#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA5	23461	genome.wustl.edu	37	17	67261034	67261034	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:67261034T>C	ENST00000392676.3	-	24	3221	c.3157A>G	c.(3157-3159)Act>Gct	p.T1053A	ABCA5_ENST00000588877.1_Missense_Mutation_p.T1053A|ABCA5_ENST00000392677.2_Missense_Mutation_p.T1054A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1053					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTAAGTTGAGTATAAGCTTTG	0.264																																																	0													52.0	54.0	53.0					17																	67261034		2203	4296	6499	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3157A>G	17.37:g.67261034T>C	ENSP00000376443:p.Thr1053Ala		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1054A	ENST00000392676.3	37	c.3160	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217772	0.39201	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86562	-2.14;-2.14	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000019	D	0.82591	0.5070	L	0.45137	1.4	0.42507	D	0.992956	P	0.41498	0.752	B	0.41988	0.372	T	0.81387	-0.0956	9	.	.	.	.	10.3841	0.44129	0.1461:0.0:0.0:0.8539	.	1053	Q8WWZ7	ABCA5_HUMAN	A	1054;1053	ENSP00000376444:T1054A;ENSP00000376443:T1053A	.	T	-	1	0	ABCA5	64772629	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.359000	0.66074	2.043000	0.60533	0.379000	0.24179	ACT	ABCA5	-	NULL		0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	T	NM_018672		67261034	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	C
ABCA5	23461	genome.wustl.edu	37	17	67261034	67261034	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:67261034T>C	ENST00000392676.3	-	24	3221	c.3157A>G	c.(3157-3159)Act>Gct	p.T1053A	ABCA5_ENST00000588877.1_Missense_Mutation_p.T1053A|ABCA5_ENST00000392677.2_Missense_Mutation_p.T1054A			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1053					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TTAAGTTGAGTATAAGCTTTG	0.264																																																	0													52.0	54.0	53.0					17																	67261034		2203	4296	6499	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.3157A>G	17.37:g.67261034T>C	ENSP00000376443:p.Thr1053Ala		Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.T1054A	ENST00000392676.3	37	c.3160	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	T	13.37	2.217772	0.39201	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86562	-2.14;-2.14	5.07	5.07	0.68467	.	0.000000	0.64402	D	0.000019	D	0.82591	0.5070	L	0.45137	1.4	0.42507	D	0.992956	P	0.41498	0.752	B	0.41988	0.372	T	0.81387	-0.0956	9	.	.	.	.	10.3841	0.44129	0.1461:0.0:0.0:0.8539	.	1053	Q8WWZ7	ABCA5_HUMAN	A	1054;1053	ENSP00000376444:T1054A;ENSP00000376443:T1053A	.	T	-	1	0	ABCA5	64772629	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	5.359000	0.66074	2.043000	0.60533	0.379000	0.24179	ACT	ABCA5	-	NULL		0.264	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	T	NM_018672		67261034	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	C
ABCB6	10058	genome.wustl.edu	37	2	220075187	220075187	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:220075187G>A	ENST00000265316.3	-	17	2583	c.2267C>T	c.(2266-2268)gCg>gTg	p.A756V	ABCB6_ENST00000439002.2_Missense_Mutation_p.A710V	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6 (Langereis blood group)	756	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				brain development (GO:0007420)|cellular iron ion homeostasis (GO:0006879)|heme transport (GO:0015886)|porphyrin-containing compound biosynthetic process (GO:0006779)|skin development (GO:0043588)|transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of mitochondrial outer membrane (GO:0031307)|mitochondrial envelope (GO:0005740)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|efflux transmembrane transporter activity (GO:0015562)|heme binding (GO:0020037)|heme transporter activity (GO:0015232)|heme-transporting ATPase activity (GO:0015439)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTATCCAGCGCTGACGTTGC	0.552																																																	0													62.0	57.0	59.0					2																	220075187		2203	4300	6503	SO:0001583	missense	10058			AF070598	CCDS2436.1	2q36	2014-08-27	2014-08-27		ENSG00000115657	ENSG00000115657		"""ATP binding cassette transporters / subfamily B"""	47	protein-coding gene	gene with protein product	"""ATP-binding cassette half-transporter"""	605452	"""ATP-binding cassette, sub-family B (MDR/TAP), member 6"""			8894702, 9110174	Standard	NM_005689		Approved	EST45597, umat, MTABC3	uc002vkc.2	Q9NP58	OTTHUMG00000133131	ENST00000265316.3:c.2267C>T	2.37:g.220075187G>A	ENSP00000265316:p.Ala756Val		O75542|Q49A66|Q59GQ5|Q6ZME6|Q96ME8|Q9HAQ6|Q9HAQ7	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.A756V	ENST00000265316.3	37	c.2267	CCDS2436.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.537771|5.537771	0.96460|0.96460	.|.	.|.	ENSG00000115657|ENSG00000115657	ENST00000265316;ENST00000439002|ENST00000295750	D;D|.	0.84223|.	-1.82;-1.82|.	5.66|5.66	5.66|5.66	0.87406|0.87406	ATPase, AAA+ type, core (1);ABC transporter-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88001|0.88001	0.6320|0.6320	H|H	0.95574|0.95574	3.69|3.69	0.80722|0.80722	D|D	1|1	D;D|.	0.76494|.	0.999;0.999|.	P;P|.	0.60173|.	0.87;0.707|.	D|D	0.91045|0.91045	0.4874|0.4874	10|5	0.87932|.	D|.	0|.	-21.957|-21.957	19.3638|19.3638	0.94453|0.94453	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	710;756|.	Q9NP58-4;Q9NP58|.	.;ABCB6_HUMAN|.	V|C	756;710|604	ENSP00000265316:A756V;ENSP00000394333:A710V|.	ENSP00000265316:A756V|.	A|R	-|-	2|1	0|0	ABCB6|ABCB6	219783431|219783431	1.000000|1.000000	0.71417|0.71417	0.868000|0.868000	0.34077|0.34077	0.932000|0.932000	0.56968|0.56968	9.655000|9.655000	0.98512|0.98512	2.673000|2.673000	0.90976|0.90976	0.650000|0.650000	0.86243|0.86243	GCG|CGC	ABCB6	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.552	ABCB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB6	HGNC	protein_coding	OTTHUMT00000256820.2	G	NM_005689		220075187	-1	no_errors	ENST00000265316	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCB8	11194	genome.wustl.edu	37	7	150739173	150739173	+	Silent	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:150739173C>A	ENST00000297504.6	+	15	1860	c.1794C>A	c.(1792-1794)ccC>ccA	p.P598P	ABCB8_ENST00000542328.1_Silent_p.P493P|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Silent_p.P581P|ABCB8_ENST00000358849.4_Silent_p.P581P			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	598	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCAGCTTCCCCGAGGGCTACA	0.602																																																	0													66.0	66.0	66.0					7																	150739173		2203	4300	6503	SO:0001819	synonymous_variant	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.1794C>A	7.37:g.150739173C>A			A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Silent	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.P598	ENST00000297504.6	37	c.1794		7																																																																																			ABCB8	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCB8-003	KNOWN	basic	protein_coding	ABCB8	HGNC	protein_coding	OTTHUMT00000351733.2	C	NM_007188		150739173	+1	no_errors	ENST00000297504	ensembl	human	known	70_37	silent	SNP	0.000	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84373210	84373210	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:84373210C>G	ENST00000286744.5	+	3	363	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L47V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	47						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGTTTTCTGGAAGACAC	0.453																																																	0													199.0	199.0	199.0					15																	84373210		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.139C>G	15.37:g.84373210C>G	ENSP00000286744:p.Leu47Val		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.L47V	ENST00000286744.5	37	c.139	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740504	0.69304	.	.	ENSG00000156218	ENST00000286744	T	0.64803	-0.12	5.56	4.65	0.58169	.	0.510617	0.17348	N	0.177507	T	0.73009	0.3532	L	0.51422	1.61	0.37255	D	0.906723	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.76132	-0.3071	10	0.56958	D	0.05	.	11.5978	0.50984	0.0:0.857:0.0:0.143	.	47;47	P82987-2;P82987	.;ATL3_HUMAN	V	47	ENSP00000286744:L47V	ENSP00000286744:L47V	L	+	1	2	ADAMTSL3	82164214	1.000000	0.71417	0.897000	0.35233	0.986000	0.74619	3.188000	0.50958	1.363000	0.46019	0.655000	0.94253	CTG	ADAMTSL3	-	NULL		0.453	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	C	NM_207517		84373210	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.988	G
ADAMTSL3	57188	genome.wustl.edu	37	15	84373210	84373210	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:84373210C>G	ENST00000286744.5	+	3	363	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.L47V	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	47						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGAAGTTTTCTGGAAGACAC	0.453																																																	0													199.0	199.0	199.0					15																	84373210		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.139C>G	15.37:g.84373210C>G	ENSP00000286744:p.Leu47Val		A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.L47V	ENST00000286744.5	37	c.139	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	C	18.99	3.740504	0.69304	.	.	ENSG00000156218	ENST00000286744	T	0.64803	-0.12	5.56	4.65	0.58169	.	0.510617	0.17348	N	0.177507	T	0.73009	0.3532	L	0.51422	1.61	0.37255	D	0.906723	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.991	T	0.76132	-0.3071	10	0.56958	D	0.05	.	11.5978	0.50984	0.0:0.857:0.0:0.143	.	47;47	P82987-2;P82987	.;ATL3_HUMAN	V	47	ENSP00000286744:L47V	ENSP00000286744:L47V	L	+	1	2	ADAMTSL3	82164214	1.000000	0.71417	0.897000	0.35233	0.986000	0.74619	3.188000	0.50958	1.363000	0.46019	0.655000	0.94253	CTG	ADAMTSL3	-	NULL		0.453	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	C	NM_207517		84373210	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.988	G
ADCY2	108	genome.wustl.edu	37	5	7692129	7692129	+	Intron	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:7692129C>A	ENST00000338316.4	+	5	958				ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Intron	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)						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)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						agaaatctacccctctggccc	0.502																																																	0																																										SO:0001627	intron_variant	108			AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.869+1177C>A	5.37:g.7692129C>A			B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	RNA	SNP	-	NULL	ENST00000338316.4	37	NULL	CCDS3872.2	5																																																																																			ADCY2	-	-		0.502	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY2	HGNC	protein_coding	OTTHUMT00000206930.2	C	NM_020546		7692129	+1	no_errors	ENST00000513693	ensembl	human	putative	70_37	rna	SNP	0.003	A
AIFM1	9131	genome.wustl.edu	37	X	129299534	129299534	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:129299534G>A	ENST00000287295.3	-	1	327	c.97C>T	c.(97-99)Cgg>Tgg	p.R33W	AIFM1_ENST00000346424.2_Missense_Mutation_p.R33W|AIFM1_ENST00000319908.3_Missense_Mutation_p.R33W|AIFM1_ENST00000535724.1_5'UTR	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	33					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|cell redox homeostasis (GO:0045454)|chromosome condensation (GO:0030261)|DNA catabolic process (GO:0006308)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mitochondrial respiratory chain complex I assembly (GO:0032981)|neuron apoptotic process (GO:0051402)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|regulation of apoptotic DNA fragmentation (GO:1902510)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|FAD binding (GO:0071949)|NAD(P)H oxidase activity (GO:0016174)|oxidoreductase activity, acting on NAD(P)H (GO:0016651)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30					Flavin adenine dinucleotide(DB03147)	CCTGGGAGCCGGTTCCTCTGC	0.672																																																	0													48.0	32.0	37.0					X																	129299534		2199	4291	6490	SO:0001583	missense	9131			AF100928	CCDS14618.1, CCDS14619.1, CCDS48167.1	Xq26.1	2014-01-30	2006-11-16	2006-11-16	ENSG00000156709	ENSG00000156709			8768	protein-coding gene	gene with protein product		300169	"""programmed cell death 8 (apoptosis-inducing factor)"", ""neuropathy, axonal, motor-sensory with deafness and mental retardation (Cowchock syndrome)"""	PDCD8, NAMSD		9989411, 23217327	Standard	NM_004208		Approved	AIF, CMTX4	uc004evg.3	O95831	OTTHUMG00000022392	ENST00000287295.3:c.97C>T	X.37:g.129299534G>A	ENSP00000287295:p.Arg33Trp		A4QPB4|B1ALN1|B2RB08|D3DTE9|Q1L6K4|Q1L6K6|Q2QKE4|Q5JUZ7|Q6I9X6|Q9Y3I3|Q9Y3I4	Missense_Mutation	SNP	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_OxRdtase_NAD-bd_dom,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase	p.R33W	ENST00000287295.3	37	c.97	CCDS14618.1	X	.	.	.	.	.	.	.	.	.	.	G	23.5	4.421499	0.83559	.	.	ENSG00000156709	ENST00000346424;ENST00000319908;ENST00000287295	T;T;T	0.52057	0.68;0.98;0.98	4.67	4.67	0.58626	.	0.163432	0.53938	D	0.000048	T	0.57681	0.2070	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.76494	0.999;0.991;0.999;0.998	P;B;P;P	0.59221	0.818;0.272;0.854;0.784	T	0.61461	-0.7058	10	0.87932	D	0	-3.9738	11.8814	0.52578	0.0:0.0:1.0:0.0	.	33;33;33;33	Q1L6K6;O95831-2;O95831-3;O95831	.;.;.;AIFM1_HUMAN	W	33	ENSP00000316320:R33W;ENSP00000315122:R33W;ENSP00000287295:R33W	ENSP00000287295:R33W	R	-	1	2	AIFM1	129127215	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.010000	0.49559	2.289000	0.77006	0.600000	0.82982	CGG	AIFM1	-	NULL		0.672	AIFM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AIFM1	HGNC	protein_coding	OTTHUMT00000058247.2	G			129299534	-1	no_errors	ENST00000287295	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKFY1	51479	genome.wustl.edu	37	17	4077219	4077219	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:4077219C>T	ENST00000341657.4	-	20	2943	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	ANKFY1_ENST00000574367.1_Missense_Mutation_p.E971K|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.E1012K	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	970					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTTCCATTCTCATCCACGGCA	0.567																																																	0													133.0	139.0	137.0					17																	4077219		2109	4227	6336	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2908G>A	17.37:g.4077219C>T	ENSP00000343362:p.Glu970Lys		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.E1012K	ENST00000341657.4	37	c.3034		17	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407858	0.62399	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.13235	0.315	0.80722	D	1	D;D;P;P	0.55605	0.972;0.961;0.952;0.952	P;P;P;P	0.53224	0.616;0.721;0.6;0.6	T	0.31166	-0.9953	9	0.02654	T	1	-24.8722	18.486	0.90830	0.0:1.0:0.0:0.0	.	912;970;971;1012	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	K	971;912	.	ENSP00000343362:E971K	E	-	1	0	ANKFY1	4023968	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.786000	0.85741	2.608000	0.88229	0.462000	0.41574	GAG	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4077219	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKFY1	51479	genome.wustl.edu	37	17	4077219	4077219	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:4077219C>T	ENST00000341657.4	-	20	2943	c.2908G>A	c.(2908-2910)Gag>Aag	p.E970K	ANKFY1_ENST00000574367.1_Missense_Mutation_p.E971K|CYB5D2_ENST00000573984.1_Intron|ANKFY1_ENST00000570535.1_Missense_Mutation_p.E1012K	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	970					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						TTTCCATTCTCATCCACGGCA	0.567																																																	0													133.0	139.0	137.0					17																	4077219		2109	4227	6336	SO:0001583	missense	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.2908G>A	17.37:g.4077219C>T	ENSP00000343362:p.Glu970Lys		A8KA65|Q5RKV4|Q9ULG5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.E1012K	ENST00000341657.4	37	c.3034		17	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407858	0.62399	.	.	ENSG00000185722	ENST00000341657;ENST00000535427	.	.	.	5.55	5.55	0.83447	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	T	0.45337	0.1337	N	0.13235	0.315	0.80722	D	1	D;D;P;P	0.55605	0.972;0.961;0.952;0.952	P;P;P;P	0.53224	0.616;0.721;0.6;0.6	T	0.31166	-0.9953	9	0.02654	T	1	-24.8722	18.486	0.90830	0.0:1.0:0.0:0.0	.	912;970;971;1012	F5H754;Q9P2R3;Q9P2R3-2;Q9P2R3-4	.;ANFY1_HUMAN;.;.	K	971;912	.	ENSP00000343362:E971K	E	-	1	0	ANKFY1	4023968	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.786000	0.85741	2.608000	0.88229	0.462000	0.41574	GAG	ANKFY1	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.567	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	C	NM_016376		4077219	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKRD53	79998	genome.wustl.edu	37	2	71209788	71209788	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:71209788G>A	ENST00000360589.3	+	5	898	c.864G>A	c.(862-864)caG>caA	p.Q288Q	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Silent_p.Q254Q|ANKRD53_ENST00000441349.1_Silent_p.Q199Q|ANKRD53_ENST00000272421.6_Silent_p.Q288Q	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	288										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TCAAGAGCCAGCTGACCCTCA	0.542																																																	0													107.0	96.0	100.0					2																	71209788		2203	4300	6503	SO:0001819	synonymous_variant	79998			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.864G>A	2.37:g.71209788G>A			Q8IYP8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q288	ENST00000360589.3	37	c.864	CCDS46321.1	2																																																																																			ANKRD53	-	superfamily_Ankyrin_rpt-contain_dom		0.542	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	G	NM_024933		71209788	+1	no_errors	ENST00000272421	ensembl	human	known	70_37	silent	SNP	0.602	A
ANKRD53	79998	genome.wustl.edu	37	2	71209788	71209788	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:71209788G>A	ENST00000360589.3	+	5	898	c.864G>A	c.(862-864)caG>caA	p.Q288Q	AC007040.11_ENST00000606025.1_Intron|ANKRD53_ENST00000457410.1_Silent_p.Q254Q|ANKRD53_ENST00000441349.1_Silent_p.Q199Q|ANKRD53_ENST00000272421.6_Silent_p.Q288Q	NM_001115116.1	NP_001108588.1	Q8N9V6	ANR53_HUMAN	ankyrin repeat domain 53	288										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						TCAAGAGCCAGCTGACCCTCA	0.542																																																	0													107.0	96.0	100.0					2																	71209788		2203	4300	6503	SO:0001819	synonymous_variant	79998			BC035234	CCDS1913.1, CCDS46321.1	2p13.3	2013-01-10			ENSG00000144031	ENSG00000144031		"""Ankyrin repeat domain containing"""	25691	protein-coding gene	gene with protein product							Standard	NM_024933		Approved	FLJ12056, FLJ36160	uc002shl.4	Q8N9V6	OTTHUMG00000129712	ENST00000360589.3:c.864G>A	2.37:g.71209788G>A			Q8IYP8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q288	ENST00000360589.3	37	c.864	CCDS46321.1	2																																																																																			ANKRD53	-	superfamily_Ankyrin_rpt-contain_dom		0.542	ANKRD53-004	PUTATIVE	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD53	HGNC	protein_coding	OTTHUMT00000330275.2	G	NM_024933		71209788	+1	no_errors	ENST00000272421	ensembl	human	known	70_37	silent	SNP	0.602	A
ANKRD6	22881	genome.wustl.edu	37	6	90312810	90312810	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:90312810C>T	ENST00000522441.1	+	4	923	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ANKRD6_ENST00000447838.2_Silent_p.L94L|ANKRD6_ENST00000339746.4_Silent_p.L94L|ANKRD6_ENST00000520793.1_Silent_p.L94L|ANKRD6_ENST00000369408.5_Silent_p.L94L|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000485637.1_Silent_p.L94L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	94					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCGCGGCGCTCATCCACGAAG	0.612																																																	0													41.0	48.0	46.0					6																	90312810		2097	4206	6303	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.282C>T	6.37:g.90312810C>T			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L94	ENST00000522441.1	37	c.282	CCDS56441.1	6																																																																																			ANKRD6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.612	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	C			90312810	+1	no_errors	ENST00000339746	ensembl	human	known	70_37	silent	SNP	0.988	T
ANKRD6	22881	genome.wustl.edu	37	6	90312810	90312810	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:90312810C>T	ENST00000522441.1	+	4	923	c.282C>T	c.(280-282)ctC>ctT	p.L94L	ANKRD6_ENST00000447838.2_Silent_p.L94L|ANKRD6_ENST00000339746.4_Silent_p.L94L|ANKRD6_ENST00000520793.1_Silent_p.L94L|ANKRD6_ENST00000369408.5_Silent_p.L94L|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000485637.1_Silent_p.L94L	NM_001242811.1	NP_001229740.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	94					negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of JNK cascade (GO:0046330)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		TCGCGGCGCTCATCCACGAAG	0.612																																																	0													41.0	48.0	46.0					6																	90312810		2097	4206	6303	SO:0001819	synonymous_variant	22881			AB023174	CCDS47460.1, CCDS56441.1, CCDS56442.1, CCDS56443.1	6q14.2-q16.1	2013-03-20			ENSG00000135299	ENSG00000135299		"""Ankyrin repeat domain containing"""	17280	protein-coding gene	gene with protein product		610583					Standard	NM_001242809		Approved	KIAA0957	uc003pni.4	Q9Y2G4	OTTHUMG00000015202	ENST00000522441.1:c.282C>T	6.37:g.90312810C>T			B3KUC3|Q5JUJ4|Q5JUJ5|Q8IUQ8|Q9NU24|Q9UFQ9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.L94	ENST00000522441.1	37	c.282	CCDS56441.1	6																																																																																			ANKRD6	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.612	ANKRD6-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	ANKRD6	HGNC	protein_coding	OTTHUMT00000376594.1	C			90312810	+1	no_errors	ENST00000339746	ensembl	human	known	70_37	silent	SNP	0.988	T
APBA3	9546	genome.wustl.edu	37	19	3760026	3760026	+	Silent	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:3760026G>T	ENST00000316757.3	-	2	437	c.237C>A	c.(235-237)gcC>gcA	p.A79A	MRPL54_ENST00000330133.4_5'Flank	NM_004886.3	NP_004877.1	O96018	APBA3_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 3	79					in utero embryonic development (GO:0001701)|negative regulation of catalytic activity (GO:0043086)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	perinuclear region of cytoplasm (GO:0048471)	beta-amyloid binding (GO:0001540)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGGACAGGGGGCTCCACCTG	0.632																																																	0													39.0	42.0	41.0					19																	3760026		2203	4300	6503	SO:0001819	synonymous_variant	9546			AB021638	CCDS12110.1	19p13.3	2008-07-18	2008-07-18			ENSG00000011132			580	protein-coding gene	gene with protein product	"""X11-like 2"""	604262				10049767	Standard	NM_004886		Approved	X11L2, mint3	uc002lyp.1	O96018		ENST00000316757.3:c.237C>A	19.37:g.3760026G>T			O60483|Q9UPZ2	Silent	SNP	pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom	p.A79	ENST00000316757.3	37	c.237	CCDS12110.1	19																																																																																			APBA3	-	NULL		0.632	APBA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APBA3	HGNC	protein_coding	OTTHUMT00000453634.2	G			3760026	-1	no_errors	ENST00000316757	ensembl	human	known	70_37	silent	SNP	0.355	T
APIP	51074	genome.wustl.edu	37	11	34877323	34877323	+	IGR	SNP	C	C	G	rs138768880	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:34877323C>G								EHF (194719 upstream) : APIP (19412 downstream)																							TGGTAGGTTACGTGTGACTTG	0.433																																																	0																																										SO:0001628	intergenic_variant	51074																															11.37:g.34877323C>G				RNA	SNP	-	NULL		37	NULL		11																																																																																			APIP	-	-	0	0.433					APIP	HGNC			C			34877323	-1	no_errors	ENST00000532428	ensembl	human	known	70_37	rna	SNP	0.000	G
ARID1A	8289	genome.wustl.edu	37	1	27100375	27100375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:27100375C>T	ENST00000324856.7	+	17	4458	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q980*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1363*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1363	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAATGTATCAACAGCAACA	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													130.0	135.0	134.0					1																	27100375		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4087C>T	1.37:g.27100375C>T	ENSP00000320485:p.Gln1363*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1363*	ENST00000324856.7	37	c.4087	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.611532|9.611532	0.99219|0.99219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76550	.|0.4003	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74512	.|-0.3641	.|4	0.32370|.	T|.	0.25|.	.|.	19.7727|19.7727	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1363;1363;980|259	.|.	ENSP00000320485:Q1363X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26972962|26972962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	4.561000|4.561000	0.60809|0.60809	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	CAA|TCA	ARID1A	-	NULL		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27100375	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARID1A	8289	genome.wustl.edu	37	1	27100375	27100375	+	Nonsense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:27100375C>T	ENST00000324856.7	+	17	4458	c.4087C>T	c.(4087-4089)Caa>Taa	p.Q1363*	ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q980*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1363*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1363	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TACAATGTATCAACAGCAACA	0.488			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																			Rec	yes		1	1p35.3	8289	AT rich interactive domain 1A (SWI-like)		E	0													130.0	135.0	134.0					1																	27100375		2203	4300	6503	SO:0001587	stop_gained	8289			AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.4087C>T	1.37:g.27100375C>T	ENSP00000320485:p.Gln1363*		D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Nonsense_Mutation	SNP	pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.Q1363*	ENST00000324856.7	37	c.4087	CCDS285.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	42|42	9.611532|9.611532	0.99219|0.99219	.|.	.|.	ENSG00000117713|ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152|ENST00000430799	.|.	.|.	.|.	5.67|5.67	5.67|5.67	0.87782|0.87782	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.76550	.|0.4003	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74512	.|-0.3641	.|4	0.32370|.	T|.	0.25|.	.|.	19.7727|19.7727	0.96373|0.96373	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	1363;1363;980|259	.|.	ENSP00000320485:Q1363X|.	Q|S	+|+	1|2	0|0	ARID1A|ARID1A	26972962|26972962	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.933000|0.933000	0.57130|0.57130	4.561000|4.561000	0.60809|0.60809	2.688000|2.688000	0.91661|0.91661	0.655000|0.655000	0.94253|0.94253	CAA|TCA	ARID1A	-	NULL		0.488	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARID1A	HGNC	protein_coding	OTTHUMT00000011437.2	C	NM_139135		27100375	+1	no_errors	ENST00000324856	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARID3A	1820	genome.wustl.edu	37	19	964968	964968	+	Silent	SNP	G	G	A	rs374271087		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:964968G>A	ENST00000263620.3	+	6	1413	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	362						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCTACTCGCCAGGCGGGG	0.667																																					Pancreas(29;54 1022 32760 50921)												0								G		0,4406		0,0,2203	66.0	63.0	64.0		1086	-8.9	0.1	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARID3A	NM_005224.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		362/594	964968	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1086G>A	19.37:g.964968G>A			Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S362	ENST00000263620.3	37	c.1086	CCDS12050.1	19																																																																																			ARID3A	-	NULL		0.667	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	G	NM_005224		964968	+1	no_errors	ENST00000263620	ensembl	human	known	70_37	silent	SNP	0.114	A
ARID3A	1820	genome.wustl.edu	37	19	964968	964968	+	Silent	SNP	G	G	A	rs374271087		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:964968G>A	ENST00000263620.3	+	6	1413	c.1086G>A	c.(1084-1086)tcG>tcA	p.S362S		NM_005224.2	NP_005215.1	Q99856	ARI3A_HUMAN	AT rich interactive domain 3A (BRIGHT-like)	362						cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGCCTACTCGCCAGGCGGGG	0.667																																					Pancreas(29;54 1022 32760 50921)												0								G		0,4406		0,0,2203	66.0	63.0	64.0		1086	-8.9	0.1	19		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ARID3A	NM_005224.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		362/594	964968	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	1820			U88047	CCDS12050.1	19p13.3	2013-02-07	2006-11-08	2004-01-30		ENSG00000116017		"""-"""	3031	protein-coding gene	gene with protein product		603265	"""dead ringer-like 1 (Drosophila)"", ""AT rich interactive domain 3A (BRIGHT- like)"""	DRIL1		9722953	Standard	NM_005224		Approved	BRIGHT	uc002lql.3	Q99856		ENST00000263620.3:c.1086G>A	19.37:g.964968G>A			Q5I858|Q6P9C6|Q8IZA7|Q8N4Z3	Silent	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.S362	ENST00000263620.3	37	c.1086	CCDS12050.1	19																																																																																			ARID3A	-	NULL		0.667	ARID3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3A	HGNC	protein_coding	OTTHUMT00000458219.1	G	NM_005224		964968	+1	no_errors	ENST00000263620	ensembl	human	known	70_37	silent	SNP	0.114	A
ARMCX3	51566	genome.wustl.edu	37	X	100878294	100878294	+	Intron	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:100878294C>T	ENST00000341189.4	+	1	480				ARMCX3_ENST00000537169.1_5'Flank|ARMCX3_ENST00000477980.2_3'UTR|ARMCX3_ENST00000471229.2_Intron|ARMCX3-AS1_ENST00000454228.1_RNA	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3						cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						TCCATAAAGTCGGGGTGCTTG	0.627																																																	0																																										SO:0001627	intron_variant	100128574			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.-387+28C>T	X.37:g.100878294C>T			Q53HC6|Q7LCF5|Q9NPE4	RNA	SNP	-	NULL	ENST00000341189.4	37	NULL	CCDS14489.1	X																																																																																			ARMCX3-AS1	-	-		0.627	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3-AS1	HGNC	protein_coding	OTTHUMT00000057568.2	C	NM_016607		100878294	-1	no_errors	ENST00000454228	ensembl	human	known	70_37	rna	SNP	0.071	T
ATP2C2	9914	genome.wustl.edu	37	16	84497327	84497327	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:84497327G>A	ENST00000262429.4	+	27	2919	c.2830G>A	c.(2830-2832)Gaa>Aaa	p.E944K	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000416219.2_Missense_Mutation_p.E973K	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	944					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GATGCACCCTGAAGATGTGTA	0.512																																																	0													115.0	123.0	120.0					16																	84497327		1981	4151	6132	SO:0001583	missense	9914			AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.2830G>A	16.37:g.84497327G>A	ENSP00000262429:p.Glu944Lys		B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_ATPase_P-typ_ion-transptr	p.E944K	ENST00000262429.4	37	c.2830	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301706	0.40694	.	.	ENSG00000064270	ENST00000416219;ENST00000262429;ENST00000420010	D;D	0.92858	-3.12;-3.11	4.81	3.85	0.44370	.	.	.	.	.	D	0.83649	0.5300	N	0.22421	0.69	0.09310	N	1	P;B;B;P;B	0.37330	0.546;0.18;0.058;0.59;0.155	B;B;B;B;B	0.33690	0.115;0.025;0.037;0.168;0.051	T	0.74312	-0.3706	9	0.41790	T	0.15	.	6.5599	0.22481	0.0991:0.1837:0.7172:0.0	.	973;793;793;961;944	E7ES94;B3KR57;F8WAA5;O75185-2;O75185	.;.;.;.;AT2C2_HUMAN	K	973;944;793	ENSP00000397925:E973K;ENSP00000262429:E944K	ENSP00000262429:E944K	E	+	1	0	ATP2C2	83054828	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.104000	0.15313	1.016000	0.39470	0.650000	0.86243	GAA	ATP2C2	-	NULL		0.512	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	HGNC	protein_coding	OTTHUMT00000433404.1	G	NM_014861		84497327	+1	no_errors	ENST00000262429	ensembl	human	known	70_37	missense	SNP	0.001	A
BAHCC1	57597	genome.wustl.edu	37	17	79411745	79411745	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:79411745C>A	ENST00000307745.7	+	12	2564	c.2564C>A	c.(2563-2565)tCc>tAc	p.S855Y																								TTCCCCGCCTCCGTGGCTGGC	0.721																																																	0													28.0	37.0	34.0					17																	79411745		2007	4146	6153	SO:0001583	missense	57597																														ENST00000307745.7:c.2564C>A	17.37:g.79411745C>A	ENSP00000303486:p.Ser855Tyr			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S855Y	ENST00000307745.7	37	c.2564		17	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079644	0.55753	.	.	ENSG00000171282	ENST00000307745	T	0.55234	0.53	4.63	4.63	0.57726	.	0.154279	0.30850	N	0.008752	T	0.67325	0.2881	L	0.57536	1.79	0.44871	D	0.997888	D;D	0.71674	0.989;0.998	P;D	0.63381	0.726;0.914	T	0.70784	-0.4778	10	0.62326	D	0.03	.	17.2677	0.87092	0.0:1.0:0.0:0.0	.	855;855	Q9P281;F8WBW8	BAHC1_HUMAN;.	Y	855	ENSP00000303486:S855Y	ENSP00000303486:S855Y	S	+	2	0	AC110285.1	77026340	0.543000	0.26434	0.065000	0.19835	0.073000	0.16967	5.314000	0.65804	2.381000	0.81170	0.491000	0.48974	TCC	BAHCC1	-	NULL		0.721	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		C			79411745	+1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.981	A
BAHCC1	57597	genome.wustl.edu	37	17	79411745	79411745	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:79411745C>A	ENST00000307745.7	+	12	2564	c.2564C>A	c.(2563-2565)tCc>tAc	p.S855Y																								TTCCCCGCCTCCGTGGCTGGC	0.721																																																	0													28.0	37.0	34.0					17																	79411745		2007	4146	6153	SO:0001583	missense	57597																														ENST00000307745.7:c.2564C>A	17.37:g.79411745C>A	ENSP00000303486:p.Ser855Tyr			Missense_Mutation	SNP	pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom	p.S855Y	ENST00000307745.7	37	c.2564		17	.	.	.	.	.	.	.	.	.	.	C	16.28	3.079644	0.55753	.	.	ENSG00000171282	ENST00000307745	T	0.55234	0.53	4.63	4.63	0.57726	.	0.154279	0.30850	N	0.008752	T	0.67325	0.2881	L	0.57536	1.79	0.44871	D	0.997888	D;D	0.71674	0.989;0.998	P;D	0.63381	0.726;0.914	T	0.70784	-0.4778	10	0.62326	D	0.03	.	17.2677	0.87092	0.0:1.0:0.0:0.0	.	855;855	Q9P281;F8WBW8	BAHC1_HUMAN;.	Y	855	ENSP00000303486:S855Y	ENSP00000303486:S855Y	S	+	2	0	AC110285.1	77026340	0.543000	0.26434	0.065000	0.19835	0.073000	0.16967	5.314000	0.65804	2.381000	0.81170	0.491000	0.48974	TCC	BAHCC1	-	NULL		0.721	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	BAHCC1	HGNC	protein_coding		C			79411745	+1	no_errors	ENST00000307745	ensembl	human	known	70_37	missense	SNP	0.981	A
BCLAF1	9774	genome.wustl.edu	37	6	136599911	136599911	+	Silent	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:136599911A>G	ENST00000531224.1	-	4	360	c.108T>C	c.(106-108)tcT>tcC	p.S36S	BCLAF1_ENST00000530767.1_Silent_p.S36S|BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000527759.1_Intron|BCLAF1_ENST00000527536.1_Silent_p.S36S|BCLAF1_ENST00000392348.2_Intron	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	36					apoptotic process (GO:0006915)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA-templated transcription, initiation (GO:2000144)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of response to DNA damage stimulus (GO:2001022)|regulation of DNA-templated transcription in response to stress (GO:0043620)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACGAGACCTAGAACTAAAAA	0.318																																					Colon(142;1534 1789 5427 7063 28491)												0													24.0	25.0	25.0					6																	136599911		2202	4292	6494	SO:0001819	synonymous_variant	9774			AF249273	CCDS5177.1, CCDS47485.1, CCDS47486.1, CCDS75525.1	6q22-q23	2007-03-02			ENSG00000029363	ENSG00000029363			16863	protein-coding gene	gene with protein product		612588				8724849, 10330179	Standard	NM_001077440		Approved	KIAA0164, BTF	uc003qgx.1	Q9NYF8	OTTHUMG00000033323	ENST00000531224.1:c.108T>C	6.37:g.136599911A>G			A2RU75|B7ZM58|E1P586|Q14673|Q86WU6|Q86WY0	Silent	SNP	NULL	p.S36	ENST00000531224.1	37	c.108	CCDS5177.1	6																																																																																			BCLAF1	-	NULL		0.318	BCLAF1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCLAF1	HGNC	protein_coding	OTTHUMT00000042375.2	A	NM_014739		136599911	-1	no_errors	ENST00000531224	ensembl	human	known	70_37	silent	SNP	1.000	G
BDNF-AS	497258	genome.wustl.edu	37	11	27561609	27561609	+	RNA	SNP	T	T	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:27561609T>G	ENST00000499008.3	+	0	90				BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000501176.2_RNA|BDNF-AS_ENST00000499568.2_RNA|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000530686.1_RNA|BDNF-AS_ENST00000532965.1_RNA	NR_002832.2				BDNF antisense RNA																		atgtgtttgcttccccttgtg	0.433																																																	0																																												497258			AY054391		11p14.1	2014-01-23	2012-08-15	2012-05-03	ENSG00000245573	ENSG00000245573		"""Long non-coding RNAs"""	20608	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 49"", ""BDNF antisense RNA 1 (non-protein coding)"""	611468	"""BDNF opposite strand (non-protein coding)"", ""BDNF antisense RNA (non-protein coding)"""	BDNFOS		15666411, 22446693	Standard	NR_002832		Approved	BT2A, BT2B, BT2C, BT2D, NCRNA00049, BDNF-AS1	uc001mrm.3				11.37:g.27561609T>G				RNA	SNP	-	NULL	ENST00000499008.3	37	NULL		11																																																																																			BDNF-AS	-	-		0.433	BDNF-AS-002	KNOWN	basic	antisense	BDNF-AS	HGNC	antisense	OTTHUMT00000388068.1	T	NR_002832		27561609	+1	no_errors	ENST00000499008	ensembl	human	known	70_37	rna	SNP	0.012	G
BGN	633	genome.wustl.edu	37	X	152771463	152771463	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:152771463G>A	ENST00000331595.4	+	4	680	c.494G>A	c.(493-495)cGc>cAc	p.R165H	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	165					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAGCTCCGCATCCACGAC	0.607																																																	0													59.0	51.0	54.0					X																	152771463		2203	4300	6503	SO:0001583	missense	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.494G>A	X.37:g.152771463G>A	ENSP00000327336:p.Arg165His		D3DWU3|P13247	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R165H	ENST00000331595.4	37	c.494	CCDS14721.1	X	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909018	0.92107	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;T;T	0.61158	0.41;0.13;0.41	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74836	-0.3529	10	0.87932	D	0	-26.7828	15.9023	0.79387	0.0:0.0:1.0:0.0	.	165	P21810	PGS1_HUMAN	H	165;182;104;104	ENSP00000327336:R165H;ENSP00000402525:R182H;ENSP00000359223:R104H	ENSP00000327336:R165H	R	+	2	0	BGN	152424657	1.000000	0.71417	0.984000	0.44739	0.929000	0.56500	9.461000	0.97646	2.088000	0.63022	0.523000	0.50628	CGC	BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan		0.607	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	G	NM_001711		152771463	+1	no_errors	ENST00000331595	ensembl	human	known	70_37	missense	SNP	1.000	A
BGN	633	genome.wustl.edu	37	X	152771463	152771463	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:152771463G>A	ENST00000331595.4	+	4	680	c.494G>A	c.(493-495)cGc>cAc	p.R165H	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	165					blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGAGCTCCGCATCCACGAC	0.607																																																	0													59.0	51.0	54.0					X																	152771463		2203	4300	6503	SO:0001583	missense	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.494G>A	X.37:g.152771463G>A	ENSP00000327336:p.Arg165His		D3DWU3|P13247	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan	p.R165H	ENST00000331595.4	37	c.494	CCDS14721.1	X	.	.	.	.	.	.	.	.	.	.	G	28.3	4.909018	0.92107	.	.	ENSG00000182492	ENST00000331595;ENST00000431891;ENST00000370204;ENST00000430380	T;T;T	0.61158	0.41;0.13;0.41	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.71143	0.3305	L	0.50333	1.59	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74836	-0.3529	10	0.87932	D	0	-26.7828	15.9023	0.79387	0.0:0.0:1.0:0.0	.	165	P21810	PGS1_HUMAN	H	165;182;104;104	ENSP00000327336:R165H;ENSP00000402525:R182H;ENSP00000359223:R104H	ENSP00000327336:R165H	R	+	2	0	BGN	152424657	1.000000	0.71417	0.984000	0.44739	0.929000	0.56500	9.461000	0.97646	2.088000	0.63022	0.523000	0.50628	CGC	BGN	-	smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan		0.607	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	G	NM_001711		152771463	+1	no_errors	ENST00000331595	ensembl	human	known	70_37	missense	SNP	1.000	A
BGN	633	genome.wustl.edu	37	X	152774523	152774523	+	3'UTR	SNP	G	G	C	rs60374028		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:152774523G>C	ENST00000331595.4	+	0	1913				BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan						blood vessel remodeling (GO:0001974)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|transport vesicle (GO:0030133)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|glycosaminoglycan binding (GO:0005539)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ctctttctgtgtgtgtgtgtg	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	633			AK092954	CCDS14721.1	Xq28	2008-02-05			ENSG00000182492	ENSG00000182492		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	1044	protein-coding gene	gene with protein product	"""biglycan proteoglycan"""	301870				1612609	Standard	NM_001711		Approved	DSPG1, SLRR1A	uc004fhr.2	P21810	OTTHUMG00000024205	ENST00000331595.4:c.*620G>C	X.37:g.152774523G>C			D3DWU3|P13247	RNA	SNP	-	NULL	ENST00000331595.4	37	NULL	CCDS14721.1	X																																																																																			BGN	-	-		0.542	BGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BGN	HGNC	protein_coding	OTTHUMT00000060981.1	G	NM_001711		152774523	+1	no_errors	ENST00000472615	ensembl	human	known	70_37	rna	SNP	0.001	C
BRD1	23774	genome.wustl.edu	37	22	50191531	50191531	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr22:50191531C>T	ENST00000216267.8	-	5	2506	c.2020G>A	c.(2020-2022)Ggc>Agc	p.G674S	BRD1_ENST00000542442.1_Missense_Mutation_p.G362S|BRD1_ENST00000457780.2_Missense_Mutation_p.G674S|BRD1_ENST00000404034.1_Missense_Mutation_p.G674S|BRD1_ENST00000404760.1_Missense_Mutation_p.G674S|BRD1_ENST00000342989.5_Missense_Mutation_p.G269S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	674					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTTCCAAGCCGATGCTGTCC	0.662																																																	0													40.0	39.0	39.0					22																	50191531		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2020G>A	22.37:g.50191531C>T	ENSP00000216267:p.Gly674Ser		A6ZJA4	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_Bromodomain,prints_Bromodomain	p.G674S	ENST00000216267.8	37	c.2020	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941032	0.92526	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.29655	2.49;2.49;2.38;2.21;1.56;1.75	5.44	5.44	0.79542	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.65253	-0.6213	10	0.41790	T	0.15	.	19.2518	0.93926	0.0:1.0:0.0:0.0	.	674;269;674;674	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	674;674;674;674;362;269;134	ENSP00000216267:G674S;ENSP00000384076:G674S;ENSP00000385858:G674S;ENSP00000410042:G674S;ENSP00000437514:G362S;ENSP00000345886:G269S	ENSP00000216267:G674S	G	-	1	0	BRD1	48577535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.549000	0.82163	2.546000	0.85860	0.655000	0.94253	GGC	BRD1	-	superfamily_Bromodomain		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	C	NM_014577		50191531	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	T
BRD1	23774	genome.wustl.edu	37	22	50191531	50191531	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr22:50191531C>T	ENST00000216267.8	-	5	2506	c.2020G>A	c.(2020-2022)Ggc>Agc	p.G674S	BRD1_ENST00000542442.1_Missense_Mutation_p.G362S|BRD1_ENST00000457780.2_Missense_Mutation_p.G674S|BRD1_ENST00000404034.1_Missense_Mutation_p.G674S|BRD1_ENST00000404760.1_Missense_Mutation_p.G674S|BRD1_ENST00000342989.5_Missense_Mutation_p.G269S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	674					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TCTTCCAAGCCGATGCTGTCC	0.662																																																	0													40.0	39.0	39.0					22																	50191531		2203	4300	6503	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2020G>A	22.37:g.50191531C>T	ENSP00000216267:p.Gly674Ser		A6ZJA4	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_Bromodomain,prints_Bromodomain	p.G674S	ENST00000216267.8	37	c.2020	CCDS14080.1	22	.	.	.	.	.	.	.	.	.	.	C	28.7	4.941032	0.92526	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000457780;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T;T	0.29655	2.49;2.49;2.38;2.21;1.56;1.75	5.44	5.44	0.79542	Bromodomain (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.86953	2.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.999;0.999;1.0	T	0.65253	-0.6213	10	0.41790	T	0.15	.	19.2518	0.93926	0.0:1.0:0.0:0.0	.	674;269;674;674	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	674;674;674;674;362;269;134	ENSP00000216267:G674S;ENSP00000384076:G674S;ENSP00000385858:G674S;ENSP00000410042:G674S;ENSP00000437514:G362S;ENSP00000345886:G269S	ENSP00000216267:G674S	G	-	1	0	BRD1	48577535	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.549000	0.82163	2.546000	0.85860	0.655000	0.94253	GGC	BRD1	-	superfamily_Bromodomain		0.662	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BRD1	HGNC	protein_coding	OTTHUMT00000317402.1	C	NM_014577		50191531	-1	no_errors	ENST00000216267	ensembl	human	known	70_37	missense	SNP	1.000	T
