RPAC2_HUMAN	polymerase (RNA) I polypeptide D, 16kDa						gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			endometrium(1)|large_intestine(1)|lung(4)|stomach(2)	8		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0758)|OV - Ovarian serous cystadenocarcinoma(117;0.1)|Epithelial(112;0.213)		GGCCTGAGCTGGCAGGGCAAA	0.577																																																	0																																										SO:0001624	3_prime_UTR_variant	51082			AF077044, BC018528	CCDS9324.1, CCDS9325.1, CCDS73555.1	13q12.2	2013-01-21			ENSG00000186184	ENSG00000186184		"""RNA polymerase subunits"""	20422	protein-coding gene	gene with protein product		613715				11042152, 12391170	Standard	NM_015972		Approved	RPAC2, RPA16, RPO1-3, RPA9, MGC9850	uc001urp.3	Q9Y2S0	OTTHUMG00000016635	ENST00000399697.3:c.*77G>A	13.37:g.28240167G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBX2|Q96BR3	RNA	SNP	-	NULL	ENST00000399697.3	37	NULL	CCDS9324.1	13																																																																																			POLR1D	-	-		0.577	POLR1D-004	NOVEL	basic|appris_candidate|CCDS	protein_coding	POLR1D	HGNC	protein_coding	OTTHUMT00000044306.1	G	NM_015972, NM_152705		28240167	+1	no_errors	ENST00000465887	ensembl	human	known	70_37	rna	SNP	0.002	A
POM121L2	94026	genome.wustl.edu	37	6	27279745	27279745	+	Missense_Mutation	SNP	T	T	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:27279745T>C	ENST00000444565.1	-	1	204	c.205A>G	c.(205-207)Acg>Gcg	p.T69A	POM121L2_ENST00000377451.2_Missense_Mutation_p.T69A	NM_033482.3	NP_258443.2	Q96KW2	P12L2_HUMAN	POM121 transmembrane nucleoporin-like 2	69										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|skin(1)	7						GCCAGCCACGTGGTTGGATTG	0.592																																																	0													19.0	22.0	21.0					6																	27279745		692	1591	2283	SO:0001583	missense	94026			AL021808	CCDS59497.1	6p21.3	2012-03-13	2012-03-13		ENSG00000158553	ENSG00000158553			13973	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 2 (rat)"", ""POM121 membrane glycoprotein-like 2"""				Standard	NM_033482		Approved	POM121-L	uc011dku.1	Q96KW2	OTTHUMG00000014475	ENST00000444565.1:c.205A>G	6.37:g.27279745T>C	ENSP00000392726:p.Thr69Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1I7	Missense_Mutation	SNP	NULL	p.T69A	ENST00000444565.1	37	c.205	CCDS59497.1	6	.	.	.	.	.	.	.	.	.	.	T	5.794	0.330806	0.10956	.	.	ENSG00000158553	ENST00000377451;ENST00000444565	T;T	0.13420	2.59;2.62	3.47	-2.36	0.06663	.	1.184350	0.06688	N	0.769073	T	0.01061	0.0035	N	0.04508	-0.205	0.09310	N	1	B	0.13594	0.008	B	0.06405	0.002	T	0.45571	-0.9252	10	0.09338	T	0.73	.	2.6455	0.04983	0.3567:0.252:0.0:0.3913	.	69	C9J1I7	.	A	69	ENSP00000366671:T69A;ENSP00000392726:T69A	ENSP00000366671:T69A	T	-	1	0	POM121L2	27387724	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-2.085000	0.01362	-0.533000	0.06323	0.459000	0.35465	ACG	POM121L2	-	NULL		0.592	POM121L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L2	HGNC	protein_coding	OTTHUMT00000040143.2	T	NM_033482		27279745	-1	no_errors	ENST00000444565	ensembl	human	known	70_37	missense	SNP	0.000	C
PRKAG2	51422	genome.wustl.edu	37	7	151478481	151478481	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:151478481C>T	ENST00000287878.4	-	3	727	c.223G>A	c.(223-225)Ggg>Agg	p.G75R	PRKAG2_ENST00000392801.2_Missense_Mutation_p.G31R|PRKAG2_ENST00000461529.1_5'UTR	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	75					ATP biosynthetic process (GO:0006754)|carnitine shuttle (GO:0006853)|cell cycle arrest (GO:0007050)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|glycogen metabolic process (GO:0005977)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase activity (GO:0045860)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid metabolic process (GO:0019217)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose import (GO:0046324)|regulation of glycolytic process (GO:0006110)|small molecule metabolic process (GO:0044281)|sterol biosynthetic process (GO:0016126)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|phosphorylase kinase regulator activity (GO:0008607)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)	Acetylsalicylic acid(DB00945)	GAGAAGAACCCTTTGGAGGGG	0.652																																																	0													14.0	15.0	14.0					7																	151478481		2202	4300	6502	SO:0001583	missense	51422			AF087875	CCDS5928.1, CCDS43683.1, CCDS47752.1	7q35-q36	2014-09-17			ENSG00000106617	ENSG00000106617			9386	protein-coding gene	gene with protein product	"""AMPK gamma2"""	602743				8557660, 8621499	Standard	NM_024429		Approved	AAKG, AAKG2, H91620p, WPWS, CMH6	uc003wkk.3	Q9UGJ0	OTTHUMG00000157324	ENST00000287878.4:c.223G>A	7.37:g.151478481C>T	ENSP00000287878:p.Gly75Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y07|Q6NUI0|Q75MP4|Q9NUZ9|Q9UDN8|Q9ULX8	Missense_Mutation	SNP	pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core	p.G75R	ENST00000287878.4	37	c.223	CCDS5928.1	7	.	.	.	.	.	.	.	.	.	.	C	15.99	2.995693	0.54147	.	.	ENSG00000106617	ENST00000287878;ENST00000392801	D;D	0.89552	-2.1;-2.53	4.74	3.85	0.44370	.	0.232073	0.35525	N	0.003148	D	0.88047	0.6332	N	0.24115	0.695	0.80722	D	1	D;P	0.76494	0.999;0.622	D;B	0.68192	0.956;0.352	D	0.87677	0.2545	10	0.66056	D	0.02	.	8.0265	0.30440	0.0:0.8201:0.0:0.1799	.	75;75	Q8NCK6;Q9UGJ0	.;AAKG2_HUMAN	R	75;31	ENSP00000287878:G75R;ENSP00000376549:G31R	ENSP00000287878:G75R	G	-	1	0	PRKAG2	151109414	1.000000	0.71417	0.998000	0.56505	0.985000	0.73830	2.566000	0.45948	2.170000	0.68504	0.563000	0.77884	GGG	PRKAG2	-	NULL		0.652	PRKAG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKAG2	HGNC	protein_coding	OTTHUMT00000348440.2	C	NM_016203		151478481	-1	no_errors	ENST00000287878	ensembl	human	known	70_37	missense	SNP	1.000	T
PRR16	51334	genome.wustl.edu	37	5	119800238	119800238	+	Silent	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:119800238G>T	ENST00000407149.2	+	1	266	c.57G>T	c.(55-57)ccG>ccT	p.P19P	PRR16_ENST00000379551.2_5'UTR			Q569H4	LARGN_HUMAN	proline rich 16	19					positive regulation of cell size (GO:0045793)|positive regulation of translation (GO:0045727)					endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGGGACCGCCGGCAGCCTCCA	0.597																																																	0													17.0	16.0	17.0					5																	119800238		876	1990	2866	SO:0001819	synonymous_variant	51334			AF242769	CCDS4127.1, CCDS75290.1	5q23.1	2006-08-22			ENSG00000184838	ENSG00000184838			29654	protein-coding gene	gene with protein product		615931				15971941	Standard	XM_005272010		Approved	DSC54	uc003ksp.3	Q569H4	OTTHUMG00000128903	ENST00000407149.2:c.57G>T	5.37:g.119800238G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSZ0|Q8IXY1|Q9NYI5	Silent	SNP	NULL	p.P19	ENST00000407149.2	37	c.57		5																																																																																			PRR16	-	NULL		0.597	PRR16-002	KNOWN	basic|appris_principal	protein_coding	PRR16	HGNC	protein_coding	OTTHUMT00000371059.1	G	NM_016644		119800238	+1	no_errors	ENST00000407149	ensembl	human	known	70_37	silent	SNP	1.000	T
PSMC1	5700	genome.wustl.edu	37	14	90726515	90726515	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:90726515G>C	ENST00000261303.8	+	3	217	c.114G>C	c.(112-114)aaG>aaC	p.K38N	PSMC1_ENST00000543772.2_Intron	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	38					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|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 polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|poly(A) RNA binding (GO:0044822)	p.K38K(1)		endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		AAAAGAAGAAGAAAACAAAGG	0.408																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											119.0	134.0	129.0					14																	90726515		2203	4298	6501	SO:0001583	missense	5700			L02426	CCDS32139.1	14q32.11	2010-04-21			ENSG00000100764	ENSG00000100764		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9547	protein-coding gene	gene with protein product		602706				9473509	Standard	NM_002802		Approved	S4, p56	uc001xyf.3	P62191		ENST00000261303.8:c.114G>C	14.37:g.90726515G>C	ENSP00000261303:p.Lys38Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR63|P49014|Q03527|Q6IAW0|Q6NW36|Q96AZ3	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DUF815,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.K38N	ENST00000261303.8	37	c.114	CCDS32139.1	14	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576278	0.65878	.	.	ENSG00000100764	ENST00000261303	D	0.95307	-3.67	4.9	4.9	0.64082	.	0.057107	0.64402	D	0.000002	D	0.95146	0.8427	M	0.77616	2.38	0.80722	D	1	P	0.39094	0.659	B	0.42959	0.403	D	0.95484	0.8563	10	0.59425	D	0.04	-20.8528	18.6313	0.91360	0.0:0.0:1.0:0.0	.	38	P62191	PRS4_HUMAN	N	38	ENSP00000261303:K38N	ENSP00000261303:K38N	K	+	3	2	PSMC1	89796268	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	9.535000	0.98064	2.717000	0.92951	0.655000	0.94253	AAG	PSMC1	-	NULL		0.408	PSMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMC1	HGNC	protein_coding	OTTHUMT00000411253.1	G	NM_002802		90726515	+1	no_errors	ENST00000261303	ensembl	human	known	70_37	missense	SNP	1.000	C
PTCHD4	442213	genome.wustl.edu	37	6	48036318	48036318	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:48036318C>T	ENST00000339488.4	-	1	107	c.74G>A	c.(73-75)aGa>aAa	p.R25K	PTCHD4_ENST00000543600.1_Missense_Mutation_p.R8K	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	25						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CTGGAGCCCTCTGCGAAGCAC	0.627																																																	0													7.0	9.0	9.0					6																	48036318		1932	4091	6023	SO:0001583	missense	442213				CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.74G>A	6.37:g.48036318C>T	ENSP00000341914:p.Arg25Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.R25K	ENST00000339488.4	37	c.74	CCDS34473.2	6	.	.	.	.	.	.	.	.	.	.	C	15.96	2.986864	0.53934	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.92446	-3.04;0.6	4.54	4.54	0.55810	.	0.275088	0.34750	N	0.003707	D	0.82426	0.5034	L	0.55743	1.74	0.80722	D	1	B;B	0.22541	0.064;0.071	B;B	0.23018	0.021;0.043	T	0.80522	-0.1345	10	0.05620	T	0.96	.	17.3253	0.87245	0.0:1.0:0.0:0.0	.	25;8	Q6ZW05;B0QZ29	CF138_HUMAN;.	K	25;8	ENSP00000341914:R25K;ENSP00000439864:R8K	ENSP00000341914:R25K	R	-	2	0	C6orf138	48144277	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.645000	0.67909	2.061000	0.61500	0.442000	0.29010	AGA	PTCHD4	-	NULL		0.627	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD4	HGNC	protein_coding	OTTHUMT00000317987.2	C	NM_001013732		48036318	-1	no_errors	ENST00000339488	ensembl	human	known	70_37	missense	SNP	1.000	T
RAD50	10111	genome.wustl.edu	37	5	131893139	131893139	+	Silent	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:131893139A>G	ENST00000265335.6	+	1	510	c.123A>G	c.(121-123)ggA>ggG	p.G41G	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	41					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	membrane (GO:0016020)|Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|site of double-strand break (GO:0035861)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|nuclease activity (GO:0004518)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATGGGGCGGGAAAGACGGTAA	0.468								Homologous recombination																																									0													85.0	92.0	90.0					5																	131893139		2203	4300	6503	SO:0001819	synonymous_variant	10111			Z75311	CCDS34233.1	5q23-q31	2008-05-30	2001-11-28		ENSG00000113522	ENSG00000113522			9816	protein-coding gene	gene with protein product		604040	"""RAD50 (S. cerevisiae) homolog"""			8756642, 9705271	Standard	NM_005732		Approved	hRad50, RAD50-2	uc003kxi.3	Q92878	OTTHUMG00000059613	ENST00000265335.6:c.123A>G	5.37:g.131893139A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGF5|O43254|Q6GMT7|Q6P5X3|Q9UP86	Silent	SNP	pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50	p.G41	ENST00000265335.6	37	c.123	CCDS34233.1	5																																																																																			RAD50	-	tigrfam_Rad50		0.468	RAD50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD50	HGNC	protein_coding	OTTHUMT00000132566.5	A	NM_005732		131893139	+1	no_errors	ENST00000265335	ensembl	human	known	70_37	silent	SNP	0.999	G
RARS2	57038	genome.wustl.edu	37	6	88273904	88273904	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:88273904C>A	ENST00000369536.5	-	3	202	c.157G>T	c.(157-159)Gac>Tac	p.D53Y		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	53					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		TGGTCATTGTCTTTTTCCAAT	0.353																																																	0													141.0	129.0	133.0					6																	88273904		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.157G>T	6.37:g.88273904C>A	ENSP00000358549:p.Asp53Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.D53Y	ENST00000369536.5	37	c.157	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.367|3.367	-0.129324|-0.129324	0.06753|0.06753	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000369536;ENST00000369523|ENST00000451155	T|T	0.73363|0.48522	-0.74|0.81	5.15|5.15	4.0|4.0	0.46444|0.46444	Arginyl tRNA synthetase, class Ia, N-terminal (2);|.	0.592772|.	0.19226|.	N|.	0.119541|.	T|T	0.17831|0.17831	0.0428|0.0428	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	B|.	0.21381|.	0.055|.	B|.	0.21151|.	0.033|.	T|T	0.13255|0.13255	-1.0516|-1.0516	10|7	0.59425|0.42905	D|T	0.04|0.14	.|.	8.314|8.314	0.32088|0.32088	0.0:0.095:0.0:0.905|0.0:0.095:0.0:0.905	.|.	53|.	Q5T160|.	SYRM_HUMAN|.	Y|N	53;80|80	ENSP00000358549:D53Y|ENSP00000389656:K80N	ENSP00000358536:D80Y|ENSP00000389656:K80N	D|K	-|-	1|3	0|2	RARS2|RARS2	88330623|88330623	0.110000|0.110000	0.22057|0.22057	0.018000|0.018000	0.16275|0.16275	0.004000|0.004000	0.04260|0.04260	2.920000|2.920000	0.48844|0.48844	0.901000|0.901000	0.36495|0.36495	-0.312000|-0.312000	0.09012|0.09012	GAC|AAG	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.353	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88273904	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	0.022	A
RAET1G	353091	genome.wustl.edu	37	6	150238164	150238164	+	Missense_Mutation	SNP	C	C	A	rs150542719	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:150238164C>A	ENST00000367360.2	-	5	956	c.889G>T	c.(889-891)Gtg>Ttg	p.V297L	RAET1E-AS1_ENST00000446954.2_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1E-AS1_ENST00000605899.1_RNA	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		ggtaaagtcacgcgagtcacg	0.498																																																	0													34.0	43.0	40.0					6																	150238164		1127	2169	3296	SO:0001583	missense	353091			AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.889G>T	6.37:g.150238164C>A	ENSP00000356329:p.Val297Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.V297L	ENST00000367360.2	37	c.889	CCDS43514.1	6	.	.	.	.	.	.	.	.	.	.	C	8.130	0.782887	0.16189	.	.	ENSG00000203722	ENST00000367360	T	0.00958	5.5	0.158	0.158	0.14942	.	.	.	.	.	T	0.00241	0.0007	N	0.08118	0	0.09310	N	1	P	0.35033	0.481	B	0.33620	0.167	T	0.41413	-0.9510	8	0.87932	D	0	.	.	.	.	.	297	Q6H3X3	RET1G_HUMAN	L	297	ENSP00000356329:V297L	ENSP00000356329:V297L	V	-	1	0	RAET1G	150279857	0.003000	0.15002	0.006000	0.13384	0.006000	0.05464	0.193000	0.17116	0.202000	0.20498	0.205000	0.17691	GTG	RAET1G	-	NULL		0.498	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAET1G	HGNC	protein_coding	OTTHUMT00000042668.2	C			150238164	-1	no_errors	ENST00000367360	ensembl	human	known	70_37	missense	SNP	0.006	A
RBM10	8241	genome.wustl.edu	37	X	47045755	47045755	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:47045755G>A	ENST00000377604.3	+	23	3378	c.2636G>A	c.(2635-2637)cGc>cAc	p.R879H	RBM10_ENST00000345781.6_Missense_Mutation_p.R802H|RBM10_ENST00000329236.7_Missense_Mutation_p.R801H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	879	G-patch. {ECO:0000255|PROSITE- ProRule:PRU00092}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						GGCCTGGGCCGCAAGAAGCAG	0.632																																					Melanoma(171;120 2705 19495 39241)												0													59.0	55.0	57.0					X																	47045755		2198	4293	6491	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.2636G>A	X.37:g.47045755G>A	ENSP00000366829:p.Arg879His	Somatic		WXS	Illumina HiSeq	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R879H	ENST00000377604.3	37	c.2636	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328312	0.81690	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.32753	1.44;1.44;1.44	5.53	5.53	0.82687	D111/G-patch (3);	0.000000	0.56097	D	0.000034	T	0.57007	0.2024	M	0.76328	2.33	0.46167	D	0.998907	D;D;P;D;D	0.89917	0.999;1.0;0.867;0.999;1.0	D;D;P;D;D	0.97110	0.95;1.0;0.622;0.95;0.997	T	0.60712	-0.7209	10	0.87932	D	0	-15.9455	16.0209	0.80493	0.0:0.0:1.0:0.0	.	802;944;878;801;879	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	879;801;802	ENSP00000366829:R879H;ENSP00000328848:R801H;ENSP00000329659:R802H	ENSP00000328848:R801H	R	+	2	0	RBM10	46930699	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.736000	0.84948	2.471000	0.83476	0.600000	0.82982	CGC	RBM10	-	pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom		0.632	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47045755	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	1.000	A
RBMX2	51634	genome.wustl.edu	37	X	129543342	129543342	+	Silent	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:129543342C>T	ENST00000305536.6	+	4	349	c.285C>T	c.(283-285)gaC>gaT	p.D95D	RBMX2_ENST00000469953.1_3'UTR	NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	95	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						TGGCCGTCGACAATTTTAATG	0.443																																																	0													114.0	112.0	112.0					X																	129543342		1869	4096	5965	SO:0001819	synonymous_variant	51634			AF078865	CCDS43993.1	Xq26.1	2013-02-12			ENSG00000134597	ENSG00000134597		"""RNA binding motif (RRM) containing"""	24282	protein-coding gene	gene with protein product						10810093	Standard	NM_016024		Approved	CGI-79	uc004evt.3	Q9Y388	OTTHUMG00000022395	ENST00000305536.6:c.285C>T	X.37:g.129543342C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Z0|Q5JY82|Q9Y3I8	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D95	ENST00000305536.6	37	c.285	CCDS43993.1	X																																																																																			RBMX2	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.443	RBMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMX2	HGNC	protein_coding	OTTHUMT00000058265.1	C	NM_016024		129543342	+1	no_errors	ENST00000305536	ensembl	human	known	70_37	silent	SNP	1.000	T
RELN	5649	genome.wustl.edu	37	7	103183222	103183222	+	Silent	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:103183222G>T	ENST00000428762.1	-	43	6786	c.6627C>A	c.(6625-6627)ggC>ggA	p.G2209G	RELN_ENST00000424685.2_Silent_p.G2209G|RELN_ENST00000343529.5_Silent_p.G2209G	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2209					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACATGCGCAAGCCATCTTCAT	0.373																																					NSCLC(146;835 1944 15585 22231 52158)												0													121.0	113.0	116.0					7																	103183222		2203	4300	6503	SO:0001819	synonymous_variant	5649				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6627C>A	7.37:g.103183222G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Silent	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.G2209	ENST00000428762.1	37	c.6627	CCDS47680.1	7																																																																																			RELN	-	superfamily_Neuraminidase		0.373	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1	G	NM_005045		103183222	-1	no_errors	ENST00000424685	ensembl	human	known	70_37	silent	SNP	1.000	T
RNF125	54941	genome.wustl.edu	37	18	29645950	29645950	+	Missense_Mutation	SNP	C	C	G	rs533221261		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr18:29645950C>G	ENST00000217740.3	+	5	1082	c.590C>G	c.(589-591)aCt>aGt	p.T197S	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	197					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						GTTAGTCACACTTTGTTTTAT	0.343													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16476	0.0		0.0	False		,,,				2504	0.0																0													155.0	149.0	151.0					18																	29645950		2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.590C>G	18.37:g.29645950C>G	ENSP00000217740:p.Thr197Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.T197S	ENST00000217740.3	37	c.590	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	C	12.83	2.054978	0.36277	.	.	ENSG00000101695	ENST00000217740	D	0.81821	-1.54	5.83	5.83	0.93111	.	0.000000	0.56097	D	0.000027	T	0.82144	0.4973	N	0.22421	0.69	0.33060	D	0.533898	D	0.63880	0.993	D	0.68192	0.956	T	0.83322	-0.0017	10	0.31617	T	0.26	-12.34	15.6128	0.76740	0.0:1.0:0.0:0.0	.	197	Q96EQ8	RN125_HUMAN	S	197	ENSP00000217740:T197S	ENSP00000217740:T197S	T	+	2	0	RNF125	27899948	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.799000	0.55529	2.755000	0.94549	0.637000	0.83480	ACT	RNF125	-	NULL		0.343	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	C	NM_017831		29645950	+1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	G
RNF126	55658	genome.wustl.edu	37	19	651748	651748	+	Silent	SNP	A	A	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:651748A>C	ENST00000292363.5	-	4	461	c.306T>G	c.(304-306)gcT>gcG	p.A102A		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGTCGTCAGCCTGCGCCC	0.697																																																	0													35.0	31.0	33.0					19																	651748		2200	4299	6499	SO:0001819	synonymous_variant	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.306T>G	19.37:g.651748A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A102	ENST00000292363.5	37	c.306	CCDS12039.1	19																																																																																			RNF126	-	NULL		0.697	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	A	NM_017876		651748	-1	no_errors	ENST00000292363	ensembl	human	known	70_37	silent	SNP	0.000	C
ROS1	6098	genome.wustl.edu	37	6	117710731	117710731	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:117710731C>A	ENST00000368508.3	-	12	1739	c.1541G>T	c.(1540-1542)gGc>gTc	p.G514V	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G523V	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	514					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AATGACCTTGCCATCTGTGAC	0.423			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													100.0	101.0	101.0					6																	117710731		2203	4300	6503	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.1541G>T	6.37:g.117710731C>A	ENSP00000357494:p.Gly514Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G514V	ENST00000368508.3	37	c.1541	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	C	19.82	3.897761	0.72639	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	D;T	0.81579	-1.51;-1.18	5.72	5.72	0.89469	.	0.091412	0.48286	D	0.000184	D	0.82618	0.5076	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84829	0.0801	10	0.87932	D	0	.	17.0238	0.86440	0.0:1.0:0.0:0.0	.	514	P08922	ROS1_HUMAN	V	514;523	ENSP00000357494:G514V;ENSP00000357493:G523V	ENSP00000357493:G523V	G	-	2	0	ROS1	117817424	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	4.188000	0.58351	2.706000	0.92434	0.561000	0.74099	GGC	ROS1	-	NULL		0.423	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	C			117710731	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	1.000	A
S1PR1	1901	genome.wustl.edu	37	1	101705515	101705515	+	Silent	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:101705515C>T	ENST00000305352.6	+	2	1350	c.975C>T	c.(973-975)atC>atT	p.I325I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	325					actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|brain development (GO:0007420)|cardiac muscle tissue growth involved in heart morphogenesis (GO:0003245)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|chemotaxis (GO:0006935)|endothelial cell differentiation (GO:0045446)|G-protein coupled receptor signaling pathway (GO:0007186)|heart trabecula morphogenesis (GO:0061384)|lamellipodium assembly (GO:0030032)|negative regulation of stress fiber assembly (GO:0051497)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of bone mineralization (GO:0030500)|regulation of bone resorption (GO:0045124)|regulation of cell adhesion (GO:0030155)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell migration (GO:0072678)|transmission of nerve impulse (GO:0019226)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|sphingolipid binding (GO:0046625)|sphingosine-1-phosphate receptor activity (GO:0038036)			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						TCATCCGGATCATGTCCTGCT	0.557																																																	0													152.0	155.0	154.0					1																	101705515		2203	4300	6503	SO:0001819	synonymous_variant	1901			M31210	CCDS777.1	1p21	2012-08-08	2008-04-30	2008-04-30	ENSG00000170989	ENSG00000170989		"""GPCR / Class A : Lysophospholipid receptors : Sphingosine 1-phosphate"", ""CD molecules"""	3165	protein-coding gene	gene with protein product		601974	"""endothelial differentiation, sphingolipid G-protein-coupled receptor, 1"""	EDG1		2160972, 9488656	Standard	NM_001400		Approved	edg-1, D1S3362, CD363	uc001dud.2	P21453	OTTHUMG00000010835	ENST00000305352.6:c.975C>T	1.37:g.101705515C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT66|Q9BYY4|Q9NYN8	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt	p.I325	ENST00000305352.6	37	c.975	CCDS777.1	1																																																																																			S1PR1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_EDG1_rcpt,prints_Melcrt_ACTH_rcpt		0.557	S1PR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	S1PR1	HGNC	protein_coding	OTTHUMT00000029908.1	C	NM_001400		101705515	+1	no_errors	ENST00000305352	ensembl	human	known	70_37	silent	SNP	1.000	T