CFAP74	85452	genome.wustl.edu	37	1	1896464	1896464	+	IGR	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:1896464C>A								TMEM52 (45752 upstream) : C1orf222 (23098 downstream)														p.G480R(1)									ATCTTTGTCCCGCCCACGGGC	0.677																																																	1	Substitution - Missense(1)	pancreas(1)											41.0	43.0	42.0					1																	1896464		2022	4183	6205	SO:0001628	intergenic_variant	85452																															1.37:g.1896464C>A				Missense_Mutation	SNP	NULL	p.G480W		37	c.1438		1	.	.	.	.	.	.	.	.	.	.	c	15.49	2.849069	0.51270	.	.	ENSG00000142609	ENST00000270720	.	.	.	4.48	4.48	0.54585	.	0.335703	0.28176	N	0.016309	T	0.77471	0.4135	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.993	T	0.79669	-0.1707	9	0.56958	D	0.05	-43.4162	15.0164	0.71588	0.0:1.0:0.0:0.0	.	480;480	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	W	480	.	ENSP00000270720:G480W	G	-	1	0	C1orf222	1886324	0.003000	0.15002	0.731000	0.30826	0.299000	0.27559	1.059000	0.30517	2.203000	0.70933	0.556000	0.70494	GGG	C1orf222	-	NULL	0	0.677					C1orf222	HGNC			C			1896464	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	missense	SNP	0.949	A
C1orf35	79169	genome.wustl.edu	37	1	228289823	228289823	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:228289823G>T	ENST00000272139.4	-	6	725	c.491C>A	c.(490-492)tCg>tAg	p.S164*	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	164							poly(A) RNA binding (GO:0044822)			large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				CCTCCTGGCCGAGGCTGCCGA	0.736																																																	0													6.0	10.0	9.0					1																	228289823		2038	4135	6173	SO:0001587	stop_gained	79169			AY137773	CCDS1566.1	1q42.13	2012-06-25			ENSG00000143793	ENSG00000143793			19032	protein-coding gene	gene with protein product	"""multiple myeloma tumor-associated protein 2"""					12545221	Standard	NM_024319		Approved	MGC4174, MMTAG2	uc001hrx.3	Q9BU76	OTTHUMG00000037793	ENST00000272139.4:c.491C>A	1.37:g.228289823G>T	ENSP00000272139:p.Ser164*		Q6P5Y0|Q6ZTZ6|Q6ZWA6|Q8IZH3	Nonsense_Mutation	SNP	pfam_Kinase_phosphorylation_domain	p.S164*	ENST00000272139.4	37	c.491	CCDS1566.1	1	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000011	0.74818	.	.	ENSG00000143793	ENST00000272139	.	.	.	3.84	2.92	0.33932	.	0.900203	0.09532	N	0.789437	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-0.8526	7.4799	0.27398	0.1215:0.0:0.8785:0.0	.	.	.	.	X	164	.	ENSP00000272139:S164X	S	-	2	0	C1orf35	226356446	0.016000	0.18221	0.008000	0.14137	0.015000	0.08874	1.614000	0.36911	0.935000	0.37341	0.491000	0.48974	TCG	C1orf35	-	NULL		0.736	C1orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf35	HGNC	protein_coding	OTTHUMT00000092245.1	G	NM_024319		228289823	-1	no_errors	ENST00000272139	ensembl	human	known	70_37	nonsense	SNP	0.027	T
C6orf89	221477	genome.wustl.edu	37	6	36853743	36853743	+	5'UTR	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:36853743C>T	ENST00000480824.2	+	0	114				C6orf89_ENST00000359359.2_Intron|C6orf89_ENST00000373685.1_5'UTR|C6orf89_ENST00000510325.2_Intron|C6orf89_ENST00000355190.3_5'UTR			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89						epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTTGCCCATCCTCCTCGCCCG	0.711											OREG0017392	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													2.0	3.0	3.0					6																	36853743		440	1241	1681	SO:0001623	5_prime_UTR_variant	221477			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.-181C>T	6.37:g.36853743C>T		866	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	RNA	SNP	-	NULL	ENST00000480824.2	37	NULL		6																																																																																			C6orf89	-	-		0.711	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	C6orf89	HGNC	protein_coding	OTTHUMT00000040387.2	C	NM_152734		36853743	+1	no_errors	ENST00000480824	ensembl	human	known	70_37	rna	SNP	0.765	T
CAMLG	819	genome.wustl.edu	37	5	134074479	134074480	+	Missense_Mutation	DNP	GC	GC	TT			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G|C	G|C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:134074479_134074480GC>TT	ENST00000297156.2	+	1	289_290	c.169_170GC>TT	c.(169-171)GCg>TTg	p.A57L	CAMLG_ENST00000514518.1_Missense_Mutation_p.A57L	NM_001745.3	NP_001736.1	P49069	CAMLG_HUMAN	calcium modulating ligand	57					defense response (GO:0006952)|epidermal growth factor receptor signaling pathway (GO:0007173)|receptor recycling (GO:0001881)|signal transduction (GO:0007165)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|cervix(1)|kidney(3)|lung(3)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Cyclosporine(DB00091)	CGGGAGCGGCGCGGGTAAGAGC	0.604																																																	0																																										SO:0001583	missense	819			AF068179.1	CCDS4178.1	5q23	2008-07-18			ENSG00000164615	ENSG00000164615			1471	protein-coding gene	gene with protein product	"""calcium-modulating cyclophilin ligand"", ""calcium-signal modulating cyclophilin ligand"", ""cyclophilin B-binding protein"""	601118				8824814	Standard	NM_001745		Approved	CAML	uc003kzt.3	P49069	OTTHUMG00000129116	Exception_encountered	5.37:g.134074479_134074480delinsTT	ENSP00000297156:p.Ala57Leu		A1L3Y3	Missense_Mutation	SNP	pirsf_Ca_signal-mod_cyclophilin_lig	p.A57S|p.A57V	ENST00000297156.2	37	c.169|c.170	CCDS4178.1	5																																																																																			CAMLG	-	pirsf_Ca_signal-mod_cyclophilin_lig		0.604	CAMLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAMLG	HGNC	protein_coding	OTTHUMT00000251161.1	G|C	NM_001745		134074479|134074480	+1	no_errors	ENST00000297156	ensembl	human	known	70_37	missense	SNP	0.992|0.845	T
CBLN1	869	genome.wustl.edu	37	16	49313390	49313390	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:49313390G>A	ENST00000219197.6	-	3	872	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CBLN1_ENST00000536749.1_Silent_p.L169L	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	169	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GCTCCAGCTTGAGGTATGCTC	0.602																																																	0													107.0	103.0	104.0					16																	49313390		2200	4300	6500	SO:0001819	synonymous_variant	869			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.507C>T	16.37:g.49313390G>A			B2RAN9|P02682|Q52M09	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L169	ENST00000219197.6	37	c.507	CCDS10736.1	16																																																																																			CBLN1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.602	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	G	NM_004352		49313390	-1	no_errors	ENST00000219197	ensembl	human	known	70_37	silent	SNP	1.000	A
CBLN1	869	genome.wustl.edu	37	16	49313390	49313390	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:49313390G>A	ENST00000219197.6	-	3	872	c.507C>T	c.(505-507)ctC>ctT	p.L169L	CBLN1_ENST00000536749.1_Silent_p.L169L	NM_004352.3	NP_004343.1	P23435	CBLN1_HUMAN	cerebellin 1 precursor	169	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.|Necessary for interaction with CBLN3, and homotrimerization. {ECO:0000250}.				cerebellar granule cell differentiation (GO:0021707)|heterophilic cell-cell adhesion (GO:0007157)|nervous system development (GO:0007399)|positive regulation of synapse assembly (GO:0051965)|protein secretion (GO:0009306)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|extracellular region (GO:0005576)|postsynaptic membrane (GO:0045211)				breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(37;0.0766)|all_lung(18;0.24)				GCTCCAGCTTGAGGTATGCTC	0.602																																																	0													107.0	103.0	104.0					16																	49313390		2200	4300	6500	SO:0001819	synonymous_variant	869			M58583	CCDS10736.1	16q12.1	2008-02-05			ENSG00000102924	ENSG00000102924			1543	protein-coding gene	gene with protein product		600432				7877445, 1704129	Standard	NM_004352		Approved		uc002efq.3	P23435	OTTHUMG00000133148	ENST00000219197.6:c.507C>T	16.37:g.49313390G>A			B2RAN9|P02682|Q52M09	Silent	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L169	ENST00000219197.6	37	c.507	CCDS10736.1	16																																																																																			CBLN1	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.602	CBLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN1	HGNC	protein_coding	OTTHUMT00000256845.4	G	NM_004352		49313390	-1	no_errors	ENST00000219197	ensembl	human	known	70_37	silent	SNP	1.000	A
ACKR2	1238	genome.wustl.edu	37	3	42906204	42906204	+	Silent	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:42906204C>A	ENST00000422265.1	+	3	385	c.210C>A	c.(208-210)gtC>gtA	p.V70V	ACKR2_ENST00000442925.1_Silent_p.V70V|KRBOX1_ENST00000426937.1_Intron|RP11-141M3.5_ENST00000471537.1_RNA|ACKR2_ENST00000273145.2_Silent_p.V70V|CYP8B1_ENST00000437102.1_Intron	NM_001296.4	NP_001287.2	O00590	ACKR2_HUMAN	atypical chemokine receptor 2	70					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|multicellular organismal development (GO:0007275)|neutrophil activation (GO:0042119)|receptor-mediated endocytosis (GO:0006898)	actin filament (GO:0005884)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|C-X-C chemokine receptor activity (GO:0016494)|chemokine receptor activity (GO:0004950)|scavenger receptor activity (GO:0005044)										TTCTCATGGTCTTGCTCCGTT	0.532																																																	0													193.0	160.0	171.0					3																	42906204		2203	4300	6503	SO:0001819	synonymous_variant	1238			U94888	CCDS2706.1	3p21.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144648	ENSG00000144648		"""GPCR / Class A : Chemokine receptors : Atypical"""	1565	protein-coding gene	gene with protein product		602648	"""chemokine binding protein 2"""	CMKBR9, CCBP2		9364936, 9405404, 16148	Standard	NM_001296		Approved	CCR10, D6, CCR9	uc003cme.3	O00590	OTTHUMG00000133040	ENST00000422265.1:c.210C>A	3.37:g.42906204C>A			B2R8Y8|O00537|Q53YA1|Q86UN9|Q96A02	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_ATII_rcpt,prints_Chemokine_CXCR4	p.V70	ENST00000422265.1	37	c.210	CCDS2706.1	3																																																																																			CCBP2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.532	ACKR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCBP2	HGNC	protein_coding	OTTHUMT00000256645.2	C	NM_001296		42906204	+1	no_errors	ENST00000273145	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC148	130940	genome.wustl.edu	37	2	159034575	159034575	+	Intron	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:159034575G>A	ENST00000283233.5	-	12	1802				CCDC148-AS1_ENST00000412781.2_RNA|CCDC148_ENST00000409187.1_Intron	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148											endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						tttttcagatgaagaaataaa	0.393																																																	0																																										SO:0001627	intron_variant	554201				CCDS33304.1	2q24.1	2007-12-07			ENSG00000153237	ENSG00000153237			25191	protein-coding gene	gene with protein product							Standard	NM_138803		Approved	MGC125588	uc002tzq.3	Q8NFR7	OTTHUMG00000153973	ENST00000283233.5:c.1488+815C>T	2.37:g.159034575G>A			F5H839|Q3B7I3|Q3B7I4|Q3KR41|Q4ZG12|Q4ZG23|Q53TM6|Q96BN5|Q96LM2	RNA	SNP	-	NULL	ENST00000283233.5	37	NULL	CCDS33304.1	2																																																																																			CCDC148-AS1	-	-		0.393	CCDC148-001	KNOWN	basic|CCDS	protein_coding	CCDC148-AS1	HGNC	protein_coding	OTTHUMT00000333270.1	G	NM_138803		159034575	+1	no_errors	ENST00000412781	ensembl	human	known	70_37	rna	SNP	0.036	A
CD97	976	genome.wustl.edu	37	19	14516688	14516688	+	Silent	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:14516688C>G	ENST00000242786.5	+	14	1838	c.1758C>G	c.(1756-1758)ctC>ctG	p.L586L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L493L|CD97_ENST00000357355.3_Silent_p.L537L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	586					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCTGCACCTCTGCATCTGCC	0.652																																																	0													109.0	80.0	90.0					19																	14516688		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1758C>G	19.37:g.14516688C>G			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	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_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L586	ENST00000242786.5	37	c.1758	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14516688	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.998	G
CD97	976	genome.wustl.edu	37	19	14516688	14516688	+	Silent	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:14516688C>G	ENST00000242786.5	+	14	1838	c.1758C>G	c.(1756-1758)ctC>ctG	p.L586L	CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000358600.3_Silent_p.L493L|CD97_ENST00000357355.3_Silent_p.L537L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	586					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCTGCACCTCTGCATCTGCC	0.652																																																	0													109.0	80.0	90.0					19																	14516688		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.1758C>G	19.37:g.14516688C>G			A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	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_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L586	ENST00000242786.5	37	c.1758	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14516688	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.998	G
CEP85	64793	genome.wustl.edu	37	1	26603964	26603964	+	3'UTR	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:26603964G>T	ENST00000252992.4	+	0	2600				CEP85_ENST00000451429.2_3'UTR|CEP85_ENST00000469609.1_3'UTR|SH3BGRL3_ENST00000270792.5_5'Flank|SH3BGRL3_ENST00000319041.6_5'Flank	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa							centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						CTGGCATGTTGGATTACGTTT	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	64793			AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.*180G>T	1.37:g.26603964G>T			B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	RNA	SNP	-	NULL	ENST00000252992.4	37	NULL	CCDS277.1	1																																																																																			CEP85	-	-		0.502	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	CEP85	HGNC	protein_coding	OTTHUMT00000009492.2	G	NM_022778		26603964	+1	no_errors	ENST00000469609	ensembl	human	known	70_37	rna	SNP	0.002	T
CHTF8	54921	genome.wustl.edu	37	16	69153668	69153668	+	3'UTR	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:69153668G>C	ENST00000448552.2	-	0	1147				CHTF8_ENST00000518041.1_Intron|CHTF8_ENST00000574807.1_Missense_Mutation_p.P222A|CHTF8_ENST00000523421.1_Intron|CHTF8_ENST00000306585.6_Missense_Mutation_p.P222A	NM_001039690.3|NM_001040146.3	NP_001034779.1|NP_001035236.1	P0CG13	CTF8_HUMAN	CTF8, chromosome transmission fidelity factor 8 homolog (S. cerevisiae)						cell cycle (GO:0007049)|DNA replication (GO:0006260)	nucleus (GO:0005634)	DNA binding (GO:0003677)										CTGGGGGCAGGGTTTGTCCCT	0.592																																																	0																																										SO:0001624	3_prime_UTR_variant	54921				CCDS42185.1	16q22.1	2009-01-14				ENSG00000168802			24353	protein-coding gene	gene with protein product		613202				12766176	Standard	NM_001039690		Approved	FLJ20400, CTF8, DERPC	uc002ewo.2	P0CG12		ENST00000448552.2:c.*660C>G	16.37:g.69153668G>C			A8MYX8|Q71E72|Q8NDH8|Q8WV66|Q9NX73	Missense_Mutation	SNP	NULL	p.P222A	ENST00000448552.2	37	c.664	CCDS42185.1	16	.	.	.	.	.	.	.	.	.	.	g	11.27	1.589859	0.28357	.	.	ENSG00000168802	ENST00000306585	T	0.25579	1.79	5.19	2.11	0.27256	.	0.474043	0.17918	N	0.157593	T	0.08714	0.0216	.	.	.	0.20196	N	0.999924	B	0.10296	0.003	B	0.09377	0.004	T	0.38564	-0.9655	9	0.02654	T	1	-0.6929	5.7071	0.17915	0.1768:0.1598:0.6633:0.0	.	222	P0CG12	CTF8A_HUMAN	A	222	ENSP00000305687:P222A	ENSP00000305687:P222A	P	-	1	0	CHTF8	67711169	0.988000	0.35896	0.972000	0.41901	0.870000	0.49936	1.727000	0.38095	0.280000	0.22209	-0.119000	0.15052	CCT	CHTF8	-	NULL		0.592	CHTF8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHTF8	HGNC	protein_coding	OTTHUMT00000376352.2	G	NM_017804		69153668	-1	no_errors	ENST00000306585	ensembl	human	known	70_37	missense	SNP	0.985	C
CMSS1	84319	genome.wustl.edu	37	3	99536827	99536827	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:99536827G>T	ENST00000421999.2	+	1	150	c.4G>T	c.(4-6)Gca>Tca	p.A2S	CMSS1_ENST00000496116.1_3'UTR	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	2							poly(A) RNA binding (GO:0044822)										AGCTGAAATGGCAGACGATCT	0.642																																																	0													49.0	43.0	45.0					3																	99536827		2203	4300	6503	SO:0001583	missense	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.4G>T	3.37:g.99536827G>T	ENSP00000410396:p.Ala2Ser		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.A2S	ENST00000421999.2	37	c.4	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120111	0.56613	.	.	ENSG00000184220	ENST00000421999	T	0.41758	0.99	5.09	5.09	0.68999	.	0.530450	0.17765	N	0.162771	T	0.57257	0.2041	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.55244	-0.8171	10	0.62326	D	0.03	.	14.1727	0.65519	0.0:0.0:1.0:0.0	.	2	Q9BQ75	CC026_HUMAN	S	2	ENSP00000410396:A2S	ENSP00000410396:A2S	A	+	1	0	C3orf26	101019517	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.851000	0.55926	2.809000	0.96659	0.655000	0.94253	GCA	CMSS1	-	NULL		0.642	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359		99536827	+1	no_errors	ENST00000421999	ensembl	human	known	70_37	missense	SNP	1.000	T
CMSS1	84319	genome.wustl.edu	37	3	99536827	99536827	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:99536827G>T	ENST00000421999.2	+	1	150	c.4G>T	c.(4-6)Gca>Tca	p.A2S	CMSS1_ENST00000496116.1_3'UTR	NM_032359.3	NP_115735.2	Q9BQ75	CMS1_HUMAN	cms1 ribosomal small subunit homolog (yeast)	2							poly(A) RNA binding (GO:0044822)										AGCTGAAATGGCAGACGATCT	0.642																																																	0													49.0	43.0	45.0					3																	99536827		2203	4300	6503	SO:0001583	missense	84319				CCDS2935.1, CCDS54618.1	3q12.1	2012-09-20	2012-09-20	2012-09-20	ENSG00000184220	ENSG00000184220			28666	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 26"""	C3orf26		12477932	Standard	NM_032359		Approved	MGC4308	uc003dtl.3	Q9BQ75	OTTHUMG00000159054	ENST00000421999.2:c.4G>T	3.37:g.99536827G>T	ENSP00000410396:p.Ala2Ser		A8K5S7|B4DUM1|E9PHS3	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N	p.A2S	ENST00000421999.2	37	c.4	CCDS2935.1	3	.	.	.	.	.	.	.	.	.	.	G	16.43	3.120111	0.56613	.	.	ENSG00000184220	ENST00000421999	T	0.41758	0.99	5.09	5.09	0.68999	.	0.530450	0.17765	N	0.162771	T	0.57257	0.2041	L	0.46157	1.445	0.80722	D	1	D	0.63880	0.993	D	0.72625	0.978	T	0.55244	-0.8171	10	0.62326	D	0.03	.	14.1727	0.65519	0.0:0.0:1.0:0.0	.	2	Q9BQ75	CC026_HUMAN	S	2	ENSP00000410396:A2S	ENSP00000410396:A2S	A	+	1	0	C3orf26	101019517	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.851000	0.55926	2.809000	0.96659	0.655000	0.94253	GCA	CMSS1	-	NULL		0.642	CMSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMSS1	HGNC	protein_coding	OTTHUMT00000353060.1	G	NM_032359		99536827	+1	no_errors	ENST00000421999	ensembl	human	known	70_37	missense	SNP	1.000	T
CNTD1	124817	genome.wustl.edu	37	17	40961915	40961915	+	3'UTR	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:40961915G>C	ENST00000588408.1	+	0	1631				CNTD1_ENST00000315066.5_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1											central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAGCATCAAGGAGGTAGCCTT	0.363																																																	0																																										SO:0001624	3_prime_UTR_variant	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.*362G>C	17.37:g.40961915G>C			Q658Q6|Q8NEP1	RNA	SNP	-	NULL	ENST00000588408.1	37	NULL	CCDS11440.1	17																																																																																			CNTD1	-	-		0.363	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	G	NM_173478		40961915	+1	no_errors	ENST00000315066	ensembl	human	known	70_37	rna	SNP	0.001	C
CNTD1	124817	genome.wustl.edu	37	17	40962557	40962557	+	3'UTR	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:40962557G>C	ENST00000588408.1	+	0	2273				BECN1_ENST00000590099.1_3'UTR|BECN1_ENST00000438274.3_3'UTR|CNTD1_ENST00000315066.5_3'UTR|BECN1_ENST00000361523.4_3'UTR	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1											central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGGGGTTAAGAATCAAAACT	0.338																																																	0																																										SO:0001624	3_prime_UTR_variant	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.*1004G>C	17.37:g.40962557G>C			Q658Q6|Q8NEP1	RNA	SNP	-	NULL	ENST00000588408.1	37	NULL	CCDS11440.1	17																																																																																			CNTD1	-	-		0.338	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	G	NM_173478		40962557	+1	no_errors	ENST00000315066	ensembl	human	known	70_37	rna	SNP	0.011	C
CTNNA1	1495	genome.wustl.edu	37	5	138253527	138253527	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:138253527C>T	ENST00000302763.7	+	11	1576	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R393C|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R496C|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R126C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	496					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAACAAGTCCGTGTTCTCAC	0.433																																																	0													259.0	263.0	261.0					5																	138253527		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1486C>T	5.37:g.138253527C>T	ENSP00000304669:p.Arg496Cys		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R496C	ENST00000302763.7	37	c.1486	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914771	0.92178	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000523685;ENST00000540387	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.12	5.12	0.69794	.	0.056950	0.64402	D	0.000002	T	0.57917	0.2086	M	0.73217	2.22	0.80722	D	1	D;P;D	0.76494	0.999;0.6;0.998	P;B;P	0.58391	0.819;0.101;0.838	T	0.62158	-0.6913	10	0.66056	D	0.02	-5.1697	13.1594	0.59537	0.1599:0.8401:0.0:0.0	.	496;373;496	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	393;496;496;481;496;126;126	ENSP00000347190:R393C;ENSP00000304669:R496C;ENSP00000427821:R496C;ENSP00000430240:R126C;ENSP00000438476:R126C	ENSP00000304669:R496C	R	+	1	0	CTNNA1	138281426	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.926000	0.70070	2.382000	0.81193	0.650000	0.86243	CGT	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.433	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	C	NM_001903		138253527	+1	no_errors	ENST00000302763	ensembl	human	known	70_37	missense	SNP	1.000	T
CTNNA1	1495	genome.wustl.edu	37	5	138253527	138253527	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:138253527C>T	ENST00000302763.7	+	11	1576	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	CTNNA1_ENST00000355078.5_Missense_Mutation_p.R393C|CTNNA1_ENST00000518825.1_Missense_Mutation_p.R496C|CTNNA1_ENST00000540387.1_Missense_Mutation_p.R126C	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	496					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AAAACAAGTCCGTGTTCTCAC	0.433																																																	0													259.0	263.0	261.0					5																	138253527		2203	4300	6503	SO:0001583	missense	1495			D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.1486C>T	5.37:g.138253527C>T	ENSP00000304669:p.Arg496Cys		Q12795|Q8N1C0	Missense_Mutation	SNP	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin	p.R496C	ENST00000302763.7	37	c.1486	CCDS34243.1	5	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914771	0.92178	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000537034;ENST00000541863;ENST00000518825;ENST00000523685;ENST00000540387	T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05	5.12	5.12	0.69794	.	0.056950	0.64402	D	0.000002	T	0.57917	0.2086	M	0.73217	2.22	0.80722	D	1	D;P;D	0.76494	0.999;0.6;0.998	P;B;P	0.58391	0.819;0.101;0.838	T	0.62158	-0.6913	10	0.66056	D	0.02	-5.1697	13.1594	0.59537	0.1599:0.8401:0.0:0.0	.	496;373;496	G3XAM7;B4DKT9;P35221	.;.;CTNA1_HUMAN	C	393;496;496;481;496;126;126	ENSP00000347190:R393C;ENSP00000304669:R496C;ENSP00000427821:R496C;ENSP00000430240:R126C;ENSP00000438476:R126C	ENSP00000304669:R496C	R	+	1	0	CTNNA1	138281426	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	5.926000	0.70070	2.382000	0.81193	0.650000	0.86243	CGT	CTNNA1	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin		0.433	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNNA1	HGNC	protein_coding	OTTHUMT00000373868.1	C	NM_001903		138253527	+1	no_errors	ENST00000302763	ensembl	human	known	70_37	missense	SNP	1.000	T
CYP3A5	1577	genome.wustl.edu	37	7	99264297	99264297	+	Missense_Mutation	SNP	C	C	T	rs201847489		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:99264297C>T	ENST00000222982.4	-	6	547	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	CYP3A5_ENST00000480723.1_5'Flank|CYP3A5_ENST00000343703.5_Missense_Mutation_p.A140T|CYP3A5_ENST00000339843.2_3'UTR	NM_000777.3	NP_000768.1	P20815	CP3A5_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 5	150					alkaloid catabolic process (GO:0009822)|drug catabolic process (GO:0042737)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)				ado-trastuzumab emtansine(DB05773)|Alfentanil(DB00802)|Alprazolam(DB00404)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Apixaban(DB06605)|Aprepitant(DB00673)|Argatroban(DB00278)|Aripiprazole(DB01238)|Artemether(DB06697)|Astemizole(DB00637)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Beclomethasone(DB00394)|Boceprevir(DB08873)|Brentuximab vedotin(DB08870)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clonidine(DB00575)|Clopidogrel(DB00758)|Cocaine(DB00907)|Codeine(DB00318)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diltiazem(DB00343)|Disulfiram(DB00822)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Dutasteride(DB01126)|Enzalutamide(DB08899)|Eplerenone(DB00700)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estrone(DB00655)|Ethosuximide(DB00593)|Etoposide(DB00773)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluticasone Propionate(DB00588)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gestodene(DB06730)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Losartan(DB00678)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Modafinil(DB00745)|Mycophenolate mofetil(DB00688)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxcarbazepine(DB00776)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Pentamidine(DB00738)|Perampanel(DB08883)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Rosuvastatin(DB01098)|Salmeterol(DB00938)|Saquinavir(DB01232)|Saxagliptin(DB06335)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Teniposide(DB00444)|Testosterone(DB00624)|Thalidomide(DB01041)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Troleandomycin(DB01361)|Udenafil(DB06267)|Valproic Acid(DB00313)|Vardenafil(DB00862)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	CCATACTGGGCAATGATGGGG	0.478																																																	0													143.0	128.0	133.0					7																	99264297		2203	4300	6503	SO:0001583	missense	1577			L26985	CCDS5672.1, CCDS55134.1	7q21.1	2007-12-14	2003-01-14		ENSG00000106258	ENSG00000106258		"""Cytochrome P450s"""	2638	protein-coding gene	gene with protein product		605325	"""cytochrome P450, subfamily IIIA (niphedipine oxidase), polypeptide 5"""				Standard	NR_033808		Approved	PCN3, P450PCN3, CP35		P20815	OTTHUMG00000156724	ENST00000222982.4:c.448G>A	7.37:g.99264297C>T	ENSP00000222982:p.Ala150Thr		A4D289|B7Z5I7|Q53WY8|Q75MV0|Q9HB56	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.A150T	ENST00000222982.4	37	c.448	CCDS5672.1	7	.	.	.	.	.	.	.	.	.	.	C	8.682	0.905472	0.17760	.	.	ENSG00000106258	ENST00000222982;ENST00000343703	T;T	0.68181	-0.31;-0.31	3.74	-2.02	0.07388	.	1.042500	0.07586	N	0.921187	T	0.44973	0.1319	N	0.12887	0.27	0.09310	N	1	B;B	0.17268	0.021;0.014	B;B	0.11329	0.004;0.006	T	0.24870	-1.0148	10	0.29301	T	0.29	.	9.1547	0.36985	0.0:0.1834:0.0:0.8166	.	140;150	F5H4S0;P20815	.;CP3A5_HUMAN	T	150;140	ENSP00000222982:A150T;ENSP00000342969:A140T	ENSP00000222982:A150T	A	-	1	0	CYP3A5	99102233	0.000000	0.05858	0.158000	0.22627	0.862000	0.49288	-1.140000	0.03210	-0.344000	0.08338	-0.345000	0.07892	GCC	CYP3A5	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.478	CYP3A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A5	HGNC	protein_coding	OTTHUMT00000345469.1	C			99264297	-1	no_errors	ENST00000222982	ensembl	human	known	70_37	missense	SNP	0.003	T
DISP1	84976	genome.wustl.edu	37	1	223116265	223116265	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:223116265G>A	ENST00000284476.6	+	2	264	c.100G>A	c.(100-102)Gac>Aac	p.D34N	DISP1_ENST00000360254.2_Missense_Mutation_p.D34N|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	34					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTGTGATGGAGACCATGCAGC	0.498																																																	0													133.0	121.0	125.0					1																	223116265		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.100G>A	1.37:g.223116265G>A	ENSP00000284476:p.Asp34Asn		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.D34N	ENST00000284476.6	37	c.100	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653782	0.67472	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93547	0.47;-3.24	5.77	5.77	0.91146	.	0.065887	0.56097	D	0.000022	D	0.91002	0.7170	M	0.67953	2.075	0.37578	D	0.919686	P	0.38922	0.651	B	0.30401	0.115	D	0.92885	0.6326	10	0.72032	D	0.01	-40.4354	14.1789	0.65562	0.0714:0.0:0.9286:0.0	.	34	Q96F81	DISP1_HUMAN	N	34	ENSP00000355848:D34N;ENSP00000284476:D34N	ENSP00000284476:D34N	D	+	1	0	DISP1	221182888	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.460000	0.66691	2.728000	0.93425	0.650000	0.86243	GAC	DISP1	-	NULL		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	G	NM_032890		223116265	+1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	A
DISP1	84976	genome.wustl.edu	37	1	223116265	223116265	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:223116265G>A	ENST00000284476.6	+	2	264	c.100G>A	c.(100-102)Gac>Aac	p.D34N	DISP1_ENST00000360254.2_Missense_Mutation_p.D34N|DISP1_ENST00000495684.1_Intron	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	34					determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTGTGATGGAGACCATGCAGC	0.498																																																	0													133.0	121.0	125.0					1																	223116265		2203	4300	6503	SO:0001583	missense	84976			AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.100G>A	1.37:g.223116265G>A	ENSP00000284476:p.Asp34Asn		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.D34N	ENST00000284476.6	37	c.100	CCDS1536.1	1	.	.	.	.	.	.	.	.	.	.	G	18.58	3.653782	0.67472	.	.	ENSG00000154309	ENST00000360254;ENST00000284476	T;D	0.93547	0.47;-3.24	5.77	5.77	0.91146	.	0.065887	0.56097	D	0.000022	D	0.91002	0.7170	M	0.67953	2.075	0.37578	D	0.919686	P	0.38922	0.651	B	0.30401	0.115	D	0.92885	0.6326	10	0.72032	D	0.01	-40.4354	14.1789	0.65562	0.0714:0.0:0.9286:0.0	.	34	Q96F81	DISP1_HUMAN	N	34	ENSP00000355848:D34N;ENSP00000284476:D34N	ENSP00000284476:D34N	D	+	1	0	DISP1	221182888	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	5.460000	0.66691	2.728000	0.93425	0.650000	0.86243	GAC	DISP1	-	NULL		0.498	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	DISP1	HGNC	protein_coding	OTTHUMT00000092512.1	G	NM_032890		223116265	+1	no_errors	ENST00000284476	ensembl	human	known	70_37	missense	SNP	1.000	A
DLGAP1	9229	genome.wustl.edu	37	18	3993182	3993182	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr18:3993182G>T	ENST00000315677.3	-	3	524				DLGAP1-AS4_ENST00000582054.1_RNA|DLGAP1_ENST00000581527.1_Intron|DLGAP1_ENST00000515196.2_Intron	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CTCTTGCACCGGCGACTCACG	0.453																																																	0																																										SO:0001627	intron_variant	101410534			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.71+11933C>A	18.37:g.3993182G>T			A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	RNA	SNP	-	NULL	ENST00000315677.3	37	NULL	CCDS11836.1	18																																																																																			DLGAP1-AS4	-	-		0.453	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1-AS4	HGNC	protein_coding	OTTHUMT00000254394.4	G			3993182	+1	no_errors	ENST00000582054	ensembl	human	known	70_37	rna	SNP	0.001	T
DTD1	92675	genome.wustl.edu	37	20	18576746	18576746	+	Silent	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:18576746C>A	ENST00000377452.3	+	3	411	c.231C>A	c.(229-231)gtC>gtA	p.V77V	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	77					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						TTCTGTGTGTCAGCCAGTTTA	0.507																																																	0													129.0	106.0	113.0					20																	18576746		2203	4300	6503	SO:0001819	synonymous_variant	92675			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.231C>A	20.37:g.18576746C>A			A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls	p.V77	ENST00000377452.3	37	c.231	CCDS13138.1	20																																																																																			DTD1	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls		0.507	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD1	HGNC	protein_coding	OTTHUMT00000078189.3	C	NM_080820		18576746	+1	no_errors	ENST00000377452	ensembl	human	known	70_37	silent	SNP	1.000	A
DTD1	92675	genome.wustl.edu	37	20	18576746	18576746	+	Silent	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:18576746C>A	ENST00000377452.3	+	3	411	c.231C>A	c.(229-231)gtC>gtA	p.V77V	DTD1_ENST00000494921.1_3'UTR	NM_080820.4	NP_543010.3	Q8TEA8	DTD1_HUMAN	D-tyrosyl-tRNA deacylase 1	77					D-amino acid catabolic process (GO:0019478)|DNA replication (GO:0006260)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|hydrolase activity, acting on ester bonds (GO:0016788)|metal ion binding (GO:0046872)			large_intestine(4)|lung(1)|ovary(2)	7						TTCTGTGTGTCAGCCAGTTTA	0.507																																																	0													129.0	106.0	113.0					20																	18576746		2203	4300	6503	SO:0001819	synonymous_variant	92675			AF332356	CCDS13138.1	20p11.23	2012-09-25	2012-09-25	2007-02-23	ENSG00000125821	ENSG00000125821			16219	protein-coding gene	gene with protein product		610996	"""chromosome 20 open reading frame 88"", ""D-tyrosyl-tRNA deacylase 1 homolog (S. cerevisiae)"""	C20orf88, HARS2			Standard	NM_080820		Approved	DUEB, MGC119131, MGC41905, bA379J5.3, bA555E18.1, pqn-68	uc002wrf.4	Q8TEA8	OTTHUMG00000031980	ENST00000377452.3:c.231C>A	20.37:g.18576746C>A			A8K5X5|D3DW37|Q496D1|Q5W184|Q8WXU8|Q9BW67|Q9H464|Q9H474	Silent	SNP	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls	p.V77	ENST00000377452.3	37	c.231	CCDS13138.1	20																																																																																			DTD1	-	pfam_DTyrtRNA_deacyls,superfamily_DTD-like_dom,tigrfam_DTyrtRNA_deacyls		0.507	DTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTD1	HGNC	protein_coding	OTTHUMT00000078189.3	C	NM_080820		18576746	+1	no_errors	ENST00000377452	ensembl	human	known	70_37	silent	SNP	1.000	A
RAB5A	5868	genome.wustl.edu	37	3	19988414	19988414	+	5'Flank	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:19988414G>T	ENST00000273047.4	+	0	0				RAB5A_ENST00000422242.1_5'Flank|EFHB_ENST00000344838.4_5'UTR	NM_004162.4	NP_004153.2	P20339	RAB5A_HUMAN	RAB5A, member RAS oncogene family						blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|early endosome to late endosome transport (GO:0045022)|endocytosis (GO:0006897)|GTP catabolic process (GO:0006184)|nervous system development (GO:0007399)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|receptor internalization involved in canonical Wnt signaling pathway (GO:2000286)|regulation of endosome size (GO:0051036)|regulation of filopodium assembly (GO:0051489)|regulation of synaptic vesicle exocytosis (GO:2000300)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon terminus (GO:0043679)|cytoplasm (GO:0005737)|cytoplasmic side of early endosome membrane (GO:0098559)|cytosol (GO:0005829)|dendrite (GO:0030425)|early endosome (GO:0005769)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|somatodendritic compartment (GO:0036477)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			lung(1)|urinary_tract(1)	2						CGCGTACCTGGGGTGGGGGAA	0.657																																																	0																																										SO:0001631	upstream_gene_variant	151651				CCDS2633.1	3p24-p22	2008-07-18			ENSG00000144566	ENSG00000144566		"""RAB, member RAS oncogene"""	9783	protein-coding gene	gene with protein product	"""RAS-associated protein RAB5A"""	179512		RAB5		1999336	Standard	NM_004162		Approved		uc003cbn.3	P20339	OTTHUMG00000129889		3.37:g.19988414G>T	Exception_encountered		B4DJA5|Q6FI44	RNA	SNP	-	NULL	ENST00000273047.4	37	NULL	CCDS2633.1	3																																																																																			EFHB	-	-		0.657	RAB5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFHB	HGNC	protein_coding	OTTHUMT00000252137.2	G	NM_004162		19988414	-1	no_errors	ENST00000474780	ensembl	human	putative	70_37	rna	SNP	0.000	T
LINC01285	101928287	genome.wustl.edu	37	X	117991591	117991591	+	lincRNA	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:117991591C>T	ENST00000412422.2	+	0	2031																											cgcctgtaatcccagcacttt	0.463																																																	0																																												0																															X.37:g.117991591C>T				RNA	SNP	-	NULL	ENST00000412422.2	37	NULL		X																																																																																			RP4-562J12.2	-	-		0.463	RP4-562J12.2-001	KNOWN	basic	lincRNA	ENSG00000203650	Clone_based_vega_gene	lincRNA	OTTHUMT00000058013.2	C			117991591	+1	no_errors	ENST00000412422	ensembl	human	known	70_37	rna	SNP	0.004	T
AP000318.2	0	genome.wustl.edu	37	21	35697304	35697304	+	lincRNA	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr21:35697304G>A	ENST00000427022.1	+	0	775				AP000320.7_ENST00000362077.4_RNA																							atgtgtgtgtgtgtgtgtgtg	0.378																																																	0																																												0																															21.37:g.35697304G>A				RNA	SNP	-	NULL	ENST00000427022.1	37	NULL		21																																																																																			AP000318.2	-	-		0.378	AP000318.2-001	KNOWN	basic	lincRNA	ENSG00000214955	Clone_based_vega_gene	lincRNA	OTTHUMT00000194066.1	G			35697304	+1	no_errors	ENST00000427022	ensembl	human	known	70_37	rna	SNP	0.036	A
AC026188.1	0	genome.wustl.edu	37	3	3357210	3357210	+	lincRNA	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:3357210G>T	ENST00000455703.1	-	0	507																											CCATTCTCTGGTAAActtcat	0.438																																																	0																																												0																															3.37:g.3357210G>T				RNA	SNP	-	NULL	ENST00000455703.1	37	NULL		3																																																																																			AC026188.1	-	-		0.438	AC026188.1-001	KNOWN	basic	lincRNA	ENSG00000223727	Clone_based_vega_gene	lincRNA	OTTHUMT00000337894.1	G			3357210	-1	no_errors	ENST00000455703	ensembl	human	known	70_37	rna	SNP	0.001	T
TMEM82	388595	genome.wustl.edu	37	1	16076186	16076186	+	IGR	SNP	A	A	G	rs377633635	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:16076186A>G	ENST00000375782.1	+	0	1520				RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82							integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTCCCCCAATGCAGGACCC	0.612																																																	0																																										SO:0001628	intergenic_variant	0				CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8			1.37:g.16076186A>G			B2RP27|Q5VVD4	RNA	SNP	-	NULL	ENST00000375782.1	37	NULL	CCDS30608.1	1																																																																																			RP11-169K16.4	-	-		0.612	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224459	Clone_based_vega_gene	protein_coding	OTTHUMT00000008471.2	A	NM_001013641		16076186	-1	no_errors	ENST00000418525	ensembl	human	known	70_37	rna	SNP	0.000	G
Unknown	0	genome.wustl.edu	37	1	143265424	143265424	+	IGR	SNP	T	T	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:143265424T>G								RP11-782C8.1 (32007 upstream) : RP11-435B5.3 (82545 downstream)																							GACCATGGAGTCGAGAGCTGA	0.453																																																	0																																										SO:0001628	intergenic_variant	0																															1.37:g.143265424T>G				RNA	SNP	-	NULL		37	NULL		1																																																																																			BX571672.5	-	-	0	0.453					ENSG00000225278	Clone_based_vega_gene			T			143265424	-1	no_errors	ENST00000416367	ensembl	human	known	70_37	rna	SNP	0.272	G
RP11-29B9.1	0	genome.wustl.edu	37	9	7932139	7932139	+	lincRNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:7932139C>A	ENST00000413066.1	-	0	69																											tggtgagggtctagtttctga	0.408																																																	0																																												0																															9.37:g.7932139C>A				RNA	SNP	-	NULL	ENST00000413066.1	37	NULL		9																																																																																			RP11-29B9.1	-	-		0.408	RP11-29B9.1-001	KNOWN	basic	lincRNA	ENSG00000226376	Clone_based_vega_gene	lincRNA	OTTHUMT00000051706.1	C			7932139	-1	no_errors	ENST00000413066	ensembl	human	known	70_37	rna	SNP	0.005	A
LOC101929486	101929486	genome.wustl.edu	37	20	12846314	12846314	+	lincRNA	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:12846314G>A	ENST00000456265.1	-	0	2568																											TCCGAGATGGGGGATAATTGT	0.418																																																	0																																												0																															20.37:g.12846314G>A				RNA	SNP	-	NULL	ENST00000456265.1	37	NULL		20																																																																																			RP5-1069C8.2	-	-		0.418	RP5-1069C8.2-001	KNOWN	basic	lincRNA	ENSG00000233048	Clone_based_vega_gene	lincRNA	OTTHUMT00000078030.1	G			12846314	-1	no_errors	ENST00000456265	ensembl	human	known	70_37	rna	SNP	0.000	A
CD68	968	genome.wustl.edu	37	17	7485338	7485339	+	3'UTR	INS	-	-	CCCA	rs568475665|rs546204518	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:7485338_7485339insCCCA	ENST00000250092.6	+	0	1785_1786				MPDU1_ENST00000582151.1_5'Flank|AC113189.5_ENST00000417897.1_RNA|AC113189.5_ENST00000415124.1_RNA|AC113189.5_ENST00000573187.1_RNA|CD68_ENST00000380498.6_3'UTR|MPDU1_ENST00000423172.2_5'Flank|MPDU1_ENST00000396501.4_5'Flank|AC113189.5_ENST00000572046.1_RNA|MPDU1_ENST00000250124.6_5'Flank	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule						cellular response to organic substance (GO:0071310)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				endometrium(1)|lung(1)|skin(1)	3						TGCCCCCCCCCCCCCCCCAGCA	0.47																																																	0																																										SO:0001624	3_prime_UTR_variant	0			S57235	CCDS11114.1, CCDS58512.1	17p13	2011-11-24	2006-03-28		ENSG00000129226	ENSG00000129226		"""CD molecules"""	1693	protein-coding gene	gene with protein product	"""scavenger receptor class D, member 1"", ""CD68 antigen"", ""macrophage antigen CD68"""	153634	"""CD68 antigen"""			9790779	Standard	NM_001251		Approved	SCARD1, macrosialin, GP110, DKFZp686M18236, LAMP4	uc002ghv.3	P34810	OTTHUMG00000108146	ENST00000250092.6:c.*510->CCCA	17.37:g.7485338_7485339insCCCA			B4DVT4|Q53HR6|Q53XI3|Q96BI7	RNA	INS	-	NULL	ENST00000250092.6	37	NULL	CCDS11114.1	17																																																																																			AC113189.5	-	-		0.470	CD68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000233223	Clone_based_vega_gene	protein_coding	OTTHUMT00000226949.3	-	NM_001251		7485339	-1	no_errors	ENST00000415124	ensembl	human	known	70_37	rna	INS	0.000:0.000	CCCA
RP11-168K11.3	0	genome.wustl.edu	37	9	116382726	116382726	+	lincRNA	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:116382726G>T	ENST00000437712.1	+	0	855																											AAgagtcgcgggatcttggac	0.537																																																	0																																												0																															9.37:g.116382726G>T				RNA	SNP	-	NULL	ENST00000437712.1	37	NULL		9																																																																																			RP11-168K11.3	-	-		0.537	RP11-168K11.3-014	KNOWN	basic	lincRNA	ENSG00000233817	Clone_based_vega_gene	lincRNA	OTTHUMT00000053742.1	G			116382726	+1	no_errors	ENST00000437712	ensembl	human	known	70_37	rna	SNP	0.001	T
AC004543.2	0	genome.wustl.edu	37	7	19857692	19857692	+	lincRNA	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:19857692G>C	ENST00000418764.2	-	0	21																											tggcagaggggaagcaggcac	0.448																																																	0																																												0																															7.37:g.19857692G>C				RNA	SNP	-	NULL	ENST00000418764.2	37	NULL		7																																																																																			AC004543.2	-	-		0.448	AC004543.2-001	KNOWN	basic	lincRNA	ENSG00000237921	Clone_based_vega_gene	lincRNA	OTTHUMT00000326541.1	G			19857692	-1	no_errors	ENST00000418764	ensembl	human	known	70_37	rna	SNP	0.057	C
RP11-431K24.1	0	genome.wustl.edu	37	1	8182160	8182160	+	lincRNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:8182160C>A	ENST00000445300.1	+	0	1442																											caaatgcttactgaggagcta	0.393																																																	0																																												0																															1.37:g.8182160C>A				RNA	SNP	-	NULL	ENST00000445300.1	37	NULL		1																																																																																			RP11-431K24.1	-	-		0.393	RP11-431K24.1-001	KNOWN	basic	lincRNA	ENSG00000238290	Clone_based_vega_gene	lincRNA	OTTHUMT00000004926.1	C			8182160	+1	no_errors	ENST00000445300	ensembl	human	known	70_37	rna	SNP	0.000	A