SALL4	57167	genome.wustl.edu	37	20	50408527	50408527	+	Silent	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr20:50408527G>T	ENST00000217086.4	-	2	606	c.495C>A	c.(493-495)ccC>ccA	p.P165P	SALL4_ENST00000395997.3_Silent_p.P165P|SALL4_ENST00000483130.1_5'UTR|SALL4_ENST00000371539.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	165					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTATGTCCTGGGGGGTGGGTG	0.582																																																	0													133.0	136.0	135.0					20																	50408527		2203	4300	6503	SO:0001819	synonymous_variant	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.495C>A	20.37:g.50408527G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P165	ENST00000217086.4	37	c.495	CCDS13438.1	20																																																																																			SALL4	-	NULL		0.582	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50408527	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	silent	SNP	0.121	T
SCAF11	9169	genome.wustl.edu	37	12	46320408	46320408	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:46320408C>T	ENST00000369367.3	-	11	3309	c.3076G>A	c.(3076-3078)Gaa>Aaa	p.E1026K	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.E711K|SCAF11_ENST00000419565.2_Missense_Mutation_p.E1026K|SCAF11_ENST00000549162.1_Missense_Mutation_p.E834K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	1026					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						TTTATTTTTTCTGTTATCCAA	0.338																																																	0													124.0	130.0	128.0					12																	46320408		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.3076G>A	12.37:g.46320408C>T	ENSP00000358374:p.Glu1026Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.E1026K	ENST00000369367.3	37	c.3076	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.777013	0.90195	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565	T;T;T;T	0.61742	0.08;0.77;0.08;0.77	5.81	5.81	0.92471	.	0.080423	0.53938	D	0.000046	T	0.74749	0.3757	L	0.56769	1.78	0.51233	D	0.999913	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.73341	-0.4013	10	0.51188	T	0.08	-15.4032	20.0664	0.97706	0.0:1.0:0.0:0.0	.	834;1026	F8VXG7;Q99590	.;SCAFB_HUMAN	K	711;1026;834;1026	ENSP00000449812:E711K;ENSP00000358374:E1026K;ENSP00000448864:E834K;ENSP00000413036:E1026K	ENSP00000358374:E1026K	E	-	1	0	SCAF11	44606675	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.655000	0.74392	2.735000	0.93741	0.655000	0.94253	GAA	SCAF11	-	NULL		0.338	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	C	NM_004719		46320408	-1	no_errors	ENST00000369367	ensembl	human	known	70_37	missense	SNP	1.000	T
SCAF11	9169	genome.wustl.edu	37	12	46320695	46320695	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:46320695C>T	ENST00000369367.3	-	11	3022	c.2789G>A	c.(2788-2790)aGa>aAa	p.R930K	SCAF11_ENST00000550629.1_5'Flank|SCAF11_ENST00000465950.1_Missense_Mutation_p.R615K|SCAF11_ENST00000419565.2_Missense_Mutation_p.R930K|SCAF11_ENST00000549162.1_Missense_Mutation_p.R738K	NM_004719.2	NP_004710.2	Q99590	SCAFB_HUMAN	SR-related CTD-associated factor 11	930	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|spliceosomal complex assembly (GO:0000245)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(17)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	69						AGACCACTTTCTGGTTCTCCT	0.438																																																	0													135.0	138.0	137.0					12																	46320695		2203	4300	6503	SO:0001583	missense	9169			Y11251	CCDS8748.2	12q13.11	2013-01-09	2011-01-10	2011-01-10	ENSG00000139218	ENSG00000139218		"""RING-type (C3HC4) zinc fingers"""	10784	protein-coding gene	gene with protein product		603668	"""splicing factor, arginine/serine-rich 2, interacting protein"", ""serine/arginine-rich splicing factor 2, interacting protein"""	SFRS2IP, SRSF2IP		9224939, 9447963	Standard	NM_004719		Approved	SIP1, SRRP129, CASP11	uc001rox.3	Q99590	OTTHUMG00000149930	ENST00000369367.3:c.2789G>A	12.37:g.46320695C>T	ENSP00000358374:p.Arg930Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEU9|A6NLW5|Q8IW59	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.R930K	ENST00000369367.3	37	c.2789	CCDS8748.2	12	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485474	0.63962	.	.	ENSG00000139218	ENST00000465950;ENST00000369367;ENST00000549162;ENST00000419565;ENST00000547018	T;T;T;T;T	0.68479	0.19;0.88;0.18;0.88;-0.33	6.17	5.29	0.74685	.	0.067678	0.64402	D	0.000007	T	0.64182	0.2575	M	0.68952	2.095	0.34180	D	0.670813	P;B	0.41450	0.75;0.379	B;B	0.36766	0.232;0.03	T	0.75045	-0.3456	10	0.36615	T	0.2	-11.9196	15.5723	0.76349	0.0:0.9345:0.0:0.0655	.	738;930	F8VXG7;Q99590	.;SCAFB_HUMAN	K	615;930;738;930;870	ENSP00000449812:R615K;ENSP00000358374:R930K;ENSP00000448864:R738K;ENSP00000413036:R930K;ENSP00000446746:R870K	ENSP00000358374:R930K	R	-	2	0	SCAF11	44606962	1.000000	0.71417	0.903000	0.35520	0.693000	0.40251	4.926000	0.63433	1.632000	0.50472	0.655000	0.94253	AGA	SCAF11	-	NULL		0.438	SCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCAF11	HGNC	protein_coding	OTTHUMT00000313992.2	C	NM_004719		46320695	-1	no_errors	ENST00000369367	ensembl	human	known	70_37	missense	SNP	0.995	T
SCGN	10590	genome.wustl.edu	37	6	25689739	25689739	+	Silent	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:25689739A>G	ENST00000377961.2	+	9	780	c.612A>G	c.(610-612)aaA>aaG	p.K204K	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	204	EF-hand 5. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ACTTTGAGAAAATCTTTGCCT	0.403																																																	0													274.0	263.0	267.0					6																	25689739		2203	4300	6503	SO:0001819	synonymous_variant	10590			BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.612A>G	6.37:g.25689739A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Silent	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K204	ENST00000377961.2	37	c.612	CCDS4561.1	6																																																																																			SCGN	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.403	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGN	HGNC	protein_coding	OTTHUMT00000040067.1	A			25689739	+1	no_errors	ENST00000377961	ensembl	human	known	70_37	silent	SNP	0.996	G
SHROOM3	57619	genome.wustl.edu	37	4	77659914	77659914	+	Splice_Site	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:77659914C>A	ENST00000296043.6	+	5	1541	c.588C>A	c.(586-588)agC>agA	p.S196R	SHROOM3_ENST00000473602.1_3'UTR	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	196					actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			TTTCTTCCAGCTCCTCTACTA	0.512																																																	0													106.0	114.0	111.0					4																	77659914		2203	4300	6503	SO:0001630	splice_region_variant	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.588-1C>A	4.37:g.77659914C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S196R	ENST00000296043.6	37	c.588	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	C	17.25	3.342458	0.61073	.	.	ENSG00000138771	ENST00000296043;ENST00000380735	T	0.47869	0.83	6.06	5.21	0.72293	.	0.000000	0.85682	D	0.000000	T	0.68035	0.2957	M	0.82323	2.585	0.43734	D	0.996227	D;D	0.89917	0.999;1.0	D;D	0.85130	0.996;0.997	T	0.69709	-0.5072	9	.	.	.	.	10.0863	0.42421	0.0:0.8031:0.0:0.1969	.	20;196	B4E244;Q8TF72	.;SHRM3_HUMAN	R	196;71	ENSP00000296043:S196R	.	S	+	3	2	SHROOM3	77878938	0.998000	0.40836	1.000000	0.80357	0.784000	0.44337	0.500000	0.22562	2.882000	0.98803	0.655000	0.94253	AGC	SHROOM3	-	NULL		0.512	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	C	NM_020859	Missense_Mutation	77659914	+1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	1.000	A
SIT1	27240	genome.wustl.edu	37	9	35649944	35649944	+	Silent	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:35649944G>C	ENST00000259608.3	-	5	578	c.492C>G	c.(490-492)ccC>ccG	p.P164P	RP11-331F9.4_ENST00000428948.1_RNA|SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	164					immune system process (GO:0002376)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	kinase binding (GO:0019900)|SH2 domain binding (GO:0042169)			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTCCGGCTCGGGGCCCGAGG	0.677																																																	0													10.0	12.0	11.0					9																	35649944		2195	4281	6476	SO:0001819	synonymous_variant	27240				CCDS6582.1	9p13-p12	2008-02-05	2005-04-26		ENSG00000137078	ENSG00000137078			17710	protein-coding gene	gene with protein product	"""SHP2 interacting transmembrane adaptor"""	604964	"""suppression inducing transmembrane adaptor 1"""			11491537, 10209036	Standard	NM_014450		Approved	SIT	uc003zxe.1	Q9Y3P8	OTTHUMG00000019867	ENST00000259608.3:c.492C>G	9.37:g.35649944G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBP9	Silent	SNP	NULL	p.P164	ENST00000259608.3	37	c.492	CCDS6582.1	9																																																																																			SIT1	-	NULL		0.677	SIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIT1	HGNC	protein_coding	OTTHUMT00000052322.1	G	NM_014450		35649944	-1	no_errors	ENST00000259608	ensembl	human	known	70_37	silent	SNP	0.000	C
SLC26A4	5172	genome.wustl.edu	37	7	107314773	107314773	+	Silent	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:107314773C>T	ENST00000265715.3	+	5	804	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	194					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TGCCCTGACTCTGCTGGTTGG	0.348									Pendred syndrome																																								0													85.0	82.0	83.0					7																	107314773		2203	4300	6503	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.580C>T	7.37:g.107314773C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z266|O43170	Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L194	ENST00000265715.3	37	c.580	CCDS5746.1	7																																																																																			SLC26A4	-	tigrfam_SulP_transpt		0.348	SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A4	HGNC	protein_coding	OTTHUMT00000337148.1	C	NM_000441		107314773	+1	no_errors	ENST00000265715	ensembl	human	known	70_37	silent	SNP	0.985	T
SLC29A1	2030	genome.wustl.edu	37	6	44199824	44199824	+	Silent	SNP	C	C	T	rs375868043		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:44199824C>T	ENST00000393841.1	+	11	1445	c.954C>T	c.(952-954)atC>atT	p.I318I	SLC29A1_ENST00000371724.1_Silent_p.I318I|SLC29A1_ENST00000427851.2_Silent_p.I318I|SLC29A1_ENST00000472176.1_3'UTR|SLC29A1_ENST00000371708.1_Silent_p.I318I|SLC29A1_ENST00000371713.1_Silent_p.I318I|SLC29A1_ENST00000313248.7_Silent_p.I397I|SLC29A1_ENST00000371755.3_Silent_p.I318I|SLC29A1_ENST00000371731.1_Silent_p.I318I|SLC29A1_ENST00000371740.5_Silent_p.I318I|SLC29A1_ENST00000393844.1_Silent_p.I318I	NM_001078177.1	NP_001071645.1	Q99808	S29A1_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 1	318					cellular response to glucose stimulus (GO:0071333)|cellular response to hypoxia (GO:0071456)|lactation (GO:0007595)|nucleobase-containing compound metabolic process (GO:0006139)|nucleoside transmembrane transport (GO:1901642)|nucleoside transport (GO:0015858)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sleep (GO:0030431)|transmembrane transport (GO:0055085)|uridine transport (GO:0015862)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Cytarabine(DB00987)|Didanosine(DB00900)|Fludarabine(DB01073)|Fluorouracil(DB00544)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Pemetrexed(DB00642)|Ribavirin(DB00811)|Zalcitabine(DB00943)	AGTCCAGCATCGCAGGCAGCA	0.547													C|||	1	0.000199681	0.0	0.0	5008	,	,		22151	0.001		0.0	False		,,,				2504	0.0																0								C	,,,,	0,4406		0,0,2203	118.0	102.0	107.0		954,954,954,954,954	-5.1	0.7	6		107	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SLC29A1	NM_001078174.1,NM_001078175.1,NM_001078176.1,NM_001078177.1,NM_004955.2	,,,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,,,	318/457,318/457,318/457,318/457,318/457	44199824	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2030			U81375	CCDS4908.1	6p21.1	2013-07-17	2013-07-17		ENSG00000112759	ENSG00000112759		"""Solute carriers"""	11003	protein-coding gene	gene with protein product		602193	"""solute carrier family 29 (nucleoside transporters), member 1"""	ENT1		8986748, 9344680	Standard	NM_004955		Approved		uc003owy.2	Q99808	OTTHUMG00000014759	ENST00000393841.1:c.954C>T	6.37:g.44199824C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQV7|B3KQY5|Q5T9W9|Q9UJY2	Silent	SNP	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt,tigrfam_Eqnu_transpt	p.I397	ENST00000393841.1	37	c.1191	CCDS4908.1	6																																																																																			SLC29A1	-	pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,tigrfam_Eqnu_transpt		0.547	SLC29A1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC29A1	HGNC	protein_coding	OTTHUMT00000040721.1	C			44199824	+1	no_errors	ENST00000313248	ensembl	human	known	70_37	silent	SNP	0.123	T
SLC2A6	11182	genome.wustl.edu	37	9	136343502	136343502	+	Silent	SNP	G	G	A	rs372451832	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr9:136343502G>A	ENST00000371899.4	-	2	206	c.129C>T	c.(127-129)ttC>ttT	p.F43F	SLC2A6_ENST00000371897.4_Silent_p.F43F|SLC2A6_ENST00000485978.1_5'UTR	NM_017585.3	NP_060055.2	Q9UGQ3	GTR6_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 6	43					glucose transport (GO:0015758)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GCACTGCGGCGAAGGTGGCCA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		18723	0.001		0.0	False		,,,				2504	0.001																0													145.0	141.0	143.0					9																	136343502		2203	4300	6503	SO:0001819	synonymous_variant	11182			AJ011372	CCDS6975.1, CCDS48052.1	9q34	2013-05-22			ENSG00000160326	ENSG00000160326		"""Solute carriers"""	11011	protein-coding gene	gene with protein product		606813				10970791	Standard	NM_001145099		Approved	GLUT9, GLUT6, HSA011372	uc004cee.3	Q9UGQ3	OTTHUMG00000020874	ENST00000371899.4:c.129C>T	9.37:g.136343502G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNU6|Q5SXD7|Q8NCC2	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt	p.F43	ENST00000371899.4	37	c.129	CCDS6975.1	9																																																																																			SLC2A6	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt		0.582	SLC2A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A6	HGNC	protein_coding	OTTHUMT00000054909.1	G	NM_017585		136343502	-1	no_errors	ENST00000371899	ensembl	human	known	70_37	silent	SNP	0.987	A
SLC43A3	29015	genome.wustl.edu	37	11	57185336	57185336	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:57185336G>A	ENST00000395123.2	-	8	860	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F	SLC43A3_ENST00000395124.1_Missense_Mutation_p.L186F|SLC43A3_ENST00000533524.1_Missense_Mutation_p.L199F|SLC43A3_ENST00000529554.1_Missense_Mutation_p.L186F|SLC43A3_ENST00000352187.1_Missense_Mutation_p.L186F|SLC43A3_ENST00000528098.1_5'UTR	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	186					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GAGGCCCTGAGGCTGATGCCT	0.522																																																	0													83.0	74.0	77.0					11																	57185336		2201	4296	6497	SO:0001583	missense	29015			AL157431	CCDS7956.1, CCDS60784.1	11q11	2013-05-22			ENSG00000134802	ENSG00000134802		"""Solute carriers"""	17466	protein-coding gene	gene with protein product	"""likely ortholog of mouse embryonic epithelial gene 1"""					7531438, 11704567	Standard	NM_017611		Approved	SEEEG-1, Eeg1, DKFZp762A227, FOAP-13, PRO1659	uc001nki.3	Q8NBI5	OTTHUMG00000167113	ENST00000395123.2:c.556C>T	11.37:g.57185336G>A	ENSP00000378555:p.Leu186Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNR8|E7EQD2|Q9NSS4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L186F	ENST00000395123.2	37	c.556	CCDS7956.1	11	.	.	.	.	.	.	.	.	.	.	G	15.16	2.750906	0.49257	.	.	ENSG00000134802	ENST00000395123;ENST00000395124;ENST00000352187;ENST00000529554;ENST00000533524;ENST00000530005	T;T;T;T;T;T	0.58358	0.49;0.49;0.49;0.49;0.49;0.34	5.48	3.59	0.41128	Major facilitator superfamily domain, general substrate transporter (1);	0.068296	0.64402	D	0.000010	T	0.37461	0.1004	N	0.20766	0.605	0.50632	D	0.999889	P;B;B;B	0.45986	0.87;0.044;0.09;0.044	P;B;B;B	0.49252	0.604;0.129;0.17;0.074	T	0.35773	-0.9775	10	0.05525	T	0.97	-30.3289	8.2663	0.31815	0.0796:0.0:0.7639:0.1565	.	186;199;186;186	B4DV87;E7EQD2;Q8NBI5;A8K2X6	.;.;S43A3_HUMAN;.	F	186;186;186;186;199;186	ENSP00000378555:L186F;ENSP00000378556:L186F;ENSP00000337561:L186F;ENSP00000436254:L186F;ENSP00000434515:L199F;ENSP00000435893:L186F	ENSP00000337561:L186F	L	-	1	0	SLC43A3	56941912	1.000000	0.71417	0.536000	0.28039	0.927000	0.56198	2.363000	0.44178	1.306000	0.44926	0.462000	0.41574	CTC	SLC43A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.522	SLC43A3-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC43A3	HGNC	protein_coding	OTTHUMT00000393057.1	G	NM_017611		57185336	-1	no_errors	ENST00000352187	ensembl	human	known	70_37	missense	SNP	0.916	A
SLC44A2	57153	genome.wustl.edu	37	19	10753987	10753987	+	Missense_Mutation	SNP	G	G	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:10753987G>A	ENST00000335757.5	+	22	2423	c.2047G>A	c.(2047-2049)Gag>Aag	p.E683K	SLC44A2_ENST00000407327.4_Missense_Mutation_p.E681K|SLC44A2_ENST00000586078.1_3'UTR			Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	683					choline transport (GO:0015871)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|signal transducer activity (GO:0004871)	p.E683K(1)		NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGCTCGGCCGAGAGGCCTTA	0.607																																																	1	Substitution - Missense(1)	lung(1)											38.0	34.0	36.0					19																	10753987		2203	4300	6503	SO:0001583	missense	57153			AF070636	CCDS12245.1, CCDS54216.1	19p13.2	2014-08-12	2013-07-17		ENSG00000129353	ENSG00000129353		"""Solute carriers"""	17292	protein-coding gene	gene with protein product		606106				10677542, 15715662	Standard	NM_001145056		Approved	CTL2	uc002mpf.3	Q8IWA5	OTTHUMG00000180585	ENST00000335757.5:c.2047G>A	19.37:g.10753987G>A	ENSP00000336888:p.Glu683Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBB1|B3KNH3|B4DFJ0|F2Q9D7|Q658V1|Q658Z2|Q6PJV7|Q8N2F0|Q9NY68	Missense_Mutation	SNP	pfam_Choline_transptr-like	p.E683K	ENST00000335757.5	37	c.2047	CCDS12245.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.535702	0.96460	.	.	ENSG00000129353	ENST00000407327;ENST00000335757	T;T	0.11495	2.77;2.77	5.19	5.19	0.71726	.	0.099641	0.64402	D	0.000002	T	0.36026	0.0952	M	0.85299	2.745	0.80722	D	1	P;D	0.67145	0.879;0.996	B;P	0.62491	0.324;0.903	T	0.29150	-1.0021	10	0.62326	D	0.03	.	17.4847	0.87684	0.0:0.0:1.0:0.0	.	683;681	Q8IWA5;Q8IWA5-3	CTL2_HUMAN;.	K	681;683	ENSP00000385135:E681K;ENSP00000336888:E683K	ENSP00000336888:E683K	E	+	1	0	SLC44A2	10614987	1.000000	0.71417	0.961000	0.40146	0.936000	0.57629	7.359000	0.79477	2.427000	0.82271	0.563000	0.77884	GAG	SLC44A2	-	NULL		0.607	SLC44A2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC44A2	HGNC	protein_coding	OTTHUMT00000452045.1	G			10753987	+1	no_errors	ENST00000335757	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC7A9	11136	genome.wustl.edu	37	19	33359429	33359429	+	Silent	SNP	A	A	G	rs142572851		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:33359429A>G	ENST00000023064.4	-	2	203	c.12T>C	c.(10-12)acT>acC	p.T4T	SLC7A9_ENST00000590341.1_Silent_p.T4T|SLC7A9_ENST00000587772.1_Silent_p.T4T	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	4					amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|L-cystine transport (GO:0015811)|leukocyte migration (GO:0050900)|neutral amino acid transport (GO:0015804)|protein complex assembly (GO:0006461)|transmembrane transport (GO:0055085)|transport (GO:0006810)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|L-cystine transmembrane transporter activity (GO:0015184)|neutral amino acid transmembrane transporter activity (GO:0015175)|peptide antigen binding (GO:0042605)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	TTCTCAGGCCAGTATCCCCCA	0.562																																					GBM(181;1335 2108 9644 44178 46689)												0								A	,	1,4405	2.1+/-5.4	0,1,2202	167.0	113.0	131.0		12,12	-10.6	0.0	19	dbSNP_134	131	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC7A9	NM_001126335.1,NM_014270.4	,	0,2,6501	GG,GA,AA		0.0116,0.0227,0.0154	,	4/488,4/488	33359429	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	11136			AF141289	CCDS12425.1	19q13.11	2013-07-19	2013-07-19		ENSG00000021488	ENSG00000021488		"""Solute carriers"""	11067	protein-coding gene	gene with protein product		604144		CSNU3		10471498	Standard	NM_014270		Approved		uc021usa.1	P82251	OTTHUMG00000180287	ENST00000023064.4:c.12T>C	19.37:g.33359429A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9A6	Silent	SNP	pfam_AA-permease_dom,pirsf_AA/rel_permease1	p.T4	ENST00000023064.4	37	c.12	CCDS12425.1	19																																																																																			SLC7A9	-	NULL		0.562	SLC7A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A9	HGNC	protein_coding	OTTHUMT00000450585.1	A			33359429	-1	no_errors	ENST00000023064	ensembl	human	known	70_37	silent	SNP	0.000	G
SPNS2	124976	genome.wustl.edu	37	17	4436544	4436544	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:4436544C>G	ENST00000329078.3	+	8	1305	c.1095C>G	c.(1093-1095)atC>atG	p.I365M		NM_001124758.1	NP_001118230.1	Q8IVW8	SPNS2_HUMAN	spinster homolog 2 (Drosophila)	365					B cell homeostasis (GO:0001782)|bone development (GO:0060348)|lymph node development (GO:0048535)|lymphocyte migration (GO:0072676)|regulation of eye pigmentation (GO:0048073)|regulation of humoral immune response (GO:0002920)|sphingolipid metabolic process (GO:0006665)|sphingosine-1-phosphate signaling pathway (GO:0003376)|T cell homeostasis (GO:0043029)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	sphingolipid transporter activity (GO:0046624)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						ACAGCCTCATCTTTGGGGCCA	0.677																																																	0													22.0	23.0	22.0					17																	4436544		1567	3581	5148	SO:0001583	missense	124976			BC041772	CCDS42237.1	17p13.2	2008-12-15				ENSG00000183018			26992	protein-coding gene	gene with protein product		612584				12815463	Standard	NM_001124758		Approved		uc002fxx.2	Q8IVW8		ENST00000329078.3:c.1095C>G	17.37:g.4436544C>G	ENSP00000333292:p.Ile365Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A1T3	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I365M	ENST00000329078.3	37	c.1095	CCDS42237.1	17	.	.	.	.	.	.	.	.	.	.	c	16.13	3.035540	0.54896	.	.	ENSG00000183018	ENST00000329078	T	0.59772	0.24	4.79	4.79	0.61399	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.63616	0.2526	L	0.53671	1.685	0.53688	D	0.999978	P	0.47604	0.898	P	0.53035	0.716	T	0.67373	-0.5687	10	0.87932	D	0	.	11.6353	0.51200	0.1778:0.8222:0.0:0.0	.	365	Q8IVW8	SPNS2_HUMAN	M	365	ENSP00000333292:I365M	ENSP00000333292:I365M	I	+	3	3	SPNS2	4383293	1.000000	0.71417	1.000000	0.80357	0.707000	0.40811	1.961000	0.40432	2.198000	0.70561	0.486000	0.48141	ATC	SPNS2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.677	SPNS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPNS2	HGNC	protein_coding	OTTHUMT00000438802.1	C			4436544	+1	no_errors	ENST00000329078	ensembl	human	known	70_37	missense	SNP	1.000	G