PSME4	23198	genome.wustl.edu	37	2	54198339	54198339	+	5'Flank	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:54198339G>C	ENST00000404125.1	-	0	0				ACYP2_ENST00000422521.2_5'UTR|ACYP2_ENST00000606082.1_5'UTR|ACYP2_ENST00000458030.3_3'UTR|ACYP2_ENST00000607452.1_5'UTR	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4						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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GGCCCAGCGCGAGGCTGCCTC	0.721																																																	0																																										SO:0001631	upstream_gene_variant	0			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852		2.37:g.54198339G>C	Exception_encountered		Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	RNA	SNP	-	NULL	ENST00000404125.1	37	NULL	CCDS33197.2	2																																																																																			AC008280.5	-	-		0.721	PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000239235	Clone_based_vega_gene	protein_coding	OTTHUMT00000324163.1	G	XM_040158		54198339	+1	no_errors	ENST00000422521	ensembl	human	known	70_37	rna	SNP	0.001	C
KDM1A	23028	genome.wustl.edu	37	1	23346978	23346979	+	Intron	INS	-	-	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:23346978_23346979insT	ENST00000356634.3	+	1	500				RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000400181.4_Intron|KDM1A_ENST00000542151.1_Intron	NM_015013.3	NP_055828.2	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A						blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|histone H3-K4 demethylation (GO:0034720)|histone H3-K9 demethylation (GO:0033169)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of DNA binding (GO:0043392)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of protein binding (GO:0032091)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pituitary gland development (GO:0021983)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein demethylation (GO:0006482)|regulation of primitive erythrocyte differentiation (GO:0010725)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|demethylase activity (GO:0032451)|enzyme binding (GO:0019899)|flavin adenine dinucleotide binding (GO:0050660)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-K4 specific) (GO:0032453)|histone demethylase activity (H3-K9 specific) (GO:0032454)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|MRF binding (GO:0043426)|oxidoreductase activity (GO:0016491)|p53 binding (GO:0002039)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GAGTTCTAGTCTTTTTTTTTTT	0.396																																																	0																																										SO:0001627	intron_variant	0			AL031428	CCDS30627.1, CCDS53278.1	1p36.12	2011-07-01	2009-09-29	2009-09-29	ENSG00000004487	ENSG00000004487		"""Chromatin-modifying enzymes / K-demethylases"""	29079	protein-coding gene	gene with protein product		609132	"""amine oxidase (flavin containing) domain 2"", ""lysine (K)-specific demethylase 1"""	AOF2, KDM1		9628581, 12493763	Standard	NM_015013		Approved	KIAA0601, BHC110, LSD1	uc001bgj.2	O60341	OTTHUMG00000003220	ENST00000356634.3:c.351+538->T	1.37:g.23346989_23346989dupT			A8MWP9|Q5TH94|Q5TH95|Q86VT7|Q8IXK4|Q8NDP6|Q8TAZ3|Q96AW4	RNA	INS	-	NULL	ENST00000356634.3	37	NULL	CCDS30627.1	1																																																																																			RP1-184J9.2	-	-		0.396	KDM1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000240553	Clone_based_vega_gene	protein_coding	OTTHUMT00000008880.3	-	NM_015013		23346979	-1	no_errors	ENST00000427154	ensembl	human	putative	70_37	rna	INS	0.000:0.000	T
LOC730102	730102	genome.wustl.edu	37	1	178006533	178006533	+	RNA	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:178006533C>G	ENST00000476232.2	-	0	162					NR_037167.1																						TGTGTTAAACCAATAACTTGC	0.483																																																	0																																												0																															1.37:g.178006533C>G				RNA	SNP	-	NULL	ENST00000476232.2	37	NULL		1																																																																																			RP11-568K15.1	-	-		0.483	RP11-568K15.1-002	KNOWN	basic	processed_transcript	ENSG00000242193	Clone_based_vega_gene	pseudogene	OTTHUMT00000337461.2	C			178006533	-1	no_errors	ENST00000481349	ensembl	human	putative	70_37	rna	SNP	0.002	G
PCGF3	10336	genome.wustl.edu	37	4	716118	716118	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:716118G>T	ENST00000362003.5	+	2	206				PCGF3_ENST00000521023.2_Intron|RP11-1191J2.4_ENST00000502923.1_RNA|PCGF3_ENST00000482726.1_Intron|PCGF3_ENST00000400151.2_Intron|PCGF3_ENST00000470161.2_Intron	NM_006315.4	NP_006306.2	Q3KNV8	PCGF3_HUMAN	polycomb group ring finger 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(1)	7						CTGCAGGCGCGACTCAGAACA	0.547																																																	0																																										SO:0001627	intron_variant	0			AK093869	CCDS3339.2	4p16.3	2013-01-09	2005-01-17	2005-01-19	ENSG00000185619	ENSG00000185619		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	10066	protein-coding gene	gene with protein product			"""ring finger protein 3"""	RNF3			Standard	XM_005272250		Approved	FLJ36550, DONG1, RNF3A, MGC40413	uc003gbe.3	Q3KNV8	OTTHUMG00000119000	ENST00000362003.5:c.-189-8301G>T	4.37:g.716118G>T			D3DVN1|O15262	RNA	SNP	-	NULL	ENST00000362003.5	37	NULL	CCDS3339.2	4																																																																																			RP11-1191J2.4	-	-		0.547	PCGF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000248416	Clone_based_vega_gene	protein_coding	OTTHUMT00000239197.2	G	NM_006315		716118	-1	no_errors	ENST00000502923	ensembl	human	known	70_37	rna	SNP	0.007	T
TMEM132D	121256	genome.wustl.edu	37	12	129595958	129595958	+	Intron	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:129595958G>A	ENST00000422113.2	-	6	1770				RP11-669N7.2_ENST00000542535.1_RNA|RP11-669N7.2_ENST00000510001.2_RNA|RP11-669N7.2_ENST00000537367.1_RNA|RP11-669N7.2_ENST00000541320.1_RNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D						negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		gtgggaattcgttacagcagc	0.488																																																	0																																										SO:0001627	intron_variant	0			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.1444-26711C>T	12.37:g.129595958G>A			Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	RNA	SNP	-	NULL	ENST00000422113.2	37	NULL	CCDS9266.1	12																																																																																			RP11-669N7.2	-	-		0.488	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249196	Clone_based_vega_gene	protein_coding	OTTHUMT00000399592.1	G	NM_133448		129595958	+1	no_errors	ENST00000512133	ensembl	human	known	70_37	rna	SNP	0.000	A
LOC101927815	101927815	genome.wustl.edu	37	8	2453789	2453789	+	lincRNA	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:2453789C>T	ENST00000515276.2	-	0	227																											GGAGATTTCTCCTGCATCTAG	0.313																																																	0																																												0																															8.37:g.2453789C>T				RNA	SNP	-	NULL	ENST00000515276.2	37	NULL		8																																																																																			RP11-378A12.1	-	-		0.313	RP11-378A12.1-001	KNOWN	basic	lincRNA	ENSG00000249694	Clone_based_vega_gene	lincRNA	OTTHUMT00000374504.1	C			2453789	-1	no_errors	ENST00000515276	ensembl	human	known	70_37	rna	SNP	0.001	T
LOC105377443	105377443	genome.wustl.edu	37	4	138522499	138522499	+	lincRNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:138522499C>A	ENST00000507365.1	+	0	179																											cacggtggctcacacctataa	0.498																																																	0																																												0																															4.37:g.138522499C>A				RNA	SNP	-	NULL	ENST00000507365.1	37	NULL		4																																																																																			RP11-714L20.1	-	-		0.498	RP11-714L20.1-001	KNOWN	basic	lincRNA	ENSG00000251632	Clone_based_vega_gene	lincRNA	OTTHUMT00000364620.1	C			138522499	+1	no_errors	ENST00000507365	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-97E7.1	0	genome.wustl.edu	37	4	172485127	172485127	+	lincRNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:172485127C>A	ENST00000399152.2	-	0	165																											gtagtcccagctactcaggag	0.552																																																	0																																												0																															4.37:g.172485127C>A				RNA	SNP	-	NULL	ENST00000399152.2	37	NULL		4																																																																																			RP11-97E7.1	-	-		0.552	RP11-97E7.1-001	KNOWN	basic	lincRNA	ENSG00000251176	Clone_based_vega_gene	lincRNA	OTTHUMT00000362773.1	C			172485127	-1	no_errors	ENST00000399152	ensembl	human	putative	70_37	rna	SNP	0.142	A
PKD1L2	114780	genome.wustl.edu	37	16	81140204	81140204	+	RNA	SNP	T	T	A	rs200574510|rs66491925		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:81140204T>A	ENST00000534142.1	-	0	1606				PKD1L2_ENST00000533478.1_RNA|RNU6-1191P_ENST00000516799.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						atcctctctgtacaaagtttg	0.333																																																	0																																												0			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81140204T>A			Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	RNA	SNP	-	NULL	ENST00000534142.1	37	NULL		16																																																																																			U6	-	-		0.333	PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	ENSG00000252608	RFAM	polymorphic_pseudogene	OTTHUMT00000387969.1	T			81140204	-1	no_errors	ENST00000516799	ensembl	human	novel	70_37	rna	SNP	0.041	A
NDUFAF6	137682	genome.wustl.edu	37	8	96097859	96097860	+	RNA	INS	-	-	CA	rs113150700	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:96097859_96097860insCA	ENST00000518598.1	-	0	313_314																											aatagccactgcactccagcct	0.441																																																	0																																												0																															8.37:g.96097860_96097861dupCA				RNA	INS	-	NULL	ENST00000518598.1	37	NULL		8																																																																																			RP11-320N21.2	-	-		0.441	RP11-320N21.2-001	KNOWN	basic	antisense	ENSG00000254248	Clone_based_vega_gene	antisense	OTTHUMT00000379848.1	-			96097860	-1	no_errors	ENST00000518598	ensembl	human	known	70_37	rna	INS	0.010:0.009	CA
RP11-267L5.1	0	genome.wustl.edu	37	8	115307783	115307783	+	lincRNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:115307783C>A	ENST00000520543.1	+	0	592																											GCCACATAAACTGATGGTACA	0.373																																																	0																																												0																															8.37:g.115307783C>A				RNA	SNP	-	NULL	ENST00000520543.1	37	NULL		8																																																																																			RP11-267L5.1	-	-		0.373	RP11-267L5.1-004	KNOWN	mRNA_end_NF|basic	lincRNA	ENSG00000254339	Clone_based_vega_gene	lincRNA	OTTHUMT00000380874.1	C			115307783	+1	no_errors	ENST00000507929	ensembl	human	known	70_37	rna	SNP	0.001	A
KHDRBS3	10656	genome.wustl.edu	37	8	136468729	136468729	+	5'Flank	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:136468729G>T	ENST00000355849.5	+	0	0				RP11-343P9.1_ENST00000518674.1_RNA|KHDRBS3_ENST00000520981.1_5'Flank	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3						regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			gctttgccagggaggtcctga	0.532																																																	0																																										SO:0001631	upstream_gene_variant	0			AF069681	CCDS6374.1	8q24.23	2008-05-15			ENSG00000131773	ENSG00000131773			18117	protein-coding gene	gene with protein product		610421				10332027, 10564820	Standard	XR_242372		Approved	T-STAR, Etle, etoile, SALP, SLM2, SLM-2	uc003yuv.3	O75525	OTTHUMG00000164164		8.37:g.136468729G>T	Exception_encountered		Q6NUL8|Q9UPA8	RNA	SNP	-	NULL	ENST00000355849.5	37	NULL	CCDS6374.1	8																																																																																			RP11-343P9.1	-	-		0.532	KHDRBS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254372	Clone_based_vega_gene	protein_coding	OTTHUMT00000377529.1	G			136468729	-1	no_errors	ENST00000518674	ensembl	human	known	70_37	rna	SNP	0.000	T
PKNOX2	63876	genome.wustl.edu	37	11	125128900	125128900	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:125128900G>T	ENST00000298282.9	+	2	142				PKNOX2_ENST00000542175.1_Intron|RP11-687M24.8_ENST00000526796.2_RNA|PKNOX2_ENST00000530517.1_Intron	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2						regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GCATAGTGTCGGACACATACT	0.453																																																	0																																										SO:0001627	intron_variant	0			AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.-130+23889G>T	11.37:g.125128900G>T			B7Z5I5|F5GZ15|Q63HL6|Q86XD1	RNA	SNP	-	NULL	ENST00000298282.9	37	NULL	CCDS41730.1	11																																																																																			RP11-687M24.8	-	-		0.453	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254932	Clone_based_vega_gene	protein_coding	OTTHUMT00000386866.3	G			125128900	-1	no_errors	ENST00000526796	ensembl	human	known	70_37	rna	SNP	0.000	T
RP11-444D3.1	0	genome.wustl.edu	37	12	24715337	24715337	+	lincRNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:24715337C>A	ENST00000538905.1	-	0	0																											TGGGGGCCCCCGGGAGGAGAC	0.592																																																	0																																												0																															12.37:g.24715337C>A				RNA	SNP	-	NULL	ENST00000538905.1	37	NULL		12																																																																																			RP11-444D3.1	-	-		0.592	RP11-444D3.1-004	KNOWN	basic	lincRNA	ENSG00000255864	Clone_based_vega_gene	lincRNA	OTTHUMT00000402100.1	C			24715337	-1	no_errors	ENST00000429944	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC101928940	101928940	genome.wustl.edu	37	11	114233247	114233248	+	RNA	INS	-	-	TGTG	rs34066607|rs10638961|rs71063566|rs117065443		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:114233247_114233248insTGTG	ENST00000534904.2	-	0	1945_1946																											TAAtgtgtctctgtgtgtgtgt	0.406																																																	0																																												0																															11.37:g.114233252_114233255dupTGTG				RNA	INS	-	NULL	ENST00000534904.2	37	NULL		11																																																																																			RP11-64D24.4	-	-		0.406	RP11-64D24.4-001	KNOWN	basic	antisense	ENSG00000256195	Clone_based_vega_gene	antisense	OTTHUMT00000398958.2	-			114233248	-1	no_errors	ENST00000534904	ensembl	human	known	70_37	rna	INS	0.080:0.101	TGTG
ATL3	25923	genome.wustl.edu	37	11	63426389	63426389	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:63426389G>T	ENST00000398868.3	-	3	538				ATL3_ENST00000535789.1_5'Flank|ATL3_ENST00000538786.1_Intron|RP11-697H9.2_ENST00000540307.1_RNA|ATL3_ENST00000332645.4_Intron	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3						endoplasmic reticulum organization (GO:0007029)|Golgi organization (GO:0007030)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						ACAGAAGTAAGAAATTTCTAT	0.348																																																	0													70.0	69.0	69.0					11																	63426389		1790	4056	5846	SO:0001627	intron_variant	0				CCDS41663.1, CCDS73309.1	11q13.1	2008-09-17			ENSG00000184743	ENSG00000184743			24526	protein-coding gene	gene with protein product		609369				18270207	Standard	XM_005273891		Approved	DKFZP564J0863	uc001nxk.1	Q6DD88	OTTHUMG00000167854	ENST00000398868.3:c.262-13C>A	11.37:g.63426389G>T			Q8N7W5|Q9H8Q5|Q9UFL1	RNA	SNP	-	NULL	ENST00000398868.3	37	NULL	CCDS41663.1	11																																																																																			RP11-697H9.2	-	-		0.348	ATL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000256789	Clone_based_vega_gene	protein_coding	OTTHUMT00000396637.1	G	NM_015459		63426389	+1	no_errors	ENST00000540307	ensembl	human	known	70_37	rna	SNP	0.000	T
RELT	84957	genome.wustl.edu	37	11	73106618	73106618	+	3'UTR	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:73106618G>T	ENST00000064780.2	+	0	1636				RP11-809N8.2_ENST00000544674.1_RNA|RELT_ENST00000393580.2_3'UTR	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ctgcagctgggactgtgagga	0.647																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AF319553	CCDS8222.1	11q13.2	2013-05-22	2007-06-14	2007-06-14		ENSG00000054967		"""Tumor necrosis factor receptor superfamily"""	13764	protein-coding gene	gene with protein product		611211	"""tumor necrosis factor receptor superfamily, member 19-like"""	TNFRSF19L		11313261, 16547002, 16950202, 16389068	Standard	NM_032871		Approved	FLJ14993	uc001otv.3	Q969Z4		ENST00000064780.2:c.*82G>T	11.37:g.73106618G>T			Q86V34|Q96JU1|Q9BUX7	RNA	SNP	-	NULL	ENST00000064780.2	37	NULL	CCDS8222.1	11																																																																																			RP11-809N8.2	-	-		0.647	RELT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000256928	Clone_based_vega_gene	protein_coding	OTTHUMT00000397380.2	G	NM_032871		73106618	-1	no_errors	ENST00000544674	ensembl	human	known	70_37	rna	SNP	0.120	T
RP11-476M19.2	0	genome.wustl.edu	37	12	3480491	3480491	+	lincRNA	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:3480491C>G	ENST00000542449.1	+	0	494																											TGCTAATCCTCTCTCATCTCC	0.428																																																	0																																												0																															12.37:g.3480491C>G				RNA	SNP	-	NULL	ENST00000542449.1	37	NULL		12																																																																																			RP11-476M19.2	-	-		0.428	RP11-476M19.2-001	KNOWN	basic	lincRNA	ENSG00000257048	Clone_based_vega_gene	lincRNA	OTTHUMT00000398635.1	C			3480491	+1	no_errors	ENST00000542449	ensembl	human	known	70_37	rna	SNP	0.004	G
KRT81	3887	genome.wustl.edu	37	12	52679869	52679869	+	3'UTR	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:52679869C>A	ENST00000327741.5	-	0	1756				KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81							extracellular space (GO:0005615)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTGGGGTGGCAGAGCCCAGA	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	0			X81420	CCDS31805.1	12q13	2013-01-16	2006-07-17	2006-07-17	ENSG00000205426	ENSG00000205426		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6458	protein-coding gene	gene with protein product	"""hard keratin type II 1"""	602153	"""keratin, hair, basic, 1"""	KRTHB1		7556444, 16831889	Standard	NM_002281		Approved	Hb-1	uc001sab.3	Q14533	OTTHUMG00000167574	ENST00000327741.5:c.*170G>T	12.37:g.52679869C>A			Q14846|Q16274|Q17R48|Q8WU52|Q9BR74	RNA	SNP	-	NULL	ENST00000327741.5	37	NULL	CCDS31805.1	12																																																																																			RP11-259K21.3	-	-		0.602	KRT81-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257540	Clone_based_vega_gene	protein_coding	OTTHUMT00000395128.2	C	NM_002281		52679869	-1	no_errors	ENST00000552398	ensembl	human	putative	70_37	rna	SNP	0.008	A
KCNC2	3747	genome.wustl.edu	37	12	75435999	75435999	+	3'UTR	SNP	A	A	T	rs201871666|rs7969026	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:75435999A>T	ENST00000549446.1	-	0	3483				RP11-81K13.1_ENST00000550049.1_RNA|KCNC2_ENST00000298972.1_Intron|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000548513.1_Intron|RP11-81K13.1_ENST00000549762.1_RNA|KCNC2_ENST00000341669.3_Intron|KCNC2_ENST00000550433.1_Intron|RP11-81K13.1_ENST00000547040.1_RNA	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2						action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	TTTTTTTTTTAAAGAGTCTAG	0.388													A|||	840	0.167732	0.1483	0.1657	5008	,	,		12841	0.2024		0.0885	False		,,,				2504	0.2413																0																																										SO:0001624	3_prime_UTR_variant	0			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.*886T>A	12.37:g.75435999A>T			B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	RNA	SNP	-	NULL	ENST00000549446.1	37	NULL	CCDS9007.1	12																																																																																			RP11-81K13.1	-	-		0.388	KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000257434	Clone_based_vega_gene	protein_coding	OTTHUMT00000405581.2	A	NM_153748		75435999	+1	no_errors	ENST00000547040	ensembl	human	putative	70_37	rna	SNP	0.000	T
RP11-202G11.2	0	genome.wustl.edu	37	12	93485177	93485177	+	lincRNA	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:93485177C>T	ENST00000551928.1	+	0	169				RP11-511B23.2_ENST00000549930.1_RNA|RP11-511B23.2_ENST00000550324.1_RNA																							GAGGAATTTGCAGGAAGTTTA	0.373																																																	0																																												0																															12.37:g.93485177C>T				RNA	SNP	-	NULL	ENST00000551928.1	37	NULL		12																																																																																			RP11-202G11.2	-	-		0.373	RP11-202G11.2-001	KNOWN	basic	lincRNA	ENSG00000257746	Clone_based_vega_gene	lincRNA	OTTHUMT00000407315.1	C			93485177	+1	no_errors	ENST00000551928	ensembl	human	known	70_37	rna	SNP	0.000	T
CPNE2	221184	genome.wustl.edu	37	16	57125933	57125933	+	5'Flank	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:57125933C>T	ENST00000535318.2	+	0	0				CPNE2_ENST00000290776.8_5'Flank|RP11-407G23.1_ENST00000565829.1_RNA|CPNE2_ENST00000537605.1_5'Flank			Q96FN4	CPNE2_HUMAN	copine II							extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TTTCCAATCTCTGGCGGCAAG	0.463																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS10774.1	16q13	2008-02-05			ENSG00000140848	ENSG00000140848			2315	protein-coding gene	gene with protein product		604206				9430674	Standard	NM_152727		Approved	CPN2	uc002eks.2	Q96FN4	OTTHUMG00000133471		16.37:g.57125933C>T	Exception_encountered		Q68D19|Q719H8|Q86XP9	RNA	SNP	-	NULL	ENST00000535318.2	37	NULL	CCDS10774.1	16																																																																																			RP11-407G23.1	-	-		0.463	CPNE2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ENSG00000260148	Clone_based_vega_gene	protein_coding	OTTHUMT00000432986.2	C	NM_152727		57125933	-1	no_errors	ENST00000565829	ensembl	human	known	70_37	rna	SNP	0.490	T
HCG11	493812	genome.wustl.edu	37	6	26527477	26527477	+	lincRNA	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:26527477A>G	ENST00000411553.1	+	0	9464				CTA-14H9.5_ENST00000567732.1_lincRNA	NR_026790.1				HLA complex group 11 (non-protein coding)																		AGGACCTAGAAGAACATGTCA	0.343																																																	0																																												0			AK024111		6p22.2	2012-10-16	2012-04-19		ENSG00000228223	ENSG00000228223		"""Long non-coding RNAs"""	17707	non-coding RNA	RNA, long non-coding			"""HLA complex group 11"""				Standard	NR_026790		Approved	bK14H9.3, FLJ14049, FLJ30357	uc011dkp.3		OTTHUMG00000014456		6.37:g.26527477A>G				RNA	SNP	-	NULL	ENST00000411553.1	37	NULL		6																																																																																			CTA-14H9.5	-	-		0.343	HCG11-001	KNOWN	basic	lincRNA	ENSG00000261353	Clone_based_vega_gene	lincRNA	OTTHUMT00000040121.1	A			26527477	+1	no_errors	ENST00000567732	ensembl	human	known	70_37	rna	SNP	0.126	G
RP11-527H14.4	0	genome.wustl.edu	37	18	14915534	14915534	+	lincRNA	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr18:14915534C>T	ENST00000584414.1	+	0	462																											GAGGTGAGTGCCTAGGCATTG	0.488																																																	0																																												0																															18.37:g.14915534C>T				RNA	SNP	-	NULL	ENST00000584414.1	37	NULL		18																																																																																			RP11-527H14.4	-	-		0.488	RP11-527H14.4-001	KNOWN	basic	lincRNA	ENSG00000263618	Clone_based_vega_gene	lincRNA	OTTHUMT00000443401.1	C			14915534	+1	no_errors	ENST00000584414	ensembl	human	known	70_37	rna	SNP	0.003	T
AL136123.1	0	genome.wustl.edu	37	13	50526720	50526721	+	RNA	INS	-	-	AT			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:50526720_50526721insAT	ENST00000579259.1	-	0	29_30																											cacacacacacatatataaata	0.441																																																	0																																												0																															13.37:g.50526725_50526726dupAT				RNA	INS	-	NULL	ENST00000579259.1	37	NULL		13																																																																																			AL136123.1	-	-		0.441	AL136123.1-201	NOVEL	basic	miRNA	ENSG00000264526	Clone_based_ensembl_gene	miRNA		-			50526721	-1	no_errors	ENST00000579259	ensembl	human	novel	70_37	rna	INS	0.171:0.169	AT
FAM84A	151354	genome.wustl.edu	37	2	14775374	14775374	+	3'UTR	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:14775374G>A	ENST00000295092.2	+	0	1559				FAM84A_ENST00000497769.1_3'UTR|AC011897.1_ENST00000581929.1_Silent_p.K16K|FAM84A_ENST00000331243.4_3'UTR	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A											endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			CTTCTCAAAAGGGACCATCAC	0.622																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.*392G>A	2.37:g.14775374G>A			A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Silent	SNP	NULL	p.K16	ENST00000295092.2	37	c.48	CCDS1684.1	2																																																																																			AC011897.1	-	NULL		0.622	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000265629	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000239308.2	G	NM_145175		14775374	+1	no_errors	ENST00000581929	ensembl	human	known	70_37	silent	SNP	0.001	A
Unknown	0	genome.wustl.edu	37	19	14480915	14480916	+	IGR	INS	-	-	A	rs199544028		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:14480915_14480916insA								CTC-548K16.2 (6113 upstream) : CD97 (10396 downstream)																							GCTTTTCCTTTAAAAAAAAAAA	0.386																																																	0																																										SO:0001628	intergenic_variant	0																															19.37:g.14480926_14480926dupA				RNA	INS	-	NULL		37	NULL		19																																																																																			CTC-548K16.2	-	-	0	0.386					ENSG00000266913	Clone_based_vega_gene			-			14480916	-1	no_errors	ENST00000588438	ensembl	human	known	70_37	rna	INS	0.042:0.009	A
MRPL4	51073	genome.wustl.edu	37	19	10370889	10370889	+	IGR	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:10370889C>A	ENST00000253099.6	+	0	1455				CTD-2369P2.4_ENST00000587088.1_RNA|CTD-2369P2.5_ENST00000592893.1_RNA	NM_015956.2|NM_146388.1	NP_057040.2|NP_666500.1	Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4						translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TTCACTTACCCGGTGAGTCAG	0.582																																																	0																																										SO:0001628	intergenic_variant	0			AB049635	CCDS12230.1, CCDS42499.1	19p13.2	2012-11-14			ENSG00000105364	ENSG00000105364		"""Mitochondrial ribosomal proteins / large subunits"""	14276	protein-coding gene	gene with protein product		611823					Standard	NM_015956		Approved	CGI-28	uc002mnn.3	Q9BYD3	OTTHUMG00000180400		19.37:g.10370889C>A			A6NNV7|Q9BW07|Q9H4N2|Q9Y317	RNA	SNP	-	NULL	ENST00000253099.6	37	NULL	CCDS12230.1	19																																																																																			CTD-2369P2.5	-	-		0.582	MRPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266978	Clone_based_vega_gene	protein_coding	OTTHUMT00000451197.1	C			10370889	-1	no_errors	ENST00000592893	ensembl	human	known	70_37	rna	SNP	0.000	A
RP11-794M8.1	0	genome.wustl.edu	37	18	13203919	13203919	+	RNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr18:13203919C>A	ENST00000586278.1	-	0	1705																											cacctgccacctgccaccatg	0.517																																																	0																																												0																															18.37:g.13203919C>A				RNA	SNP	-	NULL	ENST00000586278.1	37	NULL		18																																																																																			RP11-794M8.1	-	-		0.517	RP11-794M8.1-001	KNOWN	basic	antisense	ENSG00000267239	Clone_based_vega_gene	antisense	OTTHUMT00000458422.1	C			13203919	-1	no_errors	ENST00000586278	ensembl	human	known	70_37	rna	SNP	0.005	A
ENTPD2	954	genome.wustl.edu	37	9	139942726	139942726	+	3'UTR	SNP	G	G	T	rs371788098		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:139942726G>T	ENST00000355097.2	-	0	1918				ENTPD2_ENST00000460614.1_5'UTR|NPDC1_ENST00000371601.4_5'Flank|NPDC1_ENST00000488145.1_5'Flank	NM_001246.3|NM_203468.2	NP_001237.1|NP_982293.1	Q9Y5L3	ENTP2_HUMAN	ectonucleoside triphosphate diphosphohydrolase 2						G-protein coupled receptor signaling pathway (GO:0007186)|platelet activation (GO:0030168)|purine ribonucleoside diphosphate catabolic process (GO:0009181)	basal lamina (GO:0005605)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(3)	12	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GCCCTGAGGAGGAGGAGGAGG	0.627																																																	0																																										SO:0001624	3_prime_UTR_variant	954			U91510	CCDS7025.1, CCDS7026.1	9q34	2008-07-21			ENSG00000054179	ENSG00000054179			3364	protein-coding gene	gene with protein product	"""CD39-like-1"", ""ecto-ATPase"""	602012		CD39L1		9271669	Standard	NM_203468		Approved	NTPDase-2	uc004ckw.2	Q9Y5L3	OTTHUMG00000020953	ENST00000355097.2:c.*383C>A	9.37:g.139942726G>T			O15464|Q5SPY6|Q5SPY7	RNA	SNP	-	NULL	ENST00000355097.2	37	NULL	CCDS7026.1	9																																																																																			ENTPD2	-	-		0.627	ENTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTPD2	HGNC	protein_coding	OTTHUMT00000055169.1	G	NM_203468		139942726	-1	no_errors	ENST00000460614	ensembl	human	known	70_37	rna	SNP	0.000	T
EOGT	285203	genome.wustl.edu	37	3	69057628	69057628	+	Missense_Mutation	SNP	G	G	T	rs142739966		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:69057628G>T	ENST00000383701.3	-	5	1004	c.262C>A	c.(262-264)Cca>Aca	p.P88T	EOGT_ENST00000540764.1_5'UTR|EOGT_ENST00000295571.5_Missense_Mutation_p.P88T|EOGT_ENST00000540955.1_5'UTR	NM_001278689.1	NP_001265618.1	Q5NDL2	EOGT_HUMAN	EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase	88					protein O-linked glycosylation (GO:0006493)	endoplasmic reticulum (GO:0005783)	protein N-acetylglucosaminyltransferase activity (GO:0016262)										CTGAACTCTGGTTTGCAGGAT	0.398																																																	0								G	THR/PRO	0,4406		0,0,2203	172.0	164.0	167.0		262	2.6	0.9	3	dbSNP_134	167	3,8597	3.0+/-9.4	0,3,4297	no	missense	C3orf64	NM_173654.1	38	0,3,6500	TT,TG,GG		0.0349,0.0,0.0231	benign	88/444	69057628	3,13003	2203	4300	6503	SO:0001583	missense	285203			AK091089	CCDS2908.1, CCDS63684.1	3p14.1	2013-10-11	2012-05-21	2012-05-21	ENSG00000163378	ENSG00000163378	2.4.1.255		28526	protein-coding gene	gene with protein product	"""AER61 glycosyltransferase"""	614789	"""chromosome 3 open reading frame 64"""	C3orf64		22310717	Standard	NM_001278689		Approved	AER61, FLJ33770	uc003dnk.3	Q5NDL2	OTTHUMG00000156279	ENST00000383701.3:c.262C>A	3.37:g.69057628G>T	ENSP00000373206:p.Pro88Thr		A8K2U1|B4DFH5|L7X1M5|Q6MZY0|Q6P985|Q6ZTV0	Missense_Mutation	SNP	pfam_Glycosyltransferase_AER61	p.P88T	ENST00000383701.3	37	c.262		3	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828762	0.32329	0.0	3.49E-4	ENSG00000163378	ENST00000383701;ENST00000295571;ENST00000424374;ENST00000456376	.	.	.	5.45	2.63	0.31362	.	0.485095	0.25078	N	0.033311	T	0.46405	0.1391	L	0.54323	1.7	0.80722	D	1	B;B	0.30686	0.072;0.29	B;B	0.29077	0.075;0.098	T	0.34800	-0.9814	9	0.36615	T	0.2	.	5.9248	0.19104	0.2245:0.1505:0.625:0.0	.	88;88	Q5NDL2;Q5NDL2-3	AER61_HUMAN;.	T	88	.	ENSP00000295571:P88T	P	-	1	0	C3orf64	69140318	0.985000	0.35326	0.878000	0.34440	0.894000	0.52154	1.621000	0.36986	0.767000	0.33267	0.563000	0.77884	CCA	EOGT	-	NULL		0.398	EOGT-002	KNOWN	basic|appris_principal	protein_coding	EOGT	HGNC	protein_coding	OTTHUMT00000343722.1	G	NM_173654		69057628	-1	no_errors	ENST00000383701	ensembl	human	known	70_37	missense	SNP	0.720	T
ERBB3	2065	genome.wustl.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A
ERBB3	2065	genome.wustl.edu	37	12	56478854	56478854	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:56478854G>A	ENST00000267101.3	+	3	750	c.310G>A	c.(310-312)Gtg>Atg	p.V104M	ERBB3_ENST00000411731.2_Missense_Mutation_p.V104M|ERBB3_ENST00000415288.2_Missense_Mutation_p.V45M|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	104			V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)	p.V104M(7)|p.V104L(2)		central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CAACCTCCGCGTGGTGCGAGG	0.517																																																	9	Substitution - Missense(9)	large_intestine(5)|endometrium(2)|ovary(1)|NS(1)											186.0	159.0	168.0					12																	56478854		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.310G>A	12.37:g.56478854G>A	ENSP00000267101:p.Val104Met		A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V104M	ENST00000267101.3	37	c.310	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	16.37	3.103691	0.56291	.	.	ENSG00000065361	ENST00000549282;ENST00000549061;ENST00000267101;ENST00000394099;ENST00000411731;ENST00000549672;ENST00000415288	T;T;T;T;T;T	0.81330	-1.48;-1.48;-1.48;-1.48;-1.48;-1.48	5.82	4.93	0.64822	EGF receptor, L domain (1);	0.096412	0.43416	D	0.000573	D	0.87438	0.6177	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.59221	0.698;0.854	D	0.88227	0.2901	10	0.59425	D	0.04	.	10.6531	0.45659	0.1547:0.0:0.8453:0.0	.	104;104	P21860;P21860-2	ERBB3_HUMAN;.	M	104;45;104;104;104;45;45	ENSP00000448636:V104M;ENSP00000449138:V45M;ENSP00000267101:V104M;ENSP00000415753:V104M;ENSP00000449713:V45M;ENSP00000408340:V45M	ENSP00000267101:V104M	V	+	1	0	ERBB3	54765121	1.000000	0.71417	0.892000	0.35008	0.052000	0.14988	4.300000	0.59079	1.450000	0.47717	0.655000	0.94253	GTG	ERBB3	-	pfam_EGF_rcpt_L,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.517	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56478854	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	0.994	A
ESPN	83715	genome.wustl.edu	37	1	6500365	6500365	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:6500365C>T	ENST00000377828.1	+	3	708	c.540C>T	c.(538-540)tgC>tgT	p.C180C	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	180					locomotory behavior (GO:0007626)|negative regulation of cytoskeleton organization (GO:0051494)|parallel actin filament bundle assembly (GO:0030046)|positive regulation of filopodium assembly (GO:0051491)|sensory perception of sound (GO:0007605)	brush border (GO:0005903)|cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|microvillus (GO:0005902)|stereocilium bundle tip (GO:0032426)	actin filament binding (GO:0051015)|SH3 domain binding (GO:0017124)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACCTGGCGTGCCAGGAGGGCC	0.706																																																	0													9.0	10.0	10.0					1																	6500365		2149	4230	6379	SO:0001819	synonymous_variant	83715			AF134401	CCDS70.1	1p36.31	2013-01-10			ENSG00000187017	ENSG00000187017		"""Ankyrin repeat domain containing"""	13281	protein-coding gene	gene with protein product		606351	"""deafness, autosomal recessive 36"""	DFNB36		10975527, 15286153	Standard	NM_031475		Approved		uc001amy.3	B1AK53	OTTHUMG00000000753	ENST00000377828.1:c.540C>T	1.37:g.6500365C>T			Q6XYB2|Q9H0A2|Q9Y329	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_WH2_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_WH2_dom	p.C180	ENST00000377828.1	37	c.540	CCDS70.1	1																																																																																			ESPN	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.706	ESPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESPN	HGNC	protein_coding	OTTHUMT00000001887.3	C	NM_031475		6500365	+1	no_errors	ENST00000377828	ensembl	human	known	70_37	silent	SNP	1.000	T
ALG1L2	644974	genome.wustl.edu	37	3	129818006	129818006	+	RNA	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:129818006C>T	ENST00000507643.1	+	0	815				AC083906.2_ENST00000578837.1_RNA			C9J202	AG1L2_HUMAN	ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase-like 2								transferase activity, transferring glycosyl groups (GO:0016757)										CCAAACATTCCAGTCCAATGA	0.428																																																	0																																												729375			BC127756		3q22.1	2013-02-22	2013-02-22		ENSG00000251287	ENSG00000251287		"""Glycosyltransferase group 1 domain containing"""	37258	other	unknown			"""asparagine-linked glycosylation 1-like 2"""				Standard	NM_001136152		Approved		uc011bld.2	C9J202	OTTHUMG00000159782		3.37:g.129818006C>T				RNA	SNP	-	NULL	ENST00000507643.1	37	NULL		3																																																																																			FAM86HP	-	-		0.428	ALG1L2-002	KNOWN	basic	processed_transcript	FAM86HP	HGNC	pseudogene	OTTHUMT00000357289.1	C	NM_001136152		129818006	-1	no_errors	ENST00000511564	ensembl	human	putative	70_37	rna	SNP	0.006	T
FERMT3	83706	genome.wustl.edu	37	11	63990963	63990963	+	Nonstop_Mutation	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:63990963G>C	ENST00000279227.5	+	15	2098	c.2003G>C	c.(2002-2004)tGa>tCa	p.*668S	FERMT3_ENST00000345728.5_Nonstop_Mutation_p.*664S|NUDT22_ENST00000441250.2_5'Flank|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000540472.1_5'Flank	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	0					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGGCCTTCTGAGGGCTGTCT	0.667																																																	0													17.0	17.0	17.0					11																	63990963		2200	4296	6496	SO:0001578	stop_lost	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.2003G>C	11.37:g.63990963G>C	ENSP00000279227:p.*668Serext*44		Q8IUA1|Q8N207|Q9BT48	Nonstop_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.*668S	ENST00000279227.5	37	c.2003	CCDS8060.1	11	.	.	.	.	.	.	.	.	.	.	G	3.150	-0.174433	0.06421	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	.	.	.	4.61	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9791	0.64291	0.1547:0.0:0.8453:0.0	.	.	.	.	S	664;668;185	.	.	X	+	2	2	FERMT3	63747539	0.996000	0.38824	0.581000	0.28614	0.316000	0.28119	0.639000	0.24690	-0.290000	0.09025	-0.459000	0.05422	TGA	FERMT3	-	NULL		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	G	NM_031471		63990963	+1	no_errors	ENST00000279227	ensembl	human	known	70_37	nonstop	SNP	0.995	C
FERMT3	83706	genome.wustl.edu	37	11	63990963	63990963	+	Nonstop_Mutation	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:63990963G>C	ENST00000279227.5	+	15	2098	c.2003G>C	c.(2002-2004)tGa>tCa	p.*668S	FERMT3_ENST00000345728.5_Nonstop_Mutation_p.*664S|NUDT22_ENST00000441250.2_5'Flank|NUDT22_ENST00000279206.3_5'Flank|TRPT1_ENST00000540472.1_5'Flank	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	0					integrin activation (GO:0033622)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|platelet aggregation (GO:0070527)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cell projection (GO:0042995)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|podosome (GO:0002102)	integrin binding (GO:0005178)			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GAGGCCTTCTGAGGGCTGTCT	0.667																																																	0													17.0	17.0	17.0					11																	63990963		2200	4296	6496	SO:0001578	stop_lost	83706			L25343	CCDS8059.1, CCDS8060.1	11q13.1	2014-09-17	2010-06-24		ENSG00000149781	ENSG00000149781		"""Fermitins"", ""Pleckstrin homology (PH) domain containing"""	23151	protein-coding gene	gene with protein product	"""kindlin-3"""	607901	"""fermitin family homolog 3 (Drosophila)"""				Standard	NM_178443		Approved	URP2, KIND3, MIG2B, MGC10966, MIG-2, UNC112C	uc001nym.2	Q86UX7	OTTHUMG00000167790	ENST00000279227.5:c.2003G>C	11.37:g.63990963G>C	ENSP00000279227:p.*668Serext*44		Q8IUA1|Q8N207|Q9BT48	Nonstop_Mutation	SNP	pfam_FERM_central,pfam_Pleckstrin_homology,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.*668S	ENST00000279227.5	37	c.2003	CCDS8060.1	11	.	.	.	.	.	.	.	.	.	.	G	3.150	-0.174433	0.06421	.	.	ENSG00000149781	ENST00000345728;ENST00000279227;ENST00000545896	.	.	.	4.61	-1.51	0.08664	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.9791	0.64291	0.1547:0.0:0.8453:0.0	.	.	.	.	S	664;668;185	.	.	X	+	2	2	FERMT3	63747539	0.996000	0.38824	0.581000	0.28614	0.316000	0.28119	0.639000	0.24690	-0.290000	0.09025	-0.459000	0.05422	TGA	FERMT3	-	NULL		0.667	FERMT3-001	KNOWN	basic|CCDS	protein_coding	FERMT3	HGNC	protein_coding	OTTHUMT00000396297.1	G	NM_031471		63990963	+1	no_errors	ENST00000279227	ensembl	human	known	70_37	nonstop	SNP	0.995	C
FHOD1	29109	genome.wustl.edu	37	16	67271211	67271211	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:67271211C>T	ENST00000258201.4	-	9	1171	c.924G>A	c.(922-924)gcG>gcA	p.A308A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	308	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.			EA -> DT (in Ref. 1; AAD39906 and 3; AAO38757). {ECO:0000305}.	positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCTGGACCAGCGCTTCCATGC	0.662																																																	0													43.0	45.0	45.0					16																	67271211		2198	4300	6498	SO:0001819	synonymous_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.924G>A	16.37:g.67271211C>T			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A308	ENST00000258201.4	37	c.924	CCDS10834.1	16																																																																																			FHOD1	-	superfamily_ARM-type_fold		0.662	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67271211	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	silent	SNP	0.000	T
FHOD1	29109	genome.wustl.edu	37	16	67271211	67271211	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:67271211C>T	ENST00000258201.4	-	9	1171	c.924G>A	c.(922-924)gcG>gcA	p.A308A		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	308	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.			EA -> DT (in Ref. 1; AAD39906 and 3; AAO38757). {ECO:0000305}.	positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GCTGGACCAGCGCTTCCATGC	0.662																																																	0													43.0	45.0	45.0					16																	67271211		2198	4300	6498	SO:0001819	synonymous_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.924G>A	16.37:g.67271211C>T			Q59F76|Q6Y1F2|Q76MS8|Q8N521	Silent	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.A308	ENST00000258201.4	37	c.924	CCDS10834.1	16																																																																																			FHOD1	-	superfamily_ARM-type_fold		0.662	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHOD1	HGNC	protein_coding	OTTHUMT00000268844.2	C			67271211	-1	no_errors	ENST00000258201	ensembl	human	known	70_37	silent	SNP	0.000	T
FHOD3	80206	genome.wustl.edu	37	18	34339099	34339099	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr18:34339099G>T	ENST00000359247.4	+	22	3849				FHOD3_ENST00000591635.1_Intron|FHOD3_ENST00000257209.4_Intron|FHOD3_ENST00000445677.1_Intron|FHOD3_ENST00000590592.1_Missense_Mutation_p.V1482F|FHOD3_ENST00000592128.1_Intron	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3						actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGGAGGAAGTTGAGGTATG	0.448																																																	0																																										SO:0001627	intron_variant	80206			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.3850-1472G>T	18.37:g.34339099G>T			A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.V1482F	ENST00000359247.4	37	c.4444		18																																																																																			FHOD3	-	smart_Actin-bd_FH2/DRF_autoreg		0.448	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1	G	XM_371114		34339099	+1	no_errors	ENST00000590592	ensembl	human	putative	70_37	missense	SNP	0.354	T
FICD	11153	genome.wustl.edu	37	12	108912198	108912198	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:108912198C>A	ENST00000552695.1	+	3	558	c.323C>A	c.(322-324)gCt>gAt	p.A108D	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	108					negative regulation of Rho GTPase activity (GO:0034259)|protein adenylylation (GO:0018117)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|protein adenylyltransferase activity (GO:0070733)			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						GAAGCCAGAGCTGCCCTGAAC	0.617																																																	0													49.0	47.0	47.0					12																	108912198		2203	4300	6503	SO:0001583	missense	11153			AF049611	CCDS9116.1	12q24.1	2007-12-05				ENSG00000198855			18416	protein-coding gene	gene with protein product	"""huntingtin interacting protein 13"", ""fic S-phase protein cell division homolog (E. coli)"""					9700202	Standard	NM_007076		Approved	HYPE, HIP13	uc001tmx.1	Q9BVA6		ENST00000552695.1:c.323C>A	12.37:g.108912198C>A	ENSP00000446479:p.Ala108Asp		O75406	Missense_Mutation	SNP	pfam_Fido,superfamily_Fido,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A108D	ENST00000552695.1	37	c.323	CCDS9116.1	12	.	.	.	.	.	.	.	.	.	.	C	15.04	2.716272	0.48622	.	.	ENSG00000198855	ENST00000552695	T	0.79247	-1.25	5.11	5.11	0.69529	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.048807	0.85682	D	0.000000	D	0.84506	0.5487	M	0.75777	2.31	0.80722	D	1	D	0.54601	0.967	P	0.52514	0.701	D	0.86433	0.1762	10	0.62326	D	0.03	-0.6512	18.9183	0.92515	0.0:1.0:0.0:0.0	.	108	Q9BVA6	FICD_HUMAN	D	108	ENSP00000446479:A108D	ENSP00000446479:A108D	A	+	2	0	FICD	107436328	1.000000	0.71417	0.890000	0.34922	0.080000	0.17528	4.840000	0.62817	2.539000	0.85634	0.655000	0.94253	GCT	FICD	-	pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.617	FICD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FICD	HGNC	protein_coding	OTTHUMT00000404842.1	C	NM_007076		108912198	+1	no_errors	ENST00000552695	ensembl	human	known	70_37	missense	SNP	0.999	A