SULF2	55959	genome.wustl.edu	37	20	46311744	46311744	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr20:46311744C>A	ENST00000359930.4	-	7	1909	c.1058G>T	c.(1057-1059)gGc>gTc	p.G353V	SULF2_ENST00000361612.4_Missense_Mutation_p.G353V|SULF2_ENST00000484875.1_Missense_Mutation_p.G353V|SULF2_ENST00000467815.1_Missense_Mutation_p.G353V|CTD-2653D5.1_ENST00000526566.2_RNA	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	353					bone development (GO:0060348)|cartilage development (GO:0051216)|chondrocyte development (GO:0002063)|embryonic skeletal system development (GO:0048706)|esophagus smooth muscle contraction (GO:0014846)|glial cell-derived neurotrophic factor receptor signaling pathway (GO:0035860)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|heparan sulfate proteoglycan metabolic process (GO:0030201)|innervation (GO:0060384)|kidney development (GO:0001822)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|positive regulation of Wnt signaling pathway (GO:0030177)|positive regulation vascular endothelial growth factor production (GO:0010575)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	arylsulfatase activity (GO:0004065)|calcium ion binding (GO:0005509)|N-acetylglucosamine-6-sulfatase activity (GO:0008449)			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTACAGACAGCCGGCTTCCAC	0.612																																																	0													60.0	57.0	58.0					20																	46311744		2203	4300	6503	SO:0001583	missense	55959			AY101176	CCDS13408.1, CCDS13409.1, CCDS13409.2	20q13.12-q13.13	2008-05-14			ENSG00000196562	ENSG00000196562			20392	protein-coding gene	gene with protein product		610013				12368295	Standard	NM_018837		Approved	KIAA1247, HSULF-2, SULF-2	uc002xto.3	Q8IWU5	OTTHUMG00000032675	ENST00000359930.4:c.1058G>T	20.37:g.46311744C>A	ENSP00000353007:p.Gly353Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5U6|Q5JYE1|Q6UX86|Q96SG2|Q9H1H0|Q9UJR3|Q9ULH3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Extracellular_sulfatase_C,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase	p.G353V	ENST00000359930.4	37	c.1058	CCDS13408.1	20	.	.	.	.	.	.	.	.	.	.	c	23.5	4.426155	0.83667	.	.	ENSG00000196562	ENST00000359930;ENST00000484875;ENST00000361612;ENST00000467815	D;D;D;D	0.98075	-4.7;-4.7;-4.7;-4.7	4.71	4.71	0.59529	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99171	0.9713	H	0.96048	3.76	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.81914	0.961;0.995	D	0.98991	1.0808	10	0.87932	D	0	-23.7202	18.2542	0.90014	0.0:1.0:0.0:0.0	.	353;353	Q8IWU5-2;Q8IWU5	.;SULF2_HUMAN	V	353	ENSP00000353007:G353V;ENSP00000418290:G353V;ENSP00000354662:G353V;ENSP00000418442:G353V	ENSP00000353007:G353V	G	-	2	0	SULF2	45745151	0.998000	0.40836	0.996000	0.52242	0.728000	0.41692	7.210000	0.77924	2.607000	0.88179	0.537000	0.68136	GGC	SULF2	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase		0.612	SULF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SULF2	HGNC	protein_coding	OTTHUMT00000079606.1	C	NM_018837		46311744	-1	no_errors	ENST00000359930	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNE3	161176	genome.wustl.edu	37	14	95912341	95912341	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:95912341C>G	ENST00000334258.5	-	8	1551	c.1537G>C	c.(1537-1539)Gag>Cag	p.E513Q	SYNE3_ENST00000557275.1_Missense_Mutation_p.E513Q|SYNE3_ENST00000554873.1_Missense_Mutation_p.E270Q|SYNE3_ENST00000553340.1_Missense_Mutation_p.E513Q	NM_152592.3	NP_689805.3	Q6ZMZ3	SYNE3_HUMAN	spectrin repeat containing, nuclear envelope family member 3	513					cytoskeletal anchoring at nuclear membrane (GO:0090286)|cytoskeleton organization (GO:0007010)|establishment of protein localization to membrane (GO:0090150)|regulation of cell shape (GO:0008360)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear outer membrane (GO:0005640)|SUN-KASH complex (GO:0034993)	actin filament binding (GO:0051015)			breast(1)|endometrium(2)|lung(25)	28						GTGGCTCTCTCCTGGCCAAAG	0.572																																																	0													124.0	120.0	121.0					14																	95912341		2203	4300	6503	SO:0001583	missense	161176			AK098471	CCDS9935.1	14q32.13	2012-05-31	2012-05-31	2012-05-31	ENSG00000176438	ENSG00000176438			19861	protein-coding gene	gene with protein product		610861	"""chromosome 14 open reading frame 49"""	C14orf49			Standard	NM_152592		Approved	FLJ25605, NET53, Nesprin-3, Nesp3	uc001yei.4	Q6ZMZ3	OTTHUMG00000171632	ENST00000334258.5:c.1537G>C	14.37:g.95912341C>G	ENSP00000334308:p.Glu513Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8H3|Q86SX5|Q8N7G8	Missense_Mutation	SNP	pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH	p.E513Q	ENST00000334258.5	37	c.1537	CCDS9935.1	14	.	.	.	.	.	.	.	.	.	.	C	16.49	3.136774	0.56936	.	.	ENSG00000176438	ENST00000334258;ENST00000554873;ENST00000557275;ENST00000553340	T;T;T;T	0.18338	3.01;2.22;3.07;2.28	5.31	4.4	0.53042	.	0.356997	0.20097	N	0.099312	T	0.22003	0.0530	M	0.62016	1.91	0.41054	D	0.98532	P;P;P	0.48640	0.913;0.913;0.859	B;B;B	0.43754	0.43;0.43;0.248	T	0.03503	-1.1030	10	0.26408	T	0.33	-12.2424	13.9954	0.64392	0.0:0.7111:0.2889:0.0	.	513;513;513	Q6ZMZ3-2;Q6ZMZ3-3;Q6ZMZ3	.;.;SYNE3_HUMAN	Q	513;270;513;513	ENSP00000334308:E513Q;ENSP00000452154:E270Q;ENSP00000450562:E513Q;ENSP00000450774:E513Q	ENSP00000334308:E513Q	E	-	1	0	C14orf49	94982094	1.000000	0.71417	0.174000	0.22961	0.609000	0.37215	4.223000	0.58587	1.198000	0.43158	0.561000	0.74099	GAG	SYNE3	-	NULL		0.572	SYNE3-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE3	HGNC	protein_coding	OTTHUMT00000420529.2	C	NM_152592		95912341	-1	no_errors	ENST00000334258	ensembl	human	known	70_37	missense	SNP	0.956	G
SYT13	57586	genome.wustl.edu	37	11	45275950	45275950	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:45275950C>G	ENST00000020926.3	-	3	526	c.415G>C	c.(415-417)Gtg>Ctg	p.V139L	CTD-2560E9.5_ENST00000531663.1_RNA|CTD-2560E9.5_ENST00000534342.1_RNA	NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	139					vesicle-mediated transport (GO:0016192)	integral component of plasma membrane (GO:0005887)|transport vesicle (GO:0030133)				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						ACATCCTCCACCACACCTGTT	0.522																																																	0													127.0	105.0	112.0					11																	45275950		2203	4299	6502	SO:0001583	missense	57586			AB037848	CCDS31470.1	11p12-p11	2013-01-21			ENSG00000019505	ENSG00000019505		"""Synaptotagmins"""	14962	protein-coding gene	gene with protein product		607716				11171101	Standard	NM_020826		Approved	KIAA1427	uc001myq.2	Q7L8C5	OTTHUMG00000166504	ENST00000020926.3:c.415G>C	11.37:g.45275950C>G	ENSP00000020926:p.Val139Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4P4|D3DQP1|Q9BQS3|Q9H041|Q9P2C0	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V139L	ENST00000020926.3	37	c.415	CCDS31470.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.06|17.06	3.292858|3.292858	0.60086|0.60086	.|.	.|.	ENSG00000019505|ENSG00000019505	ENST00000020926|ENST00000528101	T|.	0.07800|.	3.16|.	5.46|5.46	5.46|5.46	0.80206|0.80206	.|.	0.077676|.	0.51477|.	D|.	0.000089|.	T|T	0.51550|0.51550	0.1681|0.1681	N|N	0.24115|0.24115	0.695|0.695	0.39085|0.39085	D|D	0.960985|0.960985	P|.	0.49253|.	0.921|.	B|.	0.35182|.	0.197|.	T|T	0.49579|0.49579	-0.8925|-0.8925	10|5	0.25751|.	T|.	0.34|.	.|.	13.9283|13.9283	0.63978|0.63978	0.0:0.9268:0.0:0.0732|0.0:0.9268:0.0:0.0732	.|.	139|.	Q7L8C5|.	SYT13_HUMAN|.	L|C	139|98	ENSP00000020926:V139L|.	ENSP00000020926:V139L|.	V|W	-|-	1|3	0|0	SYT13|SYT13	45232526|45232526	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	3.494000|3.494000	0.53273|0.53273	2.728000|2.728000	0.93425|0.93425	0.655000|0.655000	0.94253|0.94253	GTG|TGG	SYT13	-	NULL		0.522	SYT13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT13	HGNC	protein_coding	OTTHUMT00000390110.1	C	NM_020826		45275950	-1	no_errors	ENST00000020926	ensembl	human	known	70_37	missense	SNP	1.000	G
SYTL2	54843	genome.wustl.edu	37	11	85407429	85407429	+	Missense_Mutation	SNP	G	G	T	rs369721219		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:85407429G>T	ENST00000528231.1	-	17	2733	c.2456C>A	c.(2455-2457)aCc>aAc	p.T819N	SYTL2_ENST00000316356.4_Missense_Mutation_p.T820N|SYTL2_ENST00000354566.3_Missense_Mutation_p.T1157N|SYTL2_ENST00000389960.4_Missense_Mutation_p.T795N|SYTL2_ENST00000524452.1_Missense_Mutation_p.T795N|SYTL2_ENST00000525423.1_Missense_Mutation_p.T1141N|SYTL2_ENST00000359152.5_Missense_Mutation_p.T1665N|SYTL2_ENST00000533892.1_Missense_Mutation_p.T221N|SYTL2_ENST00000527523.1_Missense_Mutation_p.T787N|SYTL2_ENST00000389958.3_Missense_Mutation_p.T250N|SYTL2_ENST00000529581.1_Missense_Mutation_p.T261N|SYTL2_ENST00000525702.1_Missense_Mutation_p.T261N	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	819	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGGAAGGATGGTACTACAAAA	0.398																																																	0								G	ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR,ASN/THR	0,4406		0,0,2203	119.0	116.0	117.0		2456,662,2459,782,2384,3470,3422,782,749	3.0	1.0	11		117	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense,missense,missense,missense,missense,missense,missense,missense	SYTL2	NM_001162951.1,NM_001162952.1,NM_001162953.1,NM_032379.3,NM_032943.3,NM_206927.2,NM_206928.2,NM_206929.2,NM_206930.2	65,65,65,65,65,65,65,65,65	0,1,6501	TT,TG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	819/935,221/337,820/936,261/377,795/911,1157/1273,1141/1257,261/377,250/366	85407429	1,13003	2203	4299	6502	SO:0001583	missense	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.2456C>A	11.37:g.85407429G>T	ENSP00000431701:p.Thr819Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T1665N	ENST00000528231.1	37	c.4994	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	16.88	3.245253	0.59103	0.0	1.16E-4	ENSG00000137501	ENST00000389960;ENST00000359152;ENST00000354566;ENST00000316356;ENST00000525702;ENST00000525423;ENST00000529581;ENST00000389958;ENST00000530351;ENST00000528231;ENST00000533892;ENST00000527523;ENST00000524452	T;T;T;T;T;T;T;T;T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02;-0.02	5.95	3.03	0.35002	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.429966	0.28921	N	0.013701	T	0.60741	0.2292	N	0.19112	0.55	0.40955	D	0.984573	D;D;D;P;D;D;B;D;B;P	0.61080	0.976;0.986;0.989;0.828;0.971;0.96;0.317;0.982;0.082;0.662	P;P;D;P;P;P;B;P;B;B	0.64410	0.477;0.876;0.925;0.5;0.691;0.844;0.138;0.844;0.056;0.407	T	0.56226	-0.8014	9	.	.	.	-0.0199	10.6364	0.45567	0.2:0.0:0.8:0.0	.	787;795;819;820;637;1117;1141;1157;250;221	Q9HCH5-14;Q9HCH5-6;Q9HCH5;Q9HCH5-13;Q9HCH5-15;Q9HCH5-11;Q9HCH5-7;Q9HCH5-8;Q9HCH5-9;Q9HCH5-4	.;.;SYTL2_HUMAN;.;.;.;.;.;.;.	N	795;1665;1157;820;261;1141;261;250;536;819;221;787;795	ENSP00000374610:T795N;ENSP00000352065:T1665N;ENSP00000346576:T1157N;ENSP00000318803:T820N;ENSP00000432996:T261N;ENSP00000432694:T1141N;ENSP00000435855:T261N;ENSP00000374608:T250N;ENSP00000435009:T536N;ENSP00000431701:T819N;ENSP00000432144:T221N;ENSP00000434010:T787N;ENSP00000435238:T795N	.	T	-	2	0	SYTL2	85085077	1.000000	0.71417	0.996000	0.52242	0.593000	0.36681	4.174000	0.58256	0.385000	0.24970	0.655000	0.94253	ACC	SYTL2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.398	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85407429	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	1.000	T
TMC8	147138	genome.wustl.edu	37	17	76128481	76128481	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr17:76128481C>A	ENST00000318430.5	+	4	714	c.340C>A	c.(340-342)Cgc>Agc	p.R114S	TMC6_ENST00000322914.3_5'UTR|TMC8_ENST00000589691.1_5'UTR	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	114					ion transport (GO:0006811)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|regulation of cell growth (GO:0001558)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|zinc ion homeostasis (GO:0055069)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CACCTTCCTCCGCTTCCTGCT	0.687																																																	0													55.0	42.0	46.0					17																	76128481		2202	4300	6502	SO:0001583	missense	147138			AY057380	CCDS32749.1	17q25.3	2014-09-17	2005-11-10	2005-11-10	ENSG00000167895	ENSG00000167895			20474	protein-coding gene	gene with protein product		605829	"""epidermodysplasia verruciformis 2"""	EVER2		12426567	Standard	NM_152468		Approved	EVIN2	uc002jup.2	Q8IU68		ENST00000318430.5:c.340C>A	17.37:g.76128481C>A	ENSP00000325561:p.Arg114Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YDC0|Q8IWU7|Q8N358|Q8NF04	Missense_Mutation	SNP	pfam_TMC	p.R114S	ENST00000318430.5	37	c.340	CCDS32749.1	17	.	.	.	.	.	.	.	.	.	.	C	18.49	3.634560	0.67130	.	.	ENSG00000167895	ENST00000318430;ENST00000301627	T	0.61040	0.14	4.28	4.28	0.50868	.	0.258257	0.36665	N	0.002461	T	0.76644	0.4016	M	0.88979	2.995	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.80181	-0.1489	10	0.87932	D	0	-26.8287	9.4676	0.38822	0.2114:0.7886:0.0:0.0	.	114	Q8IU68	TMC8_HUMAN	S	114	ENSP00000325561:R114S	ENSP00000301627:R114S	R	+	1	0	TMC8	73640076	0.067000	0.21026	0.970000	0.41538	0.796000	0.44982	0.313000	0.19415	2.221000	0.72209	0.561000	0.74099	CGC	TMC8	-	NULL		0.687	TMC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC8	HGNC	protein_coding	OTTHUMT00000436900.3	C			76128481	+1	no_errors	ENST00000318430	ensembl	human	known	70_37	missense	SNP	0.944	A