FLG	2312	genome.wustl.edu	37	1	152284693	152284693	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:152284693C>T	ENST00000368799.1	-	3	2704	c.2669G>A	c.(2668-2670)aGa>aAa	p.R890K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	890	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R890K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGCACTTCTGGATCCTGA	0.552									Ichthyosis																																								1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											371.0	362.0	365.0					1																	152284693		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2669G>A	1.37:g.152284693C>T	ENSP00000357789:p.Arg890Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R890K	ENST00000368799.1	37	c.2669	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	5.859	0.342584	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.43	0.19	0.15125	.	.	.	.	.	T	0.00695	0.0023	M	0.78916	2.43	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.46925	-0.9156	9	0.17832	T	0.49	.	7.847	0.29431	0.0:0.4584:0.5416:0.0	.	890	P20930	FILA_HUMAN	K	890	ENSP00000357789:R890K	ENSP00000357789:R890K	R	-	2	0	FLG	150551317	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.497000	0.02289	-0.229000	0.09854	-0.510000	0.04470	AGA	FLG	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152284693	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FLG	2312	genome.wustl.edu	37	1	152284693	152284693	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:152284693C>T	ENST00000368799.1	-	3	2704	c.2669G>A	c.(2668-2670)aGa>aAa	p.R890K	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	890	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R890K(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTTGCACTTCTGGATCCTGA	0.552									Ichthyosis																																								1	Substitution - Missense(1)	upper_aerodigestive_tract(1)											371.0	362.0	365.0					1																	152284693		2203	4300	6503	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2669G>A	1.37:g.152284693C>T	ENSP00000357789:p.Arg890Lys		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin	p.R890K	ENST00000368799.1	37	c.2669	CCDS30860.1	1	.	.	.	.	.	.	.	.	.	.	-	5.859	0.342584	0.11069	.	.	ENSG00000143631	ENST00000368799	T	0.01647	4.71	2.43	0.19	0.15125	.	.	.	.	.	T	0.00695	0.0023	M	0.78916	2.43	0.09310	N	1	P	0.38110	0.618	B	0.25759	0.063	T	0.46925	-0.9156	9	0.17832	T	0.49	.	7.847	0.29431	0.0:0.4584:0.5416:0.0	.	890	P20930	FILA_HUMAN	K	890	ENSP00000357789:R890K	ENSP00000357789:R890K	R	-	2	0	FLG	150551317	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.497000	0.02289	-0.229000	0.09854	-0.510000	0.04470	AGA	FLG	-	NULL		0.552	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLG	HGNC	protein_coding	OTTHUMT00000033742.1	C	NM_002016		152284693	-1	no_errors	ENST00000368799	ensembl	human	known	70_37	missense	SNP	0.000	T
FRAS1	80144	genome.wustl.edu	37	4	79396683	79396683	+	Nonsense_Mutation	SNP	G	G	T	rs368306704		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:79396683G>T	ENST00000264895.6	+	54	8214	c.7774G>T	c.(7774-7776)Gag>Tag	p.E2592*		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser extracellular matrix complex subunit 1	2592	Calx-beta 1.				cell communication (GO:0007154)|embryonic limb morphogenesis (GO:0030326)|metanephros morphogenesis (GO:0003338)|morphogenesis of an epithelium (GO:0002009)|palate development (GO:0060021)|protein transport (GO:0015031)|skin development (GO:0043588)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sublamina densa (GO:0061618)	metal ion binding (GO:0046872)	p.E2592K(1)|p.E2593K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTCGCACCGAGCAAGGCAC	0.587																																																	2	Substitution - Missense(2)	endometrium(2)											103.0	114.0	110.0					4																	79396683		2099	4226	6325	SO:0001587	stop_gained	80144			AB040933	CCDS54772.1	4q21.21	2014-06-25	2014-06-25		ENSG00000138759	ENSG00000138759			19185	protein-coding gene	gene with protein product		607830	"""Fraser syndrome 1"""			12766769, 3118036	Standard	NM_025074		Approved	FLJ22031, FLJ14927, KIAA1500	uc003hlb.2	Q86XX4	OTTHUMG00000160856	ENST00000264895.6:c.7774G>T	4.37:g.79396683G>T	ENSP00000264895:p.Glu2592*		A2RRR8|Q86UZ4|Q8N3U9|Q8NAU7|Q96JW7|Q9H6N9|Q9P228	Nonsense_Mutation	SNP	pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C	p.E2592*	ENST00000264895.6	37	c.7774	CCDS54771.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.6|27.6	4.844331|4.844331	0.91197|0.91197	.|.	.|.	ENSG00000138759|ENSG00000138759	ENST00000264895|ENST00000512123	.|.	.|.	.|.	5.44|5.44	0.877|0.877	0.19145|0.19145	.|.	0.360371|.	0.30686|.	N|.	0.009093|.	.|T	.|0.57829	.|0.2080	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.50825	.|-0.8782	.|4	0.29301|.	T|.	0.29|.	.|.	9.7118|9.7118	0.40249|0.40249	0.3375:0.0:0.6625:0.0|0.3375:0.0:0.6625:0.0	.|.	.|.	.|.	.|.	X|L	2592|820	.|.	ENSP00000264895:E2592X|.	E|R	+|+	1|2	0|0	FRAS1|FRAS1	79615707|79615707	0.999000|0.999000	0.42202|0.42202	0.011000|0.011000	0.14972|0.14972	0.058000|0.058000	0.15608|0.15608	2.715000|2.715000	0.47210|0.47210	0.046000|0.046000	0.15833|0.15833	-0.967000|-0.967000	0.02615|0.02615	GAG|CGA	FRAS1	-	pfam_Calx_beta,smart_Calx_beta		0.587	FRAS1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FRAS1	HGNC	protein_coding		G			79396683	+1	no_errors	ENST00000264895	ensembl	human	known	70_37	nonsense	SNP	0.744	T
FTX	100302692	genome.wustl.edu	37	X	73511847	73511847	+	lincRNA	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:73511847C>T	ENST00000429124.1	-	0	174									FTX transcript, XIST regulator (non-protein coding)																		CCAAGTACAGCGACCCAAGAT	0.498																																																	0																																												100302692			AK057701		Xq13.2	2013-12-18	2011-04-21	2011-04-21	ENSG00000230590	ENSG00000230590		"""Long non-coding RNAs"", ""-"""	37190	non-coding RNA	RNA, long non-coding	"""five prime to XIST"""		"""non-protein coding RNA 182"", ""mir-374a-545 cluster host gene (non-protein coding)"""	NCRNA00182, MIR374AHG		12045143, 21254562, 21118898	Standard	NR_028379		Approved	LINC00182, FLJ33139	uc010nlq.1		OTTHUMG00000021850		X.37:g.73511847C>T				RNA	SNP	-	NULL	ENST00000429124.1	37	NULL		X																																																																																			FTX	-	-		0.498	FTX-001	KNOWN	basic	lincRNA	FTX	HGNC	lincRNA	OTTHUMT00000057255.2	C	NR_028379		73511847	-1	no_errors	ENST00000455395	ensembl	human	known	70_37	rna	SNP	0.000	T
GALNS	2588	genome.wustl.edu	37	16	88891256	88891256	+	Silent	SNP	G	G	A	rs376919708		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:88891256G>A	ENST00000268695.5	-	11	1249	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	GALNS_ENST00000542788.1_Silent_p.G312G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.G387G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCAGCGTGTCGCCACGGTAAT	0.617																																					GBM(129;1929 2344 25209 33204)												1	Substitution - coding silent(1)	kidney(1)						G		0,4396		0,0,2198	93.0	76.0	82.0		1161	-1.0	0.9	16		82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GALNS	NM_000512.4		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		387/523	88891256	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1161C>T	16.37:g.88891256G>A			Q86VK3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G387	ENST00000268695.5	37	c.1161	CCDS10970.1	16																																																																																			GALNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	G			88891256	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	silent	SNP	0.998	A
GALNS	2588	genome.wustl.edu	37	16	88891256	88891256	+	Silent	SNP	G	G	A	rs376919708		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:88891256G>A	ENST00000268695.5	-	11	1249	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	GALNS_ENST00000542788.1_Silent_p.G312G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfatase	387					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	metal ion binding (GO:0046872)|N-acetylgalactosamine-4-sulfatase activity (GO:0003943)|N-acetylgalactosamine-6-sulfatase activity (GO:0043890)|sulfuric ester hydrolase activity (GO:0008484)	p.G387G(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)		TCAGCGTGTCGCCACGGTAAT	0.617																																					GBM(129;1929 2344 25209 33204)												1	Substitution - coding silent(1)	kidney(1)						G		0,4396		0,0,2198	93.0	76.0	82.0		1161	-1.0	0.9	16		82	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GALNS	NM_000512.4		0,2,6496	AA,AG,GG		0.0233,0.0,0.0154		387/523	88891256	2,12994	2198	4300	6498	SO:0001819	synonymous_variant	2588			D17629	CCDS10970.1	16q24.3	2014-07-03	2014-07-03		ENSG00000141012	ENSG00000141012	3.1.6.4	"""Arylsulfatase family"""	4122	protein-coding gene	gene with protein product	"""Morquio syndrome"", ""mucopolysaccharidosis type IVA"""	612222	"""galactosamine (N-acetyl)-6-sulfate sulfatase"""			1755850	Standard	NM_000512		Approved	GAS, GALNAC6S	uc002fly.4	P34059	OTTHUMG00000137862	ENST00000268695.5:c.1161C>T	16.37:g.88891256G>A			Q86VK3	Silent	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.G387	ENST00000268695.5	37	c.1161	CCDS10970.1	16																																																																																			GALNS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.617	GALNS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNS	HGNC	protein_coding	OTTHUMT00000269543.1	G			88891256	-1	no_errors	ENST00000268695	ensembl	human	known	70_37	silent	SNP	0.998	A
GLI2	2736	genome.wustl.edu	37	2	121747944	121747944	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:121747944C>A	ENST00000452319.1	+	14	4514	c.4454C>A	c.(4453-4455)cCc>cAc	p.P1485H	GLI2_ENST00000314490.11_Intron|GLI2_ENST00000361492.4_Missense_Mutation_p.P1485H					GLI family zinc finger 2											NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCATCCAGCCCCAGCCCTTG	0.622																																																	0													70.0	76.0	74.0					2																	121747944		2203	4300	6503	SO:0001583	missense	2736				CCDS33283.1	2q14	2013-01-25	2009-03-05		ENSG00000074047	ENSG00000074047		"""Zinc fingers, C2H2-type"""	4318	protein-coding gene	gene with protein product	"""tax-responsive element-2 holding protein"", ""tax helper protein 1"", ""tax helper protein 2"""	165230	"""GLI-Kruppel family member GLI2"", ""glioma-associated oncogene family zinc finger 2"""			2850480, 9557682	Standard	NM_005270		Approved	THP2, HPE9, THP1	uc010flp.3	P10070	OTTHUMG00000153741	ENST00000452319.1:c.4454C>A	2.37:g.121747944C>A	ENSP00000390436:p.Pro1485His			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P1485H	ENST00000452319.1	37	c.4454	CCDS33283.1	2	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759005	0.49468	.	.	ENSG00000074047	ENST00000452319;ENST00000361492	T;T	0.15603	2.41;2.41	4.53	4.53	0.55603	.	0.349077	0.30051	N	0.010523	T	0.36026	0.0952	M	0.62723	1.935	0.80722	D	1	D;D	0.65815	0.991;0.995	P;P	0.58873	0.635;0.847	T	0.13656	-1.0501	10	0.56958	D	0.05	.	17.444	0.87573	0.0:1.0:0.0:0.0	.	1485;1140	P10070;P10070-2	GLI2_HUMAN;.	H	1485	ENSP00000390436:P1485H;ENSP00000354586:P1485H	ENSP00000354586:P1485H	P	+	2	0	GLI2	121464414	0.998000	0.40836	0.997000	0.53966	0.942000	0.58702	3.989000	0.56958	2.349000	0.79799	0.555000	0.69702	CCC	GLI2	-	NULL		0.622	GLI2-009	NOVEL	basic|appris_principal|CCDS	protein_coding	GLI2	HGNC	protein_coding	OTTHUMT00000332293.3	C	NM_005270		121747944	+1	no_errors	ENST00000361492	ensembl	human	known	70_37	missense	SNP	0.933	A
GALNT5	11227	genome.wustl.edu	37	2	158142597	158142597	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:158142597G>C	ENST00000259056.4	+	3	2177	c.1692G>C	c.(1690-1692)gaG>gaC	p.E564D		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	564	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCTCAAAGAGAGACATGGCT	0.343																																																	0													73.0	80.0	77.0					2																	158142597		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1692G>C	2.37:g.158142597G>C	ENSP00000259056:p.Glu564Asp		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E564D	ENST00000259056.4	37	c.1692	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182663	0.78677	.	.	ENSG00000136542	ENST00000259056	T	0.62639	0.01	5.87	-0.0943	0.13645	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.75085	2.285	0.35466	D	0.796935	P	0.45126	0.851	P	0.47573	0.55	T	0.71530	-0.4565	10	0.66056	D	0.02	.	9.5285	0.39180	0.6243:0.0:0.3757:0.0	.	564	Q7Z7M9	GALT5_HUMAN	D	564	ENSP00000259056:E564D	ENSP00000259056:E564D	E	+	3	2	GALNT5	157850843	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.761000	0.26489	0.118000	0.18165	0.655000	0.94253	GAG	GALNT5	-	pfam_Glyco_trans_2		0.343	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	G	NM_014568		158142597	+1	no_errors	ENST00000259056	ensembl	human	known	70_37	missense	SNP	0.999	C
GALNT5	11227	genome.wustl.edu	37	2	158142597	158142597	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:158142597G>C	ENST00000259056.4	+	3	2177	c.1692G>C	c.(1690-1692)gaG>gaC	p.E564D		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	polypeptide N-acetylgalactosaminyltransferase 5	564	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|glycosaminoglycan biosynthetic process (GO:0006024)|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)			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GCCTCAAAGAGAGACATGGCT	0.343																																																	0													73.0	80.0	77.0					2																	158142597		2203	4300	6503	SO:0001583	missense	11227			AJ245539	CCDS2203.1	2q24.1	2014-03-13	2014-03-13		ENSG00000136542	ENSG00000136542	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4127	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 5"""	615129	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)"""			10545594	Standard	NM_014568		Approved	GalNAc-T5	uc002tzg.3	Q7Z7M9	OTTHUMG00000131965	ENST00000259056.4:c.1692G>C	2.37:g.158142597G>C	ENSP00000259056:p.Glu564Asp		A5PKZ1|Q9UGK7|Q9UHL6	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.E564D	ENST00000259056.4	37	c.1692	CCDS2203.1	2	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182663	0.78677	.	.	ENSG00000136542	ENST00000259056	T	0.62639	0.01	5.87	-0.0943	0.13645	Glycosyl transferase, family 2 (1);	0.000000	0.85682	D	0.000000	T	0.64034	0.2562	M	0.75085	2.285	0.35466	D	0.796935	P	0.45126	0.851	P	0.47573	0.55	T	0.71530	-0.4565	10	0.66056	D	0.02	.	9.5285	0.39180	0.6243:0.0:0.3757:0.0	.	564	Q7Z7M9	GALT5_HUMAN	D	564	ENSP00000259056:E564D	ENSP00000259056:E564D	E	+	3	2	GALNT5	157850843	1.000000	0.71417	0.998000	0.56505	0.977000	0.68977	0.761000	0.26489	0.118000	0.18165	0.655000	0.94253	GAG	GALNT5	-	pfam_Glyco_trans_2		0.343	GALNT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT5	HGNC	protein_coding	OTTHUMT00000254925.2	G	NM_014568		158142597	+1	no_errors	ENST00000259056	ensembl	human	known	70_37	missense	SNP	0.999	C
GLT8D2	83468	genome.wustl.edu	37	12	104397008	104397008	+	Frame_Shift_Del	DEL	A	A	-			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:104397008delA	ENST00000360814.4	-	5	594	c.189delT	c.(187-189)ggtfs	p.G63fs	GLT8D2_ENST00000548660.1_Frame_Shift_Del_p.G63fs|GLT8D2_ENST00000546436.1_Frame_Shift_Del_p.G63fs	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	63						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						CCATAGTGGCACCCATCCTCC	0.473																																																	0													219.0	176.0	190.0					12																	104397008		2203	4300	6503	SO:0001589	frameshift_variant	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.189delT	12.37:g.104397008delA	ENSP00000354053:p.Gly63fs		Q96KA2	Frame_Shift_Del	DEL	pfam_Glyco_trans_8	p.A64fs	ENST00000360814.4	37	c.189	CCDS9096.1	12																																																																																			GLT8D2	-	pfam_Glyco_trans_8		0.473	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	A	NM_031302		104397008	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	frame_shift_del	DEL	0.027	-
GNRH2	2797	genome.wustl.edu	37	20	3025090	3025090	+	Silent	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:3025090C>G	ENST00000245983.2	+	2	81	c.30C>G	c.(28-30)ctC>ctG	p.L10L	GNRH2_ENST00000359987.1_Silent_p.L10L|GNRH2_ENST00000380346.2_Silent_p.L10L|GNRH2_ENST00000359100.2_Silent_p.L10L|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380347.2_Silent_p.L10L	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	10					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						GCCTCCTGCTCCTGCTGCTGC	0.617																																																	0													69.0	69.0	69.0					20																	3025090		2203	4300	6503	SO:0001819	synonymous_variant	2797			AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"""Endogenous ligands"""	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.30C>G	20.37:g.3025090C>G			Q14C68|Q14C69|Q9BYN9|Q9BYP0	Silent	SNP	pfam_GnRH	p.L10	ENST00000245983.2	37	c.30	CCDS13040.1	20																																																																																			GNRH2	-	NULL		0.617	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNRH2	HGNC	protein_coding	OTTHUMT00000077694.2	C	NM_001501		3025090	+1	no_errors	ENST00000245983	ensembl	human	known	70_37	silent	SNP	0.004	G
GNRH2	2797	genome.wustl.edu	37	20	3025090	3025090	+	Silent	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:3025090C>G	ENST00000245983.2	+	2	81	c.30C>G	c.(28-30)ctC>ctG	p.L10L	GNRH2_ENST00000359987.1_Silent_p.L10L|GNRH2_ENST00000380346.2_Silent_p.L10L|GNRH2_ENST00000359100.2_Silent_p.L10L|MRPS26_ENST00000380325.3_5'Flank|GNRH2_ENST00000380347.2_Silent_p.L10L	NM_001501.1	NP_001492.1	O43555	GON2_HUMAN	gonadotropin-releasing hormone 2	10					multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			ovary(1)|upper_aerodigestive_tract(1)	2						GCCTCCTGCTCCTGCTGCTGC	0.617																																																	0													69.0	69.0	69.0					20																	3025090		2203	4300	6503	SO:0001819	synonymous_variant	2797			AF036329	CCDS13040.1, CCDS13041.1, CCDS13042.1	20p13	2013-02-26			ENSG00000125787	ENSG00000125787		"""Endogenous ligands"""	4420	protein-coding gene	gene with protein product		602352				9419371, 12447356	Standard	NM_178331		Approved		uc002whr.1	O43555	OTTHUMG00000031723	ENST00000245983.2:c.30C>G	20.37:g.3025090C>G			Q14C68|Q14C69|Q9BYN9|Q9BYP0	Silent	SNP	pfam_GnRH	p.L10	ENST00000245983.2	37	c.30	CCDS13040.1	20																																																																																			GNRH2	-	NULL		0.617	GNRH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GNRH2	HGNC	protein_coding	OTTHUMT00000077694.2	C	NM_001501		3025090	+1	no_errors	ENST00000245983	ensembl	human	known	70_37	silent	SNP	0.004	G
GPT2	84706	genome.wustl.edu	37	16	46958347	46958347	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:46958347C>G	ENST00000340124.4	+	10	1371	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	GPT2_ENST00000440783.2_Missense_Mutation_p.T320R	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	420					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GCAAAGCTGACGGAAGACCTG	0.507																																																	0													118.0	101.0	107.0					16																	46958347		2203	4300	6503	SO:0001583	missense	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1259C>G	16.37:g.46958347C>G	ENSP00000345282:p.Thr420Arg		Q8N9E2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.T420R	ENST00000340124.4	37	c.1259	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002405	0.93227	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.22743	2.11;1.94	4.51	4.51	0.55191	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051217	0.85682	D	0.000000	T	0.51092	0.1654	M	0.88450	2.955	0.80722	D	1	P;D	0.60160	0.853;0.987	P;P	0.61658	0.672;0.892	T	0.63148	-0.6702	10	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	320;420	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	R	420;320	ENSP00000345282:T420R;ENSP00000413804:T320R	ENSP00000345282:T420R	T	+	2	0	GPT2	45515848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.592000	0.82676	2.494000	0.84150	0.655000	0.94253	ACG	GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.507	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46958347	+1	no_errors	ENST00000340124	ensembl	human	known	70_37	missense	SNP	1.000	G
GPT2	84706	genome.wustl.edu	37	16	46958347	46958347	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:46958347C>G	ENST00000340124.4	+	10	1371	c.1259C>G	c.(1258-1260)aCg>aGg	p.T420R	GPT2_ENST00000440783.2_Missense_Mutation_p.T320R	NM_133443.2	NP_597700.1	Q8TD30	ALAT2_HUMAN	glutamic pyruvate transaminase (alanine aminotransferase) 2	420					2-oxoglutarate metabolic process (GO:0006103)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-alanine catabolic process (GO:0042853)|L-alanine metabolic process (GO:0042851)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	L-alanine:2-oxoglutarate aminotransferase activity (GO:0004021)|pyridoxal phosphate binding (GO:0030170)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(37;0.0276)|all_epithelial(9;0.0498)|all_lung(18;0.0522)			L-Alanine(DB00160)|Phenelzine(DB00780)	GCAAAGCTGACGGAAGACCTG	0.507																																																	0													118.0	101.0	107.0					16																	46958347		2203	4300	6503	SO:0001583	missense	84706				CCDS10725.1, CCDS45478.1	16q12.1	2008-02-05			ENSG00000166123	ENSG00000166123	2.6.1.2		18062	protein-coding gene	gene with protein product		138210					Standard	NM_133443		Approved	ALT2	uc002eel.3	Q8TD30	OTTHUMG00000132541	ENST00000340124.4:c.1259C>G	16.37:g.46958347C>G	ENSP00000345282:p.Thr420Arg		Q8N9E2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.T420R	ENST00000340124.4	37	c.1259	CCDS10725.1	16	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002405	0.93227	.	.	ENSG00000166123	ENST00000340124;ENST00000440783	T;T	0.22743	2.11;1.94	4.51	4.51	0.55191	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.051217	0.85682	D	0.000000	T	0.51092	0.1654	M	0.88450	2.955	0.80722	D	1	P;D	0.60160	0.853;0.987	P;P	0.61658	0.672;0.892	T	0.63148	-0.6702	10	0.87932	D	0	.	17.7536	0.88442	0.0:1.0:0.0:0.0	.	320;420	Q8TD30-2;Q8TD30	.;ALAT2_HUMAN	R	420;320	ENSP00000345282:T420R;ENSP00000413804:T320R	ENSP00000345282:T420R	T	+	2	0	GPT2	45515848	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.592000	0.82676	2.494000	0.84150	0.655000	0.94253	ACG	GPT2	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.507	GPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPT2	HGNC	protein_coding	OTTHUMT00000255741.2	C			46958347	+1	no_errors	ENST00000340124	ensembl	human	known	70_37	missense	SNP	1.000	G
HCN4	10021	genome.wustl.edu	37	15	73616100	73616100	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:73616100G>A	ENST00000261917.3	-	8	3327	c.2334C>T	c.(2332-2334)atC>atT	p.I778I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	778					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGTGCCTGGATCAGCGGGG	0.687																																																	0													27.0	32.0	30.0					15																	73616100		2196	4295	6491	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2334C>T	15.37:g.73616100G>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.I778	ENST00000261917.3	37	c.2334	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.687	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73616100	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	0.997	A
HCN4	10021	genome.wustl.edu	37	15	73616100	73616100	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:73616100G>A	ENST00000261917.3	-	8	3327	c.2334C>T	c.(2332-2334)atC>atT	p.I778I		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	778					blood circulation (GO:0008015)|cation transport (GO:0006812)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)	cAMP binding (GO:0030552)|cation channel activity (GO:0005261)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGGTGCCTGGATCAGCGGGG	0.687																																																	0													27.0	32.0	30.0					15																	73616100		2196	4295	6491	SO:0001819	synonymous_variant	10021			AJ132429	CCDS10248.1	15q24.1	2011-07-05			ENSG00000138622	ENSG00000138622		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	16882	protein-coding gene	gene with protein product		605206				10228147, 10430953, 16382102	Standard	NM_005477		Approved		uc002avp.3	Q9Y3Q4	OTTHUMG00000137563	ENST00000261917.3:c.2334C>T	15.37:g.73616100G>A			Q9UMQ7	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.I778	ENST00000261917.3	37	c.2334	CCDS10248.1	15																																																																																			HCN4	-	NULL		0.687	HCN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN4	HGNC	protein_coding	OTTHUMT00000268900.2	G	NM_005477		73616100	-1	no_errors	ENST00000261917	ensembl	human	known	70_37	silent	SNP	0.997	A
MROH7	374977	genome.wustl.edu	37	1	55163338	55163338	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:55163338G>T	ENST00000421030.2	+	17	3249				MROH7_ENST00000545244.1_Intron|MROH7_ENST00000409996.1_Intron|MROH7_ENST00000339553.5_Nonsense_Mutation_p.E993*|MROH7-TTC4_ENST00000414150.2_Intron|MROH7_ENST00000395690.2_Nonsense_Mutation_p.E993*|MROH7_ENST00000454855.2_Intron	NM_001039464.2	NP_001034553	Q68CQ1	MROH7_HUMAN	maestro heat-like repeat family member 7							extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											accctgcgaagaaggaattgt	0.428																																																	0																																										SO:0001627	intron_variant	374977			AL832492	CCDS41342.2	1p32.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000184313	ENSG00000184313		"""maestro heat-like repeat containing"""	24802	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 175"", ""HEAT repeat containing 8"""	C1orf175, HEATR8		12477932	Standard	NM_001039464		Approved	FLJ46354	uc010ooe.1	Q68CQ1	OTTHUMG00000009890	ENST00000421030.2:c.2964+2175G>T	1.37:g.55163338G>T			A0AUX8|Q5TA99|Q6ZP40|Q6ZRH6|Q8N311|Q8NA14	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.E993*	ENST00000421030.2	37	c.2977	CCDS41342.2	1	.	.	.	.	.	.	.	.	.	.	G	38	7.059886	0.98036	.	.	ENSG00000184313	ENST00000339553;ENST00000395690	.	.	.	2.02	-0.0454	0.13851	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	7.7383	0.28827	0.0:0.5163:0.4837:0.0	.	.	.	.	X	993	.	ENSP00000343211:E993X	E	+	1	0	HEATR8	54935926	0.001000	0.12720	0.002000	0.10522	0.019000	0.09904	0.032000	0.13732	-0.016000	0.14127	0.467000	0.42956	GAA	HEATR8	-	NULL		0.428	MROH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR8	HGNC	protein_coding	OTTHUMT00000346978.1	G	NM_198547		55163338	+1	no_errors	ENST00000339553	ensembl	human	known	70_37	nonsense	SNP	0.003	T
HID1	283987	genome.wustl.edu	37	17	72963925	72963925	+	Intron	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:72963925G>C	ENST00000425042.2	-	2	144				RP11-309N17.4_ENST00000577295.1_RNA|HID1_ENST00000532900.1_Intron	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing						intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ctcggtgacagagtggttcac	0.547																																																	0																																										SO:0001627	intron_variant	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.67-3198C>G	17.37:g.72963925G>C			Q8N5L6|Q8TE83|Q9NT34	RNA	SNP	-	NULL	ENST00000425042.2	37	NULL	CCDS32726.1	17																																																																																			HID1	-	-		0.547	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	G	NM_030630		72963925	-1	no_errors	ENST00000579818	ensembl	human	known	70_37	rna	SNP	0.076	C
HLA-DRB1	3123	genome.wustl.edu	37	6	32549588	32549588	+	Missense_Mutation	SNP	G	G	A	rs201929247	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:32549588G>A	ENST00000360004.5	-	3	503	c.398C>T	c.(397-399)tCa>tTa	p.S133L		NM_002124.3	NP_002115.2	Q30167	2B1A_HUMAN	major histocompatibility complex, class II, DR beta 1	133	Beta-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)				large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						CTGGGTCTTTGAAGGATATAC	0.512										Multiple Myeloma(14;0.17)																																							0													57.0	71.0	66.0					6																	32549588		1511	2709	4220	SO:0001583	missense	3123			AJ297583	CCDS47409.1	6p21.3	2013-01-11			ENSG00000196126	ENSG00000196126		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4948	protein-coding gene	gene with protein product		142857		HLA-DR1B			Standard	NM_001243965		Approved		uc011eri.2	P01911	OTTHUMG00000031196	ENST00000360004.5:c.398C>T	6.37:g.32549588G>A	ENSP00000353099:p.Ser133Leu		P01914|Q9MYF5	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.S133L	ENST00000360004.5	37	c.398	CCDS47409.1	6	.	.	.	.	.	.	.	.	.	.	.	6.973	0.549575	0.13374	.	.	ENSG00000196126	ENST00000360004	T	0.02916	4.11	3.87	2.05	0.26809	Immunoglobulin-like (1);Immunoglobulin C1-set (1);Immunoglobulin-like fold (1);	0.987485	0.08278	N	0.970401	T	0.01353	0.0044	L	0.48218	1.51	0.09310	N	1	B	0.22541	0.071	B	0.27380	0.079	T	0.47275	-0.9130	10	0.87932	D	0	.	7.8864	0.29653	0.2137:0.0:0.7863:0.0	.	133	P01911	2B1F_HUMAN	L	133	ENSP00000353099:S133L	ENSP00000353099:S133L	S	-	2	0	HLA-DRB1	32657566	0.033000	0.19621	0.179000	0.23059	0.051000	0.14879	2.068000	0.41471	0.252000	0.21531	0.453000	0.30009	TCA	HLA-DRB1	-	pfam_Ig_C1-set,pfscan_Ig-like		0.512	HLA-DRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB1	HGNC	protein_coding	OTTHUMT00000076393.3	G	NM_002124		32549588	-1	no_errors	ENST00000360004	ensembl	human	known	70_37	missense	SNP	0.267	A
HMGN5	79366	genome.wustl.edu	37	X	80377176	80377176	+	Intron	DEL	A	A	-	rs60170251		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:80377176delA	ENST00000358130.2	-	2	206				HMGN5_ENST00000491275.1_5'UTR	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5						chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						TCTCCTCTGGAAAAAAAAAAA	0.463																																																	0																																										SO:0001627	intron_variant	79366			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.123-5T>-	X.37:g.80377176delA			Q5JSL1	RNA	DEL	-	NULL	ENST00000358130.2	37	NULL	CCDS14448.1	X																																																																																			HMGN5	-	-		0.463	HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN5	HGNC	protein_coding	OTTHUMT00000057354.1	A	NM_030763		80377176	-1	no_errors	ENST00000491275	ensembl	human	known	70_37	rna	DEL	0.000	-
HNRNPL	3191	genome.wustl.edu	37	19	39330948	39330948	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:39330948C>T	ENST00000221419.5	-	8	1387	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	HNRNPL_ENST00000600873.1_Missense_Mutation_p.E208K|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	341	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			CTTCTCCCTTCGTAGTGAGGT	0.687																																																	0													8.0	11.0	10.0					19																	39330948		1850	3560	5410	SO:0001583	missense	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1021G>A	19.37:g.39330948C>T	ENSP00000221419:p.Glu341Lys		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.E341K	ENST00000221419.5	37	c.1021	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830769	0.32329	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750	T	0.45668	0.89	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.38348	0.1037	L	0.54323	1.7	0.58432	D	0.999997	B	0.23806	0.091	B	0.17433	0.018	T	0.21245	-1.0251	10	0.12103	T	0.63	.	17.4286	0.87533	0.0:1.0:0.0:0.0	.	341	P14866	HNRPL_HUMAN	K	341;208;208	ENSP00000221419:E341K	ENSP00000221419:E341K	E	-	1	0	HNRNPL	44022788	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.706000	0.61845	2.652000	0.90054	0.555000	0.69702	GAA	HNRNPL	-	tigrfam_HnRNP-L_PTB		0.687	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	C			39330948	-1	no_errors	ENST00000221419	ensembl	human	known	70_37	missense	SNP	1.000	T
HNRNPR	10236	genome.wustl.edu	37	1	23634678	23634678	+	IGR	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:23634678G>A	ENST00000374612.1	-	0	2694				HNRNPR_ENST00000478691.1_3'UTR|HNRNPR_ENST00000476660.1_5'Flank	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R						gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTTAATTAGTGAAAAGGACAG	0.289																																																	0																																										SO:0001628	intergenic_variant	10236			AF000364	CCDS232.1, CCDS44085.1, CCDS60020.1, CCDS72726.1, CCDS72727.1	1p36.12	2013-02-12		2007-08-16	ENSG00000125944	ENSG00000125944		"""RNA binding motif (RRM) containing"""	5047	protein-coding gene	gene with protein product		607201		HNRPR		9421497	Standard	XM_005245711		Approved	hnRNP-R	uc001bgp.4	O43390	OTTHUMG00000003224		1.37:g.23634678G>A			Q2L7G6|Q5TEH1|Q9BV64|S4R3J4	RNA	SNP	-	NULL	ENST00000374612.1	37	NULL	CCDS232.1	1																																																																																			HNRNPR	-	-		0.289	HNRNPR-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	HNRNPR	HGNC	protein_coding	OTTHUMT00000008889.1	G	NM_005826		23634678	-1	no_errors	ENST00000478691	ensembl	human	known	70_37	rna	SNP	0.005	A
HSD17B11	51170	genome.wustl.edu	37	4	88312251	88312252	+	5'UTR	INS	-	-	T	rs111862929|rs60037506|rs368478743|rs58297196	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:88312251_88312252insT	ENST00000358290.4	-	0	286_287				HSD17B11_ENST00000507286.1_5'UTR	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11						androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CGTTTGGTGTGTTTTTTTTTTT	0.465																																																	0																																										SO:0001623	5_prime_UTR_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.-30->A	4.37:g.88312262_88312262dupT			Q96HF6|Q9UKU4	RNA	INS	-	NULL	ENST00000358290.4	37	NULL	CCDS3619.1	4																																																																																			HSD17B11	-	-		0.465	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	-	NM_016245		88312252	-1	no_errors	ENST00000508413	ensembl	human	known	70_37	rna	INS	0.000:0.000	T
HSD17B12	51144	genome.wustl.edu	37	11	43694603	43694603	+	Intron	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:43694603G>A	ENST00000529261.1	+	3	333							Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12						cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						TTTAAATCAAGATGAGCGAGA	0.323																																					Ovarian(58;548 1143 13948 16572 34258)												0																																										SO:0001627	intron_variant	51144			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000529261.1:c.333+41G>A	11.37:g.43694603G>A			A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	RNA	SNP	-	NULL	ENST00000529261.1	37	NULL		11																																																																																			HSD17B12	-	-		0.323	HSD17B12-007	KNOWN	mRNA_end_NF|basic	processed_transcript	HSD17B12	HGNC	protein_coding	OTTHUMT00000389686.1	G			43694603	+1	no_errors	ENST00000526615	ensembl	human	known	70_37	rna	SNP	0.933	A
HSF1	3297	genome.wustl.edu	37	8	145515503	145515503	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:145515503C>T	ENST00000528838.1	+	1	224	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	BOP1_ENST00000307404.5_5'Flank|BOP1_ENST00000529231.1_5'Flank	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	22					cellular response to heat (GO:0034605)|defense response (GO:0006952)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|female meiotic division (GO:0007143)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)|response to lipopolysaccharide (GO:0032496)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|pronucleus (GO:0045120)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCTGACCAAGCTGTGGACCCT	0.751																																																	0													7.0	8.0	8.0					8																	145515503		2142	4223	6365	SO:0001819	synonymous_variant	3297			M64673	CCDS6419.1	8q24.3	2014-04-10			ENSG00000185122	ENSG00000185122			5224	protein-coding gene	gene with protein product		140580				1871105	Standard	NM_005526		Approved	HSTF1	uc003zbt.4	Q00613	OTTHUMG00000174604	ENST00000528838.1:c.64C>T	8.37:g.145515503C>T			A8K4L0|A8MW26|Q53XT4	Silent	SNP	pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd	p.L22	ENST00000528838.1	37	c.64	CCDS6419.1	8																																																																																			HSF1	-	pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd		0.751	HSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSF1	HGNC	protein_coding	OTTHUMT00000382053.1	C	NM_005526		145515503	+1	no_errors	ENST00000528838	ensembl	human	known	70_37	silent	SNP	1.000	T
IGSF11	152404	genome.wustl.edu	37	3	118647512	118647512	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:118647512C>T	ENST00000393775.2	-	3	573	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	IGSF11_ENST00000441144.2_Missense_Mutation_p.G89S|IGSF11_ENST00000491903.1_Missense_Mutation_p.G90S|IGSF11_ENST00000425327.2_Missense_Mutation_p.G89S|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000354673.2_Missense_Mutation_p.G89S|IGSF11_ENST00000489689.1_Missense_Mutation_p.G90S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	90	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTACCCTACCGTGGAACCGG	0.473																																																	0													73.0	68.0	70.0					3																	118647512		2203	4300	6503	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.268G>A	3.37:g.118647512C>T	ENSP00000377370:p.Gly90Ser		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G90S	ENST00000393775.2	37	c.268	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902612	0.92035	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903;ENST00000483401;ENST00000480431	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104215	0.64402	D	0.000003	T	0.81451	0.4825	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80977	-0.1141	10	0.44086	T	0.13	.	17.0746	0.86583	0.0:1.0:0.0:0.0	.	90;89;89;90;90	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	S	89;90;90;89;89;90;31;31	ENSP00000406092:G89S;ENSP00000377370:G90S;ENSP00000420486:G90S;ENSP00000346700:G89S;ENSP00000401240:G89S;ENSP00000417413:G90S;ENSP00000418976:G31S	ENSP00000346700:G89S	G	-	1	0	IGSF11	120130202	1.000000	0.71417	0.961000	0.40146	0.777000	0.43975	7.278000	0.78587	2.589000	0.87451	0.655000	0.94253	GGT	IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	C			118647512	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	missense	SNP	1.000	T
IGSF11	152404	genome.wustl.edu	37	3	118647512	118647512	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:118647512C>T	ENST00000393775.2	-	3	573	c.268G>A	c.(268-270)Ggt>Agt	p.G90S	IGSF11_ENST00000441144.2_Missense_Mutation_p.G89S|IGSF11_ENST00000491903.1_Missense_Mutation_p.G90S|IGSF11_ENST00000425327.2_Missense_Mutation_p.G89S|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000354673.2_Missense_Mutation_p.G89S|IGSF11_ENST00000489689.1_Missense_Mutation_p.G90S	NM_001015887.1	NP_001015887.1	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	90	Ig-like V-type.				cell adhesion (GO:0007155)|regulation of growth (GO:0040008)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCTACCCTACCGTGGAACCGG	0.473																																																	0													73.0	68.0	70.0					3																	118647512		2203	4300	6503	SO:0001583	missense	152404			AB079879	CCDS2983.1, CCDS46891.1	3q21.2	2013-01-11			ENSG00000144847	ENSG00000144847		"""Immunoglobulin superfamily / I-set domain containing"""	16669	protein-coding gene	gene with protein product	"""cancer/testis antigen 119"""	608351				12207903	Standard	XM_006713516		Approved	BT-IgSF, MGC35227, Igsf13, VSIG3, CT119	uc003ebw.3	Q5DX21	OTTHUMG00000159387	ENST00000393775.2:c.268G>A	3.37:g.118647512C>T	ENSP00000377370:p.Gly90Ser		C9JZN0|Q8N4F1|Q8N7T8|Q8NDD2	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G90S	ENST00000393775.2	37	c.268	CCDS46891.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.902612	0.92035	.	.	ENSG00000144847	ENST00000425327;ENST00000393775;ENST00000489689;ENST00000354673;ENST00000441144;ENST00000491903;ENST00000483401;ENST00000480431	T;T;T;T;T;T;T	0.70986	-0.53;-0.53;-0.53;-0.53;-0.53;-0.53;-0.53	4.66	4.66	0.58398	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.104215	0.64402	D	0.000003	T	0.81451	0.4825	L	0.58925	1.835	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80977	-0.1141	10	0.44086	T	0.13	.	17.0746	0.86583	0.0:1.0:0.0:0.0	.	90;89;89;90;90	C9JBA5;Q5DX21-3;Q5DX21-2;C9JMW0;Q5DX21	.;.;.;.;IGS11_HUMAN	S	89;90;90;89;89;90;31;31	ENSP00000406092:G89S;ENSP00000377370:G90S;ENSP00000420486:G90S;ENSP00000346700:G89S;ENSP00000401240:G89S;ENSP00000417413:G90S;ENSP00000418976:G31S	ENSP00000346700:G89S	G	-	1	0	IGSF11	120130202	1.000000	0.71417	0.961000	0.40146	0.777000	0.43975	7.278000	0.78587	2.589000	0.87451	0.655000	0.94253	GGT	IGSF11	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.473	IGSF11-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF11	HGNC	protein_coding	OTTHUMT00000355075.2	C			118647512	-1	no_errors	ENST00000393775	ensembl	human	known	70_37	missense	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:133791120C>T	ENST00000321016.8	-	18	2730	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657																																																	0													70.0	73.0	72.0					11																	133791120		2164	4261	6425	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2500G>A	11.37:g.133791120C>T	ENSP00000317980:p.Val834Met		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V834M	ENST00000321016.8	37	c.2500		11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285642	0.59867	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.40302	N	0.001125	T	0.77658	0.4163	L	0.51422	1.61	0.51767	D	0.999937	D	0.89917	1.0	D	0.76575	0.988	T	0.79694	-0.1696	10	0.59425	D	0.04	.	16.9242	0.86172	0.0:1.0:0.0:0.0	.	834	Q9UPX0	TUTLB_HUMAN	M	834;676	ENSP00000317980:V834M;ENSP00000436552:V676M	ENSP00000317980:V834M	V	-	1	0	IGSF9B	133296330	1.000000	0.71417	0.993000	0.49108	0.489000	0.33432	7.289000	0.78701	2.320000	0.78422	0.561000	0.74099	GTG	IGSF9B	-	NULL		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		C	XM_290502		133791120	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133791120	133791120	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:133791120C>T	ENST00000321016.8	-	18	2730	c.2500G>A	c.(2500-2502)Gtg>Atg	p.V834M	IGSF9B_ENST00000533871.2_Missense_Mutation_p.V834M			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	834					homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCTTGGCCACGCTGTACTTC	0.657																																																	0													70.0	73.0	72.0					11																	133791120		2164	4261	6425	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.2500G>A	11.37:g.133791120C>T	ENSP00000317980:p.Val834Met		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V834M	ENST00000321016.8	37	c.2500		11	.	.	.	.	.	.	.	.	.	.	C	17.03	3.285642	0.59867	.	.	ENSG00000080854	ENST00000321016;ENST00000533871	T;T	0.69685	-0.09;-0.42	4.47	4.47	0.54385	.	0.000000	0.40302	N	0.001125	T	0.77658	0.4163	L	0.51422	1.61	0.51767	D	0.999937	D	0.89917	1.0	D	0.76575	0.988	T	0.79694	-0.1696	10	0.59425	D	0.04	.	16.9242	0.86172	0.0:1.0:0.0:0.0	.	834	Q9UPX0	TUTLB_HUMAN	M	834;676	ENSP00000317980:V834M;ENSP00000436552:V676M	ENSP00000317980:V834M	V	-	1	0	IGSF9B	133296330	1.000000	0.71417	0.993000	0.49108	0.489000	0.33432	7.289000	0.78701	2.320000	0.78422	0.561000	0.74099	GTG	IGSF9B	-	NULL		0.657	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		C	XM_290502		133791120	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	T
IL2RA	3559	genome.wustl.edu	37	10	6060063	6060063	+	Silent	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:6060063C>A	ENST00000379959.3	-	7	920	c.747G>T	c.(745-747)ctG>ctT	p.L249L	IL2RA_ENST00000379954.1_Silent_p.L177L|SNORA14_ENST00000516113.1_RNA|IL2RA_ENST00000256876.6_Silent_p.L240L	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	249					activation-induced cell death of T cells (GO:0006924)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-2-mediated signaling pathway (GO:0038110)|negative regulation of defense response to virus (GO:0050687)|negative regulation of immune response (GO:0050777)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell proliferation (GO:0042130)|Notch signaling pathway (GO:0007219)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of T cell differentiation (GO:0045582)|regulation of T cell homeostatic proliferation (GO:0046013)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|interleukin-2 receptor activity (GO:0004911)			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGCTGATCAGCAGGAAAACAC	0.607																																																	0													57.0	50.0	52.0					10																	6060063		2203	4300	6503	SO:0001819	synonymous_variant	3559			X01057	CCDS7076.1	10p15-p14	2014-09-17			ENSG00000134460	ENSG00000134460		"""Interleukins and interleukin receptors"", ""CD molecules"""	6008	protein-coding gene	gene with protein product		147730	"""insulin-dependent diabetes mellitus 10"""	IL2R, IDDM10		3925551, 17676041	Standard	NM_000417		Approved	CD25	uc001iiz.2	P01589	OTTHUMG00000017616	ENST00000379959.3:c.747G>T	10.37:g.6060063C>A			Q5W007	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L249	ENST00000379959.3	37	c.747	CCDS7076.1	10																																																																																			IL2RA	-	NULL		0.607	IL2RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL2RA	HGNC	protein_coding	OTTHUMT00000046627.1	C	NM_000417		6060063	-1	no_errors	ENST00000379959	ensembl	human	known	70_37	silent	SNP	0.881	A
INHBA	3624	genome.wustl.edu	37	7	41731656	41731656	+	Intron	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:41731656C>G	ENST00000242208.4	-	3	635				INHBA-AS1_ENST00000422822.1_RNA|AC005027.3_ENST00000416150.1_RNA|INHBA-AS1_ENST00000415848.2_RNA|INHBA_ENST00000442711.1_Intron|INHBA-AS1_ENST00000420821.1_RNA|INHBA_ENST00000464515.1_5'UTR	NM_002192.2	NP_002183.1	P08476	INHBA_HUMAN	inhibin, beta A						activin receptor signaling pathway (GO:0032924)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular response to cholesterol (GO:0071397)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|defense response (GO:0006952)|endodermal cell differentiation (GO:0035987)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|eyelid development in camera-type eye (GO:0061029)|G1/S transition of mitotic cell cycle (GO:0000082)|growth (GO:0040007)|hair follicle development (GO:0001942)|hematopoietic progenitor cell differentiation (GO:0002244)|hemoglobin biosynthetic process (GO:0042541)|male gonad development (GO:0008584)|mesodermal cell differentiation (GO:0048333)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of follicle-stimulating hormone secretion (GO:0046882)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of macrophage differentiation (GO:0045650)|negative regulation of phosphorylation (GO:0042326)|nervous system development (GO:0007399)|odontogenesis (GO:0042476)|ovarian follicle development (GO:0001541)|palate development (GO:0060021)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of follicle-stimulating hormone secretion (GO:0046881)|positive regulation of ovulation (GO:0060279)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of follicle-stimulating hormone secretion (GO:0046880)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to drug (GO:0042493)	activin A complex (GO:0043509)|extracellular region (GO:0005576)|inhibin A complex (GO:0043512)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|hormone activity (GO:0005179)|identical protein binding (GO:0042802)|peptide hormone binding (GO:0017046)|type II activin receptor binding (GO:0070699)			biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						ATTTCCTTCTCTTTTCCTAAG	0.358										TSP Lung(11;0.080)																																							0																																										SO:0001627	intron_variant	3624				CCDS5464.1	7p15-p13	2014-01-30	2007-07-30		ENSG00000122641	ENSG00000122641		"""Endogenous ligands"""	6066	protein-coding gene	gene with protein product		147290	"""inhibin, beta A (activin A, activin AB alpha polypeptide)"""			3345731	Standard	NM_002192		Approved		uc003thr.3	P08476	OTTHUMG00000023574	ENST00000242208.4:c.389-1516G>C	7.37:g.41731656C>G			Q14599	RNA	SNP	-	NULL	ENST00000242208.4	37	NULL	CCDS5464.1	7																																																																																			INHBA	-	-		0.358	INHBA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INHBA	HGNC	protein_coding	OTTHUMT00000250793.1	C			41731656	-1	no_errors	ENST00000464515	ensembl	human	known	70_37	rna	SNP	0.000	G
IPCEF1	26034	genome.wustl.edu	37	6	154567853	154567853	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:154567853G>A	ENST00000265198.4	-	5	270	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	IPCEF1_ENST00000519344.1_Silent_p.L11L|OPRM1_ENST00000337049.4_Silent_p.Q397Q|IPCEF1_ENST00000367220.4_Silent_p.L40L|IPCEF1_ENST00000422970.2_Silent_p.L40L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	39					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCATGGCCCAGATCTTTACAC	0.423																																																	0													147.0	129.0	135.0					6																	154567853		2203	4300	6503	SO:0001819	synonymous_variant	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.115C>T	6.37:g.154567853G>A			A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L40	ENST00000265198.4	37	c.118	CCDS5245.1	6																																																																																			IPCEF1	-	NULL		0.423	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	G	NM_001130699		154567853	-1	no_errors	ENST00000367220	ensembl	human	known	70_37	silent	SNP	1.000	A
IPCEF1	26034	genome.wustl.edu	37	6	154567853	154567853	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:154567853G>A	ENST00000265198.4	-	5	270	c.115C>T	c.(115-117)Ctg>Ttg	p.L39L	IPCEF1_ENST00000519344.1_Silent_p.L11L|OPRM1_ENST00000337049.4_Silent_p.Q397Q|IPCEF1_ENST00000367220.4_Silent_p.L40L|IPCEF1_ENST00000422970.2_Silent_p.L40L	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1	Q8WWN9	ICEF1_HUMAN	interaction protein for cytohesin exchange factors 1	39					oxidation-reduction process (GO:0055114)|oxygen transport (GO:0015671)|positive regulation of GTP catabolic process (GO:0033126)|response to oxidative stress (GO:0006979)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	oxygen transporter activity (GO:0005344)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						GCATGGCCCAGATCTTTACAC	0.423																																																	0													147.0	129.0	135.0					6																	154567853		2203	4300	6503	SO:0001819	synonymous_variant	26034			AB007863	CCDS5245.1, CCDS47509.1	6q25.2	2013-01-10			ENSG00000074706	ENSG00000074706		"""Pleckstrin homology (PH) domain containing"""	21204	protein-coding gene	gene with protein product	"""phosphoinositide binding protein PIP3-E"""					11804589, 19756519	Standard	NM_001130699		Approved	PIP3-E, KIAA0403	uc021zhc.1	Q8WWN9	OTTHUMG00000015872	ENST00000265198.4:c.115C>T	6.37:g.154567853G>A			A8K1K2|B7ZL78|B7ZL80|O43153|Q5HYL8	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L40	ENST00000265198.4	37	c.118	CCDS5245.1	6																																																																																			IPCEF1	-	NULL		0.423	IPCEF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IPCEF1	HGNC	protein_coding	OTTHUMT00000042789.2	G	NM_001130699		154567853	-1	no_errors	ENST00000367220	ensembl	human	known	70_37	silent	SNP	1.000	A
KALRN	8997	genome.wustl.edu	37	3	124215190	124215190	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:124215190A>G	ENST00000240874.3	+	33	5016	c.4859A>G	c.(4858-4860)gAt>gGt	p.D1620G	KALRN_ENST00000360013.3_Missense_Mutation_p.D1620G|KALRN_ENST00000460856.1_Missense_Mutation_p.D1611G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1620					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCAGGGGGATGGGAGCAGC	0.537																																																	0													134.0	128.0	130.0					3																	124215190		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4859A>G	3.37:g.124215190A>G	ENSP00000240874:p.Asp1620Gly		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D1620G	ENST00000240874.3	37	c.4859	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.62|18.62	3.663166|3.663166	0.67700|0.67700	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.14391|.	2.51;2.51;2.51|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.117169|.	0.56097|.	D|.	0.000033|.	T|T	0.71307|0.71307	0.3324|0.3324	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.50819|.	0.774;0.939;0.855|.	P;P;P|.	0.54544|.	0.574;0.516;0.755|.	T|T	0.70360|0.70360	-0.4893|-0.4893	10|5	0.32370|.	T|.	0.25|.	.|.	15.6116|15.6116	0.76727|0.76727	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1611;1620;1620|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	G|V	1611;1620;1620|1589	ENSP00000418611:D1611G;ENSP00000240874:D1620G;ENSP00000353109:D1620G|.	ENSP00000240874:D1620G|.	D|M	+|+	2|1	0|0	KALRN|KALRN	125697880|125697880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.087000|9.087000	0.94110|0.94110	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAT|ATG	KALRN	-	NULL		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	A	NM_003947		124215190	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	G
KALRN	8997	genome.wustl.edu	37	3	124215190	124215190	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:124215190A>G	ENST00000240874.3	+	33	5016	c.4859A>G	c.(4858-4860)gAt>gGt	p.D1620G	KALRN_ENST00000360013.3_Missense_Mutation_p.D1620G|KALRN_ENST00000460856.1_Missense_Mutation_p.D1611G	NM_003947.4	NP_003938.1	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1620					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCAGGGGGATGGGAGCAGC	0.537																																																	0													134.0	128.0	130.0					3																	124215190		2203	4300	6503	SO:0001583	missense	8997			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000240874.3:c.4859A>G	3.37:g.124215190A>G	ENSP00000240874:p.Asp1620Gly		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.D1620G	ENST00000240874.3	37	c.4859	CCDS3027.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.62|18.62	3.663166|3.663166	0.67700|0.67700	.|.	.|.	ENSG00000160145|ENSG00000160145	ENST00000460856;ENST00000240874;ENST00000360013|ENST00000354186	T;T;T|.	0.14391|.	2.51;2.51;2.51|.	5.25|5.25	5.25|5.25	0.73442|0.73442	.|.	0.117169|.	0.56097|.	D|.	0.000033|.	T|T	0.71307|0.71307	0.3324|0.3324	M|M	0.61703|0.61703	1.905|1.905	0.58432|0.58432	D|D	0.999999|0.999999	P;P;P|.	0.50819|.	0.774;0.939;0.855|.	P;P;P|.	0.54544|.	0.574;0.516;0.755|.	T|T	0.70360|0.70360	-0.4893|-0.4893	10|5	0.32370|.	T|.	0.25|.	.|.	15.6116|15.6116	0.76727|0.76727	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1611;1620;1620|.	C9IZQ6;O60229;O60229-2|.	.;KALRN_HUMAN;.|.	G|V	1611;1620;1620|1589	ENSP00000418611:D1611G;ENSP00000240874:D1620G;ENSP00000353109:D1620G|.	ENSP00000240874:D1620G|.	D|M	+|+	2|1	0|0	KALRN|KALRN	125697880|125697880	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.087000|9.087000	0.94110|0.94110	2.333000|2.333000	0.79357|0.79357	0.533000|0.533000	0.62120|0.62120	GAT|ATG	KALRN	-	NULL		0.537	KALRN-005	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000258843.4	A	NM_003947		124215190	+1	no_errors	ENST00000360013	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF2A	3796	genome.wustl.edu	37	5	61668279	61668279	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:61668279G>T	ENST00000401507.3	+	17	1957				KIF2A_ENST00000506857.1_Intron|KIF2A_ENST00000407818.3_Missense_Mutation_p.G554V|KIF2A_ENST00000509663.2_Intron|KIF2A_ENST00000381103.2_Intron	NM_001243953.1|NM_004520.4	NP_001230882.1|NP_004511.2	O00139	KIF2A_HUMAN	kinesin heavy chain member 2A						antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|nervous system development (GO:0007399)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	15		Lung NSC(810;8.94e-06)|Prostate(74;0.0132)|Ovarian(174;0.051)|Breast(144;0.077)		Lung(70;0.14)		AAGGAGTTTGGAATTAGTCCA	0.408																																																	0													90.0	85.0	87.0					5																	61668279		1855	4104	5959	SO:0001627	intron_variant	3796			BC031828	CCDS3980.2, CCDS47216.1, CCDS58949.1	5q12-q13	2008-02-05	2006-09-26	2006-09-26	ENSG00000068796	ENSG00000068796		"""Kinesins"""	6318	protein-coding gene	gene with protein product		602591	"""kinesin heavy chain member 2"""	KIF2		9177777	Standard	NM_001098511		Approved	HK2	uc003jsz.4	O00139	OTTHUMG00000097755	ENST00000401507.3:c.1647-1235G>T	5.37:g.61668279G>T			A5YM42|A5YM54|B4DY54|D3DW97|E9PB70|Q7Z5I3|Q8N5Q7	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G554V	ENST00000401507.3	37	c.1661	CCDS3980.2	5	.	.	.	.	.	.	.	.	.	.	G	18.28	3.588112	0.66105	.	.	ENSG00000068796	ENST00000407818	T	0.73681	-0.77	4.97	4.97	0.65823	.	.	.	.	.	T	0.73845	0.3639	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74746	-0.3561	9	0.27082	T	0.32	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	554	O00139-4	.	V	554	ENSP00000385000:G554V	ENSP00000385000:G554V	G	+	2	0	KIF2A	61704036	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.624000	0.98398	2.587000	0.87381	0.655000	0.94253	GGA	KIF2A	-	smart_Kinesin_motor_dom		0.408	KIF2A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF2A	HGNC	protein_coding	OTTHUMT00000317989.1	G	NM_004520		61668279	+1	no_errors	ENST00000407818	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF7	374654	genome.wustl.edu	37	15	90171693	90171693	+	Missense_Mutation	SNP	C	C	G	rs377066237		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:90171693C>G	ENST00000394412.3	-	19	4065	c.3989G>C	c.(3988-3990)cGa>cCa	p.R1330P	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1330			Missing (in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67). {ECO:0000269|PubMed:21633164}.		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGGGCTGGCTCGTCGCAGTTC	0.672																																																	0													39.0	48.0	45.0					15																	90171693		2186	4271	6457	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3989G>C	15.37:g.90171693C>G	ENSP00000377934:p.Arg1330Pro		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1330P	ENST00000394412.3	37	c.3989	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099020	0.56183	.	.	ENSG00000166813	ENST00000394412	T	0.74947	-0.89	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	L	0.32530	0.975	0.38407	D	0.945836	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.916	T	0.81942	-0.0702	10	0.62326	D	0.03	.	13.8321	0.63386	0.0:0.9265:0.0:0.0735	.	816;1330	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	P	1330	ENSP00000377934:R1330P	ENSP00000377934:R1330P	R	-	2	0	KIF7	87972697	0.994000	0.37717	0.102000	0.21198	0.116000	0.19942	4.951000	0.63610	2.635000	0.89317	0.462000	0.41574	CGA	KIF7	-	NULL		0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90171693	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.683	G
KIF7	374654	genome.wustl.edu	37	15	90171693	90171693	+	Missense_Mutation	SNP	C	C	G	rs377066237		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:90171693C>G	ENST00000394412.3	-	19	4065	c.3989G>C	c.(3988-3990)cGa>cCa	p.R1330P	KIF7_ENST00000558928.1_Intron	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1330			Missing (in JBTS12; found in a patient with Joubert syndrome that also carries mutations L-358 and T-833 in TMEM67). {ECO:0000269|PubMed:21633164}.		ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CGGGCTGGCTCGTCGCAGTTC	0.672																																																	0													39.0	48.0	45.0					15																	90171693		2186	4271	6457	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3989G>C	15.37:g.90171693C>G	ENSP00000377934:p.Arg1330Pro		Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R1330P	ENST00000394412.3	37	c.3989	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	C	16.35	3.099020	0.56183	.	.	ENSG00000166813	ENST00000394412	T	0.74947	-0.89	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.79482	0.4453	L	0.32530	0.975	0.38407	D	0.945836	D;D	0.89917	1.0;0.997	D;D	0.78314	0.991;0.916	T	0.81942	-0.0702	10	0.62326	D	0.03	.	13.8321	0.63386	0.0:0.9265:0.0:0.0735	.	816;1330	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	P	1330	ENSP00000377934:R1330P	ENSP00000377934:R1330P	R	-	2	0	KIF7	87972697	0.994000	0.37717	0.102000	0.21198	0.116000	0.19942	4.951000	0.63610	2.635000	0.89317	0.462000	0.41574	CGA	KIF7	-	NULL		0.672	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	C	NM_198525		90171693	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	0.683	G
KLHL1	57626	genome.wustl.edu	37	13	70371050	70371050	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:70371050T>A	ENST00000377844.4	-	7	2218	c.1459A>T	c.(1459-1461)Atc>Ttc	p.I487F	KLHL1_ENST00000545028.1_Missense_Mutation_p.I294F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	487					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCCTGGATCCACAGATTT	0.383																																																	0													189.0	172.0	178.0					13																	70371050		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1459A>T	13.37:g.70371050T>A	ENSP00000367075:p.Ile487Phe		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.I487F	ENST00000377844.4	37	c.1459	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247278	0.22880	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000004	T	0.74245	0.3691	L	0.37697	1.125	0.49582	D	0.999801	P;P	0.44044	0.697;0.825	P;P	0.48873	0.593;0.511	T	0.69709	-0.5072	10	0.10377	T	0.69	.	15.5524	0.76164	0.0:0.0:0.0:1.0	.	487;487	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	487;294	ENSP00000367075:I487F;ENSP00000439602:I294F	ENSP00000367075:I487F	I	-	1	0	KLHL1	69269051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.898000	0.63238	2.132000	0.65825	0.533000	0.62120	ATC	KLHL1	-	pfam_Kelch_1,smart_Kelch_1		0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	T	NM_020866		70371050	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL1	57626	genome.wustl.edu	37	13	70371050	70371050	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:70371050T>A	ENST00000377844.4	-	7	2218	c.1459A>T	c.(1459-1461)Atc>Ttc	p.I487F	KLHL1_ENST00000545028.1_Missense_Mutation_p.I294F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	487					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CCTGCCTGGATCCACAGATTT	0.383																																																	0													189.0	172.0	178.0					13																	70371050		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.1459A>T	13.37:g.70371050T>A	ENSP00000367075:p.Ile487Phe		A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.I487F	ENST00000377844.4	37	c.1459	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	T	10.06	1.247278	0.22880	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.77620	-1.11;-1.11	5.31	5.31	0.75309	Galactose oxidase, beta-propeller (1);	0.000000	0.64402	D	0.000004	T	0.74245	0.3691	L	0.37697	1.125	0.49582	D	0.999801	P;P	0.44044	0.697;0.825	P;P	0.48873	0.593;0.511	T	0.69709	-0.5072	10	0.10377	T	0.69	.	15.5524	0.76164	0.0:0.0:0.0:1.0	.	487;487	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	487;294	ENSP00000367075:I487F;ENSP00000439602:I294F	ENSP00000367075:I487F	I	-	1	0	KLHL1	69269051	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.898000	0.63238	2.132000	0.65825	0.533000	0.62120	ATC	KLHL1	-	pfam_Kelch_1,smart_Kelch_1		0.383	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	T	NM_020866		70371050	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	1.000	A
CDKN2D	1032	genome.wustl.edu	37	19	10676487	10676488	+	IGR	INS	-	-	CCC	rs61702518|rs34864064|rs570294642	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:10676487_10676488insCCC	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_In_Frame_Ins_p.26_27insG|KRI1_ENST00000537964.1_Intron|KRI1_ENST00000312962.6_Intron	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAGACGGGATGCCCCCCCCCAG	0.733																																																	0																																										SO:0001628	intergenic_variant	65095				CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10676494_10676496dupCCC			Q13102|Q6FGE9	In_Frame_Ins	INS	pfam_KRR1-interact_protein_1	p.27in_frame_insG	ENST00000393599.2	37	c.80_79	CCDS12244.1	19																																																																																			KRI1	-	NULL		0.733	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRI1	HGNC	protein_coding	OTTHUMT00000452030.1	-	NM_079421		10676488	-1	no_errors	ENST00000361821	ensembl	human	putative	70_37	in_frame_ins	INS	0.000:0.000	CCC
LINC00229	414351	genome.wustl.edu	37	22	45002824	45002824	+	lincRNA	SNP	C	C	T	rs58622070		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr22:45002824C>T	ENST00000443783.1	-	0	494					NR_044991.1				long intergenic non-protein coding RNA 229																		CAGGTGTGCCCACCAGGGCTC	0.572																																																	0																																												414351					22q13.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000234300	ENSG00000234300		"""Long non-coding RNAs"""	13240	non-coding RNA	RNA, long non-coding			"""chromosome 22 open reading frame 10"", ""non-protein coding RNA 229"""	C22orf10, NCRNA00229			Standard	NR_044991		Approved	dJ474I12.C22.2	uc021wrf.1		OTTHUMG00000149974		22.37:g.45002824C>T				RNA	SNP	-	NULL	ENST00000443783.1	37	NULL		22																																																																																			LINC00229	-	-		0.572	LINC00229-001	KNOWN	basic|exp_conf	lincRNA	LINC00229	HGNC	lincRNA	OTTHUMT00000314900.1	C			45002824	-1	no_errors	ENST00000443783	ensembl	human	known	70_37	rna	SNP	0.001	T
LINC00442	348021	genome.wustl.edu	37	13	19582837	19582837	+	RNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:19582837C>A	ENST00000456737.1	+	0	439				LINC00442_ENST00000542070.1_RNA|LINC00442_ENST00000428086.2_RNA	NR_026852.1				long intergenic non-protein coding RNA 442																		TCCTTCTAGCCCTACTGGTCA	0.512																																																	0																																												348021					13q12.11	2012-10-12			ENSG00000232685	ENSG00000232685		"""Long non-coding RNAs"""	42779	non-coding RNA	RNA, long non-coding							Standard	NR_026852		Approved		uc001uma.1		OTTHUMG00000016475		13.37:g.19582837C>A				RNA	SNP	-	NULL	ENST00000456737.1	37	NULL		13																																																																																			LINC00442	-	-		0.512	LINC00442-003	KNOWN	basic	antisense	LINC00442	HGNC	antisense	OTTHUMT00000106498.1	C			19582837	+1	no_errors	ENST00000428086	ensembl	human	known	70_37	rna	SNP	0.003	A
LINC00472	79940	genome.wustl.edu	37	6	72054063	72054063	+	lincRNA	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:72054063C>G	ENST00000602823.1	-	0	267																											TTTTCTTTCTCAATACAATAT	0.368																																																	0																																												79940																															6.37:g.72054063C>G				RNA	SNP	-	NULL	ENST00000602823.1	37	NULL		6																																																																																			LINC00472	-	-		0.368	RP3-331H24.5-001	KNOWN	basic|readthrough_transcript	lincRNA	LINC00472	HGNC	lincRNA	OTTHUMT00000467928.1	C			72054063	-1	no_errors	ENST00000413945	ensembl	human	putative	70_37	rna	SNP	0.000	G
BMS1P17	101101776	genome.wustl.edu	37	14	19904366	19904366	+	lincRNA	SNP	C	C	T	rs201156189	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr14:19904366C>T	ENST00000552602.1	-	0	202				BMS1P18_ENST00000549877.1_lincRNA																							GTCAGGAACGCGGACCACAGG	0.488													C|||	722	0.144169	0.031	0.2205	5008	,	,		30540	0.1508		0.2326	False		,,,				2504	0.1452																0																																												0																															14.37:g.19904366C>T				RNA	SNP	-	NULL	ENST00000552602.1	37	NULL		14																																																																																			LINC00516	-	-		0.488	CTD-2314B22.3-003	KNOWN	basic	lincRNA	LINC00516	HGNC	lincRNA	OTTHUMT00000409412.1	C			19904366	+1	no_errors	ENST00000549877	ensembl	human	known	70_37	rna	SNP	1.000	T
MMP25	64386	genome.wustl.edu	37	16	3107516	3107516	+	Intron	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:3107516C>A	ENST00000336577.4	+	7	1160				RP11-473M20.7_ENST00000570949.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA|RP11-473M20.7_ENST00000573878.1_RNA|RP11-473M20.7_ENST00000572930.1_RNA|RP11-473M20.7_ENST00000573130.1_RNA|RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000597579.1_RNA|RP11-473M20.7_ENST00000573953.1_RNA	NM_022468.4	NP_071913.1	Q9H239	MMP28_HUMAN	matrix metallopeptidase 25						negative regulation of macrophage chemotaxis (GO:0010760)	cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14					Marimastat(DB00786)	ctactcacctctcctttcctc	0.567																																					NSCLC(147;665 1067 3888 6863 19894 30469 40247 45633 51336)												0													97.0	88.0	91.0					16																	3107516		2197	4300	6497	SO:0001627	intron_variant	100507419			AF145442	CCDS10492.1	16p13.3	2008-02-05	2005-08-08			ENSG00000008516			14246	protein-coding gene	gene with protein product		608482	"""matrix metalloproteinase 25"", ""matrix metallopeptidase-like 1"""	MMPL1, MMP20		10628838, 10706098	Standard	NM_022468		Approved	MT6-MMP	uc002cth.3	Q9NPA2		ENST00000336577.4:c.924-16C>A	16.37:g.3107516C>A			Q96F04|Q96TE2	RNA	SNP	-	NULL	ENST00000336577.4	37	NULL	CCDS10492.1	16																																																																																			RP11-473M20.7	-	-		0.567	MMP25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507419	Clone_based_vega_gene	protein_coding	OTTHUMT00000437116.1	C	NM_022468		3107516	-1	no_errors	ENST00000573953	ensembl	human	known	70_37	rna	SNP	0.003	A
LRP8	7804	genome.wustl.edu	37	1	53708227	53708227	+	IGR	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:53708227G>C	ENST00000306052.6	-	0	4467				RP5-1024G6.8_ENST00000602943.1_lincRNA|RP5-1024G6.5_ENST00000458151.1_RNA	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor						ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						AACGGAACTTGAATGACAAGA	0.478																																																	0																																										SO:0001628	intergenic_variant	100507564			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924		1.37:g.53708227G>C			B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	RNA	SNP	-	NULL	ENST00000306052.6	37	NULL	CCDS578.1	1																																																																																			RP5-1024G6.5	-	-		0.478	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LOC100507564	Clone_based_vega_gene	protein_coding	OTTHUMT00000024699.1	G	NM_004631		53708227	+1	no_errors	ENST00000458151	ensembl	human	putative	70_37	rna	SNP	0.004	C
LOC286083	286083	genome.wustl.edu	37	8	1250741	1250741	+	lincRNA	SNP	T	T	C	rs530131132		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:1250741T>C	ENST00000521186.1	-	0	88					NR_033895.1																						CTCTGCTCCATACCTGGGACC	0.522																																																	0																																												286083																															8.37:g.1250741T>C				RNA	SNP	-	NULL	ENST00000521186.1	37	NULL		8																																																																																			CTD-2281E23.1	-	-		0.522	CTD-2281E23.1-001	KNOWN	basic	lincRNA	LOC286083	Clone_based_vega_gene	lincRNA	OTTHUMT00000374626.1	T			1250741	-1	no_errors	ENST00000521186	ensembl	human	known	70_37	rna	SNP	0.001	C
LOC339192	339192	genome.wustl.edu	37	17	43295625	43295625	+	RNA	SNP	C	C	T	rs7218799		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:43295625C>T	ENST00000591365.1	-	0	4476				CTD-2020K17.1_ENST00000586376.1_RNA|CTD-2020K17.1_ENST00000585471.1_RNA|CTD-2020K17.1_ENST00000590522.1_RNA|CTD-2020K17.1_ENST00000590495.1_RNA																							GCCCCtttttctttttttttt	0.542																																																	0																																												339192																															17.37:g.43295625C>T				RNA	SNP	-	NULL	ENST00000591365.1	37	NULL		17																																																																																			CTD-2020K17.1	-	-		0.542	CTD-2020K17.1-001	KNOWN	basic	antisense	LOC339192	Clone_based_vega_gene	antisense	OTTHUMT00000450194.1	C			43295625	-1	no_errors	ENST00000585471	ensembl	human	known	70_37	rna	SNP	0.003	T
UBL7	84993	genome.wustl.edu	37	15	74753949	74753949	+	5'Flank	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:74753949C>G	ENST00000567435.1	-	0	0				UBL7_ENST00000565335.1_5'Flank|UBL7-AS1_ENST00000568853.1_RNA|UBL7_ENST00000361351.4_5'Flank|UBL7-AS1_ENST00000499217.2_RNA|UBL7-AS1_ENST00000567286.1_RNA|UBL7_ENST00000395081.2_5'Flank|UBL7-AS1_ENST00000564621.1_RNA|UBL7-AS1_ENST00000564137.1_RNA|UBL7_ENST00000564488.1_5'Flank			Q96S82	UBL7_HUMAN	ubiquitin-like 7											endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GCAGCCTCTTCTGTGCTCCTC	0.592																																																	0																																										SO:0001631	upstream_gene_variant	440288			BC007913	CCDS10263.1	15q23	2014-03-06	2014-03-06		ENSG00000138629	ENSG00000138629			28221	protein-coding gene	gene with protein product	"""bone marrow stromal cell-derived ubiquitin-like"", "" ubiquitin-like protein SB132"""	609748	"""ubiquitin-like 7 (bone marrow stromal cell-derived)"""			12644319	Standard	NM_201265		Approved	BMSC-UbP, MGC14421	uc002axy.1	Q96S82	OTTHUMG00000139001		15.37:g.74753949C>G	Exception_encountered		D3DW57|Q96I03	RNA	SNP	-	NULL	ENST00000567435.1	37	NULL	CCDS10263.1	15																																																																																			RP11-10O17.2	-	-		0.592	UBL7-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC440288	Clone_based_vega_gene	protein_coding	OTTHUMT00000419627.1	C	NM_032907, NM_201265		74753949	+1	no_errors	ENST00000499217	ensembl	human	known	70_37	rna	SNP	0.000	G
UBL7-AS1	440288	genome.wustl.edu	37	15	74758431	74758431	+	RNA	SNP	C	C	T	rs372464232		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:74758431C>T	ENST00000564621.1	+	0	818				UBL7-AS1_ENST00000568853.1_RNA|UBL7-AS1_ENST00000499217.2_RNA|UBL7-AS1_ENST00000567286.1_RNA|UBL7-AS1_ENST00000564137.1_RNA	NR_038448.1				UBL7 antisense RNA 1 (head to head)																		caggttcaagcgattctcctg	0.463																																																	0																																												440288					15q24.1	2013-05-24	2013-05-24		ENSG00000247240	ENSG00000247240		"""Long non-coding RNAs"""	48614	non-coding RNA	RNA, long non-coding							Standard	NR_038448		Approved				OTTHUMG00000172644		15.37:g.74758431C>T				RNA	SNP	-	NULL	ENST00000564621.1	37	NULL		15																																																																																			RP11-10O17.2	-	-		0.463	UBL7-AS1-002	KNOWN	basic	antisense	LOC440288	Clone_based_vega_gene	antisense	OTTHUMT00000419640.1	C			74758431	+1	no_errors	ENST00000499217	ensembl	human	known	70_37	rna	SNP	0.022	T
LPHN2	23266	genome.wustl.edu	37	1	82433881	82433881	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:82433881G>T	ENST00000370728.1	+	16	3154	c.2509G>T	c.(2509-2511)Gca>Tca	p.A837S	LPHN2_ENST00000370725.1_Missense_Mutation_p.A837S|LPHN2_ENST00000370723.1_Missense_Mutation_p.A824S|LPHN2_ENST00000271029.4_Missense_Mutation_p.A837S|LPHN2_ENST00000370727.1_Missense_Mutation_p.A837S|LPHN2_ENST00000359929.3_Missense_Mutation_p.A824S|LPHN2_ENST00000370713.1_Missense_Mutation_p.A824S|LPHN2_ENST00000370721.1_Missense_Mutation_p.A762S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370717.2_Missense_Mutation_p.A837S|LPHN2_ENST00000319517.6_Missense_Mutation_p.A824S|LPHN2_ENST00000370715.1_Missense_Mutation_p.A824S|LPHN2_ENST00000394879.1_Missense_Mutation_p.A824S|LPHN2_ENST00000370730.1_Missense_Mutation_p.A837S|LPHN2_ENST00000335786.5_Missense_Mutation_p.A837S			O95490	LPHN2_HUMAN	latrophilin 2	837					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CAGGGAAATTGCAGTAAGTAT	0.418																																																	0													88.0	88.0	88.0					1																	82433881		2203	4300	6503	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2509G>T	1.37:g.82433881G>T	ENSP00000359763:p.Ala837Ser		A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.A837S	ENST00000370728.1	37	c.2509		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.299|7.299	0.612701|0.612701	0.14066|0.14066	.|.	.|.	ENSG00000117114|ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786|ENST00000449420	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.68025|.	-0.27;-0.3;-0.3;-0.23;-0.23;-0.18;-0.25;-0.25;-0.25;-0.25;-0.23;-0.18;-0.23;-0.3|.	5.41|5.41	4.49|4.49	0.54785|0.54785	.|.	0.607362|.	0.17634|.	N|.	0.167280|.	T|T	0.10680|0.10680	0.0261|0.0261	N|N	0.03903|0.03903	-0.33|-0.33	0.31283|0.31283	N|N	0.690349|0.690349	B;B;B|.	0.10296|.	0.001;0.003;0.0|.	B;B;B|.	0.11329|.	0.002;0.006;0.001|.	T|T	0.23154|0.23154	-1.0196|-1.0196	10|5	0.10902|.	T|.	0.67|.	.|.	15.6434|15.6434	0.77025|0.77025	0.0:0.0:0.8617:0.1383|0.0:0.0:0.8617:0.1383	.|.	824;824;824|.	O95490-3;O95490-4;O95490-2|.	.;.;.|.	S|F	762;837;837;837;837;824;824;824;824;824;837;824;837;837|704	ENSP00000359756:A762S;ENSP00000359763:A837S;ENSP00000359765:A837S;ENSP00000359762:A837S;ENSP00000359760:A837S;ENSP00000359758:A824S;ENSP00000353006:A824S;ENSP00000359750:A824S;ENSP00000359748:A824S;ENSP00000322270:A824S;ENSP00000359752:A837S;ENSP00000378344:A824S;ENSP00000271029:A837S;ENSP00000337306:A837S|.	ENSP00000271029:A837S|.	A|L	+|+	1|3	0|2	LPHN2|LPHN2	82206469|82206469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.978000|0.978000	0.69477|0.69477	2.920000|2.920000	0.48844|0.48844	1.270000|1.270000	0.44297|0.44297	0.585000|0.585000	0.79938|0.79938	GCA|TTG	LPHN2	-	NULL		0.418	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	HGNC	protein_coding	OTTHUMT00000027188.1	G	NM_012302		82433881	+1	no_errors	ENST00000370717	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC18	474354	genome.wustl.edu	37	10	50121493	50121493	+	Silent	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:50121493G>T	ENST00000374160.3	-	1	784	c.708C>A	c.(706-708)atC>atA	p.I236I	WDFY4_ENST00000413659.2_Intron|RP11-523O18.7_ENST00000430438.1_RNA|LRRC18_ENST00000298124.3_Silent_p.I236I|WDFY4_ENST00000325239.5_Intron	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	236						cytoplasm (GO:0005737)				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GATTGGGAAAGATGGTCTTTC	0.527																																																	0													204.0	205.0	205.0					10																	50121493		2203	4300	6503	SO:0001819	synonymous_variant	474354			AY358137	CCDS31197.1	10q11.23	2011-02-10			ENSG00000165383	ENSG00000165383			23199	protein-coding gene	gene with protein product							Standard	NM_001006939		Approved	UNQ933, MGC34773, UNQ9338, VKGE9338	uc001jhd.3	Q8N456	OTTHUMG00000018182	ENST00000374160.3:c.708C>A	10.37:g.50121493G>T			Q6UY02	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.I236	ENST00000374160.3	37	c.708	CCDS31197.1	10																																																																																			LRRC18	-	NULL		0.527	LRRC18-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC18	HGNC	protein_coding	OTTHUMT00000047964.1	G	NM_001006939		50121493	-1	no_errors	ENST00000374160	ensembl	human	known	70_37	silent	SNP	0.142	T
LRRC4C	57689	genome.wustl.edu	37	11	40136938	40136938	+	Missense_Mutation	SNP	G	G	T	rs373629997		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:40136938G>T	ENST00000278198.2	-	2	2868	c.905C>A	c.(904-906)cCt>cAt	p.P302H	LRRC4C_ENST00000527150.1_Missense_Mutation_p.P302H|LRRC4C_ENST00000528697.1_Missense_Mutation_p.P302H|LRRC4C_ENST00000530763.1_Missense_Mutation_p.P302H			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	302	LRRCT.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ACAGTTCCAAGGGTTGTGATG	0.478																																																	0													163.0	136.0	145.0					11																	40136938		2203	4300	6503	SO:0001583	missense	57689			AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.905C>A	11.37:g.40136938G>T	ENSP00000278198:p.Pro302His		A8K0T1|Q7L0N3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.P302H	ENST00000278198.2	37	c.905	CCDS31464.1	11	.	.	.	.	.	.	.	.	.	.	G	17.14	3.314542	0.60524	.	.	ENSG00000148948	ENST00000278198;ENST00000527150;ENST00000528697;ENST00000530763	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.75	5.75	0.90469	Cysteine-rich flanking region, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	H	0.97940	4.11	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64253	-0.6451	10	0.87932	D	0	.	18.9424	0.92610	0.0:0.0:1.0:0.0	.	302	Q9HCJ2	LRC4C_HUMAN	H	302	ENSP00000278198:P302H;ENSP00000436976:P302H;ENSP00000437132:P302H;ENSP00000434761:P302H	ENSP00000278198:P302H	P	-	2	0	LRRC4C	40093514	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.728000	0.93425	0.650000	0.86243	CCT	LRRC4C	-	NULL		0.478	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	LRRC4C	HGNC	protein_coding	OTTHUMT00000389499.1	G	NM_020929		40136938	-1	no_errors	ENST00000527150	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC53	100144878	genome.wustl.edu	37	1	74936335	74936335	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:74936335C>A	ENST00000294635.4	-	5	3085	c.2971G>T	c.(2971-2973)Gaa>Taa	p.E991*	FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000326637.3_Intron|RP4-650F12.2_ENST00000442876.1_RNA|RP4-650F12.2_ENST00000411417.1_RNA|TNNI3K_ENST00000370891.2_Intron			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	991						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						ACATCATTTTCTTCCTTATCC	0.294																																																	0																																										SO:0001587	stop_gained	100144878					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.2971G>T	1.37:g.74936335C>A	ENSP00000294635:p.Glu991*			Nonsense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E991*	ENST00000294635.4	37	c.2971		1																																																																																			LRRC53	-	NULL		0.294	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	HGNC	protein_coding	OTTHUMT00000026515.2	C			74936335	-1	no_errors	ENST00000294635	ensembl	human	known	70_37	nonsense	SNP	0.005	A
MAGI1	9223	genome.wustl.edu	37	3	65859283	65859283	+	Intron	SNP	A	A	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:65859283A>C	ENST00000497477.2	-	1	313				MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000483466.1_Intron|MAGI1_ENST00000470990.1_Intron|MAGI1-IT1_ENST00000460754.1_RNA|MAGI1_ENST00000402939.2_Intron			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1						cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TTGCATTATTACATTATTACA	0.418																																																	0																																										SO:0001627	intron_variant	151877			AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.313+164387T>G	3.37:g.65859283A>C			A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	RNA	SNP	-	NULL	ENST00000497477.2	37	NULL		3																																																																																			MAGI1-IT1	-	-		0.418	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	MAGI1-IT1	HGNC	protein_coding	OTTHUMT00000349132.2	A	NM_004742		65859283	-1	no_errors	ENST00000460754	ensembl	human	known	70_37	rna	SNP	0.035	C
MAP1B	4131	genome.wustl.edu	37	5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	rs372421201		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:71493006G>A	ENST00000296755.7	+	5	4122	c.3824G>A	c.(3823-3825)cGt>cAt	p.R1275H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1275H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0				Melanoma(17;367 822 11631 31730 47712)												1	Substitution - Missense(1)	prostate(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	64.0	64.0		3824	5.8	1.0	5		64	0,8600		0,0,4300	no	missense	MAP1B	NM_005909.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1275/2469	71493006	1,13005	2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3824G>A	5.37:g.71493006G>A	ENSP00000296755:p.Arg1275His		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R1275H	ENST00000296755.7	37	c.3824	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976924	0.53720	2.27E-4	0.0	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.07458	0.0188	N	0.08118	0	0.47153	D	0.999338	D;D	0.76494	0.999;0.998	P;P	0.61275	0.886;0.862	T	0.52208	-0.8606	10	0.56958	D	0.05	-10.8595	20.032	0.97543	0.0:0.0:1.0:0.0	.	1149;1275	A2BDK6;P46821	.;MAP1B_HUMAN	H	1275	ENSP00000296755:R1275H	ENSP00000296755:R1275H	R	+	2	0	MAP1B	71528762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.924000	0.56476	2.743000	0.94032	0.655000	0.94253	CGT	MAP1B	-	NULL		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71493006	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.999	A
MAP1B	4131	genome.wustl.edu	37	5	71493006	71493006	+	Missense_Mutation	SNP	G	G	A	rs372421201		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:71493006G>A	ENST00000296755.7	+	5	4122	c.3824G>A	c.(3823-3825)cGt>cAt	p.R1275H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1275					axon extension (GO:0048675)|cellular process (GO:0009987)|dendrite development (GO:0016358)|establishment of monopolar cell polarity (GO:0061162)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|positive regulation of axon extension (GO:0045773)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|plasma membrane (GO:0005886)|synapse (GO:0045202)	structural molecule activity (GO:0005198)	p.R1275H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGGGTGAACGTAGTGTGAAC	0.517													G|||	1	0.000199681	0.0008	0.0	5008	,	,		20810	0.0		0.0	False		,,,				2504	0.0				Melanoma(17;367 822 11631 31730 47712)												1	Substitution - Missense(1)	prostate(1)						G	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	64.0	64.0	64.0		3824	5.8	1.0	5		64	0,8600		0,0,4300	no	missense	MAP1B	NM_005909.3	29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1275/2469	71493006	1,13005	2203	4300	6503	SO:0001583	missense	4131			L06237	CCDS4012.1	5q13	2014-06-12			ENSG00000131711	ENSG00000131711			6836	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 102"""	157129				1881920	Standard	NM_005909		Approved	MAP5, PPP1R102	uc003kbw.4	P46821	OTTHUMG00000100952	ENST00000296755.7:c.3824G>A	5.37:g.71493006G>A	ENSP00000296755:p.Arg1275His		A2BDK5	Missense_Mutation	SNP	pfam_MAP1B_neuraxin	p.R1275H	ENST00000296755.7	37	c.3824	CCDS4012.1	5	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976924	0.53720	2.27E-4	0.0	ENSG00000131711	ENST00000296755	T	0.03524	3.9	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000004	T	0.07458	0.0188	N	0.08118	0	0.47153	D	0.999338	D;D	0.76494	0.999;0.998	P;P	0.61275	0.886;0.862	T	0.52208	-0.8606	10	0.56958	D	0.05	-10.8595	20.032	0.97543	0.0:0.0:1.0:0.0	.	1149;1275	A2BDK6;P46821	.;MAP1B_HUMAN	H	1275	ENSP00000296755:R1275H	ENSP00000296755:R1275H	R	+	2	0	MAP1B	71528762	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.924000	0.56476	2.743000	0.94032	0.655000	0.94253	CGT	MAP1B	-	NULL		0.517	MAP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1B	HGNC	protein_coding	OTTHUMT00000218561.6	G	NM_005909		71493006	+1	no_errors	ENST00000296755	ensembl	human	known	70_37	missense	SNP	0.999	A
MFSD12	126321	genome.wustl.edu	37	19	3550984	3550984	+	Silent	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:3550984G>T	ENST00000355415.2	-	2	676	c.507C>A	c.(505-507)ctC>ctA	p.L169L	MFSD12_ENST00000591878.1_5'UTR|MFSD12_ENST00000398558.4_Silent_p.L169L|MFSD12_ENST00000389395.3_Silent_p.L169L|AC005786.7_ENST00000589360.1_RNA	NM_174983.3	NP_778148.2	Q6NUT3	MFS12_HUMAN	major facilitator superfamily domain containing 12	169					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)				cervix(1)|endometrium(2)|lung(4)|urinary_tract(2)	9						GCTCCCACCTGAGTGCCGTGA	0.637																																																	0													14.0	16.0	15.0					19																	3550984		1957	4125	6082	SO:0001819	synonymous_variant	126321			AF218008	CCDS42465.1, CCDS74256.1	19p13.3	2012-03-09	2011-11-24	2011-11-24	ENSG00000161091	ENSG00000161091			28299	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 28"""	C19orf28		12477932	Standard	NM_174983		Approved	MGC20700, PP3501	uc002lxw.3	Q6NUT3		ENST00000355415.2:c.507C>A	19.37:g.3550984G>T			A8MXP7|D6W615|E9PAJ8|Q8N459	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L169	ENST00000355415.2	37	c.507	CCDS42465.1	19																																																																																			MFSD12	-	superfamily_MFS_dom_general_subst_transpt		0.637	MFSD12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MFSD12	HGNC	protein_coding	OTTHUMT00000452949.2	G	NM_174983		3550984	-1	no_errors	ENST00000398558	ensembl	human	known	70_37	silent	SNP	1.000	T
GNAS-AS1	149775	genome.wustl.edu	37	20	57392249	57392249	+	RNA	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:57392249A>G	ENST00000424094.2	-	0	2312				MIR298_ENST00000401212.1_RNA|MIR296_ENST00000385215.1_lincRNA	NR_002785.2				GNAS antisense RNA 1																		caagctggacaacgtaacaat	0.542																																																	0																																												407022			AJ251759		20q13.32	2012-10-19	2012-08-15	2010-11-25	ENSG00000235590	ENSG00000235590		"""Long non-coding RNAs"", ""-"""	24872	non-coding RNA	RNA, long non-coding	"""GNAS antisense"", ""non-protein coding RNA 75"""	610540	"""GNAS antisense RNA (non-protein coding)"", ""GNAS antisense RNA 1 (non-protein coding)"""	GNASAS, GNAS-AS		10749992	Standard	NR_002785		Approved	SANG, NESP-AS, NESPAS, GNAS1AS, NCRNA00075	uc002xzs.2		OTTHUMG00000060481		20.37:g.57392249A>G				RNA	SNP	-	NULL	ENST00000424094.2	37	NULL		20																																																																																			hsa-mir-296	-	-		0.542	GNAS-AS1-001	KNOWN	basic	antisense	MIR296	miRBase	antisense	OTTHUMT00000133891.2	A	NR_002785		57392249	-1	no_errors	ENST00000596276	ensembl	human	known	70_37	rna	SNP	0.000	G
MMEL1	79258	genome.wustl.edu	37	1	2538416	2538416	+	Missense_Mutation	SNP	C	C	T	rs374379604		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:2538416C>T	ENST00000378412.3	-	7	789	c.628G>A	c.(628-630)Gta>Ata	p.V210I	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.V201I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	210						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCCTTACCTACGGTCTCGTTC	0.642																																																	0									ILE/VAL	0,4406		0,0,2203	79.0	74.0	76.0		628	-7.3	0.0	1		76	1,8599		0,1,4299	no	missense	MMEL1	NM_033467.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	210/780	2538416	1,13005	2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.628G>A	1.37:g.2538416C>T	ENSP00000367668:p.Val210Ile		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V210I	ENST00000378412.3	37	c.628	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	N	10.24	1.296796	0.23650	0.0	1.16E-4	ENSG00000142606	ENST00000288709;ENST00000378412	D;D	0.81739	-1.53;-1.53	4.71	-7.26	0.01466	Peptidase M13 (1);	0.983219	0.08353	N	0.958902	T	0.64638	0.2616	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47407	-0.9120	10	0.29301	T	0.29	.	7.501	0.27518	0.0:0.3905:0.1165:0.4929	.	210	Q495T6	MMEL1_HUMAN	I	201;210	ENSP00000288709:V201I;ENSP00000367668:V210I	ENSP00000288709:V201I	V	-	1	0	MMEL1	2528276	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.764000	0.04735	-1.750000	0.01328	-1.830000	0.00593	GTA	MMEL1	-	pfam_Peptidase_M13_N		0.642	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2538416	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	0.000	T
MMEL1	79258	genome.wustl.edu	37	1	2538416	2538416	+	Missense_Mutation	SNP	C	C	T	rs374379604		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:2538416C>T	ENST00000378412.3	-	7	789	c.628G>A	c.(628-630)Gta>Ata	p.V210I	MMEL1_ENST00000502556.1_Intron|MMEL1_ENST00000288709.6_Missense_Mutation_p.V201I			Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	210						endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		GCCTTACCTACGGTCTCGTTC	0.642																																																	0									ILE/VAL	0,4406		0,0,2203	79.0	74.0	76.0		628	-7.3	0.0	1		76	1,8599		0,1,4299	no	missense	MMEL1	NM_033467.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	210/780	2538416	1,13005	2203	4300	6503	SO:0001583	missense	79258			AF336981	CCDS30569.1, CCDS30569.2	1p36	2008-02-05			ENSG00000142606	ENSG00000142606			14668	protein-coding gene	gene with protein product			"""membrane metallo-endopeptidase-like 2"""	MMEL2			Standard	NM_033467		Approved	SEP, NL1, NL2, NEPII	uc001ajy.2	Q495T6	OTTHUMG00000000846	ENST00000378412.3:c.628G>A	1.37:g.2538416C>T	ENSP00000367668:p.Val210Ile		B9DI79|Q495T7|Q495T8|Q5SZS6|Q96PH9	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.V210I	ENST00000378412.3	37	c.628	CCDS30569.2	1	.	.	.	.	.	.	.	.	.	.	N	10.24	1.296796	0.23650	0.0	1.16E-4	ENSG00000142606	ENST00000288709;ENST00000378412	D;D	0.81739	-1.53;-1.53	4.71	-7.26	0.01466	Peptidase M13 (1);	0.983219	0.08353	N	0.958902	T	0.64638	0.2616	L	0.34521	1.04	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.47407	-0.9120	10	0.29301	T	0.29	.	7.501	0.27518	0.0:0.3905:0.1165:0.4929	.	210	Q495T6	MMEL1_HUMAN	I	201;210	ENSP00000288709:V201I;ENSP00000367668:V210I	ENSP00000288709:V201I	V	-	1	0	MMEL1	2528276	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.764000	0.04735	-1.750000	0.01328	-1.830000	0.00593	GTA	MMEL1	-	pfam_Peptidase_M13_N		0.642	MMEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMEL1	HGNC	protein_coding	OTTHUMT00000002395.2	C	NM_033467		2538416	-1	no_errors	ENST00000378412	ensembl	human	known	70_37	missense	SNP	0.000	T
MZT2B	80097	genome.wustl.edu	37	2	130939993	130939993	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:130939993G>A	ENST00000281871.6	+	1	493	c.138G>A	c.(136-138)gcG>gcA	p.A46A	SMPD4_ENST00000431183.2_5'UTR|SMPD4_ENST00000409031.1_5'UTR|SMPD4_ENST00000473720.1_5'Flank|AC018804.1_ENST00000578074.1_RNA|SMPD4_ENST00000339679.7_5'Flank|MZT2B_ENST00000409255.1_Silent_p.A46A|SMPD4_ENST00000452225.2_5'Flank|SMPD4_ENST00000453750.1_5'Flank|SMPD4_ENST00000443958.2_5'Flank|SMPD4_ENST00000351288.6_5'Flank|SMPD4_ENST00000426662.2_5'Flank	NM_025029.3	NP_079305.2	Q6NZ67	MZT2B_HUMAN	mitotic spindle organizing protein 2B	46						centrosome (GO:0005813)|gamma-tubulin ring complex (GO:0008274)|spindle (GO:0005819)				lung(1)	1						TGGCGCAGGCGGCGGGCGGCG	0.731																																																	0													7.0	11.0	10.0					2																	130939993		2131	4183	6314	SO:0001819	synonymous_variant	80097			BC066296	CCDS2157.1	2q21.1	2013-10-11	2010-07-22	2010-07-22	ENSG00000152082	ENSG00000152082			25886	protein-coding gene	gene with protein product	"""mitotic-spindle organizing protein associated with a ring of gamma-tubulin 2B"""	613450	"""family with sequence similarity 128, member B"""	FAM128B		20360068	Standard	NM_025029		Approved	FLJ14346, MOZART2B	uc002tqu.3	Q6NZ67	OTTHUMG00000131625	ENST00000281871.6:c.138G>A	2.37:g.130939993G>A			Q96CG4	Silent	SNP	NULL	p.A46	ENST00000281871.6	37	c.138	CCDS2157.1	2																																																																																			MZT2B	-	NULL		0.731	MZT2B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MZT2B	HGNC	protein_coding	OTTHUMT00000254518.1	G	NM_025029		130939993	+1	no_errors	ENST00000281871	ensembl	human	known	70_37	silent	SNP	0.931	A