TMEM120B	144404	genome.wustl.edu	37	12	122212993	122212993	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:122212993C>G	ENST00000449592.2	+	11	964	c.863C>G	c.(862-864)aCg>aGg	p.T288R	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	288						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		AATGCCGTCACGCTGTTTGAG	0.652																																																	0													36.0	38.0	38.0					12																	122212993		1994	4174	6168	SO:0001583	missense	144404			BC127768	CCDS41852.1	12q24.31	2007-08-01			ENSG00000188735	ENSG00000188735			32008	protein-coding gene	gene with protein product							Standard	NM_001080825		Approved		uc001ubc.4	A0PK00	OTTHUMG00000169076	ENST00000449592.2:c.863C>G	12.37:g.122212993C>G	ENSP00000404991:p.Thr288Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK01|B3KX33	Missense_Mutation	SNP	pfam_TMPIT	p.T288R	ENST00000449592.2	37	c.863	CCDS41852.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.8|24.8	4.574557|4.574557	0.86542|0.86542	.|.	.|.	ENSG00000188735|ENSG00000188735	ENST00000541467|ENST00000449592	T|T	0.29397|0.32753	1.57|1.44	5.19|5.19	5.19|5.19	0.71726|0.71726	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.60064|0.60064	0.2240|0.2240	M|M	0.84156|0.84156	2.68|2.68	0.80722|0.80722	D|D	1|1	.|D	.|0.64830	.|0.994	.|D	.|0.72982	.|0.979	T|T	0.65755|0.65755	-0.6091|-0.6091	7|10	0.87932|0.66056	D|D	0|0.02	-18.4344|-18.4344	17.4796|17.4796	0.87669|0.87669	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|288	.|A0PK00	.|T120B_HUMAN	Q|R	245|288	ENSP00000442105:H245Q|ENSP00000404991:T288R	ENSP00000442105:H245Q|ENSP00000345152:T288R	H|T	+|+	3|2	2|0	TMEM120B|TMEM120B	120697376|120697376	1.000000|1.000000	0.71417|0.71417	0.798000|0.798000	0.32154|0.32154	0.655000|0.655000	0.38815|0.38815	4.730000|4.730000	0.62015|0.62015	2.420000|2.420000	0.82092|0.82092	0.561000|0.561000	0.74099|0.74099	CAC|ACG	TMEM120B	-	pfam_TMPIT		0.652	TMEM120B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120B	HGNC	protein_coding	OTTHUMT00000402158.1	C	NM_001080825		122212993	+1	no_errors	ENST00000342607	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM138	51524	genome.wustl.edu	37	11	61136174	61136174	+	Missense_Mutation	SNP	G	G	T	rs569659022		TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:61136174G>T	ENST00000278826.6	+	5	1041	c.482G>T	c.(481-483)cGa>cTa	p.R161L	TMEM138_ENST00000381787.2_Missense_Mutation_p.R103L	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	161					cilium assembly (GO:0042384)	cilium (GO:0005929)|integral component of membrane (GO:0016021)|vacuole (GO:0005773)				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						ATGCAAGTTCGAAGGTGACCT	0.493																																																	0													108.0	84.0	92.0					11																	61136174		2203	4299	6502	SO:0001583	missense	51524			AF151030	CCDS8005.1	11q12.2	2014-01-28			ENSG00000149483	ENSG00000149483			26944	protein-coding gene	gene with protein product		614459					Standard	NM_016464		Approved	HSPC196, JBTS16	uc001nrl.2	Q9NPI0	OTTHUMG00000168145	ENST00000278826.6:c.482G>T	11.37:g.61136174G>T	ENSP00000278826:p.Arg161Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGA7|B4E044|Q5JPE1	Missense_Mutation	SNP	NULL	p.R161L	ENST00000278826.6	37	c.482	CCDS8005.1	11	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145205	0.77888	.	.	ENSG00000149483	ENST00000278826;ENST00000381787	D;D	0.90563	-2.68;-2.69	5.95	4.06	0.47325	.	0.064498	0.64402	D	0.000006	D	0.88621	0.6486	L	0.53249	1.67	0.54753	D	0.999984	B	0.28439	0.212	B	0.33750	0.169	D	0.85943	0.1459	10	0.72032	D	0.01	.	11.6231	0.51130	0.0674:0.1249:0.8076:0.0	.	161	Q9NPI0	TM138_HUMAN	L	161;103	ENSP00000278826:R161L;ENSP00000371206:R103L	ENSP00000278826:R161L	R	+	2	0	TMEM138	60892750	0.832000	0.29368	1.000000	0.80357	0.972000	0.66771	2.669000	0.46825	0.827000	0.34685	0.655000	0.94253	CGA	TMEM138	-	NULL		0.493	TMEM138-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM138	HGNC	protein_coding	OTTHUMT00000398399.2	G	NM_016464		61136174	+1	no_errors	ENST00000278826	ensembl	human	known	70_37	missense	SNP	0.996	T
TP63	8626	genome.wustl.edu	37	3	189582097	189582097	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr3:189582097C>T	ENST00000264731.3	+	5	745	c.656C>T	c.(655-657)cCt>cTt	p.P219L	TP63_ENST00000418709.2_Missense_Mutation_p.P219L|TP63_ENST00000449992.1_Missense_Mutation_p.P40L|TP63_ENST00000456148.1_Missense_Mutation_p.P125L|TP63_ENST00000392463.2_Missense_Mutation_p.P125L|TP63_ENST00000382063.4_Missense_Mutation_p.P134L|TP63_ENST00000354600.5_Missense_Mutation_p.P125L|TP63_ENST00000440651.2_Missense_Mutation_p.P219L|TP63_ENST00000392461.3_Missense_Mutation_p.P125L|TP63_ENST00000437221.1_Missense_Mutation_p.P125L|TP63_ENST00000392460.3_Missense_Mutation_p.P219L|TP63_ENST00000320472.5_Missense_Mutation_p.P219L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	219					apoptotic process (GO:0006915)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|cloacal septation (GO:0060197)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|ectoderm and mesoderm interaction (GO:0007499)|embryonic limb morphogenesis (GO:0030326)|epidermal cell division (GO:0010481)|epithelial cell development (GO:0002064)|establishment of planar polarity (GO:0001736)|establishment of skin barrier (GO:0061436)|female genitalia morphogenesis (GO:0048807)|hair follicle morphogenesis (GO:0031069)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organismal aging (GO:0010259)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular senescence (GO:2000773)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mesoderm development (GO:2000381)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|odontogenesis of dentin-containing tooth (GO:0042475)|polarized epithelial cell differentiation (GO:0030859)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-anal tail morphogenesis (GO:0036342)|prostatic bud formation (GO:0060513)|protein homotetramerization (GO:0051289)|proximal/distal pattern formation (GO:0009954)|regulation of epidermal cell division (GO:0010482)|regulation of neuron apoptotic process (GO:0043523)|response to gamma radiation (GO:0010332)|response to X-ray (GO:0010165)|skeletal system development (GO:0001501)|smooth muscle tissue development (GO:0048745)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|sympathetic nervous system development (GO:0048485)|urinary bladder development (GO:0060157)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding transcription factor activity (GO:0000989)|transcription regulatory region DNA binding (GO:0044212)|WW domain binding (GO:0050699)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ATGACCCCACCTCCTCAGGGA	0.537										HNSCC(45;0.13)																																							0													147.0	146.0	146.0					3																	189582097		2203	4300	6503	SO:0001583	missense	8626			AB010153	CCDS3293.1, CCDS46976.1, CCDS46977.1, CCDS46978.1, CCDS46979.1, CCDS46980.1	3q27-q29	2014-09-17			ENSG00000073282	ENSG00000073282			15979	protein-coding gene	gene with protein product		603273	"""tumor protein p73-like"", ""tumor protein p53-like"", ""tumor protein p53-competing protein"""	TP73L, TP53L, TP53CP		9774969, 9662378, 11181441, 11181451	Standard	NM_003722		Approved	p51, SHFM4, EEC3, p63, p73L, OFC8, KET, p73H, NBP, p53CP	uc003fry.2	Q9H3D4	OTTHUMG00000156313	ENST00000264731.3:c.656C>T	3.37:g.189582097C>T	ENSP00000264731:p.Pro219Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75080|O75195|O75922|O76078|Q6VEG2|Q6VEG3|Q6VEG4|Q6VFJ1|Q6VFJ2|Q6VFJ3|Q6VH20|Q7LDI3|Q7LDI4|Q7LDI5|Q96KR0|Q9H3D2|Q9H3D3|Q9H3P8|Q9NPH7|Q9P1B4|Q9P1B5|Q9P1B6|Q9P1B7|Q9UBV9|Q9UE10|Q9UP26|Q9UP27|Q9UP28|Q9UP74	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.P219L	ENST00000264731.3	37	c.656	CCDS3293.1	3	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135649	0.77662	.	.	ENSG00000073282	ENST00000264731;ENST00000418709;ENST00000320472;ENST00000392460;ENST00000440651;ENST00000382063;ENST00000354600;ENST00000437221;ENST00000392463;ENST00000392461;ENST00000449992;ENST00000456148	D;D;D;D;D;D;D;D;D;D;D;D	0.99885	-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5;-7.5	5.36	4.48	0.54585	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.051039	0.85682	N	0.000000	D	0.99851	0.9931	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D	0.96597	0.9442	9	.	.	.	-10.753	13.5442	0.61693	0.0:0.9245:0.0:0.0755	.	40;219;219;125;125;125;125;219;219;219	Q9H3D4-10;Q9H3D4-7;Q9H3D4-11;Q9H3D4-4;Q9H3D4-2;Q9H3D4-6;C9D7C9;Q9H3D4-3;Q9H3D4;Q9H3D4-5	.;.;.;.;.;.;.;.;P63_HUMAN;.	L	219;219;219;219;219;134;125;125;125;125;40;125	ENSP00000264731:P219L;ENSP00000407144:P219L;ENSP00000317510:P219L;ENSP00000376253:P219L;ENSP00000394337:P219L;ENSP00000371495:P134L;ENSP00000346614:P125L;ENSP00000392488:P125L;ENSP00000376256:P125L;ENSP00000376254:P125L;ENSP00000387839:P40L;ENSP00000389485:P125L	.	P	+	2	0	TP63	191064791	1.000000	0.71417	0.948000	0.38648	0.511000	0.34104	6.050000	0.71063	1.391000	0.46566	0.655000	0.94253	CCT	TP63	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd		0.537	TP63-001	KNOWN	basic|CCDS	protein_coding	TP63	HGNC	protein_coding	OTTHUMT00000343865.1	C	NM_003722		189582097	+1	no_errors	ENST00000264731	ensembl	human	known	70_37	missense	SNP	1.000	T
TRERF1	55809	genome.wustl.edu	37	6	42236026	42236026	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:42236026C>A	ENST00000372922.4	-	5	1865	c.1303G>T	c.(1303-1305)Gac>Tac	p.D435Y	TRERF1_ENST00000340840.2_Missense_Mutation_p.D435Y|TRERF1_ENST00000541110.1_Missense_Mutation_p.D435Y|TRERF1_ENST00000372917.4_Missense_Mutation_p.D435Y|TRERF1_ENST00000354325.2_Missense_Mutation_p.D435Y	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	435					cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTCGCTGGGTCTCCCATTCCT	0.632																																																	0													50.0	54.0	52.0					6																	42236026		2203	4300	6503	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.1303G>T	6.37:g.42236026C>A	ENSP00000362013:p.Asp435Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.D435Y	ENST00000372922.4	37	c.1303	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	14.70	2.612886	0.46631	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.15603	2.54;2.41;2.57;2.41;2.41	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000017	T	0.20251	0.0487	L	0.27053	0.805	0.35181	D	0.772498	D;D;D;D;D	0.65815	0.995;0.991;0.991;0.995;0.995	P;P;P;P;P	0.61201	0.885;0.77;0.77;0.885;0.885	T	0.01596	-1.1316	10	0.59425	D	0.04	-25.175	19.6316	0.95708	0.0:1.0:0.0:0.0	.	435;435;435;274;274	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	Y	435	ENSP00000439689:D435Y;ENSP00000362008:D435Y;ENSP00000362013:D435Y;ENSP00000339438:D435Y;ENSP00000346285:D435Y	ENSP00000339438:D435Y	D	-	1	0	TRERF1	42344004	0.999000	0.42202	1.000000	0.80357	0.634000	0.38068	2.719000	0.47244	2.735000	0.93741	0.561000	0.74099	GAC	TRERF1	-	NULL		0.632	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	C	NM_033502		42236026	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	missense	SNP	0.997	A
TRIP11	9321	genome.wustl.edu	37	14	92484032	92484032	+	Silent	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr14:92484032G>T	ENST00000267622.4	-	5	1024	c.651C>A	c.(649-651)atC>atA	p.I217I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	217					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTACCTTAATGATATTTTGTA	0.289			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													88.0	78.0	81.0					14																	92484032		2201	4297	6498	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.651C>A	14.37:g.92484032G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Silent	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.I217	ENST00000267622.4	37	c.651	CCDS9899.1	14																																																																																			TRIP11	-	NULL		0.289	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	G			92484032	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	silent	SNP	0.939	T
TRRAP	8295	genome.wustl.edu	37	7	98547391	98547391	+	Missense_Mutation	SNP	C	C	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:98547391C>T	ENST00000359863.4	+	36	5250	c.5041C>T	c.(5041-5043)Cgc>Tgc	p.R1681C	TRRAP_ENST00000446306.3_Missense_Mutation_p.R1662C|TRRAP_ENST00000355540.3_Missense_Mutation_p.R1663C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1681					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGAGAGGCACCGCAAGGAGAA	0.592																																																	0													74.0	67.0	69.0					7																	98547391		2203	4300	6503	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.5041C>T	7.37:g.98547391C>T	ENSP00000352925:p.Arg1681Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R1681C	ENST00000359863.4	37	c.5041	CCDS59066.1	7	.	.	.	.	.	.	.	.	.	.	C	20.8	4.058187	0.76074	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.03330	3.97;3.97	5.84	5.84	0.93424	.	0.128652	0.53938	D	0.000056	T	0.06690	0.0171	N	0.11927	0.2	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.997	P;P;P	0.58820	0.846;0.563;0.706	T	0.50575	-0.8812	10	0.48119	T	0.1	.	15.5246	0.75894	0.1384:0.8616:0.0:0.0	.	1663;1402;1681	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	C	1681;1663;1661	ENSP00000352925:R1681C;ENSP00000347733:R1663C	ENSP00000347733:R1663C	R	+	1	0	TRRAP	98385327	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	5.913000	0.69957	2.779000	0.95612	0.655000	0.94253	CGC	TRRAP	-	superfamily_ARM-type_fold		0.592	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRRAP	HGNC	protein_coding	OTTHUMT00000317978.1	C	NM_003496		98547391	+1	no_errors	ENST00000359863	ensembl	human	known	70_37	missense	SNP	1.000	T