HAND2-AS1	79804	genome.wustl.edu	37	4	174506151	174506151	+	RNA	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:174506151C>A	ENST00000512099.1	+	0	4276				HAND2-AS1_ENST00000512929.1_RNA|HAND2-AS1_ENST00000505817.1_RNA|HAND2-AS1_ENST00000510268.1_RNA|HAND2-AS1_ENST00000512943.1_RNA|HAND2-AS1_ENST00000504740.1_RNA|HAND2-AS1_ENST00000503474.1_RNA|HAND2-AS1_ENST00000515376.1_RNA|HAND2-AS1_ENST00000514431.1_RNA|HAND2-AS1_ENST00000512209.2_RNA					HAND2 antisense RNA 1 (head to head)																		TCCTTCTAGGCACTATTCTAA	0.343																																																	0																																												79804					4q34.1	2013-07-16			ENSG00000237125	ENSG00000237125		"""Long non-coding RNAs"""	48872	non-coding RNA	RNA, long non-coding	"""neuroblastoma transcript 301"", ""differentially expressed in neuroblastoma"""					18171985, 19348682	Standard	NR_003679		Approved	DEIN, NBLA00301, FLJ11539			OTTHUMG00000160783		4.37:g.174506151C>A				RNA	SNP	-	NULL	ENST00000512099.1	37	NULL		4																																																																																			RP11-471J12.1	-	-		0.343	HAND2-AS1-001	KNOWN	basic	antisense	NBLA00301	Clone_based_vega_gene	antisense	OTTHUMT00000362294.1	C			174506151	+1	no_errors	ENST00000503474	ensembl	human	known	70_37	rna	SNP	0.000	A
NIPSNAP3B	55335	genome.wustl.edu	37	9	107531250	107531250	+	Silent	SNP	G	G	A	rs146813577		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:107531250G>A	ENST00000374762.3	+	3	449	c.378G>A	c.(376-378)acG>acA	p.T126T	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	126										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AACAAGAGACGGAAATTACTT	0.383																																																	0													81.0	77.0	78.0					9																	107531250		2203	4300	6503	SO:0001819	synonymous_variant	55335			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.378G>A	9.37:g.107531250G>A			Q5VX30|Q9NUM2	Silent	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.T126	ENST00000374762.3	37	c.378	CCDS6761.1	9																																																																																			NIPSNAP3B	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.383	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP3B	HGNC	protein_coding	OTTHUMT00000053486.1	G	NM_018376		107531250	+1	no_errors	ENST00000374762	ensembl	human	known	70_37	silent	SNP	0.000	A
NIPSNAP3B	55335	genome.wustl.edu	37	9	107531250	107531250	+	Silent	SNP	G	G	A	rs146813577		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:107531250G>A	ENST00000374762.3	+	3	449	c.378G>A	c.(376-378)acG>acA	p.T126T	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	126										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						AACAAGAGACGGAAATTACTT	0.383																																																	0													81.0	77.0	78.0					9																	107531250		2203	4300	6503	SO:0001819	synonymous_variant	55335			BC017914	CCDS6761.1	9q31.3	2003-11-27			ENSG00000165028	ENSG00000165028			23641	protein-coding gene	gene with protein product		608872				12477932	Standard	NM_018376		Approved	FLJ11275	uc004bci.3	Q9BS92	OTTHUMG00000020414	ENST00000374762.3:c.378G>A	9.37:g.107531250G>A			Q5VX30|Q9NUM2	Silent	SNP	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel	p.T126	ENST00000374762.3	37	c.378	CCDS6761.1	9																																																																																			NIPSNAP3B	-	pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel		0.383	NIPSNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPSNAP3B	HGNC	protein_coding	OTTHUMT00000053486.1	G	NM_018376		107531250	+1	no_errors	ENST00000374762	ensembl	human	known	70_37	silent	SNP	0.000	A
NEK6	10783	genome.wustl.edu	37	9	127076209	127076209	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:127076209A>T	ENST00000320246.5	+	4	384	c.239A>T	c.(238-240)gAg>gTg	p.E80V	NEK6_ENST00000373603.1_Missense_Mutation_p.E80V|NEK6_ENST00000540326.1_Missense_Mutation_p.E98V|NEK6_ENST00000373600.3_Missense_Mutation_p.E114V|NEK6_ENST00000539416.1_Missense_Mutation_p.E105V|NEK6_ENST00000546191.1_Missense_Mutation_p.E80V|NEK6_ENST00000394199.2_Missense_Mutation_p.E114V|NEK6_ENST00000545174.1_Missense_Mutation_p.E80V	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						AAGATCTTTGAGATGATGGAC	0.582																																					NSCLC(122;934 1785 18647 44295 45571)												0													72.0	68.0	69.0					9																	127076209		2203	4300	6503	SO:0001583	missense	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.239A>T	9.37:g.127076209A>T	ENSP00000319734:p.Glu80Val		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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.E114V	ENST00000320246.5	37	c.341	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248183	0.59103	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000545174;ENST00000444973;ENST00000373596;ENST00000425237;ENST00000423785;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052253	0.85682	D	0.000000	T	0.70002	0.3174	N	0.26042	0.785	0.80722	D	1	D;D;D;D	0.57257	0.977;0.973;0.979;0.973	P;P;P;P	0.62382	0.886;0.886;0.901;0.848	T	0.73902	-0.3836	10	0.66056	D	0.02	.	14.4588	0.67435	1.0:0.0:0.0:0.0	.	105;114;80;98	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	V	80;98;114;80;80;80;80;80;114;114;80;80;105;80	ENSP00000362705:E80V;ENSP00000441469:E98V;ENSP00000362702:E114V;ENSP00000319734:E80V;ENSP00000442636:E80V;ENSP00000389517:E80V;ENSP00000362698:E80V;ENSP00000403087:E80V;ENSP00000399847:E114V;ENSP00000377749:E114V;ENSP00000441426:E80V;ENSP00000411401:E80V;ENSP00000439651:E105V;ENSP00000403414:E80V	ENSP00000319734:E80V	E	+	2	0	NEK6	126116030	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	8.663000	0.91134	2.008000	0.58898	0.533000	0.62120	GAG	NEK6	-	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		0.582	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	A	NM_014397		127076209	+1	no_errors	ENST00000373600	ensembl	human	known	70_37	missense	SNP	1.000	T
NEK6	10783	genome.wustl.edu	37	9	127076209	127076209	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:127076209A>T	ENST00000320246.5	+	4	384	c.239A>T	c.(238-240)gAg>gTg	p.E80V	NEK6_ENST00000373603.1_Missense_Mutation_p.E80V|NEK6_ENST00000540326.1_Missense_Mutation_p.E98V|NEK6_ENST00000373600.3_Missense_Mutation_p.E114V|NEK6_ENST00000539416.1_Missense_Mutation_p.E105V|NEK6_ENST00000546191.1_Missense_Mutation_p.E80V|NEK6_ENST00000394199.2_Missense_Mutation_p.E114V|NEK6_ENST00000545174.1_Missense_Mutation_p.E80V	NM_014397.5	NP_055212.2	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	80	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|G2 DNA damage checkpoint (GO:0031572)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cellular senescence (GO:2000772)|regulation of mitotic cell cycle (GO:0007346)|regulation of mitotic metaphase/anaphase transition (GO:0030071)|signal transduction (GO:0007165)|spindle assembly (GO:0051225)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule (GO:0005874)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinesin binding (GO:0019894)|magnesium ion binding (GO:0000287)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						AAGATCTTTGAGATGATGGAC	0.582																																					NSCLC(122;934 1785 18647 44295 45571)												0													72.0	68.0	69.0					9																	127076209		2203	4300	6503	SO:0001583	missense	10783			AF087909	CCDS6854.1, CCDS48015.1, CCDS55338.1, CCDS55339.1	9q33.3-q34.11	2012-11-15	2012-11-15		ENSG00000119408	ENSG00000119408			7749	protein-coding gene	gene with protein product	"""putative serine-threonine protein kinase"""	604884	"""NIMA (never in mitosis gene a)-related kinase 6"""			10702691	Standard	NM_001145001		Approved	SID6-1512	uc004boh.3	Q9HC98	OTTHUMG00000020650	ENST00000320246.5:c.239A>T	9.37:g.127076209A>T	ENSP00000319734:p.Glu80Val		B7Z2D9|Q5TBG3|Q5TBG9|Q6FG86|Q6IAR3|Q96E83|Q9ULX2	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.E114V	ENST00000320246.5	37	c.341	CCDS6854.1	9	.	.	.	.	.	.	.	.	.	.	A	16.89	3.248183	0.59103	.	.	ENSG00000119408	ENST00000373603;ENST00000540326;ENST00000373600;ENST00000320246;ENST00000545174;ENST00000444973;ENST00000373596;ENST00000425237;ENST00000423785;ENST00000394199;ENST00000546191;ENST00000422297;ENST00000539416;ENST00000447379	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	5.31	5.31	0.75309	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.052253	0.85682	D	0.000000	T	0.70002	0.3174	N	0.26042	0.785	0.80722	D	1	D;D;D;D	0.57257	0.977;0.973;0.979;0.973	P;P;P;P	0.62382	0.886;0.886;0.901;0.848	T	0.73902	-0.3836	10	0.66056	D	0.02	.	14.4588	0.67435	1.0:0.0:0.0:0.0	.	105;114;80;98	Q9HC98-4;Q9HC98-2;Q9HC98;Q9HC98-3	.;.;NEK6_HUMAN;.	V	80;98;114;80;80;80;80;80;114;114;80;80;105;80	ENSP00000362705:E80V;ENSP00000441469:E98V;ENSP00000362702:E114V;ENSP00000319734:E80V;ENSP00000442636:E80V;ENSP00000389517:E80V;ENSP00000362698:E80V;ENSP00000403087:E80V;ENSP00000399847:E114V;ENSP00000377749:E114V;ENSP00000441426:E80V;ENSP00000411401:E80V;ENSP00000439651:E105V;ENSP00000403414:E80V	ENSP00000319734:E80V	E	+	2	0	NEK6	126116030	1.000000	0.71417	1.000000	0.80357	0.068000	0.16541	8.663000	0.91134	2.008000	0.58898	0.533000	0.62120	GAG	NEK6	-	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		0.582	NEK6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK6	HGNC	protein_coding	OTTHUMT00000054016.1	A	NM_014397		127076209	+1	no_errors	ENST00000373600	ensembl	human	known	70_37	missense	SNP	1.000	T
NRG1	3084	genome.wustl.edu	37	8	32606549	32606549	+	Intron	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:32606549C>A	ENST00000405005.3	+	8	700				NRG1_ENST00000523079.1_Intron|NRG1_ENST00000338921.4_Intron|NRG1_ENST00000523681.1_3'UTR|NRG1_ENST00000287842.3_Intron|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000341377.5_Intron|NRG1_ENST00000539990.1_Intron|NRG1_ENST00000356819.4_Intron|NRG1_ENST00000521670.1_Intron			Q02297	NRG1_HUMAN	neuregulin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TACCCACAATCAAAAATCCAA	0.383																																																	0																																										SO:0001627	intron_variant	3084			L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.701-5341C>A	8.37:g.32606549C>A			A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	RNA	SNP	-	NULL	ENST00000405005.3	37	NULL	CCDS6085.1	8																																																																																			NRG1	-	-		0.383	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	NRG1	HGNC	protein_coding	OTTHUMT00000472504.1	C			32606549	+1	no_errors	ENST00000523681	ensembl	human	known	70_37	rna	SNP	0.000	A
NT5DC2	64943	genome.wustl.edu	37	3	52568558	52568558	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:52568558C>G	ENST00000307076.4	-	1	512	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000422318.2_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000476842.1_5'Flank|NT5DC2_ENST00000307092.4_5'Flank|SMIM4_ENST00000307106.3_5'Flank|SMIM4_ENST00000477703.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	38							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCCGTCAACTCCCGGTTTCCC	0.622																																																	0													99.0	95.0	97.0					3																	52568558		2203	4300	6503	SO:0001583	missense	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.112G>C	3.37:g.52568558C>G	ENSP00000302468:p.Glu38Gln		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E38Q	ENST00000307076.4	37	c.112	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675267	0.14841	.	.	ENSG00000168268	ENST00000307076	T	0.22945	1.93	2.27	-0.82	0.10826	.	0.638835	0.14498	U	0.315948	T	0.08714	0.0216	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	10	0.14656	T	0.56	.	2.1924	0.03903	0.2478:0.4364:0.0:0.3158	.	38	Q9H857	NT5D2_HUMAN	Q	38	ENSP00000302468:E38Q	ENSP00000302468:E38Q	E	-	1	0	NT5DC2	52543598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.229000	0.17833	-0.243000	0.09653	-0.251000	0.11542	GAG	NT5DC2	-	pirsf_Pur_nucleotidase		0.622	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	C	NM_022908		52568558	-1	no_errors	ENST00000307076	ensembl	human	known	70_37	missense	SNP	0.000	G
NT5DC2	64943	genome.wustl.edu	37	3	52568558	52568558	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:52568558C>G	ENST00000307076.4	-	1	512	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	NT5DC2_ENST00000459839.1_5'Flank|SMIM4_ENST00000482728.1_3'UTR|NT5DC2_ENST00000422318.2_5'Flank|NT5DC2_ENST00000490681.1_5'Flank|SMIM4_ENST00000476842.1_5'Flank|NT5DC2_ENST00000307092.4_5'Flank|SMIM4_ENST00000307106.3_5'Flank|SMIM4_ENST00000477703.1_5'Flank	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	38							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		CCCGTCAACTCCCGGTTTCCC	0.622																																																	0													99.0	95.0	97.0					3																	52568558		2203	4300	6503	SO:0001583	missense	64943			AF131781	CCDS2858.1, CCDS46843.1	3p21.1	2006-02-03			ENSG00000168268	ENSG00000168268			25717	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_022908		Approved	FLJ12442	uc003den.3	Q9H857	OTTHUMG00000158626	ENST00000307076.4:c.112G>C	3.37:g.52568558C>G	ENSP00000302468:p.Glu38Gln		C9JTZ6|E9PAL9|O95888|Q96C80|Q9H9Z8	Missense_Mutation	SNP	pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl	p.E38Q	ENST00000307076.4	37	c.112	CCDS2858.1	3	.	.	.	.	.	.	.	.	.	.	C	7.613	0.675267	0.14841	.	.	ENSG00000168268	ENST00000307076	T	0.22945	1.93	2.27	-0.82	0.10826	.	0.638835	0.14498	U	0.315948	T	0.08714	0.0216	N	0.08118	0	0.09310	N	0.999999	B	0.06786	0.001	B	0.04013	0.001	T	0.31223	-0.9951	10	0.14656	T	0.56	.	2.1924	0.03903	0.2478:0.4364:0.0:0.3158	.	38	Q9H857	NT5D2_HUMAN	Q	38	ENSP00000302468:E38Q	ENSP00000302468:E38Q	E	-	1	0	NT5DC2	52543598	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.229000	0.17833	-0.243000	0.09653	-0.251000	0.11542	GAG	NT5DC2	-	pirsf_Pur_nucleotidase		0.622	NT5DC2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	NT5DC2	HGNC	protein_coding	OTTHUMT00000351509.1	C	NM_022908		52568558	-1	no_errors	ENST00000307076	ensembl	human	known	70_37	missense	SNP	0.000	G
NUFIP1	26747	genome.wustl.edu	37	13	45563518	45563518	+	Silent	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr13:45563518G>T	ENST00000379161.4	-	1	100	c.54C>A	c.(52-54)ccC>ccA	p.P18P	GPALPP1_ENST00000379151.4_5'Flank|GPALPP1_ENST00000361121.2_5'Flank|RP11-321C24.1_ENST00000437748.2_lincRNA	NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	18	Pro-rich.				box C/D snoRNP assembly (GO:0000492)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|RNA processing (GO:0006396)	cytosolic ribosome (GO:0022626)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|pre-snoRNP complex (GO:0070761)|presynaptic active zone (GO:0048786)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)|RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GAGTCAGCTCGGGAGACGCAT	0.632																																																	0													20.0	21.0	21.0					13																	45563518		2203	4298	6501	SO:0001819	synonymous_variant	26747			AF159548	CCDS9393.1	13q14	2008-02-05			ENSG00000083635	ENSG00000083635			8057	protein-coding gene	gene with protein product		604354				10556305, 10894927	Standard	NM_012345		Approved	NUFIP	uc001uzp.2	Q9UHK0	OTTHUMG00000016842	ENST00000379161.4:c.54C>A	13.37:g.45563518G>T			Q8WVM5|Q96SG1	Silent	SNP	pfam_NUFIP1_cons_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P18	ENST00000379161.4	37	c.54	CCDS9393.1	13																																																																																			NUFIP1	-	NULL		0.632	NUFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUFIP1	HGNC	protein_coding	OTTHUMT00000044755.2	G	NM_012345		45563518	-1	no_errors	ENST00000379161	ensembl	human	known	70_37	silent	SNP	0.001	T
OR2L3	391192	genome.wustl.edu	37	1	248224828	248224828	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:248224828C>T	ENST00000359959.3	+	1	845	c.845C>T	c.(844-846)cCa>cTa	p.P282L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCCTCACTCCAATGCTCAAC	0.488																																																	0													90.0	84.0	86.0					1																	248224828		2203	4300	6503	SO:0001583	missense	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.845C>T	1.37:g.248224828C>T	ENSP00000353044:p.Pro282Leu		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282L	ENST00000359959.3	37	c.845	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345790	0.41599	.	.	ENSG00000198128	ENST00000359959	T	0.00337	8.05	2.01	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007921	T	0.01156	0.0038	H	0.95611	3.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.52366	-0.8585	10	0.87932	D	0	.	11.9452	0.52924	0.0:1.0:0.0:0.0	.	282	Q8NG85	OR2L3_HUMAN	L	282	ENSP00000353044:P282L	ENSP00000353044:P282L	P	+	2	0	OR2L3	246291451	0.984000	0.35163	0.320000	0.25306	0.199000	0.23934	5.525000	0.67110	1.119000	0.41883	0.456000	0.33151	CCA	OR2L3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	C	NM_001004687		248224828	+1	no_errors	ENST00000359959	ensembl	human	known	70_37	missense	SNP	0.989	T
OR2L3	391192	genome.wustl.edu	37	1	248224828	248224828	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:248224828C>T	ENST00000359959.3	+	1	845	c.845C>T	c.(844-846)cCa>cTa	p.P282L	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	282						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			ACCCTCACTCCAATGCTCAAC	0.488																																																	0													90.0	84.0	86.0					1																	248224828		2203	4300	6503	SO:0001583	missense	391192			AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.845C>T	1.37:g.248224828C>T	ENSP00000353044:p.Pro282Leu		B9EH44	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P282L	ENST00000359959.3	37	c.845	CCDS31104.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345790	0.41599	.	.	ENSG00000198128	ENST00000359959	T	0.00337	8.05	2.01	2.01	0.26516	GPCR, rhodopsin-like superfamily (1);	0.000000	0.31279	U	0.007921	T	0.01156	0.0038	H	0.95611	3.695	0.58432	D	0.999994	D	0.89917	1.0	D	0.97110	1.0	T	0.52366	-0.8585	10	0.87932	D	0	.	11.9452	0.52924	0.0:1.0:0.0:0.0	.	282	Q8NG85	OR2L3_HUMAN	L	282	ENSP00000353044:P282L	ENSP00000353044:P282L	P	+	2	0	OR2L3	246291451	0.984000	0.35163	0.320000	0.25306	0.199000	0.23934	5.525000	0.67110	1.119000	0.41883	0.456000	0.33151	CCA	OR2L3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.488	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2L3	HGNC	protein_coding	OTTHUMT00000096852.1	C	NM_001004687		248224828	+1	no_errors	ENST00000359959	ensembl	human	known	70_37	missense	SNP	0.989	T
PCSK5	5125	genome.wustl.edu	37	9	78911765	78911765	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:78911765G>T	ENST00000545128.1	+	27	4045	c.3507G>T	c.(3505-3507)gaG>gaT	p.E1169D		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1169	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CCCAGGAGGAGGGCAAATTCT	0.542																																																	0													139.0	128.0	132.0					9																	78911765		876	1991	2867	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3507G>T	9.37:g.78911765G>T	ENSP00000446280:p.Glu1169Asp		F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.E1169D	ENST00000545128.1	37	c.3507	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	G	4.433	0.080073	0.08533	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.28666	1.69;1.6	5.76	3.12	0.35913	.	0.518964	0.19518	N	0.112348	T	0.16769	0.0403	N	0.26092	0.79	0.22562	N	0.998988	.	.	.	.	.	.	T	0.17289	-1.0374	8	0.12766	T	0.61	-17.1053	3.7369	0.08514	0.5793:0.0:0.262:0.1588	.	.	.	.	D	1169;872;842	ENSP00000446280:E1169D;ENSP00000411654:E842D	ENSP00000365945:E872D	E	+	3	2	PCSK5	78101585	0.982000	0.34865	0.942000	0.38095	0.091000	0.18340	0.210000	0.17455	1.022000	0.39626	-0.469000	0.05056	GAG	PCSK5	-	NULL		0.542	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		G			78911765	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.430	T
PER3	8863	genome.wustl.edu	37	1	7880694	7880694	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:7880694G>A	ENST00000361923.2	+	15	2102	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	PER3_ENST00000377532.3_Missense_Mutation_p.E651K|RP3-467L1.4_ENST00000451646.1_RNA	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	643	CSNK1E binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCCCCAGAGACAGGTAC	0.488																																																	0													67.0	58.0	61.0					1																	7880694		2203	4300	6503	SO:0001583	missense	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.1927G>A	1.37:g.7880694G>A	ENSP00000355031:p.Glu643Lys		Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.E643K	ENST00000361923.2	37	c.1927	CCDS89.1	1	.	.	.	.	.	.	.	.	.	.	G	16.20	3.056660	0.55325	.	.	ENSG00000049246	ENST00000377532;ENST00000361923	T;T	0.13778	2.56;2.68	4.43	3.46	0.39613	.	0.056191	0.64402	D	0.000002	T	0.34774	0.0909	M	0.79926	2.475	0.40675	D	0.98225	P;D;D;P	0.67145	0.92;0.994;0.996;0.92	B;P;D;B	0.64776	0.386;0.851;0.929;0.386	T	0.18999	-1.0319	10	0.36615	T	0.2	.	12.9639	0.58473	0.0:0.2247:0.7753:0.0	.	643;651;651;643	A2I2N5;A6H8X0;P56645-2;P56645	.;.;.;PER3_HUMAN	K	651;643	ENSP00000366755:E651K;ENSP00000355031:E643K	ENSP00000355031:E643K	E	+	1	0	PER3	7803281	1.000000	0.71417	0.020000	0.16555	0.014000	0.08584	4.371000	0.59523	0.952000	0.37798	0.561000	0.74099	GAG	PER3	-	NULL		0.488	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	G	NM_016831		7880694	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	missense	SNP	0.920	A
PHLDA3	23612	genome.wustl.edu	37	1	201435540	201435540	+	Intron	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:201435540C>G	ENST00000367311.3	-	2	844				PHLDA3_ENST00000367309.1_Intron|PHLDA3_ENST00000485436.1_Intron|RP11-134G8.8_ENST00000430471.1_lincRNA	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3						anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						CACTTCTCAGCTAAACCCTAA	0.527																																																	0																																										SO:0001627	intron_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.382-234G>C	1.37:g.201435540C>G			B2R5A4|Q53HD6|Q8NBW9	RNA	SNP	-	NULL	ENST00000367311.3	37	NULL	CCDS1412.1	1																																																																																			PHLDA3	-	-		0.527	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	C	NM_012396		201435540	-1	no_errors	ENST00000497057	ensembl	human	putative	70_37	rna	SNP	0.000	G
PI4KAP1	728233	genome.wustl.edu	37	22	20402341	20402341	+	IGR	SNP	A	A	G	rs470943	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr22:20402341A>G								PI4KAP1 (3646 upstream) : snoU13 (31735 downstream)																							GCGCCTCACCAGAGTGCCAAG	0.692													.|||	2281	0.455471	0.4864	0.464	5008	,	,		6153	0.4266		0.5149	False		,,,				2504	0.3763																0																																										SO:0001628	intergenic_variant	728233																															22.37:g.20402341A>G				RNA	SNP	-	NULL		37	NULL		22																																																																																			PI4KAP1	-	-	0	0.692					PI4KAP1	HGNC			A			20402341	-1	no_errors	ENST00000416922	ensembl	human	known	70_37	rna	SNP	1.000	G
PLEKHG5	57449	genome.wustl.edu	37	1	6534167	6534167	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:6534167G>T	ENST00000400915.3	-	8	731	c.665C>A	c.(664-666)tCc>tAc	p.S222Y	PLEKHG5_ENST00000377737.2_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000377748.1_Missense_Mutation_p.S243Y|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.S245Y|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.S203Y|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.S243Y|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.S166Y|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.S235Y|PLEKHG5_ENST00000400913.1_Missense_Mutation_p.S166Y	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	222					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CAAACTCAGGGACTTGGAGTC	0.667																																																	0													33.0	34.0	34.0					1																	6534167		2203	4300	6503	SO:0001583	missense	57449			AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.665C>A	1.37:g.6534167G>T	ENSP00000383706:p.Ser222Tyr		B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S245Y	ENST00000400915.3	37	c.734	CCDS41241.1	1	.	.	.	.	.	.	.	.	.	.	g	18.90	3.721046	0.68959	.	.	ENSG00000171680	ENST00000377748;ENST00000340850;ENST00000400913;ENST00000400915;ENST00000377740;ENST00000377732;ENST00000377728;ENST00000377725;ENST00000535355;ENST00000377737;ENST00000535966;ENST00000537245;ENST00000544978	T;T;T;T;T;T;T;T;T;T;T;T	0.75477	-0.89;-0.88;-0.88;-0.91;-0.71;-0.91;-0.88;-0.88;-0.94;-0.88;-0.9;-0.88	4.07	2.06	0.26882	.	0.246394	0.34435	N	0.003969	T	0.79070	0.4384	L	0.59436	1.845	0.49051	D	0.999747	P;B;P;P;P	0.51791	0.948;0.34;0.913;0.948;0.913	P;B;P;P;P	0.56823	0.807;0.28;0.494;0.807;0.646	T	0.78645	-0.2123	10	0.59425	D	0.04	-16.2436	12.4055	0.55436	0.0:0.3247:0.6753:0.0	.	235;166;243;243;222	F5GZ21;O94827-4;Q5SY18;O94827-2;O94827	.;.;.;.;PKHG5_HUMAN	Y	243;166;166;222;243;203;166;166;235;166;72;245;166	ENSP00000366977:S243Y;ENSP00000344570:S166Y;ENSP00000383704:S166Y;ENSP00000383706:S222Y;ENSP00000366969:S243Y;ENSP00000366961:S203Y;ENSP00000366957:S166Y;ENSP00000366954:S166Y;ENSP00000441445:S235Y;ENSP00000366966:S166Y;ENSP00000439625:S245Y;ENSP00000437710:S166Y	ENSP00000344570:S166Y	S	-	2	0	PLEKHG5	6456754	1.000000	0.71417	0.982000	0.44146	0.914000	0.54420	5.512000	0.67030	0.319000	0.23209	0.500000	0.49745	TCC	PLEKHG5	-	NULL		0.667	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLEKHG5	HGNC	protein_coding	OTTHUMT00000002631.1	G	NM_020631		6534167	-1	no_errors	ENST00000537245	ensembl	human	known	70_37	missense	SNP	0.993	T
PLIN4	729359	genome.wustl.edu	37	19	4511479	4511479	+	Silent	SNP	A	A	T	rs386806133|rs386806132|rs138464610	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:4511479A>T	ENST00000301286.3	-	3	2450	c.2451T>A	c.(2449-2451)acT>acA	p.T817T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	817	27 X 33 AA approximate tandem repeat.					cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CACTGCAGACAGTGTCCTTGG	0.597													a|||	397	0.0792732	0.1377	0.0735	5008	,	,		23517	0.0734		0.0586	False		,,,				2504	0.0317																0													86.0	109.0	102.0					19																	4511479		1995	4194	6189	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.2451T>A	19.37:g.4511479A>T			A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.T817	ENST00000301286.3	37	c.2451	CCDS45927.1	19																																																																																			PLIN4	-	NULL		0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	A	XM_170901		4511479	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	0.000	T
POLR3B	55703	genome.wustl.edu	37	12	106820975	106820975	+	Splice_Site	SNP	C	C	T	rs201079775		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:106820975C>T	ENST00000228347.4	+	13	1324	c.1102C>T	c.(1102-1104)Ctt>Ttt	p.L368F	POLR3B_ENST00000539066.1_Splice_Site_p.L310F|POLR3B_ENST00000549195.1_3'UTR	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	368					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.L368F(4)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						TTTTTTTTAGCTTTTATCTCT	0.274																																																	4	Substitution - Missense(4)	kidney(3)|lung(1)											10.0	11.0	10.0					12																	106820975		2176	4287	6463	SO:0001630	splice_region_variant	55703			AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.1102-1C>T	12.37:g.106820975C>T			A8K6H0|B3KV73|F5H1E6|Q9NW59	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5	p.L368F	ENST00000228347.4	37	c.1102	CCDS9105.1	12	.	.	.	.	.	.	.	.	.	.	C	28.5	4.929826	0.92389	.	.	ENSG00000013503	ENST00000228347;ENST00000551370;ENST00000539066;ENST00000549569;ENST00000549195	T;T;D	0.81996	-1.44;-1.44;-1.56	5.62	5.62	0.85841	RNA polymerase, beta subunit, protrusion (1);	0.000000	0.85682	D	0.000000	D	0.93818	0.8023	H	0.97682	4.055	0.80722	D	1	B	0.33807	0.426	P	0.49597	0.616	D	0.93705	0.7019	9	.	.	.	-18.9461	20.02	0.97489	0.0:1.0:0.0:0.0	.	368	Q9NW08	RPC2_HUMAN	F	368;368;310;126;31	ENSP00000228347:L368F;ENSP00000445721:L310F;ENSP00000448398:L126F	.	L	+	1	0	POLR3B	105345105	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.150000	0.77403	2.809000	0.96659	0.557000	0.71058	CTT	POLR3B	-	pfam_RNA_pol_bsu_protrusion		0.274	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3B	HGNC	protein_coding	OTTHUMT00000407166.1	C	NM_018082	Missense_Mutation	106820975	+1	no_errors	ENST00000228347	ensembl	human	known	70_37	missense	SNP	1.000	T
POLR3F	10621	genome.wustl.edu	37	20	18455810	18455810	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:18455810C>G	ENST00000377603.4	+	5	788	c.408C>G	c.(406-408)atC>atG	p.I136M	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	136					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						AAAAGCTTATCAAAGCTGTTA	0.328																																					GBM(69;898 1468 19907 52011)												0													48.0	51.0	50.0					20																	18455810		2203	4295	6498	SO:0001583	missense	10621			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.408C>G	20.37:g.18455810C>G	ENSP00000366828:p.Ile136Met		A8K4C7|O15319	Missense_Mutation	SNP	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34	p.I136M	ENST00000377603.4	37	c.408	CCDS13135.1	20	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090141	0.55968	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.93	1.72	0.24424	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.045277	0.85682	D	0.000000	T	0.78142	0.4237	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74662	-0.3590	9	0.66056	D	0.02	.	5.7231	0.17998	0.1227:0.4449:0.0:0.4324	.	136	Q9H1D9	RPC6_HUMAN	M	136	.	ENSP00000366828:I136M	I	+	3	3	POLR3F	18403810	0.797000	0.28877	0.998000	0.56505	0.987000	0.75469	-0.031000	0.12287	0.086000	0.17137	-0.345000	0.07892	ATC	POLR3F	-	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34		0.328	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	C	NM_006466		18455810	+1	no_errors	ENST00000377603	ensembl	human	known	70_37	missense	SNP	0.994	G
POLR3F	10621	genome.wustl.edu	37	20	18455810	18455810	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:18455810C>G	ENST00000377603.4	+	5	788	c.408C>G	c.(406-408)atC>atG	p.I136M	POLR3F_ENST00000462997.1_3'UTR	NM_006466.2	NP_006457.2	Q9H1D9	RPC6_HUMAN	polymerase (RNA) III (DNA directed) polypeptide F, 39 kDa	136					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)	2						AAAAGCTTATCAAAGCTGTTA	0.328																																					GBM(69;898 1468 19907 52011)												0													48.0	51.0	50.0					20																	18455810		2203	4295	6498	SO:0001583	missense	10621			U93869	CCDS13135.1	20p11.23	2013-01-21	2002-08-29		ENSG00000132664	ENSG00000132664		"""RNA polymerase subunits"""	15763	protein-coding gene	gene with protein product	"""RNA polymerase III C39 subunit"""		"""polymerase (RNA) III (DNA directed) polypeptide F (39 kDa)"""			9171375	Standard	NM_006466		Approved	RPC39, RPC6	uc002wqv.3	Q9H1D9	OTTHUMG00000031971	ENST00000377603.4:c.408C>G	20.37:g.18455810C>G	ENSP00000366828:p.Ile136Met		A8K4C7|O15319	Missense_Mutation	SNP	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34	p.I136M	ENST00000377603.4	37	c.408	CCDS13135.1	20	.	.	.	.	.	.	.	.	.	.	C	16.32	3.090141	0.55968	.	.	ENSG00000132664	ENST00000377603	.	.	.	5.93	1.72	0.24424	Winged helix-turn-helix transcription repressor DNA-binding (1);	0.045277	0.85682	D	0.000000	T	0.78142	0.4237	M	0.90369	3.11	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.74662	-0.3590	9	0.66056	D	0.02	.	5.7231	0.17998	0.1227:0.4449:0.0:0.4324	.	136	Q9H1D9	RPC6_HUMAN	M	136	.	ENSP00000366828:I136M	I	+	3	3	POLR3F	18403810	0.797000	0.28877	0.998000	0.56505	0.987000	0.75469	-0.031000	0.12287	0.086000	0.17137	-0.345000	0.07892	ATC	POLR3F	-	pfam_RNA_pol_Rpc34,pirsf_RNA_pol_Rpc34		0.328	POLR3F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3F	HGNC	protein_coding	OTTHUMT00000078170.2	C	NM_006466		18455810	+1	no_errors	ENST00000377603	ensembl	human	known	70_37	missense	SNP	0.994	G
POM121	9883	genome.wustl.edu	37	7	72413868	72413868	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:72413868G>A	ENST00000434423.2	+	11	3336	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G	POM121_ENST00000358357.3_Silent_p.G847G|POM121_ENST00000446813.1_Silent_p.G847G|POM121_ENST00000257622.4_Silent_p.G847G|POM121_ENST00000395270.1_Silent_p.G847G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1112	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGAGCTTTGGGATCAATGTGG	0.652																																																	0													26.0	21.0	23.0					7																	72413868		2173	4183	6356	SO:0001819	synonymous_variant	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3336G>A	7.37:g.72413868G>A			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.G1112	ENST00000434423.2	37	c.3336		7																																																																																			POM121	-	NULL		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	G			72413868	+1	no_errors	ENST00000434423	ensembl	human	known	70_37	silent	SNP	0.823	A
POM121	9883	genome.wustl.edu	37	7	72413868	72413868	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:72413868G>A	ENST00000434423.2	+	11	3336	c.3336G>A	c.(3334-3336)ggG>ggA	p.G1112G	POM121_ENST00000358357.3_Silent_p.G847G|POM121_ENST00000446813.1_Silent_p.G847G|POM121_ENST00000257622.4_Silent_p.G847G|POM121_ENST00000395270.1_Silent_p.G847G			Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1112	Pore side. {ECO:0000255}.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				GGAGCTTTGGGATCAATGTGG	0.652																																																	0													26.0	21.0	23.0					7																	72413868		2173	4183	6356	SO:0001819	synonymous_variant	9883			AB014518	CCDS5542.1, CCDS59059.1	7q11.23	2013-01-08	2012-03-13		ENSG00000196313	ENSG00000196313		"""-"""	19702	protein-coding gene	gene with protein product		615753	"""POM121 membrane glycoprotein (rat)"", ""POM121 membrane glycoprotein"""			8335683, 9734811, 17900573	Standard	NM_172020		Approved	KIAA0618, DKFZP586G1822, DKFZP586P2220, POM121A	uc003twk.2	Q96HA1	OTTHUMG00000023527	ENST00000434423.2:c.3336G>A	7.37:g.72413868G>A			A6NFS9|A8CDT4|A8K933|A8MXF9|O75115|Q96DI0|Q9H9X1|Q9Y2N3|Q9Y4S7	Silent	SNP	NULL	p.G1112	ENST00000434423.2	37	c.3336		7																																																																																			POM121	-	NULL		0.652	POM121-001	KNOWN	basic|appris_candidate_longest	protein_coding	POM121	HGNC	protein_coding	OTTHUMT00000347344.1	G			72413868	+1	no_errors	ENST00000434423	ensembl	human	known	70_37	silent	SNP	0.823	A
PPFIA3	8541	genome.wustl.edu	37	19	49652821	49652821	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:49652821C>T	ENST00000334186.4	+	28	3721	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	PPFIA3_ENST00000602351.1_Silent_p.F1115F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1124					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGTCTTTCAGCCGCTCCC	0.622																																																	0													38.0	38.0	38.0					19																	49652821		2203	4300	6503	SO:0001819	synonymous_variant	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3372C>T	19.37:g.49652821C>T			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.F1124	ENST00000334186.4	37	c.3372	CCDS12758.1	19																																																																																			PPFIA3	-	NULL		0.622	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	C	NM_003660		49652821	+1	no_errors	ENST00000334186	ensembl	human	known	70_37	silent	SNP	1.000	T
PPFIA3	8541	genome.wustl.edu	37	19	49652821	49652821	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:49652821C>T	ENST00000334186.4	+	28	3721	c.3372C>T	c.(3370-3372)ttC>ttT	p.F1124F	PPFIA3_ENST00000602351.1_Silent_p.F1115F	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	1124					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CCAAGTCTTTCAGCCGCTCCC	0.622																																																	0													38.0	38.0	38.0					19																	49652821		2203	4300	6503	SO:0001819	synonymous_variant	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.3372C>T	19.37:g.49652821C>T			A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.F1124	ENST00000334186.4	37	c.3372	CCDS12758.1	19																																																																																			PPFIA3	-	NULL		0.622	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	C	NM_003660		49652821	+1	no_errors	ENST00000334186	ensembl	human	known	70_37	silent	SNP	1.000	T
PPM1E	22843	genome.wustl.edu	37	17	56833491	56833491	+	Missense_Mutation	SNP	T	T	C	rs58091258	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:56833491T>C	ENST00000308249.2	+	1	262	c.133T>C	c.(133-135)Tcc>Ccc	p.S45P		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	0	PP2C-like.				protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			cgaacccgagtccgagcccga	0.706													T|||	35	0.00698882	0.0129	0.0029	5008	,	,		8544	0.0069		0.001	False		,,,				2504	0.0082																0																																										SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.133T>C	17.37:g.56833491T>C	ENSP00000312411:p.Ser45Pro		Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S45P	ENST00000308249.2	37	c.133	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	T	0.181	-1.062190	0.01950	.	.	ENSG00000175175	ENST00000308249	T	0.22945	1.93	4.15	-1.34	0.09143	.	.	.	.	.	T	0.10551	0.0258	N	0.14661	0.345	0.52099	P	5.100000000002325E-5	B	0.02656	0.0	B	0.01281	0.0	T	0.45920	-0.9228	8	0.02654	T	1	1.5526	8.0241	0.30427	0.0:0.5961:0.0:0.4039	rs58091258;rs62648074	45	Q8WY54-2	.	P	45	ENSP00000312411:S45P	ENSP00000312411:S45P	S	+	1	0	PPM1E	54188490	0.903000	0.30736	0.954000	0.39281	0.160000	0.22226	0.122000	0.15687	-0.124000	0.11724	-1.425000	0.01104	TCC	PPM1E	-	NULL		0.706	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	T	NM_014906		56833491	+1	no_errors	ENST00000308249	ensembl	human	known	70_37	missense	SNP	0.787	C
PTH2	113091	genome.wustl.edu	37	19	49926559	49926559	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:49926559C>A	ENST00000270631.1	-	1	139	c.38G>T	c.(37-39)cGg>cTg	p.R13L	CTD-3148I10.1_ENST00000576655.1_5'Flank	NM_178449.3	NP_848544.1	Q96A98	TIP39_HUMAN	parathyroid hormone 2	13					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|skin(1)	6				OV - Ovarian serous cystadenocarcinoma(262;0.0015)|GBM - Glioblastoma multiforme(486;0.044)|Lung(386;0.0785)|LUSC - Lung squamous cell carcinoma(496;0.0836)		cagcagcagcCGAACCCGAGG	0.706																																																	0													10.0	13.0	12.0					19																	49926559		2089	4123	6212	SO:0001583	missense	113091			AY037555	CCDS12763.1	19q13.33	2013-02-28				ENSG00000142538		"""Endogenous ligands"""	30828	protein-coding gene	gene with protein product	"""tuberoinfundibular 39 residues"""	608386				11861531	Standard	NM_178449		Approved	TIP39	uc002pnn.1	Q96A98		ENST00000270631.1:c.38G>T	19.37:g.49926559C>A	ENSP00000270631:p.Arg13Leu		Q96DJ4	Missense_Mutation	SNP	NULL	p.R13L	ENST00000270631.1	37	c.38	CCDS12763.1	19	.	.	.	.	.	.	.	.	.	.	c	21.5	4.160118	0.78226	.	.	ENSG00000142538	ENST00000270631	.	.	.	4.3	4.3	0.51218	.	.	.	.	.	T	0.50103	0.1596	N	0.24115	0.695	0.33068	D	0.534978	D	0.56968	0.978	P	0.59487	0.858	T	0.62751	-0.6788	8	0.87932	D	0	-6.7249	12.652	0.56766	0.0:1.0:0.0:0.0	.	13	Q96A98	TIP39_HUMAN	L	13	.	ENSP00000270631:R13L	R	-	2	0	PTH2	54618371	0.854000	0.29725	0.866000	0.34008	0.685000	0.39939	-0.051000	0.11885	2.112000	0.64535	0.457000	0.33378	CGG	PTH2	-	NULL		0.706	PTH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTH2	HGNC	protein_coding	OTTHUMT00000465366.1	C	NM_178449		49926559	-1	no_errors	ENST00000270631	ensembl	human	known	70_37	missense	SNP	0.979	A
RAF1	5894	genome.wustl.edu	37	3	12660149	12660149	+	Silent	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:12660149G>C	ENST00000251849.4	-	2	511	c.72C>G	c.(70-72)ggC>ggG	p.G24G	RAF1_ENST00000442415.2_Silent_p.G24G|RAF1_ENST00000542177.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	24					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGCAGCTGGAGCCATCAAACA	0.458			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																															Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													128.0	115.0	119.0					3																	12660149		2203	4300	6503	SO:0001819	synonymous_variant	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.72C>G	3.37:g.12660149G>C			B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.G24	ENST00000251849.4	37	c.72	CCDS2612.1	3																																																																																			RAF1	-	NULL		0.458	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2	G	NM_002880		12660149	-1	no_errors	ENST00000442415	ensembl	human	known	70_37	silent	SNP	1.000	C
RAF1	5894	genome.wustl.edu	37	3	12660149	12660149	+	Silent	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:12660149G>C	ENST00000251849.4	-	2	511	c.72C>G	c.(70-72)ggC>ggG	p.G24G	RAF1_ENST00000442415.2_Silent_p.G24G|RAF1_ENST00000542177.1_5'UTR	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	Raf-1 proto-oncogene, serine/threonine kinase	24					activation of adenylate cyclase activity (GO:0007190)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|death-inducing signaling complex assembly (GO:0071550)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intermediate filament cytoskeleton organization (GO:0045104)|ion transmembrane transport (GO:0034220)|MAPK cascade (GO:0000165)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of protein complex assembly (GO:0031333)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein phosphorylation (GO:0006468)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of cell differentiation (GO:0045595)|regulation of cell motility (GO:2000145)|regulation of Rho protein signal transduction (GO:0035023)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)	TGCAGCTGGAGCCATCAAACA	0.458			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome																															Dom	yes		3	3p25	5894	v-raf-1 murine leukemia viral oncogene homolog 1		M	0													128.0	115.0	119.0					3																	12660149		2203	4300	6503	SO:0001819	synonymous_variant	5894	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	X03484	CCDS2612.1	3p25	2014-09-17	2014-06-26		ENSG00000132155	ENSG00000132155			9829	protein-coding gene	gene with protein product	"""C-Raf proto-oncogene, serine/threonine kinase"""	164760	"""v-raf-1 murine leukemia viral oncogene homolog 1"""			1611909	Standard	NM_002880		Approved	Raf-1, c-Raf, CRAF	uc003bxf.4	P04049	OTTHUMG00000129789	ENST00000251849.4:c.72C>G	3.37:g.12660149G>C			B0LPH8|B2R5N3|Q15278|Q9UC20	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd	p.G24	ENST00000251849.4	37	c.72	CCDS2612.1	3																																																																																			RAF1	-	NULL		0.458	RAF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAF1	HGNC	protein_coding	OTTHUMT00000252015.2	G	NM_002880		12660149	-1	no_errors	ENST00000442415	ensembl	human	known	70_37	silent	SNP	1.000	C
RAI1	10743	genome.wustl.edu	37	17	17696863	17696863	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:17696863C>G	ENST00000353383.1	+	3	1070	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	RAI1_ENST00000261641.6_Missense_Mutation_p.L201V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	201	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCTCCCCTCTGCCCTTCCC	0.652																																																	0													70.0	67.0	68.0					17																	17696863		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.601C>G	17.37:g.17696863C>G	ENSP00000323074:p.Leu201Val		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.L201V	ENST00000353383.1	37	c.601	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312870	0.23908	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.68479	-0.33;2.4;0.27	4.33	2.13	0.27403	.	0.244264	0.28109	N	0.016564	T	0.54415	0.1857	L	0.61218	1.895	0.30744	N	0.745875	B	0.30406	0.278	B	0.27887	0.084	T	0.48758	-0.9007	10	0.15066	T	0.55	.	6.5594	0.22478	0.2714:0.6181:0.0:0.1105	.	201	Q7Z5J4	RAI1_HUMAN	V	201	ENSP00000323074:L201V;ENSP00000379120:L201V;ENSP00000261641:L201V	ENSP00000261641:L201V	L	+	1	2	RAI1	17637588	0.690000	0.27699	0.722000	0.30670	0.645000	0.38454	1.313000	0.33585	0.822000	0.34565	0.313000	0.20887	CTG	RAI1	-	NULL		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	C	NM_030665		17696863	+1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.861	G
RAI1	10743	genome.wustl.edu	37	17	17696863	17696863	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr17:17696863C>G	ENST00000353383.1	+	3	1070	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	RAI1_ENST00000261641.6_Missense_Mutation_p.L201V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	201	Gln-rich.				circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TGCCTCCCCTCTGCCCTTCCC	0.652																																																	0													70.0	67.0	68.0					17																	17696863		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.601C>G	17.37:g.17696863C>G	ENSP00000323074:p.Leu201Val		Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	smart_Znf_PHD	p.L201V	ENST00000353383.1	37	c.601	CCDS11188.1	17	.	.	.	.	.	.	.	.	.	.	C	10.30	1.312870	0.23908	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.68479	-0.33;2.4;0.27	4.33	2.13	0.27403	.	0.244264	0.28109	N	0.016564	T	0.54415	0.1857	L	0.61218	1.895	0.30744	N	0.745875	B	0.30406	0.278	B	0.27887	0.084	T	0.48758	-0.9007	10	0.15066	T	0.55	.	6.5594	0.22478	0.2714:0.6181:0.0:0.1105	.	201	Q7Z5J4	RAI1_HUMAN	V	201	ENSP00000323074:L201V;ENSP00000379120:L201V;ENSP00000261641:L201V	ENSP00000261641:L201V	L	+	1	2	RAI1	17637588	0.690000	0.27699	0.722000	0.30670	0.645000	0.38454	1.313000	0.33585	0.822000	0.34565	0.313000	0.20887	CTG	RAI1	-	NULL		0.652	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAI1	HGNC	protein_coding	OTTHUMT00000131775.1	C	NM_030665		17696863	+1	no_errors	ENST00000353383	ensembl	human	known	70_37	missense	SNP	0.861	G
RAPGEF2	9693	genome.wustl.edu	37	4	160266410	160266410	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:160266410A>G	ENST00000264431.4	+	18	3367	c.2948A>G	c.(2947-2949)aAt>aGt	p.N983S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	983					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TACCTTTCCAATTTGGAGCTA	0.448																																																	0													141.0	140.0	141.0					4																	160266410		1933	4168	6101	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2948A>G	4.37:g.160266410A>G	ENSP00000264431:p.Asn983Ser		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.N983S	ENST00000264431.4	37	c.2948	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.07|10.07	1.249884|1.249884	0.22880|0.22880	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.28255	.|1.62	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Ras guanine nucleotide exchange factor, domain (1);	.|0.120690	.|0.85682	.|D	.|0.000000	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.41415|0.41415	1.275|1.275	0.42139|0.42139	D|D	0.991507|0.991507	.|B	.|0.10296	.|0.003	.|B	.|0.09377	.|0.004	T|T	0.09378|0.09378	-1.0677|-1.0677	5|10	.|0.13853	.|T	.|0.58	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|983	.|Q9Y4G8	.|RPGF2_HUMAN	V|S	15|983	.|ENSP00000264431:N983S	.|ENSP00000264431:N983S	I|N	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160485860|160485860	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	5.335000|5.335000	0.65929|0.65929	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATT|AAT	RAPGEF2	-	superfamily_Ras_GEF_dom		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	A	NM_014247		160266410	+1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	G
RAPGEF2	9693	genome.wustl.edu	37	4	160266410	160266410	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:160266410A>G	ENST00000264431.4	+	18	3367	c.2948A>G	c.(2947-2949)aAt>aGt	p.N983S		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	983					adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|blood vessel development (GO:0001568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|cellular response to nerve growth factor stimulus (GO:1990090)|establishment of endothelial barrier (GO:0061028)|forebrain neuron development (GO:0021884)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|MAPK cascade (GO:0000165)|negative regulation of cell proliferation (GO:0008285)|negative regulation of dendrite morphogenesis (GO:0050774)|negative regulation of melanin biosynthetic process (GO:0048022)|nerve growth factor signaling pathway (GO:0038180)|neuron migration (GO:0001764)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron migration (GO:2001224)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein binding (GO:0032092)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rap GTPase activity (GO:0032854)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of vasculogenesis (GO:2001214)|Rap protein signal transduction (GO:0032486)|regulation of cell junction assembly (GO:1901888)|regulation of synaptic plasticity (GO:0048167)|small GTPase mediated signal transduction (GO:0007264)|ventricular system development (GO:0021591)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|synapse (GO:0045202)	beta-1 adrenergic receptor binding (GO:0031697)|calcium ion binding (GO:0005509)|cAMP binding (GO:0030552)|diacylglycerol binding (GO:0019992)|PDZ domain binding (GO:0030165)|Rap GTPase activator activity (GO:0046582)|Rap guanyl-nucleotide exchange factor activity (GO:0017034)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TACCTTTCCAATTTGGAGCTA	0.448																																																	0													141.0	140.0	141.0					4																	160266410		1933	4168	6101	SO:0001583	missense	9693			AB002311	CCDS43277.1	4q32.1	2004-03-01	2004-03-01	2004-03-01					16854	protein-coding gene	gene with protein product	"""Rap GEP"""	609530	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 1"""	PDZGEF1		9205841, 10934204	Standard	NM_014247		Approved	PDZ-GEF1, RA-GEF, DKFZP586O1422, KIAA0313	uc003iqg.4	Q9Y4G8		ENST00000264431.4:c.2948A>G	4.37:g.160266410A>G	ENSP00000264431:p.Asn983Ser		D3DP27	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.N983S	ENST00000264431.4	37	c.2948	CCDS43277.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.07|10.07	1.249884|1.249884	0.22880|0.22880	.|.	.|.	ENSG00000109756|ENSG00000109756	ENST00000510253|ENST00000264431	.|T	.|0.28255	.|1.62	6.07|6.07	6.07|6.07	0.98685|0.98685	.|Ras guanine nucleotide exchange factor, domain (1);	.|0.120690	.|0.85682	.|D	.|0.000000	T|T	0.26846|0.26846	0.0657|0.0657	L|L	0.41415|0.41415	1.275|1.275	0.42139|0.42139	D|D	0.991507|0.991507	.|B	.|0.10296	.|0.003	.|B	.|0.09377	.|0.004	T|T	0.09378|0.09378	-1.0677|-1.0677	5|10	.|0.13853	.|T	.|0.58	.|.	16.6288|16.6288	0.85011|0.85011	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|983	.|Q9Y4G8	.|RPGF2_HUMAN	V|S	15|983	.|ENSP00000264431:N983S	.|ENSP00000264431:N983S	I|N	+|+	1|2	0|0	RAPGEF2|RAPGEF2	160485860|160485860	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	5.335000|5.335000	0.65929|0.65929	2.326000|2.326000	0.78906|0.78906	0.533000|0.533000	0.62120|0.62120	ATT|AAT	RAPGEF2	-	superfamily_Ras_GEF_dom		0.448	RAPGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAPGEF2	HGNC	protein_coding	OTTHUMT00000364980.2	A	NM_014247		160266410	+1	no_errors	ENST00000264431	ensembl	human	known	70_37	missense	SNP	1.000	G
RHOBTB3	22836	genome.wustl.edu	37	5	95067758	95067758	+	Silent	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:95067758C>G	ENST00000379982.3	+	2	706	c.198C>G	c.(196-198)gtC>gtG	p.V66V	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.V66V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	66	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTGGGAATGTCAAGCTGGTGG	0.597																																																	0													78.0	64.0	69.0					5																	95067758		2203	4300	6503	SO:0001819	synonymous_variant	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.198C>G	5.37:g.95067758C>G			A0PJA4|A8K1W9|Q8IW06	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V66	ENST00000379982.3	37	c.198	CCDS4077.1	5																																																																																			RHOBTB3	-	NULL		0.597	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95067758	+1	no_errors	ENST00000379982	ensembl	human	known	70_37	silent	SNP	1.000	G
RHOBTB3	22836	genome.wustl.edu	37	5	95067758	95067758	+	Silent	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:95067758C>G	ENST00000379982.3	+	2	706	c.198C>G	c.(196-198)gtC>gtG	p.V66V	CTD-2154I11.2_ENST00000513235.1_RNA|CTD-2154I11.2_ENST00000512486.1_RNA|RHOBTB3_ENST00000506817.1_Silent_p.V66V	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	66	Rho-like.				ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTGGGAATGTCAAGCTGGTGG	0.597																																																	0													78.0	64.0	69.0					5																	95067758		2203	4300	6503	SO:0001819	synonymous_variant	22836			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.198C>G	5.37:g.95067758C>G			A0PJA4|A8K1W9|Q8IW06	Silent	SNP	pfam_BTB_POZ,pfam_Small_GTPase,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.V66	ENST00000379982.3	37	c.198	CCDS4077.1	5																																																																																			RHOBTB3	-	NULL		0.597	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHOBTB3	HGNC	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95067758	+1	no_errors	ENST00000379982	ensembl	human	known	70_37	silent	SNP	1.000	G
RIN2	54453	genome.wustl.edu	37	20	19916187	19916187	+	Intron	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:19916187G>A	ENST00000255006.6	+	3	454				RIN2_ENST00000484638.1_Intron|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2						endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CAGTGTAGCCGTGTGAGTCTC	0.463																																																	0																																										SO:0001627	intron_variant	54453			AB060339	CCDS56182.1	20p11.22	2008-07-30			ENSG00000132669	ENSG00000132669			18750	protein-coding gene	gene with protein product		610222				11733506, 1849280, 16423831	Standard	NM_018993		Approved	RASSF4	uc002wro.2	Q8WYP3	OTTHUMG00000031996	ENST00000255006.6:c.305+344G>A	20.37:g.19916187G>A			Q00425|Q5TFT8|Q9BQL3|Q9H071	RNA	SNP	-	NULL	ENST00000255006.6	37	NULL	CCDS56182.1	20																																																																																			RIN2	-	-		0.463	RIN2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RIN2	HGNC	protein_coding	OTTHUMT00000078212.1	G			19916187	+1	no_errors	ENST00000467569	ensembl	human	known	70_37	rna	SNP	0.000	A
RNASET2	8635	genome.wustl.edu	37	6	167347552	167347552	+	Intron	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:167347552G>C	ENST00000508775.1	-	7	1012				RNASET2_ENST00000366855.6_Intron|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000496851.2_Intron|RNASET2_ENST00000476238.2_Intron	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2						RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		AGAGACACACGAGAAAAGAAG	0.413																																																	0													112.0	111.0	111.0					6																	167347552		2203	4300	6503	SO:0001627	intron_variant	8635			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.492+26C>G	6.37:g.167347552G>C			B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	RNA	SNP	-	NULL	ENST00000508775.1	37	NULL	CCDS5295.1	6																																																																																			RNASET2	-	-		0.413	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASET2	HGNC	protein_coding	OTTHUMT00000043089.2	G	NM_003730		167347552	-1	no_errors	ENST00000509073	ensembl	human	known	70_37	rna	SNP	0.000	C
RNASET2	8635	genome.wustl.edu	37	6	167347552	167347552	+	Intron	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr6:167347552G>C	ENST00000508775.1	-	7	1012				RNASET2_ENST00000366855.6_Intron|RP11-514O12.4_ENST00000507747.1_Intron|RNASET2_ENST00000496851.2_Intron|RNASET2_ENST00000476238.2_Intron	NM_003730.4	NP_003721.2	O00584	RNT2_HUMAN	ribonuclease T2						RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	ribonuclease activity (GO:0004540)|ribonuclease T2 activity (GO:0033897)|RNA binding (GO:0003723)			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		AGAGACACACGAGAAAAGAAG	0.413																																																	0													112.0	111.0	111.0					6																	167347552		2203	4300	6503	SO:0001627	intron_variant	8635			AJ419866	CCDS5295.1	6q27	2014-05-20			ENSG00000026297	ENSG00000026297			21686	protein-coding gene	gene with protein product		612944				9192857	Standard	NM_003730		Approved	RNASE6PL, FLJ10907, bA514O12.3	uc003qve.3	O00584	OTTHUMG00000016009	ENST00000508775.1:c.492+26C>G	6.37:g.167347552G>C			B2RDA7|E1P5C3|Q5T8Q0|Q8TCU2|Q9BZ46|Q9BZ47	RNA	SNP	-	NULL	ENST00000508775.1	37	NULL	CCDS5295.1	6																																																																																			RNASET2	-	-		0.413	RNASET2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASET2	HGNC	protein_coding	OTTHUMT00000043089.2	G	NM_003730		167347552	-1	no_errors	ENST00000509073	ensembl	human	known	70_37	rna	SNP	0.000	C
RP1L1	94137	genome.wustl.edu	37	8	10466019	10466019	+	Silent	SNP	A	A	T	rs199959237|rs535482422|rs199577777	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:10466019A>T	ENST00000382483.3	-	4	5812	c.5589T>A	c.(5587-5589)gcT>gcA	p.A1863A		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1943					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCCCCTTCAGCCTCCTGGG	0.627																																																	0													157.0	156.0	156.0					8																	10466019		1904	4108	6012	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5589T>A	8.37:g.10466019A>T			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.A1863	ENST00000382483.3	37	c.5589	CCDS43708.1	8																																																																																			RP1L1	-	NULL		0.627	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	A			10466019	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	silent	SNP	0.000	T
RXRA	6256	genome.wustl.edu	37	9	137330789	137330789	+	IGR	SNP	C	C	T	rs546006952		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:137330789C>T	ENST00000481739.1	+	0	1846				RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha						camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCTTACCCACCGCTCTACGTG	0.617																																																	0																																										SO:0001628	intergenic_variant	6256			X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887		9.37:g.137330789C>T			B3KY83|Q2NL52|Q2V504	RNA	SNP	-	NULL	ENST00000481739.1	37	NULL	CCDS35172.1	9																																																																																			RXRA	-	-		0.617	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRA	HGNC	protein_coding	OTTHUMT00000054949.1	C	NM_002957		137330789	+1	no_errors	ENST00000356384	ensembl	human	known	70_37	rna	SNP	0.000	T
SDHAP1	255812	genome.wustl.edu	37	3	195692347	195692347	+	RNA	SNP	G	G	A	rs62282794		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:195692347G>A	ENST00000427841.1	-	0	2155					NR_003264.2				succinate dehydrogenase complex, subunit A, flavoprotein pseudogene 1																		TTCCTCCAGTGCTCCTCAAAG	0.572																																					Ovarian(67;1158 1227 12109 20189 43170)												0																																												255812			BC071730		3q29	2009-12-02	2006-11-21	2009-12-02	ENSG00000185485	ENSG00000185485			32455	pseudogene	pseudogene			"""succinate dehydrogenase complex, subunit A, flavoprotein-like 1"""	SDHAL1, SDHALP1			Standard	NR_003264		Approved		uc003fvy.3		OTTHUMG00000155716		3.37:g.195692347G>A				RNA	SNP	-	NULL	ENST00000427841.1	37	NULL		3																																																																																			SDHAP1	-	-		0.572	SDHAP1-002	KNOWN	basic	processed_transcript	SDHAP1	HGNC	pseudogene	OTTHUMT00000341367.1	G			195692347	-1	no_errors	ENST00000354559	ensembl	human	known	70_37	rna	SNP	1.000	A
SEC14L3	266629	genome.wustl.edu	37	22	30867221	30867221	+	Intron	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr22:30867221G>C	ENST00000215812.4	-	2	145				SEC14L3_ENST00000403066.1_Intron|SEC14L3_ENST00000415957.2_5'Flank|SEC14L3_ENST00000402286.1_Intron|SEC14L3_ENST00000539629.1_5'UTR|SEC14L3_ENST00000540910.1_5'Flank|SEC14L3_ENST00000401751.1_Intron	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	gcagtgagctgagatcgctcc	0.478																																					Esophageal Squamous(108;290 1516 3584 23771 37333)												0																																										SO:0001627	intron_variant	266629			AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.55-652C>G	22.37:g.30867221G>C			E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Nonsense_Mutation	SNP	NULL	p.S33*	ENST00000215812.4	37	c.98	CCDS13877.1	22																																																																																			SEC14L3	-	NULL		0.478	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L3	HGNC	protein_coding	OTTHUMT00000321950.4	G	NM_174975		30867221	-1	no_errors	ENST00000434642	ensembl	human	known	70_37	nonsense	SNP	0.006	C
SFXN2	118980	genome.wustl.edu	37	10	104492659	104492659	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:104492659C>T	ENST00000369893.5	+	9	932	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	255					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATTGCACTTCATGCAGGTAT	0.577																																																	0													177.0	148.0	158.0					10																	104492659		2203	4300	6503	SO:0001819	synonymous_variant	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.765C>T	10.37:g.104492659C>T			Q5JSM6	Silent	SNP	pfam_Mtc,tigrfam_Mtc	p.F255	ENST00000369893.5	37	c.765	CCDS7539.1	10																																																																																			SFXN2	-	pfam_Mtc,tigrfam_Mtc		0.577	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	C	XM_058359		104492659	+1	no_errors	ENST00000369893	ensembl	human	known	70_37	silent	SNP	1.000	T
SFXN2	118980	genome.wustl.edu	37	10	104492659	104492659	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:104492659C>T	ENST00000369893.5	+	9	932	c.765C>T	c.(763-765)ttC>ttT	p.F255F		NM_178858.4	NP_849189.1	Q96NB2	SFXN2_HUMAN	sideroflexin 2	255					iron ion homeostasis (GO:0055072)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	cation transmembrane transporter activity (GO:0008324)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|prostate(1)	13		Colorectal(252;0.207)		Epithelial(162;4.53e-09)|all cancers(201;1.2e-07)|BRCA - Breast invasive adenocarcinoma(275;0.218)		AATTGCACTTCATGCAGGTAT	0.577																																																	0													177.0	148.0	158.0					10																	104492659		2203	4300	6503	SO:0001819	synonymous_variant	118980			AF462052	CCDS7539.1	10q24.32	2006-03-13			ENSG00000156398	ENSG00000156398		"""Sideroflexins"""	16086	protein-coding gene	gene with protein product		615570					Standard	NM_178858		Approved		uc001kwb.2	Q96NB2	OTTHUMG00000018967	ENST00000369893.5:c.765C>T	10.37:g.104492659C>T			Q5JSM6	Silent	SNP	pfam_Mtc,tigrfam_Mtc	p.F255	ENST00000369893.5	37	c.765	CCDS7539.1	10																																																																																			SFXN2	-	pfam_Mtc,tigrfam_Mtc		0.577	SFXN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SFXN2	HGNC	protein_coding	OTTHUMT00000050096.2	C	XM_058359		104492659	+1	no_errors	ENST00000369893	ensembl	human	known	70_37	silent	SNP	1.000	T
SH2B1	25970	genome.wustl.edu	37	16	28884923	28884923	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:28884923G>A	ENST00000322610.8	+	11	2492	c.2053G>A	c.(2053-2055)Ggt>Agt	p.G685S	SH2B1_ENST00000359285.5_3'UTR|SH2B1_ENST00000538342.1_3'UTR|SH2B1_ENST00000395532.4_3'UTR|SH2B1_ENST00000545570.1_3'UTR|SH2B1_ENST00000563674.1_3'UTR|SH2B1_ENST00000337120.5_3'UTR			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	685					blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						GAAAGCGGGCGGTGGAGGGGT	0.667																																																	0													114.0	165.0	150.0					16																	28884923		692	1591	2283	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.2053G>A	16.37:g.28884923G>A	ENSP00000321221:p.Gly685Ser		A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.G685S	ENST00000322610.8	37	c.2053	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	G	3.787	-0.044510	0.07452	.	.	ENSG00000178188	ENST00000322610	T	0.35421	1.31	5.32	-0.583	0.11706	.	1.056440	0.07392	N	0.889235	T	0.14013	0.0339	N	0.03608	-0.345	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45818	-0.9235	10	0.02654	T	1	-25.679	9.4207	0.38550	0.47:0.0:0.53:0.0	.	685	Q9NRF2	SH2B1_HUMAN	S	685	ENSP00000321221:G685S	ENSP00000321221:G685S	G	+	1	0	SH2B1	28792424	0.997000	0.39634	0.998000	0.56505	0.995000	0.86356	0.237000	0.17985	0.056000	0.16144	-0.229000	0.12294	GGT	SH2B1	-	NULL		0.667	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	G	NM_015503		28884923	+1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	0.985	A
SIGLEC11	114132	genome.wustl.edu	37	19	50462671	50462671	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:50462671G>C	ENST00000447370.2	-	5	1093	c.1003C>G	c.(1003-1005)Cga>Gga	p.R335G	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R335G|CTC-326K19.6_ENST00000451973.1_5'Flank	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	335	Ig-like C2-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TTCTCCGCTCGGCAGGTGTAG	0.672																																																	0													26.0	39.0	35.0					19																	50462671		1950	4288	6238	SO:0001583	missense	114132			AF337818	CCDS12790.2, CCDS46150.1	19q13.3	2013-01-29			ENSG00000161640	ENSG00000161640		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15622	protein-coding gene	gene with protein product		607157				11986327	Standard	NM_052884		Approved		uc010ybi.2	Q96RL6	OTTHUMG00000157077	ENST00000447370.2:c.1003C>G	19.37:g.50462671G>C	ENSP00000412361:p.Arg335Gly			Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R335G	ENST00000447370.2	37	c.1003	CCDS12790.2	19	.	.	.	.	.	.	.	.	.	.	G	9.405	1.079126	0.20227	.	.	ENSG00000161640	ENST00000447370;ENST00000458019	T	0.68181	-0.31	1.61	1.61	0.23674	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.161780	0.06593	N	0.752380	T	0.81740	0.4886	M	0.87269	2.87	0.25548	N	0.98712	D;D	0.71674	0.994;0.998	D;D	0.73380	0.973;0.98	T	0.62210	-0.6902	10	0.48119	T	0.1	.	6.7557	0.23512	0.0:0.0:1.0:0.0	.	335;335	Q96RL6-2;Q96RL6	.;SIG11_HUMAN	G	335	ENSP00000412361:R335G	ENSP00000412361:R335G	R	-	1	2	SIGLEC11	55154483	0.050000	0.20438	0.941000	0.38009	0.072000	0.16883	0.131000	0.15870	1.204000	0.43247	0.650000	0.86243	CGA	SIGLEC11	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.672	SIGLEC11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC11	HGNC	protein_coding	OTTHUMT00000347382.1	G	NM_052884		50462671	-1	no_errors	ENST00000447370	ensembl	human	known	70_37	missense	SNP	0.974	C
SIGLEC10	89790	genome.wustl.edu	37	19	51918103	51918103	+	Missense_Mutation	SNP	C	C	G	rs145601049		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:51918103C>G	ENST00000339313.5	-	8	1706	c.1590G>C	c.(1588-1590)caG>caC	p.Q530H	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q472H|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q530H|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	530					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGATCCACTCTGGGCCCCAT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		15826	0.0		0.0	False		,,,				2504	0.001																0								C	HIS/GLN,,,,,,HIS/GLN	0,4406		0,0,2203	58.0	69.0	65.0		1416,,,,,,1590	3.8	0.1	19	dbSNP_134	65	9,8591		0,9,4291	yes	missense,intron,intron,intron,intron,intron,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	24,,,,,,24	0,9,6494	GG,GC,CC		0.1047,0.0,0.0692	benign,,,,,,benign	472/640,,,,,,530/698	51918103	9,12997	2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1590G>C	19.37:g.51918103C>G	ENSP00000345243:p.Gln530His		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q530H	ENST00000339313.5	37	c.1590	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	14.69	2.610318	0.46527	0.0	0.001047	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.86865	-2.18;-2.18;-2.18	4.83	3.79	0.43588	.	0.613774	0.15087	N	0.281307	D	0.87200	0.6118	L	0.48174	1.505	0.26254	N	0.978672	D;P	0.55172	0.97;0.553	P;B	0.53224	0.721;0.256	T	0.78484	-0.2186	10	0.52906	T	0.07	.	9.8382	0.40982	0.0:0.6096:0.3904:0.0	.	472;530	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	H	530;472;530	ENSP00000348646:Q530H;ENSP00000389132:Q472H;ENSP00000345243:Q530H	ENSP00000345243:Q530H	Q	-	3	2	SIGLEC10	56609915	0.015000	0.18098	0.126000	0.21872	0.016000	0.09150	0.503000	0.22610	0.961000	0.38030	0.561000	0.74099	CAG	SIGLEC10	-	NULL		0.657	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51918103	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.637	G
SIGLEC10	89790	genome.wustl.edu	37	19	51918103	51918103	+	Missense_Mutation	SNP	C	C	G	rs145601049		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:51918103C>G	ENST00000339313.5	-	8	1706	c.1590G>C	c.(1588-1590)caG>caC	p.Q530H	CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000436984.2_Intron|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.Q472H|SIGLEC10_ENST00000525998.1_Intron|SIGLEC10_ENST00000432469.2_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.Q530H|SIGLEC10_ENST00000442846.3_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	530					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		TGGATCCACTCTGGGCCCCAT	0.657													c|||	1	0.000199681	0.0	0.0	5008	,	,		15826	0.0		0.0	False		,,,				2504	0.001																0								C	HIS/GLN,,,,,,HIS/GLN	0,4406		0,0,2203	58.0	69.0	65.0		1416,,,,,,1590	3.8	0.1	19	dbSNP_134	65	9,8591		0,9,4291	yes	missense,intron,intron,intron,intron,intron,missense	SIGLEC10	NM_001171156.1,NM_001171157.1,NM_001171158.1,NM_001171159.1,NM_001171160.1,NM_001171161.1,NM_033130.4	24,,,,,,24	0,9,6494	GG,GC,CC		0.1047,0.0,0.0692	benign,,,,,,benign	472/640,,,,,,530/698	51918103	9,12997	2203	4300	6503	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1590G>C	19.37:g.51918103C>G	ENSP00000345243:p.Gln530His		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q530H	ENST00000339313.5	37	c.1590	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	14.69	2.610318	0.46527	0.0	0.001047	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.86865	-2.18;-2.18;-2.18	4.83	3.79	0.43588	.	0.613774	0.15087	N	0.281307	D	0.87200	0.6118	L	0.48174	1.505	0.26254	N	0.978672	D;P	0.55172	0.97;0.553	P;B	0.53224	0.721;0.256	T	0.78484	-0.2186	10	0.52906	T	0.07	.	9.8382	0.40982	0.0:0.6096:0.3904:0.0	.	472;530	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	H	530;472;530	ENSP00000348646:Q530H;ENSP00000389132:Q472H;ENSP00000345243:Q530H	ENSP00000345243:Q530H	Q	-	3	2	SIGLEC10	56609915	0.015000	0.18098	0.126000	0.21872	0.016000	0.09150	0.503000	0.22610	0.961000	0.38030	0.561000	0.74099	CAG	SIGLEC10	-	NULL		0.657	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	C	NM_033130		51918103	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.637	G
SLC22A15	55356	genome.wustl.edu	37	1	116534855	116534855	+	Silent	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:116534855C>T	ENST00000369503.4	+	2	421	c.291C>T	c.(289-291)atC>atT	p.I97I	SLC22A15_ENST00000369502.1_Silent_p.I97I	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	97					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCACCTCCATCGCCTCGGAGG	0.478																																																	0													26.0	25.0	26.0					1																	116534855		2002	4175	6177	SO:0001819	synonymous_variant	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.291C>T	1.37:g.116534855C>T			A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.I97	ENST00000369503.4	37	c.291	CCDS44198.1	1																																																																																			SLC22A15	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.478	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	C	NM_018420		116534855	+1	no_errors	ENST00000369503	ensembl	human	known	70_37	silent	SNP	0.940	T
SLC26A6	65010	genome.wustl.edu	37	3	48670795	48670795	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr3:48670795G>T	ENST00000395550.2	-	3	258	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	SLC26A6_ENST00000455886.2_Missense_Mutation_p.L71M|SLC26A6_ENST00000337000.8_Missense_Mutation_p.L71M|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000420764.2_Missense_Mutation_p.L71M|SLC26A6_ENST00000358747.6_Missense_Mutation_p.L50M|SLC26A6_ENST00000383733.3_Missense_Mutation_p.L71M			Q9BXS9	S26A6_HUMAN	solute carrier family 26 (anion exchanger), member 6	71					angiotensin-activated signaling pathway (GO:0038166)|anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|cellular response to cAMP (GO:0071320)|cellular response to fructose stimulus (GO:0071332)|cellular response to interferon-gamma (GO:0071346)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|epithelial fluid transport (GO:0042045)|formate transport (GO:0015724)|intestinal absorption (GO:0050892)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|mannitol transport (GO:0015797)|oxalate transport (GO:0019532)|oxalic acid secretion (GO:0046724)|positive regulation of dipeptide transmembrane transport (GO:2001150)|protein kinase C signaling (GO:0070528)|regulation of intracellular pH (GO:0051453)|sperm capacitation (GO:0048240)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transepithelial chloride transport (GO:0030321)|transepithelial transport (GO:0070633)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|chloride channel complex (GO:0034707)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane-bounded vesicle (GO:0031988)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)|vesicle membrane (GO:0012506)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride channel activity (GO:0005254)|chloride transmembrane transporter activity (GO:0015108)|efflux transmembrane transporter activity (GO:0015562)|formate efflux transmembrane transporter activity (GO:0015660)|formate transmembrane transporter activity (GO:0015499)|formate uptake transmembrane transporter activity (GO:0015659)|oxalate transmembrane transporter activity (GO:0019531)|PDZ domain binding (GO:0030165)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)		SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		TGTTGGAGCAGAAGGGCATAG	0.637																																					NSCLC(13;369 479 28271 30152 44026)												0													50.0	58.0	55.0					3																	48670795		2020	4158	6178	SO:0001583	missense	65010			AF279265	CCDS43087.1, CCDS46824.1, CCDS46825.1, CCDS46826.1, CCDS63627.1, CCDS63628.1	3p21.31	2013-08-05	2013-07-18		ENSG00000225697	ENSG00000225697		"""Solute carriers"""	14472	protein-coding gene	gene with protein product	"""pendrin-like protein 1"", ""pendrin L1"", ""sulfate anion transporter"", ""anion transporter 1"""	610068	"""solute carrier family 26, member 6"""			11087667, 11247665	Standard	NM_022911		Approved	DKFZp586E1422		Q9BXS9	OTTHUMG00000186381	ENST00000395550.2:c.211C>A	3.37:g.48670795G>T	ENSP00000378920:p.Leu71Met		B4DMZ1|Q548A7|Q96Q90|Q9NQU1	Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.L71M	ENST00000395550.2	37	c.211	CCDS43087.1	3	.	.	.	.	.	.	.	.	.	.	G	21.0	4.079460	0.76528	.	.	ENSG00000225697	ENST00000420764;ENST00000395550;ENST00000383733;ENST00000337000;ENST00000447978;ENST00000358747;ENST00000455886;ENST00000431739;ENST00000426599	D;D;D;D;D;D;D;D	0.94862	-3.42;-3.42;-3.51;-3.44;-3.4;-3.54;-3.14;-3.21	4.89	3.05	0.35203	.	.	.	.	.	D	0.94427	0.8207	L	0.34521	1.04	0.32239	N	0.573018	D;D;D;D;D;D	0.89917	1.0;1.0;0.983;0.97;0.97;0.993	D;D;P;P;P;P	0.79108	0.982;0.992;0.885;0.77;0.77;0.844	D	0.92725	0.6195	9	0.45353	T	0.12	.	10.0573	0.42252	0.0752:0.1382:0.7866:0.0	.	71;71;71;71;71;3465	B4DMZ1;G3XAC1;Q9BXS9-2;Q548A7;Q9BXS9;Q5Y190	.;.;.;.;S26A6_HUMAN;.	M	71;71;71;71;71;50;71;71;71	ENSP00000404684:L71M;ENSP00000378920:L71M;ENSP00000373239:L71M;ENSP00000337648:L71M;ENSP00000351597:L50M;ENSP00000401066:L71M;ENSP00000401813:L71M;ENSP00000405872:L71M	ENSP00000307089:L71M	L	-	1	2	SLC26A6	48645799	1.000000	0.71417	0.168000	0.22838	0.282000	0.26991	4.492000	0.60334	0.625000	0.30304	0.561000	0.74099	CTG	SLC26A6	-	NULL		0.637	SLC26A6-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC26A6	HGNC	protein_coding	OTTHUMT00000345040.1	G	NM_022911		48670795	-1	no_errors	ENST00000395550	ensembl	human	known	70_37	missense	SNP	0.698	T
SLC35A4	113829	genome.wustl.edu	37	5	139946203	139946203	+	De_novo_Start_OutOfFrame	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:139946203G>A	ENST00000514199.1	+	0	1135				APBB3_ENST00000511201.2_5'Flank|APBB3_ENST00000354402.5_5'Flank|APBB3_ENST00000412920.3_5'Flank|APBB3_ENST00000357560.4_5'Flank|APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000508770.1_3'UTR|APBB3_ENST00000356738.2_5'Flank|SLC35A4_ENST00000323146.3_De_novo_Start_OutOfFrame|APBB3_ENST00000358580.5_5'Flank|APBB3_ENST00000508496.2_5'Flank			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4							Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sugar:proton symporter activity (GO:0005351)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCTATGTGGTGGCCAAAC	0.552																																																	0																																												113829			AJ420598	CCDS4231.1	5q31.3	2013-05-22			ENSG00000176087	ENSG00000176087		"""Solute carriers"""	20753	protein-coding gene	gene with protein product							Standard	NM_080670		Approved		uc003lgg.1	Q96G79	OTTHUMG00000129495	ENST00000514199.1:c.-552G>A	5.37:g.139946203G>A			A8K013	RNA	SNP	-	NULL	ENST00000514199.1	37	NULL	CCDS4231.1	5																																																																																			SLC35A4	-	-		0.552	SLC35A4-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC35A4	HGNC	protein_coding	OTTHUMT00000372815.1	G	NM_080670		139946203	+1	no_errors	ENST00000508770	ensembl	human	known	70_37	rna	SNP	1.000	A
SMARCA4	6597	genome.wustl.edu	37	19	11134251	11134251	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:11134251C>T	ENST00000429416.3	+	21	3198	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R973W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R973W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R973W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R973W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R973W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R973W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R973W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R973W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	973					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAAAGTGCTGCGGCCCTTCTT	0.562			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											63.0	57.0	59.0					19																	11134251		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2917C>T	19.37:g.11134251C>T	ENSP00000395654:p.Arg973Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R973W	ENST00000429416.3	37	c.2917	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.075406	0.94000	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	-35.1424	16.9975	0.86372	0.0:1.0:0.0:0.0	.	973;973;973;973;973;193;973;973	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	973;973;1037;973;973;973;973;973	ENSP00000395654:R973W;ENSP00000350720:R973W;ENSP00000343896:R973W;ENSP00000445036:R973W;ENSP00000392837:R973W;ENSP00000397783:R973W;ENSP00000414727:R973W	ENSP00000343896:R973W	R	+	1	2	SMARCA4	10995251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.626000	0.61269	2.542000	0.85734	0.655000	0.94253	CGG	SMARCA4	-	pfam_SNF2_N		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11134251	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCA4	6597	genome.wustl.edu	37	19	11134251	11134251	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:11134251C>T	ENST00000429416.3	+	21	3198	c.2917C>T	c.(2917-2919)Cgg>Tgg	p.R973W	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R973W|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R973W|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R973W|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R973W|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R973W|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R973W|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R973W|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R973W	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	973					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CAAAGTGCTGCGGCCCTTCTT	0.562			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											63.0	57.0	59.0					19																	11134251		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.2917C>T	19.37:g.11134251C>T	ENSP00000395654:p.Arg973Trp		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R973W	ENST00000429416.3	37	c.2917	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	31	5.075406	0.94000	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	D;D;D;D;D;D;D	0.93604	-3.25;-3.25;-3.25;-3.25;-3.25;-3.25;-3.25	4.9	4.9	0.64082	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.97832	0.9288	H	0.96518	3.835	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;0.998;1.0;1.0;1.0	D	0.99063	1.0831	10	0.87932	D	0	-35.1424	16.9975	0.86372	0.0:1.0:0.0:0.0	.	973;973;973;973;973;193;973;973	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;B4E0F1;A7E2E1;P51532	.;.;.;.;.;.;.;SMCA4_HUMAN	W	973;973;1037;973;973;973;973;973	ENSP00000395654:R973W;ENSP00000350720:R973W;ENSP00000343896:R973W;ENSP00000445036:R973W;ENSP00000392837:R973W;ENSP00000397783:R973W;ENSP00000414727:R973W	ENSP00000343896:R973W	R	+	1	2	SMARCA4	10995251	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.626000	0.61269	2.542000	0.85734	0.655000	0.94253	CGG	SMARCA4	-	pfam_SNF2_N		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11134251	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	T
SMG1	23049	genome.wustl.edu	37	16	18937339	18937339	+	Silent	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:18937339G>T	ENST00000446231.2	-	1	437	c.25C>A	c.(25-27)Cgg>Agg	p.R9R	CTD-2288F12.1_ENST00000565782.1_RNA|SMG1_ENST00000389467.3_Silent_p.R9R|SMG1_ENST00000567737.1_5'UTR			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	9	Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ctgcTCAGCCGAGACCCCGGG	0.741																																																	0													3.0	5.0	4.0					16																	18937339		1255	3188	4443	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.25C>A	16.37:g.18937339G>T			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	pfam_PI3/4_kinase_cat_dom,pfam_FATC,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.R9	ENST00000446231.2	37	c.25	CCDS45430.1	16																																																																																			SMG1	-	NULL		0.741	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18937339	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	T
SMYD5	10322	genome.wustl.edu	37	2	73447240	73447240	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:73447240G>A	ENST00000389501.4	+	3	312	c.267G>A	c.(265-267)ggG>ggA	p.G89G	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGCTGACCGGGAAACCAGGCC	0.557																																																	0													54.0	57.0	56.0					2																	73447240		2036	4181	6217	SO:0001819	synonymous_variant	10322			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.267G>A	2.37:g.73447240G>A			D6W5H3|Q13558	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.G89	ENST00000389501.4	37	c.267	CCDS33221.2	2																																																																																			SMYD5	-	pfam_SET_dom,smart_SET_dom		0.557	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	G	NM_006062		73447240	+1	no_errors	ENST00000389501	ensembl	human	known	70_37	silent	SNP	0.996	A
SMYD5	10322	genome.wustl.edu	37	2	73447240	73447240	+	Silent	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:73447240G>A	ENST00000389501.4	+	3	312	c.267G>A	c.(265-267)ggG>ggA	p.G89G	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	89	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.						metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GGCTGACCGGGAAACCAGGCC	0.557																																																	0													54.0	57.0	56.0					2																	73447240		2036	4181	6217	SO:0001819	synonymous_variant	10322			U50383	CCDS33221.2	2p12	2007-02-09	2003-05-14	2003-05-16	ENSG00000135632	ENSG00000135632		"""Zinc fingers, MYND-type"""	16258	protein-coding gene	gene with protein product			"""retinoic acid induced 15"""	RAI15		8754834	Standard	NM_006062		Approved	RRG1, NN8-4AG, ZMYND23	uc002siw.2	Q6GMV2	OTTHUMG00000150482	ENST00000389501.4:c.267G>A	2.37:g.73447240G>A			D6W5H3|Q13558	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.G89	ENST00000389501.4	37	c.267	CCDS33221.2	2																																																																																			SMYD5	-	pfam_SET_dom,smart_SET_dom		0.557	SMYD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD5	HGNC	protein_coding	OTTHUMT00000318301.1	G	NM_006062		73447240	+1	no_errors	ENST00000389501	ensembl	human	known	70_37	silent	SNP	0.996	A
SPA17	53340	genome.wustl.edu	37	11	124566298	124566299	+	3'UTR	INS	-	-	A	rs34955804		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:124566298_124566299insA	ENST00000532692.1	+	0	3833_3834				SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'Flank			Q15506	SP17_HUMAN	sperm autoantigenic protein 17						binding of sperm to zona pellucida (GO:0007339)|epithelial cilium movement (GO:0003351)|single fertilization (GO:0007338)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|membrane (GO:0016020)|motile cilium (GO:0031514)|primary cilium (GO:0072372)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		TATATAGCAGGAAAAAAAAAAA	0.386																																																	0																																										SO:0001624	3_prime_UTR_variant	53340			AF334735	CCDS8450.1	11q24.2	2009-03-12			ENSG00000064199	ENSG00000064199			11210	protein-coding gene	gene with protein product	"""cancer/testis antigen 22"""	608621				8688458	Standard	NM_017425		Approved	SP17, CT22	uc001qap.3	Q15506	OTTHUMG00000165927	ENST00000532692.1:c.*1957->A	11.37:g.124566309_124566309dupA			B2R4F2|Q9BXF7	RNA	INS	-	NULL	ENST00000532692.1	37	NULL	CCDS8450.1	11																																																																																			SPA17	-	-		0.386	SPA17-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	SPA17	HGNC	protein_coding	OTTHUMT00000387075.1	-	NM_017425		124566299	+1	no_errors	ENST00000524614	ensembl	human	known	70_37	rna	INS	0.001:0.001	A
SPATA6L	55064	genome.wustl.edu	37	9	4666556	4666557	+	5'UTR	INS	-	-	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:4666556_4666557insG	ENST00000454239.2	-	0	117_118				SPATA6L_ENST00000223517.5_5'Flank|SPATA6L_ENST00000381895.5_5'Flank|SPATA6L_ENST00000381890.5_5'Flank|SPATA6L_ENST00000475086.1_5'UTR			Q8N4H0	SPA6L_HUMAN	spermatogenesis associated 6-like																		GCCCTCACGGTCGCTGTTGCCC	0.629																																																	0																																										SO:0001623	5_prime_UTR_variant	55064			AK000920	CCDS43785.1, CCDS43785.2	9p24.2	2012-03-15	2012-03-15	2012-03-15	ENSG00000106686	ENSG00000106686			25472	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 68"""	C9orf68			Standard	NM_001039395		Approved	FLJ10058	uc011llz.2	Q8N4H0	OTTHUMG00000019469	ENST00000454239.2:c.-129->C	9.37:g.4666556_4666557insG			B4DIY4|Q5JVJ5|Q8IY90	RNA	INS	-	NULL	ENST00000454239.2	37	NULL		9																																																																																			SPATA6L	-	-		0.629	SPATA6L-202	KNOWN	basic	protein_coding	SPATA6L	HGNC	protein_coding		-	NM_017985		4666557	-1	no_errors	ENST00000498087	ensembl	human	known	70_37	rna	INS	0.000:0.000	G
SSPO	23145	genome.wustl.edu	37	7	149485713	149485713	+	RNA	SNP	G	G	A	rs376326507	byFrequency	TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:149485713G>A	ENST00000378016.2	+	0	4023							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTCCTTCCCGCCGGGGTCTG	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		20293	0.0		0.0	False		,,,				2504	0.002																0								G		0,4078		0,0,2039	20.0	22.0	22.0		4027	-8.3	0.0	7		22	1,8371		0,1,4185	no	coding-notMod3	SSPO	NM_198455.2		0,1,6224	AA,AG,GG		0.0119,0.0,0.0080			149485713	1,12449	2039	4186	6225			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149485713G>A			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.632	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149485713	+1	no_errors	ENST00000262089	ensembl	human	known	70_37	rna	SNP	0.013	A
STAG3	10734	genome.wustl.edu	37	7	99795228	99795228	+	Intron	SNP	G	G	T	rs2405730		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:99795228G>T	ENST00000426455.1	+	11	1472				STAG3_ENST00000394018.2_Intron|STAG3_ENST00000317296.5_Intron|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3						chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGATCCTTTTGTTTTTTAAGT	0.458																																																	0																																										SO:0001627	intron_variant	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.1066-173G>T	7.37:g.99795228G>T			A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	RNA	SNP	-	NULL	ENST00000426455.1	37	NULL	CCDS34703.1	7																																																																																			STAG3	-	-		0.458	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	G	NM_012447		99795228	+1	no_errors	ENST00000440830	ensembl	human	known	70_37	rna	SNP	0.000	T
TBXAS1	6916	genome.wustl.edu	37	7	139489299	139489299	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:139489299G>T	ENST00000336425.5	+	4	310				TBXAS1_ENST00000263552.6_Intron|TBXAS1_ENST00000425687.1_Intron			P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)						arachidonic acid metabolic process (GO:0019369)|cellular chloride ion homeostasis (GO:0030644)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|positive regulation of vasoconstriction (GO:0045907)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|thromboxane-A synthase activity (GO:0004796)			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)				Ridogrel(DB01207)|Sulfasalazine(DB00795)	tcccacctcagcctcccaaag	0.468																																																	0																																										SO:0001627	intron_variant	6916			L36085	CCDS5855.1, CCDS5856.1, CCDS55174.1, CCDS55175.1	7q34-q35	2014-09-17	2008-07-31		ENSG00000059377	ENSG00000059377	5.3.99.5	"""Cytochrome P450s"""	11609	protein-coding gene	gene with protein product	"""cytochrome P450, family 5, subfamily A, polypeptide 1"""	274180	"""thromboxane A synthase 1 (platelet, cytochrome P450, subfamily V)"""			1714723, 8964509	Standard	NM_001061		Approved	CYP5, CYP5A1, THAS, TXS, TXAS, TS	uc011kqv.2	P24557	OTTHUMG00000157302	ENST00000336425.5:c.-80+2074G>T	7.37:g.139489299G>T			B4DJG6|E7EMU9|E7EP08|E7ESB5|O14987|Q16843|Q16844|Q8IUN1|Q96CN2|Q9GZW4|Q9HD77|Q9HD78|Q9HD79|Q9HD80|Q9HD81|Q9HD82|Q9HD83|Q9HD84	RNA	SNP	-	NULL	ENST00000336425.5	37	NULL		7																																																																																			TBXAS1	-	-		0.468	TBXAS1-001	KNOWN	basic|appris_candidate	protein_coding	TBXAS1	HGNC	protein_coding	OTTHUMT00000348373.1	G			139489299	+1	no_errors	ENST00000493340	ensembl	human	known	70_37	rna	SNP	0.018	T
SSPO	23145	genome.wustl.edu	37	7	149488508	149488508	+	RNA	SNP	C	C	T	rs376322442		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:149488508C>T	ENST00000378016.2	+	0	5013							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GTGGAGGAGGCGGCAGTGCCA	0.657																																																	0								T		0,4018		0,0,2009	25.0	29.0	28.0			-6.3	0.0	7		28	1,8293		0,1,4146	no	intron	SSPO	NM_198455.2		0,1,6155	TT,TC,CC		0.0121,0.0,0.0081			149488508	1,12311	2009	4147	6156			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149488508C>T			Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		C			149488508	+1	no_errors	ENST00000262089	ensembl	human	known	70_37	rna	SNP	0.000	T
TCEA3	6920	genome.wustl.edu	37	1	23735133	23735133	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:23735133G>T	ENST00000450454.2	-	5	550				TCEA3_ENST00000374601.3_Intron|TCEA3_ENST00000461794.1_Intron	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3						regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACACTGGGATGGAGAAAGCTG	0.478																																																	0													116.0	114.0	115.0					1																	23735133		1933	4130	6063	SO:0001627	intron_variant	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.443+23C>A	1.37:g.23735133G>T			A8K2K7|Q5DR83	RNA	SNP	-	NULL	ENST00000450454.2	37	NULL	CCDS44086.1	1																																																																																			TCEA3	-	-		0.478	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TCEA3	HGNC	protein_coding	OTTHUMT00000008911.2	G	NM_003196		23735133	-1	no_errors	ENST00000374602	ensembl	human	known	70_37	rna	SNP	0.000	T