TXNDC5	81567	genome.wustl.edu	37	6	7895362	7895362	+	Missense_Mutation	SNP	T	T	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr6:7895362T>G	ENST00000379757.4	-	4	630	c.593A>C	c.(592-594)aAc>aCc	p.N198T	TXNDC5_ENST00000473453.1_Missense_Mutation_p.N90T|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000539054.1_Missense_Mutation_p.N126T	NM_030810.3	NP_110437.2	Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)	198	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	protein disulfide isomerase activity (GO:0003756)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CAGCTCAAAGTTGCTTGCTGA	0.532																																					Ovarian(119;1430 1625 3928 26125 34589)												0													77.0	58.0	65.0					6																	7895362		2203	4300	6503	SO:0001583	missense	81567			AK025006	CCDS4505.1, CCDS47369.1	6p24.3	2011-10-19	2009-02-23		ENSG00000239264	ENSG00000239264		"""Protein disulfide isomerases"""	21073	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 15"""		"""thioredoxin domain containing 5"""				Standard	NM_001145549		Approved	MGC3178, FLJ21353, FLJ90810, EndoPDI, Hcc-2, ERp46, PDIA15	uc003mxv.3	Q8NBS9	OTTHUMG00000014216	ENST00000379757.4:c.593A>C	6.37:g.7895362T>G	ENSP00000369081:p.Asn198Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDM2|Q5TCQ0|Q8ND33|Q8TCT2|Q9BVH9	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.N198T	ENST00000379757.4	37	c.593	CCDS4505.1	6	.	.	.	.	.	.	.	.	.	.	.	8.597	0.885945	0.17540	.	.	ENSG00000239264	ENST00000539054;ENST00000379757;ENST00000473453	T;T;T	0.45276	0.9;0.9;0.9	5.47	5.47	0.80525	Thioredoxin domain (1);Thioredoxin-like fold (3);Disulphide isomerase (1);	0.000000	0.85682	D	0.000000	T	0.33962	0.0881	N	0.26042	0.785	0.58432	D	0.999999	B;D	0.89917	0.07;1.0	B;D	0.91635	0.135;0.999	T	0.17561	-1.0365	10	0.07030	T	0.85	.	15.5629	0.76262	0.0:0.0:0.0:1.0	.	126;198	Q86UY0;Q8NBS9	.;TXND5_HUMAN	T	126;198;90	ENSP00000442453:N126T;ENSP00000369081:N198T;ENSP00000420784:N90T	ENSP00000442453:N126T	N	-	2	0	TXNDC5	7840361	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	3.745000	0.55119	2.065000	0.61736	0.533000	0.62120	AAC	TXNDC5	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase		0.532	TXNDC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNDC5	HGNC	protein_coding	OTTHUMT00000039792.1	T	NM_030810		7895362	-1	no_errors	ENST00000379757	ensembl	human	known	70_37	missense	SNP	1.000	G
UBR1	197131	genome.wustl.edu	37	15	43335480	43335480	+	Silent	SNP	T	T	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr15:43335480T>C	ENST00000290650.4	-	15	1860	c.1782A>G	c.(1780-1782)gaA>gaG	p.E594E	UBR1_ENST00000382177.2_Silent_p.E594E	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	594					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AGGACTTTGTTTCCAAACTAT	0.403																																																	0													167.0	142.0	150.0					15																	43335480		2203	4299	6502	SO:0001819	synonymous_variant	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.1782A>G	15.37:g.43335480T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Silent	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E594	ENST00000290650.4	37	c.1782	CCDS10091.1	15																																																																																			UBR1	-	NULL		0.403	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	T	NM_174916		43335480	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	silent	SNP	0.975	C
UGT2B10	7365	genome.wustl.edu	37	4	69692182	69692182	+	Missense_Mutation	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr4:69692182C>A	ENST00000265403.7	+	4	1081	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	UGT2B10_ENST00000458688.2_Missense_Mutation_p.L268M	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	352					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CAATACTCGACTGTACAAGTG	0.383																																					Melanoma(133;755 1763 25578 26334 46021)												0													146.0	138.0	141.0					4																	69692182		2203	4299	6502	SO:0001583	missense	7365			X63359	CCDS75135.1, CCDS75136.1	4q13.3	2008-02-05	2005-07-20			ENSG00000109181		"""UDP glucuronosyltransferases"""	12544	protein-coding gene	gene with protein product		600070	"""UDP glycosyltransferase 2 family, polypeptide B10"""			8333863	Standard	NM_001075		Approved		uc003hee.3	P36537		ENST00000265403.7:c.1054C>A	4.37:g.69692182C>A	ENSP00000265403:p.Leu352Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9M3|B4DPP1|Q14CR8	Missense_Mutation	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L352M	ENST00000265403.7	37	c.1054		4	.	.	.	.	.	.	.	.	.	.	c	5.046	0.194165	0.09599	.	.	ENSG00000109181	ENST00000265403;ENST00000458688	T;T	0.67523	-0.27;-0.27	2.25	-0.362	0.12560	.	0.798952	0.09705	U	0.766496	T	0.75004	0.3791	M	0.87328	2.875	0.09310	N	1	P;D	0.57899	0.839;0.981	P;P	0.54759	0.591;0.76	T	0.63157	-0.6700	10	0.87932	D	0	.	3.8616	0.08998	0.4278:0.3695:0.2028:0.0	.	268;352	B4DPP1;P36537	.;UDB10_HUMAN	M	352;268	ENSP00000265403:L352M;ENSP00000413420:L268M	ENSP00000265403:L352M	L	+	1	2	UGT2B10	69726771	0.001000	0.12720	0.775000	0.31657	0.011000	0.07611	0.270000	0.18607	0.130000	0.18549	0.184000	0.17185	CTG	UGT2B10	-	pfam_UDP_glucos_trans		0.383	UGT2B10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal	protein_coding	UGT2B10	HGNC	protein_coding	OTTHUMT00000365169.1	C	NM_001075		69692182	+1	no_errors	ENST00000265403	ensembl	human	known	70_37	missense	SNP	0.014	A
UNC93B1	81622	genome.wustl.edu	37	11	67759287	67759287	+	Silent	SNP	C	C	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr11:67759287C>A	ENST00000227471.2	-	12	1600	c.1521G>T	c.(1519-1521)gcG>gcT	p.A507A	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	508					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|intracellular protein transport (GO:0006886)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	early phagosome (GO:0032009)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)		p.A507A(1)									GGTAGGAGACCGCGGCCGCCA	0.741																																																	1	Substitution - coding silent(1)	prostate(1)											2.0	2.0	2.0					11																	67759287		721	1664	2385	SO:0001819	synonymous_variant	81622			AJ271326	CCDS73334.1	11q13.2	2014-09-17	2001-11-28		ENSG00000110057	ENSG00000110057			13481	protein-coding gene	gene with protein product		608204	"""unc93 (C. elegans) homolog B1"""			11867227	Standard	NM_030930		Approved	UNC93	uc001omw.1	Q9H1C4	OTTHUMG00000167472	ENST00000227471.2:c.1521G>T	11.37:g.67759287C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95764|Q569H6|Q710D4	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.A507	ENST00000227471.2	37	c.1521		11																																																																																			UNC93B1	-	NULL		0.741	UNC93B1-201	KNOWN	basic|appris_principal	protein_coding	UNC93B1	HGNC	protein_coding		C	NM_030930		67759287	-1	no_errors	ENST00000227471	ensembl	human	known	70_37	silent	SNP	0.000	A
VEZT	55591	genome.wustl.edu	37	12	95663916	95663916	+	Missense_Mutation	SNP	G	G	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr12:95663916G>C	ENST00000436874.1	+	6	905	c.800G>C	c.(799-801)aGa>aCa	p.R267T	VEZT_ENST00000261219.6_Missense_Mutation_p.R219T|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	267					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CGAACTCTAAGAGCCAACTTC	0.428																																																	0													55.0	52.0	53.0					12																	95663916		1892	4107	5999	SO:0001583	missense	55591			AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.800G>C	12.37:g.95663916G>C	ENSP00000410083:p.Arg267Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	NULL	p.R267T	ENST00000436874.1	37	c.800	CCDS44954.1	12	.	.	.	.	.	.	.	.	.	.	G	29.2	4.985768	0.93044	.	.	ENSG00000028203	ENST00000436874;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T	0.46451	0.87;0.87;0.87	6.03	6.03	0.97812	.	0.043171	0.85682	D	0.000000	T	0.51398	0.1672	M	0.62723	1.935	0.58432	D	0.999999	P;D;P;D	0.60160	0.811;0.987;0.947;0.957	B;P;B;P	0.48368	0.433;0.575;0.439;0.575	T	0.39941	-0.9589	10	0.30854	T	0.27	-37.1181	20.5568	0.99304	0.0:0.0:1.0:0.0	.	267;267;223;219	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	T	267;219;223;267	ENSP00000410083:R267T;ENSP00000261219:R219T;ENSP00000380894:R223T	ENSP00000261219:R219T	R	+	2	0	VEZT	94188047	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.656000	0.83736	2.861000	0.98227	0.655000	0.94253	AGA	VEZT	-	NULL		0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VEZT	HGNC	protein_coding	OTTHUMT00000407804.2	G	NM_017599		95663916	+1	no_errors	ENST00000436874	ensembl	human	known	70_37	missense	SNP	1.000	C
VWA5B1	127731	genome.wustl.edu	37	1	20645121	20645121	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr1:20645121G>T	ENST00000375079.2	+	6	944	c.748G>T	c.(748-750)Gcc>Tcc	p.A250S	VWA5B1_ENST00000375083.4_Missense_Mutation_p.A250S|VWA5B1_ENST00000289825.4_5'UTR|RP4-745E8.2_ENST00000444923.1_RNA|VWA5B1_ENST00000289815.8_Missense_Mutation_p.A250S	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	250						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						TGCCGACGCCGCCCCATCTGC	0.592																																																	0													64.0	63.0	63.0					1																	20645121		692	1591	2283	SO:0001583	missense	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.748G>T	1.37:g.20645121G>T	ENSP00000364220:p.Ala250Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Missense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.A250S	ENST00000375079.2	37	c.748		1	.	.	.	.	.	.	.	.	.	.	G	11.27	1.588170	0.28357	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000375079	T;T;T	0.04156	3.92;3.69;3.92	5.54	3.59	0.41128	.	0.111661	0.64402	D	0.000015	T	0.02970	0.0088	N	0.17474	0.49	0.80722	D	1	P;B	0.41393	0.748;0.401	B;B	0.36378	0.101;0.223	T	0.54629	-0.8265	10	0.09084	T	0.74	-16.2591	13.7384	0.62833	0.0:0.0:0.7209:0.2791	.	250;250	Q5TIE3;Q5TIE3-2	VW5B1_HUMAN;.	S	250	ENSP00000289815:A250S;ENSP00000364224:A250S;ENSP00000364220:A250S	ENSP00000289815:A250S	A	+	1	0	VWA5B1	20517708	1.000000	0.71417	0.886000	0.34754	0.659000	0.38960	3.603000	0.54074	1.337000	0.45525	0.460000	0.39030	GCC	VWA5B1	-	NULL		0.592	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	G	XM_001722222		20645121	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	missense	SNP	0.991	T
XKR9	389668	genome.wustl.edu	37	8	71646350	71646350	+	Silent	SNP	T	T	A			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr8:71646350T>A	ENST00000408926.3	+	5	1347	c.813T>A	c.(811-813)ctT>ctA	p.L271L	XKR9_ENST00000520273.1_Intron|XKR9_ENST00000520030.1_Silent_p.L271L	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	271						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTCATTCTTATCTTTACAT	0.313																																																	0													88.0	87.0	87.0					8																	71646350		2203	4299	6502	SO:0001819	synonymous_variant	389668			AY534247	CCDS34905.1	8q13.3	2006-01-12	2006-01-12			ENSG00000221947			20937	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 9"""				Standard	NM_001287258		Approved		uc003xyq.3	Q5GH70		ENST00000408926.3:c.813T>A	8.37:g.71646350T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNS9|B9EH74	Silent	SNP	pfam_Transport_prot_XK	p.L271	ENST00000408926.3	37	c.813	CCDS34905.1	8																																																																																			XKR9	-	pfam_Transport_prot_XK		0.313	XKR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR9	HGNC	protein_coding	OTTHUMT00000378752.1	T	NM_001011720		71646350	+1	no_errors	ENST00000408926	ensembl	human	known	70_37	silent	SNP	0.044	A
XKRX	402415	genome.wustl.edu	37	X	100169463	100169463	+	Missense_Mutation	SNP	A	A	C			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:100169463A>C	ENST00000372956.2	-	3	1818	c.1214T>G	c.(1213-1215)tTg>tGg	p.L405W	XKRX_ENST00000328526.5_Missense_Mutation_p.L418W|XKRX_ENST00000468904.1_3'UTR			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	405						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CAATGGATGCAAGTACTGGAA	0.458																																																	0													187.0	154.0	165.0					X																	100169463		2203	4300	6503	SO:0001583	missense	402415			AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.1214T>G	X.37:g.100169463A>C	ENSP00000362047:p.Leu405Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.L418W	ENST00000372956.2	37	c.1253	CCDS14476.2	X	.	.	.	.	.	.	.	.	.	.	A	18.42	3.620252	0.66787	.	.	ENSG00000182489	ENST00000328526;ENST00000372956	T;T	0.70749	-0.51;-0.51	5.74	5.74	0.90152	.	0.121518	0.56097	D	0.000023	T	0.81322	0.4798	L	0.56769	1.78	0.46499	D	0.999071	D	0.89917	1.0	D	0.81914	0.995	T	0.81837	-0.0749	10	0.49607	T	0.09	-10.2362	14.9852	0.71342	1.0:0.0:0.0:0.0	.	405	Q6PP77	XKR2_HUMAN	W	418;405	ENSP00000327570:L418W;ENSP00000362047:L405W	ENSP00000327570:L418W	L	-	2	0	XKRX	100056119	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.652000	0.46682	1.921000	0.55644	0.437000	0.28790	TTG	XKRX	-	pfam_Transport_prot_XK		0.458	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKRX	HGNC	protein_coding	OTTHUMT00000057501.3	A	NM_212559		100169463	-1	no_errors	ENST00000328526	ensembl	human	known	70_37	missense	SNP	1.000	C
ZAN	7455	genome.wustl.edu	37	7	100365528	100365528	+	RNA	SNP	C	C	T	rs377081331	byFrequency	TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:100365528C>T	ENST00000348028.3	+	0	5100				ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000542585.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000421100.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCAGCAACCTCGTCCTCCTCT	0.607													c|||	2	0.000399361	0.0	0.0014	5008	,	,		18239	0.0		0.001	False		,,,				2504	0.0																0								C	,	1,4189		0,1,2094	64.0	68.0	67.0		4935,4935	-6.4	0.0	7		67	4,8420		0,4,4208	no	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,5,6302	TT,TC,CC		0.0475,0.0239,0.0396	,	1645/2813,1645/2722	100365528	5,12609	2095	4212	6307			7455			U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100365528C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Silent	SNP	pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom	p.L1645	ENST00000348028.3	37	c.4935		7																																																																																			ZAN	-	pfam_VWF_type-D,smart_VWF_type-D		0.607	ZAN-006	KNOWN	basic	polymorphic_pseudogene	ZAN	HGNC	polymorphic_pseudogene	OTTHUMT00000347214.1	C	NM_003386		100365528	+1	no_errors	ENST00000546292	ensembl	human	known	70_37	silent	SNP	0.001	T
ZNF599	148103	genome.wustl.edu	37	19	35258275	35258275	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:35258275G>T	ENST00000329285.8	-	3	560	c.187C>A	c.(187-189)Cat>Aat	p.H63N	ZNF599_ENST00000588760.1_Missense_Mutation_p.H63N|ZNF599_ENST00000587354.2_Missense_Mutation_p.H63N	NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TCCTGTCCATGTTCCAGTAGA	0.517																																																	0													114.0	93.0	100.0					19																	35258275		2203	4300	6503	SO:0001583	missense	148103			AK055225	CCDS32991.1	19q13.13	2013-01-08				ENSG00000153896		"""Zinc fingers, C2H2-type"", ""-"""	26408	protein-coding gene	gene with protein product							Standard	NM_001007248		Approved	FLJ30663	uc010edn.1	Q96NL3		ENST00000329285.8:c.187C>A	19.37:g.35258275G>T	ENSP00000333802:p.His63Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q569K0|Q5PRG1	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.H63N	ENST00000329285.8	37	c.187	CCDS32991.1	19	.	.	.	.	.	.	.	.	.	.	G	10.82	1.456961	0.26161	.	.	ENSG00000153896	ENST00000392231;ENST00000329285;ENST00000379196	T	0.00724	5.78	2.76	-0.582	0.11709	Krueppel-associated box (3);	.	.	.	.	T	0.00637	0.0021	N	0.25094	0.71	0.09310	N	1	B	0.22851	0.076	B	0.17979	0.02	T	0.46803	-0.9165	9	0.59425	D	0.04	.	3.3672	0.07207	0.3827:0.2061:0.4112:0.0	.	63	Q96NL3	ZN599_HUMAN	N	62;63;57	ENSP00000333802:H63N	ENSP00000333802:H63N	H	-	1	0	ZNF599	39950115	0.000000	0.05858	0.000000	0.03702	0.588000	0.36517	-0.477000	0.06583	-0.028000	0.13850	0.491000	0.48974	CAT	ZNF599	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.517	ZNF599-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF599	HGNC	protein_coding	OTTHUMT00000460648.2	G	XM_086046		35258275	-1	no_errors	ENST00000329285	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF283	284349	genome.wustl.edu	37	19	44351423	44351423	+	Missense_Mutation	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:44351423C>G	ENST00000324461.7	+	7	967	c.670C>G	c.(670-672)Caa>Gaa	p.Q224E	ZNF283_ENST00000588797.1_Missense_Mutation_p.Q85E	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	224					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAAACTTGTTCAACATGAGAG	0.353																																																	0													58.0	63.0	61.0					19																	44351423		2080	4247	6327	SO:0001583	missense	284349			AK098175	CCDS46097.1, CCDS74387.1	19q13.31	2013-01-08			ENSG00000167637	ENSG00000167637		"""Zinc fingers, C2H2-type"", ""-"""	13077	protein-coding gene	gene with protein product						12743021	Standard	NM_181845		Approved		uc002oxr.4	Q8N7M2		ENST00000324461.7:c.670C>G	19.37:g.44351423C>G	ENSP00000327314:p.Gln224Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGZ5|B7WP04|Q6RFR9|Q86WM6	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.Q224E	ENST00000324461.7	37	c.670	CCDS46097.1	19	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.712038	0.00712	.	.	ENSG00000167637	ENST00000324461	T	0.16324	2.35	3.58	-0.284	0.12870	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.10165	0.0249	N	0.21545	0.675	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.37979	-0.9682	9	0.09338	T	0.73	.	12.2788	0.54753	0.0:0.5123:0.4877:0.0	.	224	Q8N7M2	ZN283_HUMAN	E	224	ENSP00000327314:Q224E	ENSP00000327314:Q224E	Q	+	1	0	ZNF283	49043263	0.000000	0.05858	0.111000	0.21465	0.767000	0.43475	-0.688000	0.05150	0.288000	0.22398	0.563000	0.77884	CAA	ZNF283	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.353	ZNF283-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF283	HGNC	protein_coding	OTTHUMT00000459909.1	C	NM_181845		44351423	+1	no_errors	ENST00000324461	ensembl	human	known	70_37	missense	SNP	0.000	G
ZNF783	100289678	genome.wustl.edu	37	7	148964012	148964012	+	Missense_Mutation	SNP	A	A	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr7:148964012A>G	ENST00000434415.1	+	3	686	c.523A>G	c.(523-525)Aac>Gac	p.N175D		NM_001195220.1	NP_001182149.1	Q6ZMS7	ZN783_HUMAN	zinc finger family member 783	175	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)	22	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.0014)			GATGAGGGGCAACTACGAGAC	0.577																																																	0													244.0	197.0	213.0					7																	148964012		2203	4300	6503	SO:0001583	missense	100289678			AK131504	CCDS56519.1	7q36.1	2013-01-08	2008-05-28		ENSG00000204946	ENSG00000204946		"""Zinc fingers, C2H2-type"", ""-"""	27222	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_001195220		Approved	DKFZp667J212	uc011kuo.2	Q6ZMS7	OTTHUMG00000158969	ENST00000434415.1:c.523A>G	7.37:g.148964012A>G	ENSP00000410890:p.Asn175Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J9J2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.N175D	ENST00000434415.1	37	c.523	CCDS56519.1	7	.	.	.	.	.	.	.	.	.	.	A	21.6	4.175213	0.78564	.	.	ENSG00000204946	ENST00000434415	T	0.03635	3.86	4.89	4.89	0.63831	.	0.000000	0.36066	N	0.002817	T	0.24624	0.0597	H	0.94808	3.585	0.80722	D	1	.	.	.	.	.	.	T	0.16453	-1.0402	8	0.87932	D	0	-14.8255	12.4738	0.55801	1.0:0.0:0.0:0.0	.	.	.	.	D	175	ENSP00000410890:N175D	ENSP00000367291:N175D	N	+	1	0	ZNF783	148594945	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.890000	0.56220	1.839000	0.53478	0.459000	0.35465	AAC	ZNF783	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.577	ZNF783-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF783	HGNC	protein_coding	OTTHUMT00000352715.1	A	NM_001195220		148964012	+1	no_errors	ENST00000434415	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF81	347344	genome.wustl.edu	37	X	47755252	47755252	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chrX:47755252G>T	ENST00000376954.1	+	5	558	c.190G>T	c.(190-192)Gtt>Ttt	p.V64F	ZNF81_ENST00000338637.7_Missense_Mutation_p.V64F			P51508	ZNF81_HUMAN	zinc finger protein 81	64	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGGGTTCGAAGTTCCTAAACC	0.483																																																	0													78.0	73.0	75.0					X																	47755252		2200	4300	6500	SO:0001583	missense	347344			AK126949	CCDS43933.1	Xp11.23	2013-01-08	2006-05-12		ENSG00000197779	ENSG00000197779		"""Zinc fingers, C2H2-type"", ""-"""	13156	protein-coding gene	gene with protein product		314998	"""zinc finger protein 81 (HFZ20)"", ""mental retardation, X-linked 45"""	MRX45		8507979, 15121780	Standard	NM_007137		Approved	HFZ20	uc022bvq.1	P51508	OTTHUMG00000021462	ENST00000376954.1:c.190G>T	X.37:g.47755252G>T	ENSP00000366153:p.Val64Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6RX22|Q96QH6	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.V64F	ENST00000376954.1	37	c.190	CCDS43933.1	X	.	.	.	.	.	.	.	.	.	.	G	5.620	0.299192	0.10622	.	.	ENSG00000197779	ENST00000376954;ENST00000338637;ENST00000376950;ENST00000399918	T;T;T	0.48522	0.81;0.81;0.81	4.06	0.253	0.15551	Krueppel-associated box (3);	0.190320	0.26003	N	0.026933	T	0.34048	0.0884	L	0.48986	1.54	0.23063	N	0.998355	P	0.36065	0.535	B	0.34722	0.188	T	0.15723	-1.0427	10	0.27082	T	0.32	.	6.4494	0.21896	0.4712:0.0:0.5288:0.0	.	64	P51508	ZNF81_HUMAN	F	64	ENSP00000366153:V64F;ENSP00000341151:V64F;ENSP00000366149:V64F	ENSP00000341151:V64F	V	+	1	0	ZNF81	47640196	0.998000	0.40836	0.696000	0.30242	0.151000	0.21798	0.498000	0.22530	-0.202000	0.10268	-0.198000	0.12761	GTT	ZNF81	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.483	ZNF81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF81	HGNC	protein_coding	OTTHUMT00000056455.2	G	NM_007137		47755252	+1	no_errors	ENST00000338637	ensembl	human	known	70_37	missense	SNP	0.699	T
ZNF833P	401898	genome.wustl.edu	37	19	11796725	11796725	+	lincRNA	SNP	C	C	G			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr19:11796725C>G	ENST00000344893.3	+	0	2724					NR_028594.1		Q6ZTB9	ZN833_HUMAN	zinc finger protein 833, pseudogene								metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	5						GGACTCACATCAGAGAAAAGT	0.373																																																	0																																												401898			BC137336		19p13.2	2010-08-03	2010-08-03	2010-08-03	ENSG00000197332	ENSG00000197332			33819	pseudogene	pseudogene			"""zinc finger protein 833"""	ZNF833			Standard	NR_028594		Approved		uc021upi.1	Q6ZTB9	OTTHUMG00000156530		19.37:g.11796725C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA0	RNA	SNP	-	NULL	ENST00000344893.3	37	NULL		19																																																																																			ZNF833P	-	-		0.373	ZNF833P-001	KNOWN	basic|readthrough_transcript	lincRNA	ZNF833P	HGNC	lincRNA	OTTHUMT00000458891.1	C	NM_001013691		11796725	+1	no_errors	ENST00000344893	ensembl	human	known	70_37	rna	SNP	0.979	G
ZRSR1	7310	genome.wustl.edu	37	5	112228015	112228015	+	Missense_Mutation	SNP	G	G	T			TCGA-R2-A69V-01A-11D-A32I-09	TCGA-R2-A69V-10A-01D-A32I-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14e16f58-9c59-458e-bea5-426b858e81e6	31d332f4-54a6-44f0-bf12-0576e83c21ed	g.chr5:112228015G>T	ENST00000391338.1	+	1	703	c.679G>T	c.(679-681)Gac>Tac	p.D227Y	CTC-487M23.8_ENST00000512790.1_3'UTR|REEP5_ENST00000545426.1_Intron|REEP5_ENST00000513339.1_Intron|CTC-487M23.5_ENST00000602872.1_RNA|CTC-487M23.8_ENST00000506997.1_3'UTR|REEP5_ENST00000379638.4_Intron|REEP5_ENST00000474542.2_Intron|REEP5_ENST00000504247.1_Intron	NM_001204199.1	NP_001191128.1	Q15695	U2AFL_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 1	227	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.					nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|skin(1)|stomach(2)	4						CTATGACCCTGACGCAAGCCT	0.453																																																	0																																										SO:0001583	missense	7310			D49676		5q22.2	2013-02-12	2006-09-26	2006-09-26	ENSG00000212643	ENSG00000212643		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	12456	protein-coding gene	gene with protein product	"""U2(RNU2) small nuclear RNA auxiliary factor pseudogene 1"""	601079	"""U2(RNU2) small nuclear RNA auxiliary factor binding protein-like"", ""U2(RNU2) small nuclear RNA auxillary factor 1-like 1"", ""U2 small nuclear RNA auxillary factor 1-like 1"""	U2AFBPL, U2AF1P, U2AF1L1		7956352	Standard	NG_005419		Approved	U2AF1-RS1, U2AF1RS1	uc021ycm.1	Q15695	OTTHUMG00000163143	ENST00000391338.1:c.679G>T	5.37:g.112228015G>T	ENSP00000375133:p.Asp227Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R901|Q13570|Q2M3R8	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small	p.D227Y	ENST00000391338.1	37	c.679		5	.	.	.	.	.	.	.	.	.	.	G	11.62	1.693202	0.30052	.	.	ENSG00000212643	ENST00000391338	.	.	.	1.58	0.668	0.17912	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.69878	0.3160	.	.	.	0.54753	D	0.999988	D	0.89917	1.0	D	0.83275	0.996	T	0.67632	-0.5621	8	0.87932	D	0	.	6.0336	0.19694	0.1882:0.0:0.8118:0.0	.	227	Q15695	U2AFL_HUMAN	Y	227	.	ENSP00000375133:D227Y	D	+	1	0	ZRSR1	112255914	1.000000	0.71417	0.135000	0.22099	0.415000	0.31203	6.288000	0.72679	0.212000	0.20703	-0.373000	0.07131	GAC	ZRSR1	-	smart_RRM_dom_euk,pfscan_RRM_dom		0.453	ZRSR1-001	KNOWN	basic|appris_principal	protein_coding	ZRSR1	HGNC	protein_coding	OTTHUMT00000371801.1	G	NM_005083		112228015	+1	no_errors	ENST00000391338	ensembl	human	known	70_37	missense	SNP	0.999	T