TCEA3	6920	genome.wustl.edu	37	1	23735133	23735133	+	Intron	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:23735133G>T	ENST00000450454.2	-	5	550				TCEA3_ENST00000374601.3_Intron|TCEA3_ENST00000461794.1_Intron	NM_003196.1	NP_003187.1	O75764	TCEA3_HUMAN	transcription elongation factor A (SII), 3						regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		ACACTGGGATGGAGAAAGCTG	0.478																																																	0													116.0	114.0	115.0					1																	23735133		1933	4130	6063	SO:0001627	intron_variant	6920			AJ223473	CCDS44086.1	1p36.11	2011-01-25			ENSG00000204219	ENSG00000204219			11615	protein-coding gene	gene with protein product		604128				9790746	Standard	NM_003196		Approved	TFIIS.H	uc021oig.1	O75764	OTTHUMG00000003233	ENST00000450454.2:c.443+23C>A	1.37:g.23735133G>T			A8K2K7|Q5DR83	RNA	SNP	-	NULL	ENST00000450454.2	37	NULL	CCDS44086.1	1																																																																																			TCEA3	-	-		0.478	TCEA3-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	TCEA3	HGNC	protein_coding	OTTHUMT00000008911.2	G	NM_003196		23735133	-1	no_errors	ENST00000374602	ensembl	human	known	70_37	rna	SNP	0.000	T
THSD4	79875	genome.wustl.edu	37	15	71507659	71507659	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:71507659G>A	ENST00000355327.3	+	4	519	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	THSD4_ENST00000261862.6_Missense_Mutation_p.A129T			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	129	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				elastic fiber assembly (GO:0048251)	extracellular vesicular exosome (GO:0070062)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CGGTACGGACGCCAGCCGCCA	0.741																																																	0													2.0	3.0	3.0					15																	71507659		1092	2489	3581	SO:0001583	missense	79875			AK023772	CCDS10238.2, CCDS66817.1	15q23	2009-11-09			ENSG00000187720	ENSG00000187720			25835	protein-coding gene	gene with protein product		614476				19734141	Standard	NM_001286429		Approved	FVSY9334, PRO34005, FLJ13710, ADAMTSL6	uc002atb.1	Q6ZMP0	OTTHUMG00000133389	ENST00000355327.3:c.385G>A	15.37:g.71507659G>A	ENSP00000347484:p.Ala129Thr		B2RTY3|B4DR13|Q6MZI3|Q6UXZ8|Q9H8E4	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt	p.A129T	ENST00000355327.3	37	c.385	CCDS10238.2	15	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832627	0.32421	.	.	ENSG00000187720	ENST00000355327;ENST00000261862	T;T	0.61158	0.13;0.13	4.5	0.0396	0.14205	.	1.561530	0.03796	N	0.263700	T	0.43433	0.1247	L	0.40543	1.245	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.05683	-1.0870	10	0.15499	T	0.54	.	2.4777	0.04580	0.0975:0.1566:0.389:0.3569	.	129	Q6ZMP0	THSD4_HUMAN	T	129	ENSP00000347484:A129T;ENSP00000261862:A129T	ENSP00000261862:A129T	A	+	1	0	THSD4	69294713	.	.	0.000000	0.03702	0.005000	0.04900	.	.	-0.319000	0.08652	0.491000	0.48974	GCC	THSD4	-	pfscan_Thrombospondin_1_rpt		0.741	THSD4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	THSD4	HGNC	protein_coding	OTTHUMT00000257253.2	G	NM_024817		71507659	+1	no_errors	ENST00000261862	ensembl	human	known	70_37	missense	SNP	0.000	A
TLL1	7092	genome.wustl.edu	37	4	166976380	166976380	+	Silent	SNP	C	C	T	rs142933283		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:166976380C>T	ENST00000061240.2	+	13	2324	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	TLL1_ENST00000507499.1_Silent_p.D582D|RNA5SP170_ENST00000517150.1_RNA	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	559	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D559D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGTTTCTGACGGAACTGTGA	0.363																																																	1	Substitution - coding silent(1)	large_intestine(1)						T		0,4406		0,0,2203	122.0	118.0	120.0		1677	-4.5	0.8	4	dbSNP_134	120	2,8598	818.9+/-406.8	0,2,4298	no	coding-synonymous	TLL1	NM_012464.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		559/1014	166976380	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1677C>T	4.37:g.166976380C>T			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.D559	ENST00000061240.2	37	c.1677	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	C			166976380	+1	no_errors	ENST00000061240	ensembl	human	known	70_37	silent	SNP	0.954	T
TLL1	7092	genome.wustl.edu	37	4	166976380	166976380	+	Silent	SNP	C	C	T	rs142933283		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr4:166976380C>T	ENST00000061240.2	+	13	2324	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	TLL1_ENST00000507499.1_Silent_p.D582D|RNA5SP170_ENST00000517150.1_RNA	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	559	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.D559D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTGTTTCTGACGGAACTGTGA	0.363																																																	1	Substitution - coding silent(1)	large_intestine(1)						T		0,4406		0,0,2203	122.0	118.0	120.0		1677	-4.5	0.8	4	dbSNP_134	120	2,8598	818.9+/-406.8	0,2,4298	no	coding-synonymous	TLL1	NM_012464.4		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		559/1014	166976380	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7092			AF282732	CCDS3811.1, CCDS56342.1	4q32-q33	2008-07-29			ENSG00000038295	ENSG00000038295			11843	protein-coding gene	gene with protein product		606742				10516436	Standard	NM_012464		Approved		uc003irh.2	O43897	OTTHUMG00000161112	ENST00000061240.2:c.1677C>T	4.37:g.166976380C>T			B2RMU2|Q96AN3|Q9NQS4	Silent	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.D559	ENST00000061240.2	37	c.1677	CCDS3811.1	4																																																																																			TLL1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB		0.363	TLL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL1	HGNC	protein_coding	OTTHUMT00000363821.1	C			166976380	+1	no_errors	ENST00000061240	ensembl	human	known	70_37	silent	SNP	0.954	T
TMCO5B	100652857	genome.wustl.edu	37	15	33528056	33528056	+	RNA	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr15:33528056G>A	ENST00000529696.1	-	0	1264							A8MYB1	TMC5B_HUMAN	transmembrane and coiled-coil domains 5B, pseudogene							integral component of membrane (GO:0016021)											GGACATCCACGAGAAGATCTG	0.493																																																	0																																												100652857					15q13.3	2013-09-26	2010-09-29		ENSG00000215296	ENSG00000215296			34243	pseudogene	pseudogene			"""transmembrane and coiled-coil domains 5B"""				Standard	NR_046005		Approved		uc031qri.1	A8MYB1	OTTHUMG00000167569		15.37:g.33528056G>A				RNA	SNP	-	NULL	ENST00000529696.1	37	NULL		15																																																																																			TMCO5B	-	-		0.493	TMCO5B-001	KNOWN	basic	processed_transcript	TMCO5B	HGNC	pseudogene	OTTHUMT00000395082.1	G			33528056	-1	no_errors	ENST00000529696	ensembl	human	known	70_37	rna	SNP	0.054	A
TMPO	7112	genome.wustl.edu	37	12	98938002	98938002	+	Intron	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:98938002G>C	ENST00000556029.1	+	5	1019				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTGATGCTTGAATAGAGCTA	0.403																																																	0													63.0	64.0	63.0					12																	98938002		2203	4299	6502	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.664-6G>C	12.37:g.98938002G>C			A2T926|Q14861	RNA	SNP	-	NULL	ENST00000556029.1	37	NULL	CCDS31879.1	12																																																																																			TMPO	-	-		0.403	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	G	NM_003276		98938002	+1	no_errors	ENST00000548223	ensembl	human	known	70_37	rna	SNP	1.000	C
TMPO	7112	genome.wustl.edu	37	12	98938002	98938002	+	Intron	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr12:98938002G>C	ENST00000556029.1	+	5	1019				TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000548223.1_3'UTR	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GTTGATGCTTGAATAGAGCTA	0.403																																																	0													63.0	64.0	63.0					12																	98938002		2203	4299	6502	SO:0001627	intron_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.664-6G>C	12.37:g.98938002G>C			A2T926|Q14861	RNA	SNP	-	NULL	ENST00000556029.1	37	NULL	CCDS31879.1	12																																																																																			TMPO	-	-		0.403	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	G	NM_003276		98938002	+1	no_errors	ENST00000548223	ensembl	human	known	70_37	rna	SNP	1.000	C
TRAF3IP1	26146	genome.wustl.edu	37	2	239237349	239237349	+	Missense_Mutation	SNP	G	G	A	rs199981238		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:239237349G>A	ENST00000373327.4	+	4	599	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R126Q|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R126Q	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	126	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GATGCGGTGCGGAGGGTTTTA	0.483																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82.0	83.0	83.0		377,377	3.5	0.9	2		83	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TRAF3IP1	NM_015650.3,NM_001139490.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	126/692,126/626	239237349	1,13005	2203	4300	6503	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.377G>A	2.37:g.239237349G>A	ENSP00000362424:p.Arg126Gln		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	pfam_Microtubule/TRAF3/DISC1-bd	p.R126Q	ENST00000373327.4	37	c.377	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533200	0.45073	0.0	1.16E-4	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.15603	2.41;2.41;2.41	4.65	3.5	0.40072	.	0.099394	0.64402	D	0.000005	T	0.07954	0.0199	N	0.04880	-0.145	0.32237	N	0.573152	B;B	0.17852	0.019;0.024	B;B	0.13407	0.003;0.009	T	0.13388	-1.0511	10	0.27785	T	0.31	-38.2589	9.6542	0.39917	0.9152:0.0:0.0848:0.0	.	126;126	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	Q	126	ENSP00000375851:R126Q;ENSP00000362424:R126Q;ENSP00000375852:R126Q	ENSP00000362424:R126Q	R	+	2	0	TRAF3IP1	238902088	1.000000	0.71417	0.948000	0.38648	0.094000	0.18550	1.594000	0.36697	0.756000	0.33013	-0.302000	0.09304	CGG	TRAF3IP1	-	pfam_Microtubule/TRAF3/DISC1-bd		0.483	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	G	NM_015650		239237349	+1	no_errors	ENST00000373327	ensembl	human	known	70_37	missense	SNP	1.000	A
TRAF3IP1	26146	genome.wustl.edu	37	2	239237349	239237349	+	Missense_Mutation	SNP	G	G	A	rs199981238		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr2:239237349G>A	ENST00000373327.4	+	4	599	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	TRAF3IP1_ENST00000391993.3_Missense_Mutation_p.R126Q|TRAF3IP1_ENST00000391994.2_Missense_Mutation_p.R126Q	NM_015650.3	NP_056465.2	Q8TDR0	MIPT3_HUMAN	TNF receptor-associated factor 3 interacting protein 1	126	Abolishes microtubules-binding when missing.				cilium assembly (GO:0042384)|embryonic camera-type eye development (GO:0031076)|embryonic digit morphogenesis (GO:0042733)|embryonic heart tube development (GO:0035050)|intraciliary transport (GO:0042073)|negative regulation of defense response to virus (GO:0050687)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube patterning (GO:0021532)|post-anal tail morphogenesis (GO:0036342)	axoneme (GO:0005930)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(2)	23		all_epithelial(40;3.22e-10)|Breast(86;0.000523)|Renal(207;0.00571)|Ovarian(221;0.156)|all_hematologic(139;0.182)		Epithelial(121;9.92e-24)|OV - Ovarian serous cystadenocarcinoma(60;7.85e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.01e-07)|BRCA - Breast invasive adenocarcinoma(100;7.72e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0184)		GATGCGGTGCGGAGGGTTTTA	0.483																																																	0								G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	82.0	83.0	83.0		377,377	3.5	0.9	2		83	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	TRAF3IP1	NM_015650.3,NM_001139490.1	43,43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	126/692,126/626	239237349	1,13005	2203	4300	6503	SO:0001583	missense	26146			AF230877	CCDS33415.1, CCDS46557.1	2q37.3	2014-02-21			ENSG00000204104	ENSG00000204104		"""Intraflagellar transport homologs"""	17861	protein-coding gene	gene with protein product	"""microtubule interacting protein that associates with TRAF3"""	607380				10791955, 12935900	Standard	NM_015650		Approved	MIP-T3, DKFZP434F124, MIPT3, IFT54	uc002vye.3	Q8TDR0	OTTHUMG00000152872	ENST00000373327.4:c.377G>A	2.37:g.239237349G>A	ENSP00000362424:p.Arg126Gln		Q6PCT1|Q7L8N9|Q9NRD6|Q9Y4Q1	Missense_Mutation	SNP	pfam_Microtubule/TRAF3/DISC1-bd	p.R126Q	ENST00000373327.4	37	c.377	CCDS33415.1	2	.	.	.	.	.	.	.	.	.	.	G	14.43	2.533200	0.45073	0.0	1.16E-4	ENSG00000204104	ENST00000391993;ENST00000373327;ENST00000391994;ENST00000440998	T;T;T	0.15603	2.41;2.41;2.41	4.65	3.5	0.40072	.	0.099394	0.64402	D	0.000005	T	0.07954	0.0199	N	0.04880	-0.145	0.32237	N	0.573152	B;B	0.17852	0.019;0.024	B;B	0.13407	0.003;0.009	T	0.13388	-1.0511	10	0.27785	T	0.31	-38.2589	9.6542	0.39917	0.9152:0.0:0.0848:0.0	.	126;126	Q8TDR0-2;Q8TDR0	.;MIPT3_HUMAN	Q	126	ENSP00000375851:R126Q;ENSP00000362424:R126Q;ENSP00000375852:R126Q	ENSP00000362424:R126Q	R	+	2	0	TRAF3IP1	238902088	1.000000	0.71417	0.948000	0.38648	0.094000	0.18550	1.594000	0.36697	0.756000	0.33013	-0.302000	0.09304	CGG	TRAF3IP1	-	pfam_Microtubule/TRAF3/DISC1-bd		0.483	TRAF3IP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRAF3IP1	HGNC	protein_coding	OTTHUMT00000328312.1	G	NM_015650		239237349	+1	no_errors	ENST00000373327	ensembl	human	known	70_37	missense	SNP	1.000	A
TSC2	7249	genome.wustl.edu	37	16	2115600	2115600	+	Silent	SNP	G	G	T	rs137854159		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:2115600G>T	ENST00000219476.3	+	16	2310	c.1680G>T	c.(1678-1680)gtG>gtT	p.V560V	TSC2_ENST00000350773.4_Silent_p.V560V|TSC2_ENST00000439673.2_Silent_p.V523V|TSC2_ENST00000568454.1_Silent_p.V571V|TSC2_ENST00000382538.6_Silent_p.V511V|TSC2_ENST00000401874.2_Silent_p.V560V|TSC2_ENST00000353929.4_Silent_p.V560V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	560					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAGGATGTGAAGACAGCCG	0.637			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													98.0	103.0	102.0					16																	2115600		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1680G>T	16.37:g.2115600G>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.V560	ENST00000219476.3	37	c.1680	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2115600	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T
TSC2	7249	genome.wustl.edu	37	16	2115600	2115600	+	Silent	SNP	G	G	T	rs137854159		TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr16:2115600G>T	ENST00000219476.3	+	16	2310	c.1680G>T	c.(1678-1680)gtG>gtT	p.V560V	TSC2_ENST00000350773.4_Silent_p.V560V|TSC2_ENST00000439673.2_Silent_p.V523V|TSC2_ENST00000568454.1_Silent_p.V571V|TSC2_ENST00000382538.6_Silent_p.V511V|TSC2_ENST00000401874.2_Silent_p.V560V|TSC2_ENST00000353929.4_Silent_p.V560V	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	560					acute-phase response (GO:0006953)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of TOR signaling (GO:0032007)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive chemotaxis (GO:0050918)|positive regulation of Ras GTPase activity (GO:0032320)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein import into nucleus (GO:0006606)|protein kinase B signaling (GO:0043491)|protein localization (GO:0008104)|regulation of cell cycle (GO:0051726)|regulation of endocytosis (GO:0030100)|regulation of insulin receptor signaling pathway (GO:0046626)|response to hypoxia (GO:0001666)|vesicle-mediated transport (GO:0016192)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|TSC1-TSC2 complex (GO:0033596)	GTPase activator activity (GO:0005096)|phosphatase binding (GO:0019902)|protein homodimerization activity (GO:0042803)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				TGGAGGATGTGAAGACAGCCG	0.637			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 2	16	16p13.3	7249	tuberous sclerosis 2 gene		"""E, O"""	0													98.0	103.0	102.0					16																	2115600		2198	4300	6498	SO:0001819	synonymous_variant	7249	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AB014460	CCDS10458.1, CCDS45384.1, CCDS58408.1	16p13.3	2014-09-17			ENSG00000103197	ENSG00000103197			12363	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 160"""	191092		TSC4		1303246, 7558029	Standard	NM_001077183		Approved	tuberin, LAM, PPP1R160	uc002con.3	P49815	OTTHUMG00000128745	ENST00000219476.3:c.1680G>T	16.37:g.2115600G>T			A7E2E2|B4DIL8|B4DIQ7|B4DRN2|B7Z2B8|C9J378|O75275|Q4LE71|Q8TAZ1	Silent	SNP	pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP,prints_Tuberin	p.V560	ENST00000219476.3	37	c.1680	CCDS10458.1	16																																																																																			TSC2	-	pfam_Tuberin-type_domain,superfamily_ARM-type_fold,prints_Tuberin		0.637	TSC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSC2	HGNC	protein_coding	OTTHUMT00000250657.2	G	NM_000548		2115600	+1	no_errors	ENST00000219476	ensembl	human	known	70_37	silent	SNP	1.000	T
TSKS	60385	genome.wustl.edu	37	19	50250006	50250006	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:50250006C>T	ENST00000246801.3	-	6	795	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	TSKS_ENST00000358830.3_Missense_Mutation_p.R38Q	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	238					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ggcctcctgccgtcgcggcgt	0.677																																																	0													16.0	16.0	16.0					19																	50250006		2187	4255	6442	SO:0001583	missense	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.713G>A	19.37:g.50250006C>T	ENSP00000246801:p.Arg238Gln		Q8WXJ0	Missense_Mutation	SNP	NULL	p.R238Q	ENST00000246801.3	37	c.713	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	-	23.0	4.363357	0.82353	.	.	ENSG00000126467	ENST00000246801;ENST00000358830	T;T	0.47528	0.84;0.84	4.78	4.78	0.61160	.	0.129283	0.33834	N	0.004508	T	0.44871	0.1314	L	0.29908	0.895	0.33092	D	0.538102	D	0.64830	0.994	P	0.51229	0.663	T	0.55730	-0.8095	10	0.38643	T	0.18	-15.0987	13.1733	0.59611	0.0:1.0:0.0:0.0	.	238	Q9UJT2	TSKS_HUMAN	Q	238;38	ENSP00000246801:R238Q;ENSP00000351691:R38Q	ENSP00000246801:R238Q	R	-	2	0	TSKS	54941818	0.997000	0.39634	0.982000	0.44146	0.511000	0.34104	3.218000	0.51192	2.472000	0.83506	0.591000	0.81541	CGG	TSKS	-	NULL		0.677	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50250006	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	missense	SNP	0.975	T
TTC17	55761	genome.wustl.edu	37	11	43411246	43411246	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr11:43411246C>A	ENST00000039989.4	+	3	308	c.294C>A	c.(292-294)gaC>gaA	p.D98E	RP11-484D2.4_ENST00000394183.2_RNA|TTC17_ENST00000299240.6_Missense_Mutation_p.D98E	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	98					actin filament polymerization (GO:0030041)|cilium organization (GO:0044782)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						AGAATGAGGACAGAGACACAG	0.388																																																	0													124.0	116.0	119.0					11																	43411246		2203	4300	6503	SO:0001583	missense	55761			AK001540	CCDS31466.1	11p11.2	2013-01-10			ENSG00000052841	ENSG00000052841		"""Tetratricopeptide (TTC) repeat domain containing"""	25596	protein-coding gene	gene with protein product						12477932	Standard	NM_018259		Approved	FLJ10890	uc001mxi.3	Q96AE7	OTTHUMG00000166398	ENST00000039989.4:c.294C>A	11.37:g.43411246C>A	ENSP00000039989:p.Asp98Glu		G3XAB3|Q8NEC0	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D98E	ENST00000039989.4	37	c.294	CCDS31466.1	11	.	.	.	.	.	.	.	.	.	.	C	21.8	4.209341	0.79240	.	.	ENSG00000052841	ENST00000299240;ENST00000039989	T;T	0.36699	1.31;1.24	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	L	0.51422	1.61	0.47698	D	0.999496	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.91635	0.994;0.991;0.999	T	0.52756	-0.8533	10	0.59425	D	0.04	-19.758	12.7978	0.57567	0.0:0.9206:0.0:0.0794	.	98;98;98	Q8NEC0;Q96AE7;G3XAB3	.;TTC17_HUMAN;.	E	98	ENSP00000299240:D98E;ENSP00000039989:D98E	ENSP00000039989:D98E	D	+	3	2	TTC17	43367822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.913000	0.63341	2.400000	0.81607	0.563000	0.77884	GAC	TTC17	-	NULL		0.388	TTC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC17	HGNC	protein_coding	OTTHUMT00000389577.2	C	NM_018259		43411246	+1	no_errors	ENST00000039989	ensembl	human	known	70_37	missense	SNP	1.000	A
TUBBP1	92755	genome.wustl.edu	37	8	30209644	30209644	+	RNA	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:30209644G>A	ENST00000518096.1	+	0	256									tubulin, beta pseudogene 1																		CGGGGACAGCGACCTGCAGCT	0.572																																																	0																																												92755			J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209644G>A				RNA	SNP	-	NULL	ENST00000518096.1	37	NULL		8																																																																																			TUBBP1	-	-		0.572	TUBBP1-002	KNOWN	basic	processed_transcript	TUBBP1	HGNC	pseudogene	OTTHUMT00000375880.1	G	NG_001206		30209644	+1	no_errors	ENST00000518096	ensembl	human	known	70_37	rna	SNP	1.000	A
TUBBP1	92755	genome.wustl.edu	37	8	30209644	30209644	+	RNA	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:30209644G>A	ENST00000518096.1	+	0	256									tubulin, beta pseudogene 1																		CGGGGACAGCGACCTGCAGCT	0.572																																																	0																																												92755			J00317		8p12	2012-10-16	2005-11-15		ENSG00000127589	ENSG00000127589			12414	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 1"""			7070533	Standard	NG_001206		Approved				OTTHUMG00000163834		8.37:g.30209644G>A				RNA	SNP	-	NULL	ENST00000518096.1	37	NULL		8																																																																																			TUBBP1	-	-		0.572	TUBBP1-002	KNOWN	basic	processed_transcript	TUBBP1	HGNC	pseudogene	OTTHUMT00000375880.1	G	NG_001206		30209644	+1	no_errors	ENST00000518096	ensembl	human	known	70_37	rna	SNP	1.000	A
UBL4A	8266	genome.wustl.edu	37	X	153713871	153713871	+	3'UTR	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:153713871G>A	ENST00000369660.4	-	0	566				UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Intron	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A						cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCATGCTCCGAGAATTCTAT	0.562																																					Esophageal Squamous(74;88 1215 11149 34177 46777)												0													95.0	90.0	92.0					X																	153713871		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8266			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.*7C>T	X.37:g.153713871G>A			Q5HY80	RNA	SNP	-	NULL	ENST00000369660.4	37	NULL	CCDS14754.1	X																																																																																			UBL4A	-	-		0.562	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4A	HGNC	protein_coding	OTTHUMT00000037238.2	G	NM_014235		153713871	-1	no_errors	ENST00000477777	ensembl	human	putative	70_37	rna	SNP	0.000	A
UBL4A	8266	genome.wustl.edu	37	X	153713871	153713871	+	3'UTR	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:153713871G>A	ENST00000369660.4	-	0	566				UBL4A_ENST00000477777.1_5'UTR|UBL4A_ENST00000369653.4_Intron	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A						cellular protein modification process (GO:0006464)|tail-anchored membrane protein insertion into ER membrane (GO:0071816)|transport (GO:0006810)	BAT3 complex (GO:0071818)|cytosol (GO:0005829)	small conjugating protein ligase activity (GO:0019787)			endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCATGCTCCGAGAATTCTAT	0.562																																					Esophageal Squamous(74;88 1215 11149 34177 46777)												0													95.0	90.0	92.0					X																	153713871		2203	4300	6503	SO:0001624	3_prime_UTR_variant	8266			J03589	CCDS14754.1	Xq28	2010-08-05	2005-09-27	2005-09-27	ENSG00000102178	ENSG00000102178			12505	protein-coding gene	gene with protein product		312070	"""ubiquitin-like 4"""	UBL4		2829204, 16872915	Standard	NM_014235		Approved	GDX, DXS254E, GET5, MDY2, TMA24	uc004flo.3	P11441	OTTHUMG00000013370	ENST00000369660.4:c.*7C>T	X.37:g.153713871G>A			Q5HY80	RNA	SNP	-	NULL	ENST00000369660.4	37	NULL	CCDS14754.1	X																																																																																			UBL4A	-	-		0.562	UBL4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBL4A	HGNC	protein_coding	OTTHUMT00000037238.2	G	NM_014235		153713871	-1	no_errors	ENST00000477777	ensembl	human	putative	70_37	rna	SNP	0.000	A
UBOX5	22888	genome.wustl.edu	37	20	3091040	3091040	+	Intron	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr20:3091040C>T	ENST00000217173.2	-	5	1889				UBOX5-AS1_ENST00000446537.1_RNA|UBOX5-AS1_ENST00000454019.1_RNA|UBOX5_ENST00000348031.2_Intron	NM_001267584.1|NM_014948.3	NP_001254513.1|NP_055763.1			U-box domain containing 5											endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	20						GCAGAGCCTTCCCACCGTGCT	0.617																																																	0																																										SO:0001627	intron_variant	100134015			AB020667	CCDS13046.1, CCDS13047.1	20p13	2013-01-28			ENSG00000185019	ENSG00000185019		"""RING-type (C3HC4) zinc fingers"", ""U-box domain containing"""	17777	protein-coding gene	gene with protein product						11274149	Standard	NM_014948		Approved	UIP5, KIAA0860, Ubce7ip5, RNF37	uc002whw.4	O94941	OTTHUMG00000031731	ENST00000217173.2:c.1418-80G>A	20.37:g.3091040C>T				RNA	SNP	-	NULL	ENST00000217173.2	37	NULL	CCDS13046.1	20																																																																																			UBOX5-AS1	-	-		0.617	UBOX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBOX5-AS1	HGNC	protein_coding	OTTHUMT00000077706.2	C	NM_014948		3091040	+1	no_errors	ENST00000446537	ensembl	human	known	70_37	rna	SNP	0.007	T
UBR4	23352	genome.wustl.edu	37	1	19483350	19483350	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:19483350G>A	ENST00000375254.3	-	41	5857	c.5830C>T	c.(5830-5832)Cgc>Tgc	p.R1944C	UBR4_ENST00000375217.2_Missense_Mutation_p.R1944C|UBR4_ENST00000375226.2_Missense_Mutation_p.R1944C|UBR4_ENST00000375267.2_Missense_Mutation_p.R1944C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1944					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAGCCAAGCGGGTCAGAGTT	0.473																																																	0													79.0	72.0	74.0					1																	19483350		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5830C>T	1.37:g.19483350G>A	ENSP00000364403:p.Arg1944Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1944C	ENST00000375254.3	37	c.5830	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.208934	0.95069	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;3.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.37641	-0.9697	10	0.87932	D	0	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	1944	Q5T4S7	UBR4_HUMAN	C	1944;1944;1944;1944;654;1160	ENSP00000364403:R1944C;ENSP00000364416:R1944C;ENSP00000364365:R1944C;ENSP00000364374:R1944C;ENSP00000404897:R654C	ENSP00000364365:R1944C	R	-	1	0	UBR4	19355937	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.238000	0.95380	2.709000	0.92574	0.491000	0.48974	CGC	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19483350	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A
UBR4	23352	genome.wustl.edu	37	1	19483350	19483350	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr1:19483350G>A	ENST00000375254.3	-	41	5857	c.5830C>T	c.(5830-5832)Cgc>Tgc	p.R1944C	UBR4_ENST00000375217.2_Missense_Mutation_p.R1944C|UBR4_ENST00000375226.2_Missense_Mutation_p.R1944C|UBR4_ENST00000375267.2_Missense_Mutation_p.R1944C	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1944					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GAAGCCAAGCGGGTCAGAGTT	0.473																																																	0													79.0	72.0	74.0					1																	19483350		2203	4300	6503	SO:0001583	missense	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.5830C>T	1.37:g.19483350G>A	ENSP00000364403:p.Arg1944Cys		A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.R1944C	ENST00000375254.3	37	c.5830	CCDS189.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.208934	0.95069	.	.	ENSG00000127481	ENST00000375254;ENST00000375267;ENST00000375217;ENST00000375226;ENST00000417040;ENST00000419533	T;T;T;T;T	0.16743	2.32;2.32;2.32;2.32;3.36	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.45597	0.1350	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.74023	0.982	T	0.37641	-0.9697	10	0.87932	D	0	.	19.8856	0.96911	0.0:0.0:1.0:0.0	.	1944	Q5T4S7	UBR4_HUMAN	C	1944;1944;1944;1944;654;1160	ENSP00000364403:R1944C;ENSP00000364416:R1944C;ENSP00000364365:R1944C;ENSP00000364374:R1944C;ENSP00000404897:R654C	ENSP00000364365:R1944C	R	-	1	0	UBR4	19355937	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.238000	0.95380	2.709000	0.92574	0.491000	0.48974	CGC	UBR4	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.473	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	G	NM_020765		19483350	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	missense	SNP	1.000	A
USF2	7392	genome.wustl.edu	37	19	35770409	35770409	+	3'UTR	SNP	C	C	G			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:35770409C>G	ENST00000222305.3	+	0	1328				USF2_ENST00000343550.5_3'UTR|USF2_ENST00000595068.1_3'UTR|HAMP_ENST00000598398.1_5'Flank|HAMP_ENST00000222304.3_5'Flank|USF2_ENST00000600341.1_3'UTR	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting						lactation (GO:0007595)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TCACTAAGCCCCGGCACTTCT	0.632																																					NSCLC(103;173 2832 8890)												0																																										SO:0001624	3_prime_UTR_variant	7392			AY007087	CCDS12452.1, CCDS12453.1	19q13	2013-05-21				ENSG00000105698		"""Basic helix-loop-helix proteins"""	12594	protein-coding gene	gene with protein product		600390				8954795	Standard	NM_003367		Approved	FIP, bHLHb12	uc002nyq.1	Q15853		ENST00000222305.3:c.*250C>G	19.37:g.35770409C>G			O00671|O00709|Q05750|Q07952|Q15851|Q15852|Q6FI33|Q6YI47	RNA	SNP	-	NULL	ENST00000222305.3	37	NULL	CCDS12452.1	19																																																																																			USF2	-	-		0.632	USF2-013	KNOWN	basic|appris_principal|CCDS	protein_coding	USF2	HGNC	protein_coding	OTTHUMT00000466056.1	C	NM_003367		35770409	+1	no_errors	ENST00000600341	ensembl	human	known	70_37	rna	SNP	0.834	G
MTMR7	9108	genome.wustl.edu	37	8	17155656	17155656	+	3'UTR	SNP	G	G	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr8:17155656G>A	ENST00000180173.5	-	0	3732				VPS37A_ENST00000521162.1_3'UTR	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7						inositol phosphate dephosphorylation (GO:0046855)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|protein dephosphorylation (GO:0006470)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		ACAGCTCCAAGAAGGTTGTGA	0.323																																																	0																																										SO:0001624	3_prime_UTR_variant	137492			AF073482	CCDS34851.1	8p22	2011-06-09			ENSG00000003987	ENSG00000003987		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	7454	protein-coding gene	gene with protein product		603562				9736772, 12890864	Standard	NM_004686		Approved		uc003wxm.3	Q9Y216	OTTHUMG00000163771	ENST00000180173.5:c.*1715C>T	8.37:g.17155656G>A			A1L4K9|B4DG87|Q68DX4	RNA	SNP	-	NULL	ENST00000180173.5	37	NULL	CCDS34851.1	8																																																																																			VPS37A	-	-		0.323	MTMR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS37A	HGNC	protein_coding	OTTHUMT00000375311.1	G	NM_004686		17155656	+1	no_errors	ENST00000519515	ensembl	human	known	70_37	rna	SNP	0.000	A
ZDHHC21	340481	genome.wustl.edu	37	9	14672836	14672836	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr9:14672836G>T	ENST00000380916.4	-	5	711	c.245C>A	c.(244-246)cCa>cAa	p.P82Q		NM_178566.4	NP_848661.1	Q8IVQ6	ZDH21_HUMAN	zinc finger, DHHC-type containing 21	82					hair follicle development (GO:0001942)|nitric oxide metabolic process (GO:0046209)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|protein palmitoylation (GO:0018345)|regulation of nitric-oxide synthase activity (GO:0050999)|sebaceous gland development (GO:0048733)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	palmitoyltransferase activity (GO:0016409)|protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9				GBM - Glioblastoma multiforme(50;4.31e-06)		ACCTCCATGTGGGATCTTGGG	0.368																																																	0													86.0	95.0	92.0					9																	14672836		2203	4300	6503	SO:0001583	missense	340481			AF161360	CCDS6475.1	9p22.3	2010-02-09			ENSG00000175893	ENSG00000175893		"""Zinc fingers, DHHC-type"""	20750	protein-coding gene	gene with protein product		614605				19956733	Standard	NM_178566		Approved	HSPC097, DNZ1	uc003zlg.2	Q8IVQ6	OTTHUMG00000019573	ENST00000380916.4:c.245C>A	9.37:g.14672836G>T	ENSP00000370303:p.Pro82Gln		A8KA95|D3DRI7|Q5VWG1	Missense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.P82Q	ENST00000380916.4	37	c.245	CCDS6475.1	9	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174945	0.78564	.	.	ENSG00000175893	ENST00000380916	T	0.22539	1.95	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	T	0.45577	0.1349	M	0.70903	2.155	0.48632	D	0.999687	D	0.76494	0.999	D	0.91635	0.999	T	0.14531	-1.0469	10	0.24483	T	0.36	-6.09	17.2249	0.86966	0.0:0.0:1.0:0.0	.	82	Q8IVQ6	ZDH21_HUMAN	Q	82	ENSP00000370303:P82Q	ENSP00000370303:P82Q	P	-	2	0	ZDHHC21	14662836	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.115000	0.77110	2.661000	0.90470	0.585000	0.79938	CCA	ZDHHC21	-	NULL		0.368	ZDHHC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC21	HGNC	protein_coding	OTTHUMT00000051748.2	G	NM_178566		14672836	-1	no_errors	ENST00000380916	ensembl	human	known	70_37	missense	SNP	1.000	T
ZFAND4	93550	genome.wustl.edu	37	10	46122404	46122404	+	Silent	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:46122404G>C	ENST00000344646.5	-	7	1082	c.867C>G	c.(865-867)ccC>ccG	p.P289P	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Silent_p.P215P|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	289							zinc ion binding (GO:0008270)										TGGAGATTTCGGGCGGATATG	0.443																																																	0													110.0	104.0	106.0					10																	46122404		2203	4300	6503	SO:0001819	synonymous_variant	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.867C>G	10.37:g.46122404G>C			A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.P289	ENST00000344646.5	37	c.867	CCDS7214.1	10																																																																																			ZFAND4	-	NULL		0.443	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	G	NM_174890		46122404	-1	no_errors	ENST00000344646	ensembl	human	known	70_37	silent	SNP	0.852	C
ZFAND4	93550	genome.wustl.edu	37	10	46122404	46122404	+	Silent	SNP	G	G	C			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr10:46122404G>C	ENST00000344646.5	-	7	1082	c.867C>G	c.(865-867)ccC>ccG	p.P289P	ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374366.3_Silent_p.P215P|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	289							zinc ion binding (GO:0008270)										TGGAGATTTCGGGCGGATATG	0.443																																																	0													110.0	104.0	106.0					10																	46122404		2203	4300	6503	SO:0001819	synonymous_variant	93550			AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.867C>G	10.37:g.46122404G>C			A8K8V4|B2RAX2|Q5VVY5	Silent	SNP	pfam_Ubiquitin,pfam_Znf_AN1,smart_Ubiquitin,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.P289	ENST00000344646.5	37	c.867	CCDS7214.1	10																																																																																			ZFAND4	-	NULL		0.443	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFAND4	HGNC	protein_coding	OTTHUMT00000047790.1	G	NM_174890		46122404	-1	no_errors	ENST00000344646	ensembl	human	known	70_37	silent	SNP	0.852	C
ZFYVE16	9765	genome.wustl.edu	37	5	79706148	79706149	+	Intron	INS	-	-	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr5:79706148_79706149insA	ENST00000338008.5	+	1	141				ZFYVE16_ENST00000510158.1_Intron|ZFYVE16_ENST00000512442.1_3'UTR|ZFYVE16_ENST00000505560.1_Intron	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16						BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		tgacatgctttaaaaaaaaaaa	0.312																																					Melanoma(150;1452 1854 16018 17851 37292)												0																																										SO:0001627	intron_variant	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.-40+2176->A	5.37:g.79706159_79706159dupA			O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	RNA	INS	-	NULL	ENST00000338008.5	37	NULL	CCDS4050.1	5																																																																																			ZFYVE16	-	-		0.312	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	-	NM_014733		79706149	+1	no_errors	ENST00000512442	ensembl	human	known	70_37	rna	INS	0.001:0.002	A
ZNF12	7559	genome.wustl.edu	37	7	6731192	6731192	+	Nonsense_Mutation	SNP	C	C	A			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:6731192C>A	ENST00000405858.1	-	5	1922	c.1381G>T	c.(1381-1383)Gga>Tga	p.G461*	AC073343.13_ENST00000366167.2_RNA|AC073343.2_ENST00000577401.1_RNA|ZNF12_ENST00000404360.1_Nonsense_Mutation_p.G387*|ZNF12_ENST00000342651.5_Nonsense_Mutation_p.G423*	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	461					negative regulation of transcription, DNA-templated (GO:0045892)|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)			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GGTTTCTCTCCTGAATGAGTT	0.423																																																	0													79.0	87.0	84.0					7																	6731192		2198	4298	6496	SO:0001587	stop_gained	7559			X52334, AB021643	CCDS47538.1, CCDS47539.1	7p21.1	2013-01-08	2005-06-09		ENSG00000164631	ENSG00000164631		"""Zinc fingers, C2H2-type"", ""-"""	12902	protein-coding gene	gene with protein product		194536	"""zinc finger protein 325"""	ZNF325			Standard	NM_016265		Approved	KOX3, GIOT-3	uc003sqt.1	P17014	OTTHUMG00000151910	ENST00000405858.1:c.1381G>T	7.37:g.6731192C>A	ENSP00000385939:p.Gly461*		A8MYC4|A8WFQ8|B2RNQ7|B4DF45|Q6N016|Q8NHZ0|Q9H9P0|Q9ULZ6	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G461*	ENST00000405858.1	37	c.1381	CCDS47538.1	7	.	.	.	.	.	.	.	.	.	.	C	43	10.006012	0.99315	.	.	ENSG00000164631	ENST00000404360;ENST00000405858;ENST00000342651;ENST00000399476;ENST00000330442	.	.	.	4.0	4.0	0.46444	.	0.000000	0.40302	N	0.001121	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	14.4017	0.67050	0.0:1.0:0.0:0.0	.	.	.	.	X	387;461;423;519;423	.	ENSP00000331039:G423X	G	-	1	0	ZNF12	6697717	0.758000	0.28405	0.972000	0.41901	0.999000	0.98932	5.855000	0.69510	2.521000	0.84997	0.655000	0.94253	GGA	ZNF12	-	pfscan_Znf_C2H2		0.423	ZNF12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF12	HGNC	protein_coding	OTTHUMT00000324373.2	C	NM_016265		6731192	-1	no_errors	ENST00000405858	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZNF467	168544	genome.wustl.edu	37	7	149462767	149462767	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr7:149462767G>T	ENST00000302017.3	-	5	1237	c.824C>A	c.(823-825)aCg>aAg	p.T275K	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	275					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTCGCATTCCGTGCAGGGGAA	0.657																																																	0													38.0	25.0	29.0					7																	149462767		2203	4300	6503	SO:0001583	missense	168544			BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.824C>A	7.37:g.149462767G>T	ENSP00000304769:p.Thr275Lys			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.T275K	ENST00000302017.3	37	c.824	CCDS5899.1	7	.	.	.	.	.	.	.	.	.	.	g	9.655	1.142520	0.21205	.	.	ENSG00000181444	ENST00000302017	T	0.07021	3.23	4.33	4.33	0.51752	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.515158	0.14446	U	0.319059	T	0.04588	0.0125	N	0.10685	0.025	0.09310	N	1	P	0.44946	0.846	B	0.42593	0.392	T	0.12708	-1.0537	10	0.05721	T	0.95	-6.3592	12.4356	0.55598	0.0:0.0:0.8312:0.1687	.	275	Q7Z7K2	ZN467_HUMAN	K	275	ENSP00000304769:T275K	ENSP00000304769:T275K	T	-	2	0	ZNF467	149093700	0.000000	0.05858	0.657000	0.29651	0.773000	0.43773	0.086000	0.14935	1.940000	0.56252	0.457000	0.33378	ACG	ZNF467	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.657	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF467	HGNC	protein_coding	OTTHUMT00000349833.1	G	NM_207336		149462767	-1	no_errors	ENST00000302017	ensembl	human	known	70_37	missense	SNP	0.031	T
ZNF75D	7626	genome.wustl.edu	37	X	134421467	134421467	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:134421467C>T	ENST00000370766.3	-	7	3844	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D284N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	379					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTAATAAGATCAGAGCTAACT	0.408																																																	0													63.0	58.0	60.0					X																	134421467		2203	4299	6502	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1135G>A	X.37:g.134421467C>T	ENSP00000359802:p.Asp379Asn		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D379N	ENST00000370766.3	37	c.1135	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281775	0.23392	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.36340	5.46;1.26	3.1	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.430031	0.17134	N	0.185740	T	0.11836	0.0288	N	0.01751	-0.74	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.20384	0.029;0.029	T	0.33624	-0.9861	10	0.13108	T	0.6	.	6.5773	0.22573	0.0:0.7339:0.0:0.2661	.	379;284	P51815;A6NK62	ZN75D_HUMAN;.	N	379;284	ENSP00000359802:D379N;ENSP00000359800:D284N	ENSP00000359800:D284N	D	-	1	0	ZNF75D	134249133	0.000000	0.05858	0.022000	0.16811	0.803000	0.45373	-1.446000	0.02398	0.215000	0.20761	0.422000	0.28245	GAT	ZNF75D	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	C	NM_007131		134421467	-1	no_errors	ENST00000370766	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF75D	7626	genome.wustl.edu	37	X	134421467	134421467	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chrX:134421467C>T	ENST00000370766.3	-	7	3844	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	ZNF75D_ENST00000370764.1_Missense_Mutation_p.D284N|ZNF75D_ENST00000494295.1_Intron	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	379					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTAATAAGATCAGAGCTAACT	0.408																																																	0													63.0	58.0	60.0					X																	134421467		2203	4299	6502	SO:0001583	missense	7626			S43109	CCDS14648.1, CCDS55503.1	Xq26	2013-01-09	2008-06-11	2008-06-11	ENSG00000186376	ENSG00000186376		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13145	protein-coding gene	gene with protein product		314997	"""zinc finger protein 75 (D8C6)"""	ZNF82, ZNF75		1505955	Standard	XM_005262469		Approved	ZKSCAN24, D8C6, ZSCAN28	uc004eyo.3	P51815	OTTHUMG00000022482	ENST00000370766.3:c.1135G>A	X.37:g.134421467C>T	ENSP00000359802:p.Asp379Asn		A6NK62|B3KRI7|Q5JPG0|Q6LDE0	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.D379N	ENST00000370766.3	37	c.1135	CCDS14648.1	X	.	.	.	.	.	.	.	.	.	.	C	10.19	1.281775	0.23392	.	.	ENSG00000186376	ENST00000370766;ENST00000370764	T;T	0.36340	5.46;1.26	3.1	1.31	0.21738	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.430031	0.17134	N	0.185740	T	0.11836	0.0288	N	0.01751	-0.74	0.09310	N	1	B;B	0.16396	0.017;0.017	B;B	0.20384	0.029;0.029	T	0.33624	-0.9861	10	0.13108	T	0.6	.	6.5773	0.22573	0.0:0.7339:0.0:0.2661	.	379;284	P51815;A6NK62	ZN75D_HUMAN;.	N	379;284	ENSP00000359802:D379N;ENSP00000359800:D284N	ENSP00000359800:D284N	D	-	1	0	ZNF75D	134249133	0.000000	0.05858	0.022000	0.16811	0.803000	0.45373	-1.446000	0.02398	0.215000	0.20761	0.422000	0.28245	GAT	ZNF75D	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF75D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF75D	HGNC	protein_coding	OTTHUMT00000058415.1	C	NM_007131		134421467	-1	no_errors	ENST00000370766	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF90	7643	genome.wustl.edu	37	19	20236288	20236288	+	3'UTR	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:20236288C>T	ENST00000474284.1	+	0	712				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000590606.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA			Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAAATCCTACCGATAAGCCCA	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000474284.1:c.*709C>T	19.37:g.20236288C>T			B9EH87	RNA	SNP	-	NULL	ENST00000474284.1	37	NULL		19																																																																																			ZNF90	-	-		0.428	ZNF90-003	KNOWN	basic	processed_transcript	ZNF90	HGNC	protein_coding	OTTHUMT00000350103.2	C	NM_007138		20236288	+1	no_errors	ENST00000474284	ensembl	human	known	70_37	rna	SNP	1.000	T
ZNF90	7643	genome.wustl.edu	37	19	20236288	20236288	+	3'UTR	SNP	C	C	T			TCGA-C5-A1MI-01A-11D-A14W-08	TCGA-C5-A1MI-10A-01D-A14W-08	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	497c20f0-8a42-4d20-abdc-0415982ebb9f	a3d0503b-baac-4f83-9182-be7b4154c61d	g.chr19:20236288C>T	ENST00000474284.1	+	0	712				CTC-260E6.6_ENST00000593655.1_RNA|CTC-260E6.6_ENST00000590606.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA			Q03938	ZNF90_HUMAN	zinc finger protein 90						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|lung(2)|ovary(1)|skin(1)	5						GAAATCCTACCGATAAGCCCA	0.428																																																	0																																										SO:0001624	3_prime_UTR_variant	7643			M61870	CCDS46028.1	19p12	2013-01-08	2006-02-01		ENSG00000213988	ENSG00000213988		"""Zinc fingers, C2H2-type"", ""-"""	13165	protein-coding gene	gene with protein product		603973	"""zinc finger protein 90 (HTF9)"""			8467795	Standard	NM_007138		Approved	HTF9	uc002nor.2	Q03938	OTTHUMG00000158057	ENST00000474284.1:c.*709C>T	19.37:g.20236288C>T			B9EH87	RNA	SNP	-	NULL	ENST00000474284.1	37	NULL		19																																																																																			ZNF90	-	-		0.428	ZNF90-003	KNOWN	basic	processed_transcript	ZNF90	HGNC	protein_coding	OTTHUMT00000350103.2	C	NM_007138		20236288	+1	no_errors	ENST00000474284	ensembl	human	known	70_37	rna	SNP	1.000	T
